(BQ) Part 1 book The ESC textbook of cardiovascular medicine presents the following contents: The morphology of the electrocardiogram, cardiac ultrasound, cardiovascular magnetic resonance, cardiovascular computerized tomography, nuclear cardiology, invasive imaging and haemodynamics, clinical pharmacology of cardiovascular drugs,...
The ESC Textbook of Cardiovascular Medicine A JOHN CAMM THOMAS F LÜSCHER PATRICK W SERRUYS www.passfans.com/forum List of Contributors Editors: A John Camm MD FESC FRCP FACC FAHA FCGC Professor of Clinical Cardiology, Chairman of the Division of Cardiac and Vascular Sciences, St George’s University of London, London, UK Thomas F Lüscher MD FRCP Professor and Head of Cardiology, University Hospital, Zurich, Switzerland Patrick W Serruys MD PhD FESC FACC Professor of Medicine and Interventional Cardiology, Head of the Department of Interventional Cardiology, Thoraxcenter, Erasmus Medical Centre, Rotterdam, The Netherlands Bert Andersson MD PhD Department of Cardiology, Sahlgrenska University Hospital, Gothenburg, Sweden Annalisa Angelini MD Department of Cardiovascular Pathology, Universita di Padova, Via A Gabelli 61, Padova, Italy Stefan Anker MD PhD Clinical Research Fellow, Department of Cardiac Medicine, National Heart and Lung Institute, London, UK Velislav N Batchvarov MD Department of Cardiac and Vascular Sciences, St George’s Medical School, London, UK Iris Baumgartner MD Swiss Cardiovascular Center, Division of Angiology, University Hospital, 3010-Bern, Switzerland Authors: Stephan Achenbach MD FESC Department of Internal Medicine, University of Erlangen, Erlangen, Germany Antoni Bayés de Luna MD Director of Cardiology Department, Hospital Santa Creu i Sant Pau, Barcelona, Spain Etienne Aliot MD FESC FACC Department of Cardiology, University of Nancy, Vandoeuvre-les-Nancy, France Giancarlo Biamino MD Department of Clinical and Interventional Angiology, Heartcenter Leipzig, Leipzig, Germany Maurits A Allessie MD PhD Physiology Department, Maastricht University, Cardiovascular Research Institute Maastricht, Maastricht, The Netherlands Jean-Jacques Blanc MD FESC Département de Cardiologie, Hôpital de la Cavale Blanche, Brest, France Carina Blomström-Lundqvist MD PhD FESC FACC www.passfans.com/forum Department of Cardiology, University Hospital in Uppsala, Uppsala, Sweden Giacomo G Boccuzzi MD Unità di Cardiologia Invasiva, Ospedale San Giovanni Bosco, Torino, Italy Eric Boersma MSc PhD FESC Associate Professor of Clinical Cardiovascular Epidemiology, Department of Cardiology, Erasmus Medical Center, Rotterdam, The Netherlands Pathophysiology, Imperial College of Science, Technology and Medicine, Hammersmith Hospital, London, UK Alessandro Capucci MD Centro Studi, Associazione Cardiologi Ospedalieri, FIRE Study Investigators, Firenze, Italy Raffaele De Caterina MD PhD Director of University Cardiology Division, Università degli Studi di Chieti G D’Annunzio, Chieti, Italy Henri Bounameaux MD Professor of Medicine and Director of Division of Angiology and Homeostasis, University Hospital of Geneva, Geneva, Switzerland Christian de Chillou MD PhD Department of Cardiology, University of Nancy, Hopital de Brabois, Vandoeuvre-lesNancy, France Günter Breithardt MD FESC FACC Professor of Medicine, Department of Cardiology and Angiology, University of Münster, Münster, Germany Francesco Cosentino MD PhD Division of Cardiology, 2nd Faculty of Medicine, La Sapienza University, Ospedale Sant’ Andrea, Rome, Italy Michele Brignole MD FESC Chief of Department of Cardiology, Department of Cardiology, Ospedali de Tigullion, Lavagna, Italy, Filippo Crea MD PhD FESC FACC Professor of Cardiology, Director, Institute of Cardiology, Catholic University of the Sacred Heart, Rome, Italy Pedro Brugada MD PhD Cardiovascular Center, Onze Lieve Vrouw Hospital, Aalst, Belgium Harry JGM Crijns MD PhD FESC Department of Cardiology, University Hospital Maastricht, Maastricht, The Netherlands Dirk Brutsaert MD Laboratory of Physiology, University of Antwerp, Antwerp, Belgium Harry R Büller MD PhD Professor and Chair, Department of Vascular Medicine, University of Amsterdam, Amsterdam, The Netherlands Jean Dallongeville MD PhD Head of Laboratory, Arteriosclerosis Department, Pasteur Institute, Lille, France Werner G Daniel MD FESC FACC Professor of Internal Medicine, Medical Clinic II/Cardiology, University Clinic Erlangen, Erlangen, Germany José A Cabrera MD PhD Director of Arrhythmia Unit, Department of Cardiology, Fundacion Jimenez Diaz, Madrid, Spain John E Deanfield MD FRCP Professor of Cardiology, Great Ormond Street Hospital, London, UK Paolo G Camici MD FESC FACC FAHA FRCP Professor of Cardiovascular Maria Cristina Digilio MD Chief of Dysmorphology, Medical Genetics, Bambino Gesu Hospital, Rome, Italy www.passfans.com/forum Robert Dion MD PhD Professor and Head of Department of Cardiothoracic Surgery, Leiden University Medical Centre, Leiden, The Netherlands Lars Eckardt MD Klinik und Poliklinik C, Universitätsklinikum (Kardiologie/Angiologie), Münster, Germany Raimund Erbel MD Professor of Cardiology, Department of Cardiology, West German Heart Centre, University Duisburg-Essen Robert Fagard MD PhD Professor of Medicine, Hypertension Department, University of Leuven, Leuven, Belgium Erling Falk MD PhD Professor of Cardiovascular Pathology, Department of Cardiology, University of Aarhus, Aarhus, Denmark Jerónimo Farré MD PhD FESC Professor and Chair, Department of Cardiology, Fundacion Jimenez Diaz, Madrid, Spain Pim J de Feyter MD PhD Cardiologist, Erasmus Medical Centre, Rotterdam, The Netherlands Frank A Flachskampf MD FESC FACC Professor of Internal Medicine, Medical Clinic II/Cardiology, University Clinic Erlangen, Erlangen, Germany Keith AA Fox MD FRCP FESC Professor of Cardiology and Head of Medical and Radiological Sciences, Department of Cardiological Research, University of Edinburgh, Edinburgh, UK Kim Fox MD FRCP FESC Professor of Clinical Cardiology, Department of Cardiology, Royal Brompton Hospital, London, UK Pietro Francia MD Division of Cardiology, 2nd Faculty of Medicine, University La Sapienza, Ospedale Sant’ Andrea, Rome, Italy Nazzareno Galiè MD Institute of Cardiology, University of Bologna, Bologna, Italy Roy Gardner MD Department of Cardiology, Western Infirmary, Glasgow, UK Stephan Gielen MD Senior Resident, Department of Cardiology, University of Leipzig, Leipzig, Germany Christianne JM de Groot MD PhD Gynaecologist/Obstetrician, Department of Obstetrics and Gynaecology, Erasmus Medical Centre, Rotterdam, The Netherlands Rainer Hambrecht MD Department of Cardiology, University of Leipzig, Heart Centre, Leipzig, Germany Christian W Hamm MD Professor of Medicine and Medical Director, Abt Für Kardiologie, Kerckhoff Clinic & Max-Planck-Institute, Bad Nauheim, Germany Liv Hatle MD Norwegian University of Technology and Science, Trondheim, Norway Axel Haverich MD Hannover School of Medicine, Department of Cardiology, Hannover, Germany Christopher Heeschen MD Professor for Oncology and Transplantation Medicine, Experimental Surgery, Department of Surgery, LudwigMaximilians-University, Munich, Germany www.passfans.com/forum Otto M Hess MD Department of Cardiology, Universitätsklinik Inselspital, Bern, Switzerland Aroon Hingorani MA PhD FRCP Senior Fellow and Reader in Clinical Pharmacology, Centre for Clinical Pharmacology, Department of Medicine, University College London, London, UK Michel Komajda MD FESC Département de Cardiologie, Pitié Salpêtrière Hospital, Paris, France Paul Kotwinski MD Medical Genetics, Bambino Gesu Hospital, Rome, Italy Gaetano A Lanza MD FESC Università Cattolica di Roma, Istituto di Cardiologia, Rome, Italy Vibeke E Hjortdal MD DMSc PhD Professor of Congenital Heart Surgery, Department of Thoracic and Cardiovascular Surgery, University Hospital of Aarhus, Aarhus, Denmark Christophe Leclercq MD PhD Department de Cardiologie, Centre Cardiopneumologique, Centre Hospitalier Universitaire Pontchaillou, Rennes, France Stefan H Hohnloser MD Professor of Medicine, Department of Cardiology, JW Goethe University, Frankfurt, Germany Cecilia Linde MD PhD FESC Head of Cardiology, Department of Cardiology, Karolinska Hospital, Stockholm, Sweden Stephen Humphries MD Cardiovascular Genetics, British Heart Foundation Laboratories, Royal Free and University College Medical School, London, UK Gregory YH Lip MD FRCP DFM FACC FESC Professor of Cardiovascular Medicine and Director of Haemostasis Thrombosis and Vascular Biology Unit, University Department of Medicine, City Hospital, Birmingham, UK Bernard Iung MD Professor of Cardiology, Cardiology Department, Bichat Hospital, Paris, France Pierre Jaïs MD Service du Professeur Clémenty, Hôpital du Haut Levêque, Bordeaux, France Raymond MacAllister MA MD FRCP Reader in Clinical Pharmacology, Centre for Clinical Pharmacology, Department of Medicine, University College London, London, UK Lukas Kappenberger MD Médecin Chef, Division de Cardiologie, Centre Hospitalier Universitaire Vaudois Lausanne, Lausanne, Switzerland Felix Mahler MD Professor of Angiology, Cardiovascular Department, University Hospital Bern, Bern, Switzerland Philipp A Kaufmann MD Nuclear Medicine and Cardiology, University Hospital Zürich, Zurich, Switzerland Bernhard Maisch MD FESC FACC Professor and Director of Internal Medicine and Cardiology, Phillips University, Marburg, Germany Sverre E Kjeldsen MD PhD FAHA Chief Physician and Professor, Department of Cardiology, Ullevaal University Hospital, Oslo, Norway Marek Malik PhD MD DSc DScMed FACC FESC Department of Cardiac and Vascular www.passfans.com/forum Sciences, St George’s Hospital Medical School, London, UK Guiseppe Mancia MD PhD Professor of Dipartimento di Medicina, Universita Milano-Bicocca in Ospedale San Gerardo Monza, Monza, Italy Bruno Marino MD Professor of Pediatrics and Chief of Pediatric Oncology, Department of Pediatrics, University La Sapienza, Rome, Italy Carlo Di Mario MD Consultant Cardiologist, Catheterization Laboratory, Royal Brompton Hospital, London, UK William McKenna MD FACC FESC Department of Cardiology, The Heart Hospital, London, UK John McMurray BSc (Hons) MBChB (Hons) MD FRCP FESC FACC Professor of Medical Cardiology, Department of Cardiology, Western Infirmary, Glasgow, UK Raad H Mohiaddin MD PhD FRCR FRCP FESC Consultant and Reader in Cardiovascular Imaging Royal Brompton Hospita and Imperial College London S Bertil Olsson MD PhD FESC FAHA MRPhS Professor, Department of Cardiology, University Hospital Lund, Lund, Sweden Dudley J Pennell MD FRCP FACC FESC Director of Cardiovascular Magnetic Resonance Unit, Royal Brompton Hospital, London, UK John Pepper MA MChir FRCS Professor of Cardiothoracic Surgery, Cardiac Department, Royal Brompton Hospital, London, UK Joep Perk MD FESC Consultant, Department of Internal Medicine, Public Health Department, Oskarshamn, Sweden Luc Pierard MD PhD FESC FACC Professor of Medicine and Head of Department of Cardiology, Service de Cardiologie, University Hospital SartTilman, Université de Liège, Liège, Belgium Patrizia Presbitero MD Chief of Interventional Cardiology Department, Istituto Clinico Humanitas, Rozzano, Italy Silvia G Priori MD PhD Associate Professor of Cardiology, University of Pavia, Pavia, Italy John Morgan MA MD FRCP Consultant Cardiologist, Wessex Cardiothoracic Centre, Southampton University Hospital, Southampton, UK Henry Purcell MB PhD Senior Fellow in Cardiology, Department of Cardiology, Royal Brompton Hospital, London, UK Carlo Napolitano MD PhD Senior Research Associate, Molecular Cardiology, Fondazione Salvatore Maugeri, Pavia, Italy Henrik M Reims MD Department of Cardiology, Ullevaal University Hospital, Oslo, Norway Christoph A Nienaber MD Head of Department of Cardiology and Vascular Medicine, Universitats Klinikum Rostock, Rostock, Germany Arsen D Ristic MD FESC Department of Cardiology, Belgrade University Medical School and Institute for Cardiovascular Diseases of the Clinical Center of Serbia, Belgrade, Serbia and Montenegro www.passfans.com/forum Jos Roelandt MD PhD FESC FACC FAHA Professor of Cardiology, Department of Cardiology, Erasmus Medical Center, Rotterdam, The Netherlands Marco Roffi MD Head of Cardiology, University Hospital Zürich, Zürich, Switzerland Jolien W Roos-Hesselink PhD MD Cardiologist, Department of Cardiology, Erasmus Medical Centre, Rotterdam, The Netherlands Annika Rosengren MD Deparment of Medicine, Sahlgrenska University ospital/Ostra, Goteborg, Sweden Lars Ryden MD FRCP DESC FACC Professor of Cardiology, Department of Cardiology, Karolinska Hospital, Stockholm, Sweden Hugo Saner MD Head of Cardiovascuar Prevention and Rehabilitation Inselspital, Swiss Cardiovascular Center Bern, Bern, Switzerland Heinz-Peter Schultheiss MD Professor and Director Cardiology and Pulmonology, University Hospital Benjamin Franklin, Berlin, Germany Peter J Schwartz MD Professor of Department of Cardiology, Policlinico S Metteo IRCCS, Pavia, Italy Udo P Sechtem MD Professor and Head, Department of Cardiology, Robert Bosch Medical Centre, Stuttgart, Germany Co-chairman of Cardiology, Department of Cardiology, University Hospital Bern, Bern, Switzerland Mary N Sheppard MD FRCPath Department of Histopathology, Royal Brompton Hospital, London, UK Gerald Simonneau MD Service de Pneumologie, Hôpital Antoine Béclère, Clamart, France Jordi Soler-Soler MD FESC FACC Professor of Cardiology, Department of Cardiology, University Hospital, Barcelona, Spain Irina Savelieva MD Division of Cardiac and Vascular Sciences, St George’s Hospital Medical School, London, UK Richard Sutton DScMed FRCP FESC Consultant Cardiologist, Royal Brompton Hospital, London, UK Dierk Scheinert MD Department of Clinical and Interventional Angiology, Heartcenter Leipzig, Leipzig, Germany Karl Swedberg MD PhD Professor of Medicine, Department of Medicine, Sahlgrenska University Hospital/Östra, Gothenburg, Sweden Sebastian M Schellong MD Head of Division of Angiology, Division of Vascular Medicine, University Hospital Carl Gustav Carus, Dresden, Germany William D Toff BSc MD MRCP Senior Lecturer in Cardiology, University of Leicester, Leicester, UK Andrej Schmidt MD Department of Clinical and Interventional Angiology, Heartcenter Leipzig, Leipzig, Germany Marko Turina MD Professor of Surgery, University Hospital, Zurich, Switzerland S Richard Underwood MD FRCP FRCR FESC FACC www.passfans.com/forum Professor of Cardiac Imaging, National Heart and Lung Institute, Imperial College, Royal Brompton Hospital, London, UK Alec Vahanian MD Head of Department, Cardiology Department, Hôpital Bichat, Paris, France Patrick Vallance PhD FRCP Professor, Centre for Clinical Pharmacology, The Rayne Institute, London, UK Hein JJ Wellens MD PhD FESC FACC Interuniversity Institute of Cardiology, Maastricht, The Netherlands Frans Van de Werf MD PhD FESC FACC FAHA Professor and Head of Department of Cardiology, Gasthuisberg University Hospital, Leuven, Belgium William Wijns MD PhD Cardiovascular Centre, Onze-Lieve-Vrouw Ziekenhuis, Aalst, Belgium Robert Yates MBBCh FRCP Consultant Fetal and Paediatric Cardiologist, Cardiothoracic Department, Great Ormond Street Hospital for Children, London, UK Felix Zijlstra MD PhD Director of Coronary Care Unit and Catheterization Laboratory, Cardiology Department, Academic Hospital Groningen, Groningen, The Netherlands www.passfans.com/forum Foreword Cardiovascular disease has become the foremost cause of death and permanent disability in western countries, and is set to become the foremost cause of death and permanent disability worldwide by the year 2020 We are confronting a pandemic that will be a heavy burden on the population and that will cause much human suffering The burden on health systems is also considerable in terms of healthcare expenditure, which looks set to continue growing Cardiovascular disease is becoming increasingly common, in particular all types of atherothrombosis This is driven by the rapid increase in the prevalence of risk factors among the world’s population, such as the increasing frequency of obesity, type diabetes, smoking, physical inactivity and psychological stress combined with a gradual increase in consumption of energy-dense foods and lower consumption of fruit and vegetables In this context, the burden of cardiovascular disease will continue to increase with a gradual increase in life expectancy in the population Despite major progress in this field over the last 50 years, there is still much to learn about the progression of cardiovascular disease, particularly in understanding the mechanism of disease, the pathophysiology and evolution of diagnostic methods The explosion of imaging techniques combined with ever more refined biological assays, particularly those based on genomics and proteomics, have all helped to make the diagnosis of cardiovascular diseases considerably more accurate and rapid This exponential progress is the result of very active research and heavy investment in this field This exciting progress has been translated from basic research into clinical management, thanks to active clinical research in cardiovascular disease A large number of clinical trials, surveys and registries have helped us to understand both the impact of cardiovascular disease on the population and the impact of new strategies for diagnosis and management European cardiologists have played an active part in advancing research in cardiovascular disease in basic, clinical and population sciences The overall result is an improvement in diagnostic and therapeutic potential, as well as better prevention measures Patients now benefit from a greater diversity of therapeutic options than ever before The dissemination of this increased knowledge base is of paramount importance because physicians need to be aware of the best evidence concerning the most suitable treatment strategies for a particular disease They need to implement this information in their daily routine practice, and keep abreast of changes and improvements in the management of cardiovascular disease The ESC mission statement is to improve the quality of life of the European population by reducing the burden of cardiovascular disease To fulfil its mission, the ESC has taken on the responsibility of training cardiologists and disseminating knowledge through congress activity, writing and publication of guidelines and, now, publication of The ESC Textbook of Cardiovascular Medicine This is the first textbook to be proposed by an international society of www.passfans.com/forum cardiology More specifically, the goals of the textbook are to address the knowledge requirements specified in the ESC Core Syllabus, to be consistent with ESC Guidelines and best practice and to produce a clinically focused resource for cardiologists and trainees In all, The ESC Textbook of Cardiovascular Medicine is set to become the new benchmark for cardiologists in Europe and beyond The textbook is available in traditional printed format, as well as an online edition complete with CME-accredited self-assessment programmes The online edition will be regularly updated, and it is hoped that translations will be available in the future A large number of prominent European cardiologists have contributed to this comprehensive textbook that covers all aspects of cardiovascular disease from diagnosis to management and prevention As a teaching text, this textbook covers knowledge that every general cardiologist needs to know and keep current, but does not address all the information needs of subspecialists The concise and practical style was deliberately chosen to make this textbook easy to use We would like to take this opportunity to thank all those who have contributed so generously their experience, and time, in order to produce this work, most particularly the authors and the co-editors The wealth of their experience will be invaluable in bringing the most pertinent information to our colleagues throughout Europe and around the world We are confident that this textbook will enjoy wide recognition, and hope that it will become a reference work for cardiologists around the globe Jean-Pierre Bassand President European Society of Cardiology 2002–2004 Michael Tendera President European Society of Cardiology 2004-2006 www.passfans.com/forum TETC16 12/2/05 18:31 Page 502 502 Chapter 16 during antihypertensive treatment is associated with reduced incidence of cardiovascular events, additional to the effects of blood pressure control However, not all antihypertensives are equipotent in this regard ACE inhibitors and AT receptor antagonists appear most efficacious Calcium channel antagonists also decrease left ventricular mass Atenolol, in contrast, has been linked with increased cardiovascular mortality in comparison with other antihypertensives [262] The hydrophilic profile of atenolol, and consequent low permeability into the central nervous system, may account for its apparent ineffectiveness in preventing VF Alcoholic cardiomyopathy Alcoholic cardiomyopathy (ACM), by definition, is a form of dilated cardiomyopathy that occurs secondary to excess long-term alcohol consumption The concept largely predates recognition of the genetic basis of DCM Since the prevalence of heavy alcohol intake far exceeds that of ACM, it is likely that ethanol, as a known myocardial depressant, unmasks an underlying genetic predisposition to DCM Intake of > 90 g of alcohol daily for over years appears to confer an increased risk of ACM [263] The effects of alcohol on the heart appear to be dose dependent but non-linear [264] The threshold for the development of ACM is also lower in women, although reasons underlying this increased sensitivity to alcohol have not been elucidated [265] Two phases are recognized in the natural history of ACM: an asymptomatic stage, characterized by isolated left ventricular enlargement with or without diastolic dysfunction; and a clinically overt stage, during which systolic impairment supervenes, together with signs and symptoms of heart failure The incidence of AF and nonsustained VT appears similar to that of DCM The sudden death rate is also comparable, although prognosis is noticeably more favourable in ACM patients practising abstinence [266] In vitro experiments and animal models have suggested several potential mechanisms for the development of ACM, including ethanol-induced apoptosis of cardiac myocytes, impaired function of the mitochondria and sarcoplasmic reticulum, altered expression of sarcomeric proteins, and abnormal calcium handling The contribution and interplay of these factors in the clinical setting remain to be clarified Heart failure therapy improves ventricular function in ACM, particularly in the presence of alcohol abstinence Increased LVEF has also been documented in the context of continued heavy drinking, but pharmacological therapy does not confer any survival benefit in this subgroup [267] The importance of abstinence in reducing mortality from ACM is therefore underscored A recent study suggests that comparable outcomes may be achieved by controlled moderate drinking [268], although longterm follow-up data in a large cohort will be necessary before this approach can be recommended Metabolic cardiomyopathy The term ‘metabolic cardiomyopathy’ refers to a heterogeneous group of disorders in which myocardial dysfunction occurs as a consequence of a derangement in metabolism Covered previously in this chapter are the cardiac complications of the storage diseases and mutations in AMP kinase, the cellular fuel gauge Nutritional deficits such as thiamine deficiency are well-known causes of a reversible DCM Perhaps the most common form of metabolic cardiomyopathy is that seen in association with diabetes Diabetes is a prominent risk factor for the development of ischaemic heart disease, but there is growing awareness of a direct effect on ventricular function that is independent of obstructed coronary arteries or concurrent hypertension The prevalence of heart failure is considerably higher in diabetic patients than in agematched controls, and a less favourable prognosis has also been reported [269,270] Diabetic cardiomyopathy may account, at least in part, for the increased risk Profound changes in cardiac metabolism occur in diabetes (Table 16.21) Periodic evaluation of diabetic patients may be advisable to ensure early detection of subclinical ventricular dysfunction Optimal glycaemic control and pharmacological therapy with ACE inhibitors/AT receptor antagonists and beta-blockers may attenuate ventricular remodelling and lead to improved survival Muscular dystrophy cardiomyopathy The muscular dystrophies are primary disorders of skeletal and/or cardiac muscle that have a genetic basis Originally defined by the presence of progressive muscle wasting and weakness, the dystrophies are classified according to the distribution and severity of skeletal muscle involvement Many forms of muscular dystrophy are accompanied by myocardial disease, which was previously attributed to processes extrinsic to the heart Weakness of the postural musculature causes lordosis and scoliosis, which impair thoracic movement during respiration Intrinsic disease of the intercostal muscles and diaphragm is also well described The combined result is restrictive lung disease, which may in turn lead to pulmonary hypertension and a secondary cardiomyopathy [271] However, cardiomyopathy in the muscular dystrophies is a consequence of intrinsic myocardial dysfunction www.passfans.com/forum TETC16 12/2/05 18:31 Page 503 Myocardial Disease Table 16.21 Factors that may contribute to myocardial dysfunction in diabetes Obstructive epicardial coronary artery disease Hypertension Disturbances in calcium homeostasis Decreased myosin ATPase activity Decreased uptake of calcium by sarcoplasmic reticulum Inhibition of Na+/K+-ATPase and Ca2+-ATPase Decreased Ca2+ sensitivity of actin–myosin complex Alterations in sarcomeric proteins Shifts in cardiac myosin heavy chain isoforms Effects on myosin light chain-2, troponin I Abnormalities of the microcirculation Oxidative stress Concomitant diabetic autonomic neuropathy Myocardial ischaemia Activated renin–angiotensin system Reduced glucose utilization Marked increase in fatty acid oxidation Reduced rates of lactate oxidation Inhibition of protein synthesis and increased catabolism of amino acids Data from Avogaro et al [270] rather than skeletal muscle disease and respiratory complications Several lines of evidence support this inference Duchenne and Becker muscular dystrophies have been linked to absolute or relative deficiency of the sarcolemmal protein dystrophin Mutations in dystrophin have also been identified in X-linked DCM [272], underlining its role in primary myocardial disease Molecular disruption of dystrophin in both ischaemic heart failure and DCM may be reversible by treatment with LVADs [67] Thus it has been proposed that dystrophin remodelling may provide a final common pathway for contractile impairment in heart failure Histological examination of the heart in Duchenne and Becker muscular dystrophy reveals replacement of the myocardium with connective tissue and fat [273] Similar findings in skeletal muscle suggest a common underlying disease process Equally compelling is the observation that female carriers of Duchenne and Becker muscular dystrophy may have left ventricular dilation in the absence of significant myopathic symptoms [274] In some forms of muscular dystrophy, notably Emery–Dreifuss, locomotor involvement is mild and cardiac manifestations predominate [275] Table 16.22 summarizes cardiac involvement in the muscular dystrophies and myotonic dystrophy Periodic evaluation of affected patients and carriers with 12-lead ECG, two-dimensional echocardiography and ambulatory ECG monitoring is recommended Myotonic dystrophy may occasionally present with cardiac manifestations and should be considered part of the differential diagnosis in a young patient with progressive conduction system disease Treatment is tailored according to the nature of cardiac involvement; conduction defects may require pacing, while standard heart failure therapy is indicated for ventricular dilation and impairment The presence of ventricular tachyarrhythmia in myotonic dystrophy may prompt the use of an ICD, as sudden death is a recognized complication Peripartum cardiomyopathy Peripartum cardiomyopathy (PPCM) is defined as left ventricular systolic impairment in the presence of the following additional criteria: presentation within month of delivery or during the first months post-partum; absence of pre-existing cardiac disease; and no other cause for cardiac dysfunction Underlying cardiac disorders that are unmasked by the haemodynamic stress of a normal pregnancy are thereby excluded [276,277] Prevalence and aetiology The true incidence has not been established, although existing data suggest a frequency of between in 3000 and in 10 000 pregnancies [278] This is likely to be an underestimate, as mild forms of PPCM probably remain unrecognized because of the prevalence of exertional dyspnoea and ankle oedema in the last trimester The aetiology of PPCM also remains uncertain (Table 16.23) Endomyocardial biopsies demonstrate features of myocarditis in up to 62% of cases [279], suggesting an inflammatory component However, there does not appear to be any association between the presence of myocarditis and the clinical outcome Malnutrition has been cited as a possible factor; women with PPCM in certain geographical areas have low plasma levels of selenium [280] Others, however, appear to have good nutritional status Viral infection has been postulated, although recurrence in subsequent pregnancies is less easy to explain on this basis One intriguing possibility is that of an abnormal immune response during pregnancy [281], which has also been implicated in the pathogenesis of pre-eclampsia Finally, familial occurrence of PPCM has been reported [282] The most likely explanation is that PPCM is a manifestation of familial DCM, with the cardiovascular burden of pregnancy uncovering previously www.passfans.com/forum 503 TETC16 12/2/05 18:31 Page 504 504 Chapter 16 Table 16.22 Cardiac involvement in muscular dystrophies Type Inheritance Gene affected Mechanism of disease expression Extracardiac manifestations Cardiac involvement Duchenne X-linked Dystrophin gene at Xp21 Dystrophin serves as a bridge between the cytoskeletal protein actin (at the N-terminus) and the transmembrane protein β-dystroglycan (at the C-terminus) Absence of dystrophin leads to disruption of the mechanical link between the sarcolemma and the extracellular matrix Childhood onset Progressive proximal myopathy Wheelchair-bound by teens Dilated cardiomyopathy Becker X-linked Dystrophin gene at Xp21 Dystrophin present but reduced in quantity or otherwise abnormal Onset age 12 or later in life Proximal myopathy Slowly progressive Dilated cardiomyopathy Emery– Dreifuss X-linked STA gene at Xq28 AD, rarely AR LMNA gene at 1q21 Emerin is an integral protein of the inner nuclear membrane Lamins A and C are also nuclear envelope proteins Contractures at ankles, elbows and neck Slowly progressive myopathy Humeroperoneal distribution Atrial flutter/fibrillation ‘Isolated atrial standstill’; low-amplitude or absent P waves; atria unresponsive to pacing Ventricular pacing indicated Massive atrial dilation; anticoagulants advised Dilated cardiomyopathy Sudden death AD DMPK gene at 19q13.3 Abnormal expansion of a trinucleotide cytosinethymine-guanine sequence in the myotonin protein kinase gene (DMPK) 35 copies or less of CTG repeat in normal subjects; 50–2000 in myotonic patients May demonstrate genetic anticipation Exact function of DMPK unknown; localized to intercalated discs; can modify actin cytoskeleton Myotonia Weakness of facial, pharyngeal and distal limb muscles Diabetes, thyroid dysfunction Cataracts Conduction system defects (prolonged PR interval and/or wide QRS on ECG; pacing may be required) Atrial flutter/fibrillation Ventricular tachyarrhythmia Sudden cardiac death Mitral valve prolapse LV dilation and/or systolic impairment Left ventricular hypertrophy Myotonic (type 1) AD, autosomal dominant; AR, autosomal recessive; LV, left ventricle unrecognized subclinical disease This possibility is supported by anectodal evidence but warrants further prospective evaluation Clinical presentation Patients with PPCM typically present with symptoms of left ventricular failure, such as orthopnoea and par- oxysmal nocturnal dyspnoea Repetitive monomorphic VT and systemic thromboembolism have also been reported The findings on physical examination may be difficult to interpret as a third heart sound and ejection systolic murmur are present in more than 90% of normal pregnant women Similarly, slight leftward deviation of the QRS axis is a normal ECG feature during pregnancy Non-specific ST-segment changes and supraventricular www.passfans.com/forum TETC16 12/2/05 18:31 Page 505 Myocardial Disease Table 16.23 Risk factors for the development of peripartum cardiomyopathy Increasing maternal age Multiparity Multiple pregnancy Pre-eclampsia Gestational hypertension Afro-Caribbean Familial occurrence Malnutrition Cocaine use by mother Long-term tocolytic therapy Selenium deficiency Chlamydia infection Enterovirus infection refractory ventricular failure, the potential risks to the fetus from ACE inhibitor therapy should perhaps be balanced against the urgent need to optimize ventricular function to ensure a positive outcome for both mother and baby Pregnancy per se is a hypercoagulable state, and the risk of thromboembolism is further enhanced by bed rest, diuretic therapy and impaired ventricular function Prophylactic doses of low-molecular-weight heparin are appropriate during pregnancy; warfarin may be instituted following delivery Prognosis and outcome Data from de Beus et al [276] and James [277] or ventricular extrasystoles are often seen in PPCM Two-dimensional echocardiography is the principal investigation Left ventricular systolic impairment is requisite for diagnosis, with some authors recommending strict echocardiographic criteria: LVEF < 45% and/or fractional shortening < 30% plus left ventricular enddiastolic measurement of 2.7 cm/m2 body surface area Dilation of cardiac chambers may also be present, particularly in patients presenting more than month after delivery Management Standard therapy for left ventricular failure is employed in PPCM Cardiogenic shock may necessitate insertion of an intra-aortic balloon pump In the absence of significant decompensation, however, PPCM may be managed on an out-patient basis ACE inhibitors and AT receptor antagonists are contraindicated after the first trimester owing to the potential for adverse effects on the fetus (oligohydramnios and its consequences, i.e limb deformities, cranial ossification deficits, lung hypoplasia) and neonate (hypotension and renal failure) However, beneficial rescue therapy with a low-dose, short-acting ACE inhibitor has been reported in a small series of pregnant women with severe resistant vasoconstrictive hypertension [283] Serial assessment of amniotic fluid volume was conducted and delivery was remote from maternal dosing There were no fetal or neonatal complications; improved haemodynamics were observed in the mothers, with successful continuation of pregnancy In a multicentre survey of the management of PPCM in current practice, 6% of perinatologists reported using ACE inhibitors during pregnancy [284] In cases of severe Reports of the long-term prognosis in PPCM are highly variable Many patients experience symptomatic improvement, accompanied by complete or partial recovery of left ventricular function However, a few progress to endstage heart failure In a retrospective series of 42 patients with PPCM followed up for an average of years, death was recorded in 7% and a similar proportion underwent cardiac transplantation Left ventricular function normalized in 43% Earlier studies indicated a less favourable clinical outcome, with mortality rates of up to 56% [285] Death usually results from worsening pump failure, although systemic thromboembolism and ventricular tachyarrhythmia have been documented Predictors of high risk are lacking at present, but a combined strategy of early recognition and aggressive medical therapy is recommended Counselling patients with PPCM on the issue of future pregnancies poses a major clinical challenge because of potential recurrences of symptomatic heart failure It has been suggested that subclinical ventricular dysfunction persists in many patients, and the haemodynamic burden of another pregnancy precipitates decompensation Reactivation of a pregnancy-related disease process may also be invoked Surveys of subsequent pregnancies in survivors of PPCM have elicited the following findings [286] Left ventricular dysfunction and clinical deterioration may recur in the mother The incidence of complications is higher (up to 50%) in women with incomplete recovery of ventricular function Maternal deaths are more likely to occur An increased incidence of fetal prematurity and loss is also reported in this subgroup Women in whom ventricular function has normalized prior to pregnancy are at very low risk of death Symptomatic heart failure may nonetheless recur in around 20% and result in persistent left ventricular impairment Careful monitoring is therefore warranted www.passfans.com/forum 505 TETC16 12/2/05 18:31 Page 506 506 Chapter 16 Personal perspective Myocardial diseases represent a large spectrum of inherited and acquired forms of heart muscle disease The term ‘cardiomyopathy’ has been used in the past to describe primary forms of myocardial disease of unknown aetiology However, in the past few years it has become evident that most of the primary forms are genetically transmitted, affecting the sarcomeric genes in HCM and the cytoskeleton-encoding genes in DCM Secondary forms may represent HCM or DCM and are, References Geisterfer-Lowrance AA, Kass S, Tanigawa G et al A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation Cell 1990; 62: 999 –1006 Watkins H, McKenna WJ, Thierfelder L et al Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy N Engl J Med 1995; 332: 1058 –1064 Charron P, Carrier L, Dubourg O et al Penetrance of familial hypertrophic cardiomyopathy Genet Couns 1997; 8: 107–114 Sachdev B, Takenaka T, Teraguchi H et al Prevalence of Anderson–Fabry disease in male patients with late onset hypertrophic cardiomyopathy Circulation 2002; 105: 1407–1411 Charron P, Villard E, Sebillon P et al Danon’s disease as a cause of hypertrophic cardiomyopathy: a systematic survey Heart 2004; 90: 842–846 Marian AJ Pathogenesis of diverse clinical and pathological phenotypes in hypertrophic cardiomyopathy Lancet 2000; 355: 58–60 Lankford EB, Epstein ND, Fananapazir L, Sweeney HL Abnormal contractile properties of muscle fibers expressing beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy J Clin Invest 1995; 95: 1409 –1414 Watkins H, Seidman CE, Seidman JG, Feng HS, Sweeney HL Expression and functional assessment of a truncated cardiac troponin T that causes hypertrophic cardiomyopathy Evidence for a dominant negative action J Clin Invest 1996; 98: 2456 –2461 Lowey S Functional consequences of mutations in the myosin heavy chain at sites implicated in familial hypertrophic cardiomyopathy Trends Cardiovasc Med 2002; 12: 348–354 10 Lin D, Bobkova A, Homsher E, Tobacman LS Altered cardiac troponin T in vitro function in the presence of a mutation implicated in familial hypertrophic cardiomyopathy J Clin Invest 1996; 97: 2842 –2848 as in the primary forms, most frequently genetically transmitted (e.g amyloidosis, haemochromatosis, glycogen storage diseases, Fabry’s disease) True secondary forms of myocardial disease are ischaemic, alcoholic or hypertensive heart disease, which are also genetically determined but which may mimic the cardiac phenotype of HCM or DCM Thus most forms of myocardial disease today represent inherited forms of heart disease 11 Sweeney HL, Feng HS, Yang Z, Watkins H Functional analyses of troponin T mutations that cause hypertrophic cardiomyopathy: insights into disease pathogenesis and troponin function Proc Natl Acad Sci USA 1998; 95: 14406 –14410 12 Michele DE, Albayya FP, Metzger JM Direct, convergent hypersensitivity of calcium-activated force generation produced by hypertrophic cardiomyopathy mutant alphatropomyosins in adult cardiac myocytes Nat Med 1999; 5: 1413 –1417 13 Ashrafian H, Redwood C, Blair E, Watkins H Hypertrophic cardiomyopathy: a paradigm for myocardial energy depletion Trends Genet 2003; 19: 263–268 14 Ristow M, Pfister MF, Yee AJ et al Frataxin activates mitochondrial energy conversion and oxidative phosphorylation Proc Natl Acad Sci USA 2000; 97: 12239 –12243 15 Blair E, Redwood C, Ashrafian H et al Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis Hum Mol Genet 2001; 10: 1215–1220 16 Lucke T, Hoppner W, Schmidt E, Illsinger S, Das AM Fabry disease: reduced activities of respiratory chain enzymes with decreased levels of energy-rich phosphates in fibroblasts Mol Genet Metab 2004; 82: 93–97 17 Crilley JG, Boehm EA, Blair E et al Hypertrophic cardiomyopathy due to sarcomeric gene mutations is characterized by impaired energy metabolism irrespective of the degree of hypertrophy J Am Coll Cardiol 2003; 41: 1776 –1782 18 Krams R, Kofflard MJ, Duncker DJ et al Decreased coronary flow reserve in hypertrophic cardiomyopathy is related to remodeling of the coronary microcirculation Circulation 1998; 97: 230–233 19 Krams R, Ten Cate FJ, Carlier SG, Van Der Steen AF, Serruys PW Diastolic coronary vascular reserve: a new index to detect changes in the coronary microcirculation in hypertrophic cardiomyopathy J Am Coll Cardiol 2004; 43: 670–677 20 Levine RA, Vlahakes GJ, Lefebvre X et al Papillary muscle displacement causes systolic anterior motion of the mitral valve Experimental validation and insights into the www.passfans.com/forum TETC16 12/2/05 18:31 Page 507 Myocardial Disease 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 mechanism of subaortic obstruction Circulation 1995; 91: 1189 –1195 Sherrid MV, Gunsburg DZ, Moldenhauer S, Pearle G Systolic anterior motion begins at low left ventricular outflow tract velocity in obstructive hypertrophic cardiomyopathy J Am Coll Cardiol 2000; 36: 1344 –1354 Lim PO, Morris-Thurgood JA, Frenneaux MP Vascular mechanisms of sudden death in hypertrophic cardiomyopathy, including blood pressure responses to exercise Cardiol Rev 2002; 10: 15–23 Spirito P, Maron BJ, Bonow RO, Epstein SE Occurrence and significance of progressive left ventricular wall thinning and relative cavity dilatation in hypertrophic cardiomyopathy Am J Cardiol 1987; 60: 123–129 Thaman R, Gimeno JR, Reith S et al Progressive left ventricular remodeling in patients with hypertrophic cardiomyopathy and severe left ventricular hypertrophy J Am Coll Cardiol 2004; 44: 398–405 Maron BJ, McKenna WJ, Danielson GK et al A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the European Society of Cardiology Committee for Practice Guidelines J Am Coll Cardiol 2003; 42: 1687–1713 McKenna WJ, Spirito P, Desnos M, Dubourg O, Komajda M Experience from clinical genetics in hypertrophic cardiomyopathy: proposal for new diagnostic criteria in adult members of affected families Heart 1997; 77: 130–132 Wigle ED, Rakowski H, Kimball BP, Williams WG Hypertrophic cardiomyopathy: clinical spectrum and treatment Circulation 1995; 92: 1680 –1692 Maron BJ Hypertrophic cardiomyopathy: a systematic review JAMA 2002; 287: 1308–1320 Spirito P, Maron BJ Perspectives on the role of new treatment strategies in hypertrophic obstructive cardiomyopathy J Am Coll Cardiol 1999; 33: 1071–1075 Hess OM, Sigwart U New treatment strategies for hypertrophic obstructive cardiomyopathy Alcohol ablation of the septum: the new gold standard? J Am Coll Cardiol 2004; 44: 2054 –2055 Maron BJ, Shen WK, Link MS et al Efficacy of implantable cardioverter-defibrillators for the prevention of sudden death in patients with hypertrophic cardiomyopathy N Engl J Med 2000; 342: 365–373 Seiler Ch, Hess OM, Schoenbeck M et al Long-term follow-up of medical versus surgical therapy for hypertrophic cardiomyopathy: a retrospective study J Am Coll Cardiol 1991; 17: 634–642 Woo A, Williams WG, Choi R et al Clinical and ecochardiographic determinants of long-term survival after surgical myectomy in obstructive hypertrophic cardiomyopathy Circulation 2005; 111: 2033 –2041 Sigwart U Non-surgical myocardial reduction for hypertrophic obstructive cardiomyopathy Lancet 1995; 346: 211–214 Seggewiss H, Faber L, Ziemssen P, Gleichmann U [Oneyear follow-up after echocardiographically-guided percutaneous septal ablation in hypertrophic obstructive 36 37 38 39 40 41 42 43 44 45 46 47 cardiomyopathy] Dtsch Med Wochenschr 2001; 126: 424 –430 Faber L, Meissner A, Ziemssen P, Seggewiss H Percutaneous transluminal septal myocardial ablation for hypertrophic obstructive cardiomyopathy: long term follow-up of the first series of 25 patients Heart 2000; 83: 326–331 Spirito P, Bellone P, Harris KM et al Magnitude of left ventricular hypertrophy and risk of sudden death in hypertrophic cardiomyopathy N Engl J Med 2000; 342: 1778 –1785 Richardson P, McKenna W, Bristow M et al Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of Cardiomyopathies Circulation 1996; 93: 841–842 Noutsias M, Seeberg B, Schultheiss HP, Kühl U Expression of cell adhesion molecules in dilated cardiomyopathy: evidence for endothelial activation in inflammatory cardiomyopathy Circulation 1999; 99: 2124–2131 Dettmeyer R, Reith K, Madea B Alcoholic cardiomyopathy versus chronic myocarditis: immunohistological investigations with LCA, CD3, CD68 and tenascin Forensic Sci Int 2002; 126: 57–62 Mahon NG, Madden BP, Caforio AL et al Immunohistologic evidence of myocardial disease in apparently healthy relatives of patients with dilated cardiomyopathy J Am Coll Cardiol 2002; 39: 455–462 Kühl U, Pauschinger M, Noutsias M et al High prevalence of viral genomes and multiple viral infections in the myocardium of adults with ‘idiopathic’ left ventricular dysfunction Circulation 2005; 111: 887–893 Frustaci A, Chimenti C, Ricci R et al Improvement in cardiac function in the cardiac variant of Fabry’s disease with galactose-infusion therapy N Engl J Med 2001; 345: 25–32 Kühl U, Pauschinger M, Schwimmbeck PL et al Interferonbeta treatment eliminates cardiotropic viruses and improves left ventricular function in patients with myocardial persistence of viral genomes and left ventricular dysfunction Circulation 2003; 107: 2793 –2798 Frustaci A, Chimenti C, Calabrese F, Pieroni M, Thiene G, Maseri A Immunosuppressive therapy for active lymphocytic myocarditis: virological and immunologic profile of responders versus nonresponders Circulation 2003; 107: 857–863 Wojnicz R, Nowalany-Kozielska E, Wojciechowska C et al Randomized, placebo-controlled study for immunosuppressive treatment of inflammatory dilated cardiomyopathy: two-year follow-up results Circulation 2001; 104: 39–45 Baig MK, Goldman JH, Caforio AL, Coonar AS, Keeling PJ, McKenna WJ Familial dilated cardiomyopathy: cardiac abnormalities are common in asymptomatic relatives and may represent early disease J Am Coll Cardiol 1998; 31: 195–201 www.passfans.com/forum 507 TETC16 12/2/05 18:31 Page 508 508 Chapter 16 48 Mestroni L, Maisch B, McKenna WJ et al Guidelines for the study of familial dilated cardiomyopathies Collaborative Research Group of the European Human and Capital Mobility Project on Familial Dilated Cardiomyopathy Eur Heart J 1999; 20: 93–102 49 Mason JW Myocarditis and dilated cardiomyopathy: an inflammatory link Cardiovasc Res 2003; 60: 5–10 50 Zhang H, Li Y, McClean DR et al Detection of enterovirus capsid protein VP1 in myocardium from cases of myocarditis or dilated cardiomyopathy by immunohistochemistry: further evidence of enterovirus persistence in myocytes Med Microbiol Immunol (Berl) 2004; 193: 109–114 51 Andreoletti L, Bourlet T, Moukassa D et al Enteroviruses can persist with or without active viral replication in cardiac tissue of patients with end-stage ischemic or dilated cardiomyopathy J Infect Dis 2000; 182: 1222 –1227 52 Caforio AL, Mahon NJ, Tona F, McKenna WJ Circulating cardiac autoantibodies in dilated cardiomyopathy and myocarditis: pathogenetic and clinical significance Eur J Heart Fail 2002; 4: 411–417 53 Mahon NG, Zal B, Arno G et al Absence of viral nucleic acids in early and late dilated cardiomyopathy Heart 2001; 86: 687–692 54 Towbin JA, Bowles NE The failing heart Nature 2002; 415: 227–233 55 Hoffman EP, Brown RH Jr, Kunkel LM Dystrophin: the protein product of the Duchenne muscular dystrophy locus Cell 1987; 51: 919–928 56 Lapidos KA, Kakkar R, McNally EM The dystrophin glycoprotein complex: signaling strength and integrity for the sarcolemma Circ Res 2004; 94: 1023 –1031 57 Mogensen J, Klausen IC, Pedersen AK et al Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy J Clin Invest 1999; 103: R39–R43 58 Olson TM, Kishimoto NY, Whitby FG, Michels VV Mutations that alter the surface charge of alphatropomyosin are associated with dilated cardiomyopathy J Mol Cell Cardiol 2001; 33: 723–732 59 Bowles NE, Bowles KR, Towbin JA The ‘final common pathway’ hypothesis and inherited cardiovascular disease The role of cytoskeletal proteins in dilated cardiomyopathy Herz 2000; 25: 168–175 60 Vatta M, Mohapatra B, Jimenez S et al Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction J Am Coll Cardiol 2003; 42: 2014 –2027 61 Crispell KA, Hanson EL, Coates K, Toy W, Hershberger RE Periodic rescreening is indicated for family members at risk of developing familial dilated cardiomyopathy J Am Coll Cardiol 2002; 39: 1503 –1507 62 Mogensen J, Murphy RT, Shaw T et al Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy J Am Coll Cardiol 2004; 44: 2033 –2040 63 Murphy RT, Mogensen J, Shaw A, Kubo T, Hughes S, McKenna WJ Novel mutation in cardiac troponin I in 64 65 66 67 68 69 70 71 72 73 74 75 76 77 78 recessive idiopathic dilated cardiomyopathy Lancet 2004; 363: 371–372 Schmitt JP, Kamisago M, Asahi M et al Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban Science 2003; 299: 1410–1413 Lammerding J, Schulze PC, Takahashi T et al Lamin A/C deficiency causes defective nuclear mechanics and mechanotransduction J Clin Invest 2004; 113: 370–378 Vohanka S, Vytopil M, Bednarik J et al A mutation in the X-linked Emery–Dreifuss muscular dystrophy gene in a patient affected with conduction cardiomyopathy Neuromuscul Disord 2001; 11: 411–413 Vatta M, Stetson SJ, Perez-Verdia A et al Molecular remodelling of dystrophin in patients with end-stage cardiomyopathies and reversal in patients on assistancedevice therapy Lancet 2002; 359: 936–941 Di Lenarda A, Pinamonti B, Mestroni L et al The natural history of dilated cardiomyopathy: a review of the Heart Disease Registry of Trieste Ital Heart J Suppl 2004; 5: 253–266 Michels VV, Driscoll DJ, Miller FA et al Progression of familial and non-familial dilated cardiomyopathy: a long term follow-up Heart 2003; 89: 757–761 Cicoira M, Zanolla L, Latina L et al Frequency, prognosis and predictors of improvement of left ventricular function in patients with classical clinical diagnosis of idiopathic dilated cardiomyopathy Eur J Heart Fail 2001; 3: 323–330 Bahler RC Assessment of prognosis in idiopathic dilated cardiomyopathy Chest 2002; 121: 1016–1019 McKee PA, Castelli WP, McNamara PM et al The natural history of congestive heart failure: the Framingham study N Engl J Med 1971; 285: 1441–1446 Drazner MH, Rame JE, Stevenson LW et al Prognostic importance of elevated jugular venous pressure and a third heart sound in patients with heart failure N Engl J Med 2001; 345: 574–581 Remondino A, Kwon SH, Communal C et al β-Adrenergic receptor-stimulated apoptosis in cardiac myocytes is mediated by reactive oxygen species/c-Jun NH2-terminal kinase-dependent activation of the mitochondrial pathway Circ Res 2003; 92: 136–138 Leri A, Claudio PP, Li Q et al Stretch-mediated release of angiotensin II induces myocyte apoptosis by activating p53 that enhances the local renin–angiotensin system and decreases the Bcl-2-to-Bax protein ratio in the cell J Clin Invest 1998; 101: 1326 –1342 Ing DJ, Zang J, Dzau VJ et al Modulation of cytokineinduced cardiac myocyte apoptosis by nitric oxide, Bak, and Bcl-x Circ Res 1999; 84: 21–33 Rockman HA, Chein KR, Choi DJ et al Expression of beta adrenergic receptor kinase inhibitor prevents the development of myocardial failure in gene-targeted mice Proc Natl Acad Sci USA 1998; 95: 7000 –7005 Bristow MR, O’Connell GP, Gilbert EM et al Doseresponse of chronic β-blocker treatment in heart failure from either idiopathic dilated or ischemic cardiomyopathy Circulation 1994; 89: 2807–2816 www.passfans.com/forum TETC16 12/2/05 18:31 Page 509 Myocardial Disease 79 Schmidt AG, Edes I, Kranias EG Phospholamban: a promising new therapeutic target in heart failure? Cardiovasc Drugs Ther 2001; 15: 387–396 80 Song Q, Schmidt AG, Hahn HS et al Rescue of cardiomyocyte dysfunction by phospholamban ablation does not prevent ventricular failure in genetic hypertrophy J Clin Invest 2003; 111: 859–567 81 McFarlane SI, Winer N, Sowers JR et al Role of the natriuretic peptide system in cardiorenal protection Arch Intern Med 2003; 163: 2696 –2704 82 Leinwand LA Sex is potent modifier of the cardiovascular system J Clin Invest 2003; 112: 302–307 83 de Lemos LA, McGuire DK, Drazner MH B-natriuretic peptide in cardiovascular disease Lancet 2003; 362: 316–322 84 Throughton RW, Frampton CM, Yandle TG et al Treatment of heart failure by plasma aminoterminal brain-natriuretic peptide (N-BNP) concentrations Lancet 2000; 355: 1112–1113 85 Tsutamoto T, Hisanaga T, Wada A et al Interleukin-6 spillover in the peripheral circulation increases with the severity of heart failure, and the high plasma level of interleukin-6 is an important prognostic predictor in patients with CHF J Am Coll Cardiol 1998; 31: 391–398 86 Vrtovec B, Delgado R, Zewail A et al Prolonged QTc interval and B-natriuretic peptide levels together predict mortality in patients with advanced heart failure Circulation 2003; 107: 1764 –1769 87 Grünig E, Benz A, Mereles D et al Prognostic value of serial cardiac assessment and familial screening in patients with dilated cardiomyopathy Eur J Heart Fail 2003; 5: 55–62 88 Romano MA, Bolling SF Update on mitral valve repair in dilated cardiomyopathy J Cardiovasc Surg (Torino) 2004; 19: 396–400 89 Stelken AM, Younis LT, Jennison SH et al Prognostic value of cardiopulmonary exercise testing using percent achieved of predicted peak oxygen uptake for patients with ischemic and dilated cardiomyopathy J Am Coll Cardiol 1996; 27: 345–352 90 Gitt AK, Wasserman K, Kilkowski C et al Exercise anaerobic threshold and ventilatory efficiency identify heart failure patients for high risk of early death Circulation 2002; 106: 3079–3084 91 Al-Saadi N, Nagel E, Gross M et al Non-invasive detection of myocardial ischemia from perfusion based on nuclear magnetic resonance Circulation 2000; 101: 1379 –1383 92 Kim RJ, Fieno DS, Parrish TB et al Relation of MRI delayed contrast enhancement to irreversible injury, infarct age, and contractile function Circulation 1999; 100: 1992–2000 93 Hunt SA, Baker DW, Chin MH et al ACC/AHA guidelines for the evaluation and management of chronic heart failure in the adult Circulation 2001; 104: 2996 –3007 94 Young JB, Dunlap ME, Pfeffer MA et al Mortality and morbidity reduction with Candesartan in patients with chronic heart failure and left ventricular systolic dysfunction: results of the CHARM low-left ventricular ejection fraction trials Circulation 2004; 110: 2618 –2626 95 Fauchier L, Babuty D, Poret P et al Comparison of longterm outcome of alcoholic and idiopathic dilated cardiomyopathy Eur Heart J 2000; 21: 306–314 96 Belardinelli R, Georgiou D, Cianci G, Purcaro A Randomized, controlled trial of long-term moderate exercise training in chronic heart failure: effects on functional capacity, quality of life, and clinical outcome Circulation 1999; 99: 1173 –1182 97 Cazeau S, Leclercq C, Lavergne T et al Effects of multisite biventricular pacing in patients with heart failure and intraventricular conduction delay N Engl J Med 2001; 344: 873–880 98 Abraham WT, Fisher WG, Smith AL et al Cardiac resynchronization in chronic heart failure N Engl J Med 2002; 346: 1845 –1853 99 Bristow MR, Saxon LA, Boehmer J et al Cardiacresynchronization therapy with or without an implantable defibrillator in advanced chronic heart failure N Engl J Med 2004; 350: 2140 –2150 100 O’Connell JB, Breen TJ, Hosenpud JD Heart transplantation in dilated heart muscle disease and myocarditis Eur Heart J 1995; 16 (suppl O): 137–139 101 Hetzer R, Muller JH, Weng YG, Loebe M, Wallukat G Midterm follow-up of patients who underwent removal of a left ventricular assist device after cardiac recovery from end-stage dilated cardiomyopathy J Thorac Cardiovasc Surg 2000; 120: 843–853 102 Yacoub MH A novel strategy to maximize the efficacy of left ventricular assist devices as a bridge to recovery Eur Heart J 2001; 22: 534–540 103 Birks EJ, Yacoub MH, Banner NR, Khaghani A The role of bridge to transplantation: should LVAD patients be transplanted? Curr Opin Cardiol 2004; 19: 148–153 104 Franco-Cereceda A, McCarthy PM, Blackstone EH et al Partial left ventriculectomy for dilated cardiomyopathy: is this an alternative to transplantation? J Thorac Cardiovasc Surg 2001; 121: 879–893 105 Grimm W, Hoffmann J, Menz V, Luck K, Maisch B Programmed ventricular stimulation for arrhythmia risk prediction in patients with idiopathic dilated cardiomyopathy and nonsustained ventricular tachycardia J Am Coll Cardiol 1998; 32: 739–745 106 Fruhwald FM, Eber B, Schumacher M, Zweiker R, Watzinger N, Klein WW Syncope in dilated cardiomyopathy is a predictor of sudden cardiac death Cardiology 1996; 87: 177–180 107 Grimm W, Glaveris C, Hoffmann J et al Arrhythmia risk stratification in idiopathic dilated cardiomyopathy based on echocardiography and 12-lead, signal-averaged, and 24-hour Holter electrocardiography Am Heart J 2000; 140: 43–51 108 Zecchin M, Di Lenarda A, Proclemer A et al The role of implantable cardioverter defibrillator for primary vs secondary prevention of sudden death in patients with idiopathic dilated cardiomyopathy Europace 2004; 6: 400–406 109 Metoprolol CR/XL Randomised Intervention Trial in Congestive Heart Failure (MERIT-HF) Effect of metoprolol www.passfans.com/forum 509 TETC16 12/2/05 18:31 Page 510 510 Chapter 16 110 111 112 113 114 115 116 117 118 119 120 121 122 123 CR/XL in chronic heart failure Lancet 1999; 353: 2001–2007 Pitt B, Zannad F, Remme WJ et al The effect of spironolactone on morbidity and mortality in patients with severe heart failure N Engl J Med 1999; 341: 709–717 Hohnloser SH, Klingenheben T, Bloomfield D, Dabbous O, Cohen RJ Usefulness of microvolt T-wave alternans for prediction of ventricular tachyarrhythmic events in patients with dilated cardiomyopathy: results from a prospective observational study J Am Coll Cardiol 2003; 41: 2220 –2224 Strickberger SA, Hummel JD, Bartlett TG et al Amiodarone versus implantable cardioverter-defibrillator: randomized trial in patients with nonischemic dilated cardiomyopathy and asymptomatic nonsustained ventricular tachycardia J Am Coll Cardiol 2003; 41: 1707–1712 Bardy GH, Lee KL, Mark DB et al Amiodarone or an implantable cardioverter-defibrillator for congestive heart failure N Engl J Med 2005; 352: 225–237 Stroke Prevention in Atrial Fibrillation Investigators Predictors of thromboembolism in atrial fibrillation II Echocardiographic features of patients at risk Ann Intern Med 1992; 116: 6–12 Dries DL, Rosenberg YD, Waclawiw MA, Domanski MJ Ejection fraction and risk of thromboembolic events in patients with systolic dysfunction and sinus rhythm: evidence for gender differences in the studies of left ventricular dysfunction trials J Am Coll Cardiol 1997; 29: 1074 –1080 Diet F, Erdmann E Thromboembolism in heart failure: who should be treated? Eur J Heart Fail 2000; 2: 355–363 Koniaris LS, Goldhaber SZ Anticoagulation in dilated cardiomyopathy J Am Coll Cardiol 1998; 31: 745–748 Massie BM, Krol WF, Ammon SE et al The Warfarin and Antiplatelet Therapy in Heart Failure trial (WATCH): rationale, design, and baseline patient characteristics J Card Fail 2004; 10: 101–112 Crispell KA, Wray A, Ni H, Nauman DJ, Hershberger RE Clinical profiles of four large pedigrees with familial dilated cardiomyopathy: preliminary recommendations for clinical practice J Am Coll Cardiol 1999; 34: 837–847 Sugrue DD, Rodeheffer RJ, Codd MB, Ballard DJ, Fuster V, Gersh BJ The clinical course of idiopathic dilated cardiomyopathy A population-based study Ann Intern Med 1992; 117: 117–123 Bansch D, Antz M, Boczor S et al Primary prevention of sudden cardiac death in idiopathic dilated cardiomyopathy: the Cardiomyopathy Trial (CAT) Circulation 2002; 105: 1453 –1458 McCarthy RE III, Boehmer JP, Hruban RH et al Long-term outcome of fulminant myocarditis as compared with acute (nonfulminant) myocarditis N Engl J Med 2000; 342: 690–695 Steimle AE, Stevenson LW, Fonarow GC, Hamilton MA, Moriguchi JD Prediction of improvement in recent onset cardiomyopathy after referral for heart transplantation J Am Coll Cardiol 1994; 23: 553–559 124 Dec GW Jr, Palacios IF, Fallon JT et al Active myocarditis in the spectrum of acute dilated cardiomyopathies Clinical features, histologic correlates, and clinical outcome N Engl J Med 1985; 312: 885–890 125 Schaufelberger M, Swedberg K, Koster M, Rosen M, Rosengren A Decreasing one-year mortality and hospitalization rates for heart failure in Sweden: data from the Swedish Hospital Discharge Registry 1988 to 2000 Eur Heart J 2004; 25: 300–307 126 Why HJ, Meany BT, Richardson PJ et al Clinical and prognostic significance of detection of enteroviral RNA in the myocardium of patients with myocarditis or dilated cardiomyopathy Circulation 1994; 89: 2582–2589 127 Fujioka S, Kitaura Y, Ukimura A et al Evaluation of viral infection in the myocardium of patients with idiopathic dilated cardiomyopathy J Am Coll Cardiol 2000; 36: 1920 –1926 128 Kanzaki Y, Terasaki F, Okabe M et al Myocardial inflammatory cell infiltrates in cases of dilated cardiomyopathy as a determinant of outcome following partial left ventriculectomy Jpn Circ J 2001; 65: 797–802 129 Limas CJ, Hasikidis C, Iakovou J, Kroupis C, Haidaroglou A, Cokkinos DV Prognostic significance of soluble interleukin-2 receptor levels in patients with dilated cardiomyopathy Eur J Clin Invest 2003; 33: 443–448 130 Grimm W, Rudolph S, Christ M, Pankuweit S, Maisch B Prognostic significance of morphometric endomyocardial biopsy analysis in patients with idiopathic dilated cardiomyopathy Am Heart J 2003; 146: 372–376 131 Grogan M, Redfield MM, Bailey KR et al Long-term outcome of patients with biopsy-proved myocarditis: comparison with idiopathic dilated cardiomyopathy J Am Coll Cardiol 1995; 26: 80–84 132 Taylor MR, Fain PR, Sinagra G et al Natural history of dilated cardiomyopathy due to lamin A/C gene mutations J Am Coll Cardiol 2003; 41: 771–780 133 Davies JNP Endomyocardial necrosis A heart disease of obscure aetiology in Africa MD thesis, Bristol, 1948 134 Shaper AG, Hutt MSR, Coles RM Necropsy study of endomyocardial fibrosis and rheumatic heart disease in Uganda 1960–1965 Br Heart J 1968; 30: 391–401 135 Somers K, Hutt MSR, Patel AK et al Endomyocardial biopsy in diagnosis of cardiomyopathies Br Heart J 1971; 33: 822–832 136 Chew CYC, Ziady GM, Raphael MJ et al Primary restrictive cardiomyopathy Nontropical endomyocardial fibrosis and hypereosinophilic heart disease Br Heart J 1977; 39: 399–413 137 Hess OM Endomyokardfibrose In: Krayenbuehl HP, Kuebler W (eds) Herzkrankheiten, 1981 Stuttgart: Thieme Verlag, pp 4717–4721 138 Brockington JF, Olsen EGJ Löffler’s endocarditis and Davies’ endomyocardial fibrosis Am Heart J 1973; 85: 308–322 139 Spry ChJF The pathogenesis of endomyocardial fibrosis: the role of the eosinophil Springer Semin Immunopathol 1989; 11: 471–477 www.passfans.com/forum TETC16 12/2/05 18:31 Page 511 Myocardial Disease 140 Venge P The human eosinophil in inflammation Agents Actions 1990; 1/2: 123–126 141 Löffler W Endocarditis parietalis fibroplastica mit Bluteosinophilie Schweiz Med Wochenschr 1936; 66: 817–820 142 Thüring Ch, Hess OM, Murakami T et al Normalwerte der linksventrikulären Funktion Biplane Angiokardiographie, unter Berücksichtigung geschlechtsspezifischer Unterschiede Fortschr Röntgenstr 1989; 150: 562–568 143 Roelandt JRTC, Sutherland GP, Iliceto S et al Cardiac Ultrasound, 1993 Edinburgh: Churchill Livingstone 144 Braunwald E Heart Disease, 7th edn, 2005; p 1689, Chapter Philadelphia: Elsevier-Saunders 145 Liesveld JL, Abboud CN State of the art: the hypereosinophilic syndromes Blood Rev 1991; 5: 29–37 146 Jameson MD, Segraves StD Idiopathic hypereosinophilic syndrome Postgrad; 84: 93–97 147 Weller PF, Glenn BJ The idiopathic hypereosinophilic syndrome Blood 1994; 10: 2759 –2771 148 Dubost Ch, Maurice P, Gerbaux A et al The surgical treatment of constrictive fibrous endocarditis Ann Surg 1976; 184: 303–307 149 Cherian G, Vijayaraghavan G, Krishnaswami S et al Endomyocardial fibrosis: report on the hemodynamic data in 29 patients and review of the results of surgery Am Heart J 1983; 4: 659–665 150 Hess OM, Turina M, Senning A et al Pre- and postoperative findings in patients with endomyocardial fibrosis Br Heart J 1978; 40: 406–415 151 Metras D, Coulibaly AQ, Quattara K et al Endomyocardial fibrosis: early and late results of surgery in 20 patients J Thorac Cardiovasc Surg 1982; 83: 52–64 152 Moraes CR, Buffolo EL, Lima R et al Surgical treatment of endomyocardial fibrosis J Thorac Cardiovasc Surg 1983; 85: 738–745 153 Blakrishnan KG, Venkitachalam CG, Pillai VRK et al Postoperative evaluation of endomyocardial fibrosis Cardiology 1986; 73: 73–84 154 Davies J, Sapsford R, Brooksby I et al Successful surgical treatment of two patients with eosinophilic endomyocardial disease Br Heart J 1981; 46: 438–445 155 Hess OM, Turina M, Egloff L et al Velauf der Endomyokardfibrose nach chirurgischer Endokarddekortikation Schweiz Med Wochenschr 1984; 114: 1595–1598 156 Schneider U, Jenni R, Turina J, Turina M, Hess OM Longterm follow up of patients with endomyocardial fibrosis: effects of surgery Heart 1998; 79: 362–367 157 Tanaka F, Migita K, Honda S et al Clinical outcome and survival of secondary (AA) amyloidosis Clin Exp Rheumatol 2003; 21: 343–346 158 Rahman JE, Helou EF, Gelzer-Bell R et al Noninvasive diagnosis of biopsy-proven cardiac amyloidosis J Am Coll Cardiol 2004; 43: 410–415 159 Skinner M, Sanchorawala V, Seldin DC et al High-dose melphalan and autologous stem-cell transplantation in patients with AL amyloidosis: an 8-year study Ann Intern Med 2004; 140: 85–93 160 Kyle RA, Spittell PC, Gertz MA et al The premortem recognition of systemic senile amyloidosis with cardiac involvement Am J Med 1996; 101: 395–400 161 Rybicki BA, Iannuzzi MC, Frederick MM et al Familial aggregation of sarcoidosis A case-control etiologic study of sarcoidosis (ACCESS) Am J Respir Crit Care Med 2001; 164: 2085 –2091 162 Silverman KJ, Hutchins GM, Bulkley BH Cardiac sarcoid: a clinicopathologic study of 84 unselected patients with systemic sarcoidosis Circulation 1978; 58: 1204 –1211 163 Matsui Y, Iwai K, Tachibana T et al Clinicopathological study of fatal myocardial sarcoidosis Ann NY Acad Sci 1976; 278: 455–469 164 Bargout R, Kelly RF Sarcoid heart disease: clinical course and treatment Int J Cardiol 2004; 97: 173–182 165 Fahy GJ, Marwick T, McCreery CJ, Quigley PJ, Maurer BJ Doppler echocardiographic detection of left ventricular diastolic dysfunction in patients with pulmonary sarcoidosis Chest 1996; 109: 62–66 166 Haywood LJ, Sharma OP, Siegel ME et al Detection of myocardial sarcoidosis by thallium 201 imaging J Natl Med Assoc 1982; 74: 959–964 167 Furushima H, Chinushi M, Sugiura H, Kasai H, Washizuka T, Aizawa Y Ventricular tachyarrhythmia associated with cardiac sarcoidosis: its mechanisms and outcome Clin Cardiol 2004; 27: 217–222 168 Ott P, Marcus FI, Sobonya RE, Morady F, Knight BP, Fuenzalida CE Cardiac sarcoidosis masquerading as right ventricular dysplasia Pacing Clin Electrophysiol 2003; 26: 1498 –1503 169 Umetani K, Ishihara T, Yamamoto K et al Successfully treated complete atrioventricular block with corticosteroid in a patient with cardiac sarcoidosis: usefulness of gallium-67 and thallium-201 scintigraphy Intern Med 2000; 39: 245–248 170 Takada K, Ina Y, Yamamoto M, Satoh T, Morishita M Prognosis after pacemaker implantation in cardiac sarcoidosis in Japan Clinical evaluation of corticosteroid therapy Sarcoidosis 1994; 11: 113–117 171 Pietrangelo A Hereditary hemochromatosis: a new look at an old disease N Engl J Med 2004; 350: 2383–2397 172 Olson LJ, Edwards WD, McCall JT, Ilstrup DM, Gersh BJ Cardiac iron deposition in idiopathic hemochromatosis: histologic and analytic assessment of 14 hearts from autopsy J Am Coll Cardiol 1987; 10: 1239–1243 173 Eaton JW, Qian M Molecular bases of cellular iron toxicity Free Radic Biol Med 2002; 32: 833–840 174 Short EM, Winkle RA, Billingham ME Myocardial involvement in idiopathic hemochromatosis Morphologic and clinical improvement following venesection Am J Med 1981; 70: 1275 –1279 175 Yalcinkaya S, Kumbasar SD, Semiz E, Tosun Z, Paksoy N Sustained ventricular tachycardia in cardiac hemochromatosis treated with amiodarone J Electrocardiol 1997; 30: 147–149 176 Anderson LJ, Holden S, Davis B et al Cardiovascular T2-star (T2*) magnetic resonance for the early diagnosis www.passfans.com/forum 511 TETC16 12/2/05 18:31 Page 512 512 Chapter 16 177 178 179 180 181 182 183 184 185 186 187 188 189 190 191 192 of myocardial iron overload Eur Heart J 2001; 22: 2171–2179 Westra WH, Hruban RH, Baughman KL et al Progressive hemochromatotic cardiomyopathy despite reversal of iron deposition after liver transplantation Am J Clin Pathol 1993; 99: 39–44 Gilbert-Barness E Metabolic cardiomyopathy and conduction system defects in children Ann Clin Lab Sci 2004; 34: 15–34 Kishnani PS, Howell RR Pompe disease in infants and children J Pediatr 2004; 144 (5 suppl.): S35–S43 Guertl B, Noehammer C, Hoefler G Metabolic cardiomyopathies Int J Exp Pathol 2000; 81: 349–372 Van den Hout H, Reuser AJ, Vulto AG, Loonen MC, Cromme-Dijkhuis A, Van der Ploeg AT Recombinant human alpha-glucosidase from rabbit milk in Pompe patients Lancet 2000; 356: 397–398 Amalfitano A, Bengur AR, Morse RP et al Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial Genet Med 2001; 3: 132–138 Bosone I, Vercelli L, Mongini T et al Glycogen storage disease type II diagnosed in a 74-year-old woman J Am Geriatr Soc 2004; 52: 1034 –1035 Wolfsdorf JI, Weinstein DA Glycogen storage diseases Rev Endocr Metab Disord 2003; 4: 95–102 Cuspidi C, Sampieri L, Pelizzoli S et al Obstructive hypertrophic cardiomyopathy in type III glycogen-storage disease Acta Cardiol 1997; 52: 117–123 Moses SW, Parvari R The variable presentations of glycogen storage disease type IV: a review of clinical, enzymatic and molecular studies Curr Mol Med 2002; 2: 177–188 McConkie-Rosell A, Wilson C, Piccoli DA et al Clinical and laboratory findings in four patients with the nonprogressive hepatic form of type IV glycogen storage disease J Inherit Metab Dis 1996; 19: 51–58 Nase S, Kunze KP, Sigmund M, Schroeder JM, Shin Y, Hanrath P A new variant of type IV glycogenosis with primary cardiac manifestation and complete branching enzyme deficiency In vivo detection by heart muscle biopsy Eur Heart J 1995; 16: 1698 –1704 Desnick RJ, Brady R, Barranger J et al Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy Ann Intern Med 2003; 138: 338–346 MacDermot KD, Holmes A, Miners AH Anderson–Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females J Med Genet 2001; 38: 769–775 Linhart A, Palecek T, Bultas J et al New insights in cardiac structural changes in patients with Fabry’s disease Am Heart J 2000; 139: 1101–1108 Chimenti C, Pieroni M, Morgante E et al Prevalence of Fabry disease in female patients with late-onset hypertrophic cardiomyopathy Circulation 2004; 110: 1047–1053 193 Adams MJ, Hardenbergh PH, Constine LS, Lipshultz SE Radiation-associated cardiovascular disease Crit Rev Oncol Hematol 2003; 45: 55–75 194 King V, Constine LS, Clark D et al Symptomatic coronary artery disease after mantle irradiation for Hodgkin’s disease Int J Radiat Oncol Biol Phys 1996; 36: 881–889 195 Byrd BF III, Mendes LA Cardiac complications of mediastinal radiotherapy The other side of the coin J Am Coll Cardiol 2003; 42: 750–751 196 Thiene G, Nava A, Corrado D, Rossi L, Pennelli N Right ventricular cardiomyopathy and sudden death in young people N Engl J Med 1988; 318: 129–133 197 Nava A, Bauce B, Basso C et al Clinical profile and longterm follow-up of 37 families with arrhythmogenic right ventricular cardiomyopathy J Am Coll Cardiol 2000; 36: 2226 –2233 198 Corrado D, Fontaine G, Marcus FI et al Arrhythmogenic right ventricular dysplasia/cardiomyopathy: need for an international registry Circulation 2000; 101: E101–E106 199 Fontaine G, Fontaliran F, Frank R et al [Arrhythmogenic right ventricular dysplasia A new clinical entity] Bull Acad Natl Med 1993; 177: 501–512; discussion 512–514 200 Fontaine G, Fontaliran F, Hebert JL et al Arrhythmogenic right ventricular dysplasia Annu Rev Med 1999; 50: 17–35 201 Fontaine G, Chemla D, Fornes P Arrhythmic right ventricular cardiomyopathy Am J Cardiol 2000; 86: 483–484 202 Basso C, Thiene G, Corrado D, Angelini A, Nava A, Valente M Arrhythmogenic right ventricular cardiomyopathy Dysplasia, dystrophy, or myocarditis? Circulation 1996; 94: 983–991 203 Basso C, Calabrese F, Corrado D, Thiene G Postmortem diagnosis in sudden cardiac death victims: macroscopic, microscopic and molecular findings Cardiovasc Res 2001; 50: 290–300 204 Corrado D, Basso C, Thiene G et al Spectrum of clinicopathologic manifestations of arrhythmogenic right ventricular cardiomyopathy/dysplasia: a multicenter study J Am Coll Cardiol 1997; 30: 1512–1520 205 Mallat Z, Tedgui A, Fontaliran F, Frank R, Durigon M, Fontaine G Evidence of apoptosis in arrhythmogenic right ventricular dysplasia N Engl J Med 1996; 335: 1190 –1196 206 Thiene G, Corrado D, Nava A et al Right ventricular cardiomyopathy: is there evidence of an inflammatory aetiology? Eur Heart J 1991; 12 (suppl D): 22–25 207 Bowles NE, Ni J, Marcus F, Towbin JA The detection of cardiotropic viruses in the myocardium of patients with arrhythmogenic right ventricular dysplasia/ cardiomyopathy J Am Coll Cardiol 2002; 39: 892–895 208 Rampazzo A, Nava A, Danieli GA et al The gene for arrhythmogenic right ventricular cardiomyopathy maps to chromosome 14q23–q24 Hum Mol Genet 1994; 3: 959–962 209 Paoloni P, Cardinali L, Mennecozzi M, Capone P [Arrhythmogenic right ventricular dysplasia Report of a familial case] Minerva Cardioangiol 1995; 43: 231–235 www.passfans.com/forum TETC16 12/2/05 18:31 Page 513 Myocardial Disease 210 Sabel KG, Blomstrom-Lundqvist C, Olsson SB, Enestrom S Arrhythmogenic right ventricular dysplasia in brother and sister: is it related to myocarditis? Pediatr Cardiol 1990; 11: 113–116 211 Corrado D, Thiene G Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: is there a single gold standard test? J Cardiovasc Electrophysiol 2004; 15: 307–309 212 Paul M, Schulz-Bahr E, Breithard G, Wichter T Genetics of arrhythmogenic right ventricular cardiomyopathy: status quo and future perspectives Z Kardiol 2003; 92: 128–136 213 Coonar AS, Protonotarios N, Tsatsopoulou A et al Gene for arrhythmogenic right ventricular cardiomyopathy with diffuse nonepidermolytic palmoplantar keratoderma and woolly hair (Naxos disease) maps to 17q21 Circulation 1998; 97: 2049 –2058 214 Norgett EE, Hatsell SJ, Carvajal-Huerta L et al Recessive mutation in desmoplakin disrupts desmoplakin–intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma Hum Mol Genet 2000; 9: 2761–2766 215 Pinamonti B, Miani D, Sinagra G, Bussani R, Silvestri F, Camerini F Familial right ventricular dysplasia with biventricular involvement and inflammatory infiltration Heart 1996; 76: 66–69 216 Valente M, Calabrese F, Thiene G et al In vivo evidence of apoptosis in arrhythmogenic right ventricular cardiomyopathy Am J Pathol 1998; 152: 479–484 217 McKenna WJ, Thiene G, Nava A et al Diagnosis of arrhythmogenic right ventricular dysplasia/ cardiomyopathy Br Heart J 1994; 71: 215–218 218 Corrado D, Fontaine G, Marcus FI et al Arrhythmogenic right ventricular dysplasia/cardiomyopathy: need for an international registry J Cardiovasc Electrophysiol 2000; 11: 827–832 219 Rampazzo A, Nava A, Erne P et al A new locus for arrhythmogenic right ventricular cardiomyopathy (ARVD2) maps to chromosome 1q42–q43 Hum Mol Genet 1995; 4: 2151–2154 220 Severini GM, Krajinovic M, Pinamonti B et al A new locus for arrhythmogenic right ventricular dysplasia on the long arm of chromosome 14 Genomics 1996; 31: 193–200 221 Rampazzo A, Nava A, Miorin M et al ARVD4, a new locus for arrhythmogenic right ventricular cardiomyopathy, maps to chromosome long arm Genomics 1997; 45: 259–263 222 Ahmad F, Li D, Karibe A et al Localization of a gene responsible for arrhythmogenic right ventricular dysplasia to chromosome 3p23 Circulation 1998; 98: 2791–2795 223 Melberg A, Oldfors A, Blomstrom-Lundqvist C et al Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q Ann Neurol 1999; 46: 684–692 224 Li D, Ahmad F, Gardner MJ et al The locus of a novel gene responsible for arrhythmogenic right-ventricular dysplasia characterized by early onset and high penetrance maps to chromosome 10p12–p14 Am J Hum Genet 2000; 66: 148–156 225 Rampazzo A, Nava A, Malacrida S et al Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy Am J Hum Genet 2002; 71: 1200 –1206 226 Frances R, Rodriguez Benitez AM, Cohen DR Arrhythmogenic right ventricular dysplasia and anterior polar cataract Am J Med Genet 1997; 73: 125–126 227 Jenni R, Oechslin E, Schneider J, Jost CA, Kaufmann PA Echocardiographic and pathoanatomical characteristics of isolated left ventricular non-compaction: a step towards classification as a distinct cardiomyopathy Heart 2001; 86: 666–671 228 Chin TK, Perloff JK, Williams RG, Jue K, Mohrmann R Isolated noncompaction of left ventricular myocardium A study of eight cases Circulation 1990; 82: 507–513 229 Boyd MT, Seward JB, Tajik AJ, Edwards WD Frequency and location of prominent left ventricular trabeculations at autopsy in 474 normal human hearts: implications for evaluation of mural thrombi by two-dimensional echocardiography J Am Coll Cardiol 1987; 9: 323–326 230 Chung T, Yiannikas J, Lee LC, Lau GT, Kritharides L Isolated noncompaction involving the left ventricular apex in adults Am J Cardiol 2004; 94: 1214–1216 231 Weiford BC, Subbarao VD, Mulhern KM Noncompaction of the ventricular myocardium Circulation 2004; 109: 2965 –2971 232 Lauer RM, Fink HP, Petry EL, Dunn MI, Diehl AM Angiographic demonstration of intramyocardial sinusoids in pulmonary-valve atresia with intact ventricular septum and hypoplastic right ventricle N Engl J Med 1964; 271: 68–72 233 Ichida F, Tsubata S, Bowles KR et al Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome Circulation 2001; 103: 1256 –1263 234 Bione S, D’Adamo P, Maestrini E, Gedeon AK, Bolhuis PA, Toniolo D A novel X-linked gene, G4.5 is responsible for Barth syndrome Nat Genet 1996; 12: 385–389 235 Oechslin EN, Attenhofer Jost CH, Rojas JR, Kaufmann PA, Jenni R Long-term follow-up of 34 adults with isolated left ventricular noncompaction: a distinct cardiomyopathy with poor prognosis J Am Coll Cardiol 2000; 36: 493–500 236 Junga G, Kneifel S, Von Smekal A, Steinert H, Bauersfeld U Myocardial ischaemia in children with isolated ventricular non-compaction Eur Heart J 1999; 20: 910–916 237 Pignatelli RH, McMahon CJ, Dreyer WJ et al Clinical characterization of left ventricular noncompaction in children: a relatively common form of cardiomyopathy Circulation 2003; 108: 2672 –2678 238 Ichida F, Hamamichi Y, Miyawaki T et al Clinical features of isolated noncompaction of the ventricular myocardium: long-term clinical course, hemodynamic properties, and genetic background J Am Coll Cardiol 1999; 34: 233–240 239 Sasse-Klaassen S, Gerull B, Oechslin E, Jenni R, Thierfelder L Isolated noncompaction of the left ventricular www.passfans.com/forum 513 TETC16 12/2/05 18:31 Page 514 514 Chapter 16 240 241 242 243 244 245 246 247 248 249 250 251 252 253 myocardium in the adult is an autosomal dominant disorder in the majority of patients Am J Med Genet 2003; 119A: 162–167 Carlquist JF, Menlove RL, Murray MB, O’Connell JB, Anderson JL HLA class II (DR and DQ) antigen associations in idiopathic dilated cardiomyopathy Validation study and meta-analysis of published HLA association studies Circulation 1991; 83: 515–522 Kühl U, Pauschinger M, Bock T et al Parvovirus B19 infection mimicking acute myocardial infarction Circulation 2003; 108: 945–950 Noutsias M, Fechner H, de Jonge H et al Human coxsackie–adenovirus receptor is colocalized with integrins alpha(v)beta(3) and alpha(v)beta(5) on the cardiomyocyte sarcolemma and upregulated in dilated cardiomyopathy: implications for cardiotropic viral infections Circulation 2001; 104: 275–280 Badorff C, Lee GH, Lamphear BJ et al Enteroviral protease 2A cleaves dystrophin: evidence of cytoskeletal disruption in an acquired cardiomyopathy Nat Med 1999; 5: 320–326 Jahns R, Boivin V, Hein L et al Direct evidence for a beta 1-adrenergic receptor-directed autoimmune attack as a cause of idiopathic dilated cardiomyopathy J Clin Invest 2004; 113: 1419 –1429 Staudt A, Staudt Y, Dorr M et al Potential role of humoral immunity in cardiac dysfunction of patients suffering from dilated cardiomyopathy J Am Coll Cardiol 2004; 44: 829–836 Li J, Schwimmbeck PL, Tschope C et al Collagen degradation in a murine myocarditis model: relevance of matrix metalloproteinase in association with inflammatory induction Cardiovasc Res 2002; 56: 235–247 Noutsias M, Pauschinger M, Schultheiss HP, Kühl U Cytotoxic perforin+ and TIA-1+ infiltrates are associated with cell adhesion molecule expression in dilated cardiomyopathy Eur J Heart Fail 2003; 5: 469–479 Tschope C, Bock CT, Kasner M et al High prevalence of cardiac parvovirus B19 infection in patients with isolated left ventricular diastolic dysfunction Circulation 2005; 111: 879–886 Noutsias M, Pauschinger M, Poller WC, Schultheiss HP, Kühl U Immunomodulatory treatment strategies in inflammatory cardiomyopathy: current status and future perspectives Expert Rev Cardiovasc Ther 2004; 2: 37–51 Aretz HT Myocarditis: the Dallas criteria Hum Pathol 1987; 18: 619–624 Pauschinger M, Doerner A, Kuehl U et al Enteroviral RNA replication in the myocardium of patients with left ventricular dysfunction and clinically suspected myocarditis Circulation 1999; 99: 889–895 Kühl U, Schultheiss HP Treatment of chronic myocarditis with corticosteroids Eur Heart J 1995; 16 (suppl O): 168–172 Staudt A, Schaper F, Stangl V et al Immunohistological changes in dilated cardiomyopathy induced by immunoadsorption therapy and subsequent 254 255 256 257 258 259 260 261 262 263 264 265 266 267 268 269 270 immunoglobulin substitution Circulation 2001; 103: 2681–2686 Lip GY, Felmeden DC, Li-Saw-Hee FL, Beevers DG Hypertensive heart disease A complex syndrome or a hypertensive ‘cardiomyopathy’? Eur Heart J 2000; 21: 1653 –1665 Pardo Mindan FJ, Panizo A Alterations in the extracellular matrix of the myocardium in essential hypertension Eur Heart J 1993; 14 (suppl J): 12–14 Diez J, Lopez B, Gonzalez A, Querejeta R Clinical aspects of hypertensive myocardial fibrosis Curr Opin Cardiol 2001; 16: 328–335 Schwartzkopff B, Motz W, Frenzel H, Vogt M, Knauer S, Strauer BE Structural and functional alterations of the intramyocardial coronary arterioles in patients with arterial hypertension Circulation 1993; 88: 993–1003 Vardas PE, Simandirakis EN, Parthenakis FI, Manios EG, Eleftherakis NG, Terzakis DE Study of late potentials and ventricular arrhythmias in hypertensive patients with normal electrocardiograms Pacing Clin Electrophysiol 1994; 17: 577–584 Schillaci G, Verdecchia P, Borgioni C et al Association between persistent pressure overload and ventricular arrhythmias in essential hypertension Hypertension 1996; 28: 284–289 Saadeh AM, Jones JV Predictors of sudden cardiac death in never previously treated patients with essential hypertension: long-term follow-up J Hum Hypertens 2001; 15: 677–680 Wolk R Arrhythmogenic mechanisms in left ventricular hypertrophy Europace 2000; 2: 216–223 Carlberg B, Samuelsson O, Lindholm LH Atenolol in hypertension: is it a wise choice? Lancet 2004; 364: 1684 –1689 Piano MR Alcoholic cardiomyopathy: incidence, clinical characteristics, and pathophysiology Chest 2002; 121: 1638 –1650 Kajander OA, Kupari M, Laippala P et al Dose dependent but non-linear effects of alcohol on the left and right ventricle Heart 2001; 86: 417–423 Urbano-Marquez A, Estruch R, Fernandez-Sola J, Nicolas JM, Pare JC, Rubin E The greater risk of alcoholic cardiomyopathy and myopathy in women compared with men JAMA 1995; 274: 149–154 Fauchier L Alcoholic cardiomyopathy and ventricular arrhythmias Chest 2003; 123: 1320 Gavazzi A, De Maria R, Parolini M, Porcu M Alcohol abuse and dilated cardiomyopathy in men Am J Cardiol 2000; 85: 1114 –1118 Nicolas JM, Fernandez-Sola J, Estruch R et al The effect of controlled drinking in alcoholic cardiomyopathy Ann Intern Med 2002; 136: 192–200 Bell DS Heart failure: the frequent, forgotten, and often fatal complication of diabetes Diabetes Care 2003; 26: 2433 –2441 Avogaro A, Vigili de Kreutzenberg S, Negut C, Tiengo A, Scognamiglio R Diabetic cardiomyopathy: a metabolic perspective Am J Cardiol 2004; 93 (8A): 13A–16A www.passfans.com/forum TETC16 12/2/05 18:31 Page 515 Myocardial Disease 271 Zhu X, Wheeler MT, Hadhazy M, Lam MY, McNally EM Cardiomyopathy is independent of skeletal muscle disease in muscular dystrophy FASEB J 2002; 16: 1096–1098 272 Towbin JA, Hejtmancik JF, Brink P et al X-linked dilated cardiomyopathy Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus Circulation 1993; 87: 1854 –1865 273 Muntoni F Cardiomyopathy in muscular dystrophies Curr Opin Neurol 2003; 16: 577–583 274 Hoogerwaard EM, Bakker E, Ippel PF et al Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in The Netherlands: a cohort study Lancet 1999; 353: 2116 –2119 275 Buckley AE, Dean J, Mahy IR Cardiac involvement in Emery Dreifuss muscular dystrophy: a case series Heart 1999; 82: 105–108 276 de Beus E, van Mook WN, Ramsay G, Stappers JL, van der Putten HW Peripartum cardiomyopathy: a condition intensivists should be aware of Intensive Care Med 2003; 29: 167–174 277 James PR A review of peripartum cardiomyopathy Int J Clin Pract 2004; 58: 363–365 278 Elkayam U Pregnant again after peripartum cardiomyopathy: to be or not to be? Eur Heart J 2002; 23: 753–756 279 Felker GM, Jaeger CJ, Klodas E et al Myocarditis and longterm survival in peripartum cardiomyopathy Am Heart J 2000; 140: 785–791 280 Cenac A, Simonoff M, Moretto P, Djibo A A low plasma selenium is a risk factor for peripartum cardiomyopathy A comparative study in Sahelian Africa Int J Cardiol 1992; 36: 57–59 281 Sundstrom JB, Fett JD, Carraway RD, Ansari AA Is peripartum cardiomyopathy an organ-specific autoimmune disease? Autoimmun Rev 2002; 1: 73–77 282 Pearl W Familial occurrence of peripartum cardiomyopathy Am Heart J 1995; 129: 421–422 283 Easterling TR, Carr DB, Davis C, Diederichs C, Brateng DA, Schmucker B Low-dose, short-acting, angiotensinconverting enzyme inhibitors as rescue therapy in pregnancy Obstet Gynecol 2000; 96: 956–961 284 Veille JC, Zaccaro D Peripartum cardiomyopathy: summary of an international survey on peripartum cardiomyopathy Am J Obstet Gynecol 1999; 181: 315–319 285 Futterman LG, Lemberg L Peripartum cardiomyopathy: an ominous complication of pregnancy Am J Crit Care 2000; 9: 362–366 286 Elkayam U, Tummala PP, Rao K et al Maternal and fetal outcomes of subsequent pregnancies in women with peripartum cardiomyopathy N Engl J Med 2001; 344: 1567–1571 www.passfans.com/forum 515 TETC16 12/2/05 18:31 Page 516 www.passfans.com/forum ... www.passfans.com/forum TETC 01 12/2/05 18 :09 Page 11 The Morphology of the Electrocardiogram A I II III VL VF V1 V6 B I II III VL VF V1 V6 Figure 1. 14 (A) An example of left posterior hemiblock (B) The ECG of same... www.passfans.com/forum TETC 01 12/2/05 18 :09 Page The Morphology of the Electrocardiogram A B C D + – I 12 0º – – –60º – + I +VR +VL 15 0º –30º – – – 18 0º + II III 0º +I III II V1 V3R +15 0º + +30º + +12 0º +III... box detailing the scope of the chapter and ends with a ‘Personal perspectives’ box in which the author outlines state-ofthe-art and future directions for the area The ESC Textbook of Cardiovascular