(BQ) Part 1 book ASE''s Comprehensive echocardiography textbook presents the following contents: Physics and instrumentation, transthoracic echocardiography, intracardiac echocardiography, intravascular ultrasound, hand held echocardiography, transesophageal echocardiography, contrast echocardiography,...
Expert CONSULT Don’t Forget Your Online Access to Elsevier | ExpertConsult.com Enhanced eBooks for medical professionals Compatible with PC, Mac®, most mobile devices, and eReaders, Expert Consult allows you to browse, search, and interact with this title – online and offline Redeem your PIN at expertconsult.com today! PIN REDEMPTION INSTRUCTIONS Start using these innovative features today: • Seamless, real-time integration between devices • Straightforward navigation and search • Notes and highlights sharing with other users through social media • Enhanced images with annotations, labels, and hot spots for zooming on specific details * • Live streaming video and animations * • Self-assessment tools such as questions embedded within the text and multiple-format quizzes * * some features vary by title Login or Sign Up at ExpertConsult.com Scratch off your PIN code below Enter PIN into the “Redeem a Book Code” box Click “Redeem” Go to “My Library” Use of the current edition of the electronic version of this book (eBook) is subject to the terms of the nontransferable, limited license granted on ExpertConsult.com Access to the eBook is limited to the first individual who redeems the PIN, located on the inside cover of this book, at ExpertConsult.com and may not be transferred to another party by resale, lending, or other means For technical assistance: Email: online.help@elsevier.com; Call: within the US and Canada: 800-401-9962; outside the US and Canada: +1-314-447-8200 ASE’s Comprehensive Echocardiography This page intentionally left blank ASE’s Comprehensive Echocardiography ROBERTO M LANG, MD, FASE, FACC, FAHA, FESC, FRCP Professor of Medicine Director, Noninvasive Cardiac Imaging Laboratories University of Chicago Medical Center Chicago, Illinois STEVEN A GOLDSTEIN, MD, FACC Director, Noninvasive Cardiology Lab Washington Hospital Center Washington, District of Columbia ITZHAK KRONZON, MD, FASE, FACC, FAHA, FESC, FACP Professor of Medicine Department of Cardiology Hofstra University School of Medicine, and LIJ/North Shore Lenox Hill Hospital, New York, New York BIJOY K KHANDHERIA, MD, FASE, FACC, FESC, FACP Director, Echocardiography Services Aurora Health Care Aurora Medical Group Aurora St Luke Medical Center Director, Echocardiography Center for Research and Innovation Aurora Research Institute Co-Director, Aurora Center for Cardio-Oncology Clinical Adjunct Professor of Medicine University of Wisconsin School of Medicine Milwaukee, Wisconsin VICTOR MOR-AVI, PhD, FASE Professor, Director of Cardiac Imaging Research University of Chicago Medical Center Chicago, Illinois 1600 John F Kennedy Blvd Ste 1800 Philadelphia, PA 19103-2899 ASE’S COMPREHENSIVE ECHOCARDIOGRAPHY, SECOND EDITION ISBN: 978-0-323-26011-4 Copyright © 2016, 2011 by Saunders, an imprint of Elsevier Inc No part of this publication may be reproduced or transmitted in any form or by any means, electronic or mechanical, including photocopying, recording, or any information storage and retrieval system, without permission in writing from the publisher Details on how to seek permission, further information about the Publisher’s permissions policies and our arrangements with organizations such as the Copyright Clearance Center and the Copyright Licensing Agency, can be found at our website: www.elsevier.com/permissions This book and the individual contributions contained in it are protected under copyright by the Publisher (other than as may be noted herein) Notices Knowledge and best practice in this field are constantly changing As new research and experience broaden our understanding, changes in research methods, professional practices, or medical treatment may become necessary Practitioners and researchers must always rely on their own experience and knowledge in evaluating and using any information, methods, compounds, or experiments described herein In using such information or methods they should be mindful of their own safety and the safety of others, including parties for whom they have a professional responsibility With respect to any drug or pharmaceutical products identified, readers are advised to check the most current information provided (i) on procedures featured or (ii) by the manufacturer of each product to be administered, to verify the recommended dose or formula, the method and duration of administration, and contraindications It is the responsibility of practitioners, relying on their own experience and knowledge of their patients, to make diagnoses, to determine dosages and the best treatment for each individual patient, and to take all appropriate safety precautions To the fullest extent of the law, neither the Publisher nor the authors, contributors, or editors, assume any liability for any injury and/or damage to persons or property as a matter of products liability, negligence or otherwise, or from any use or operation of any methods, products, instructions, or ideas contained in the material herein Library of Congress Cataloging-in-Publication Data Dynamic echocardiography ASE’s comprehensive echocardiography / [edited by] Roberto M Lang, Steven A Goldstein, Itzhak Kronzon, Bijoy K Khandheria, Victor Mor-Avi – Second edition p ; cm American Society of Echocardiography comprehensive echocardiography Comprehensive echocardiography Preceded by Dynamic echocardiography / American Society of Echocardiography; [edited by] Roberto M Lang [et al.] c2011 Includes bibliographical references and index ISBN 978-0-323-26011-4 (hardcover : alk paper) I Lang, Roberto M., editor II Goldstein, Steven A., M.D., editor III Kronzon, Itzhak, editor IV Khandheria, Bijoy, editor V Mor-Avi, Victor, editor VI American Society of Echocardiography, issuing body VII Title VIII Title: American Society of Echocardiography comprehensive echocardiography IX Title: Comprehensive echocardiography [DNLM: Echocardiography–methods Cardiovascular Diseases–ultrasonography WG 141.5.E2] RC683.5.U5 616.1’207543–dc23 2014043847 Senior Content Strategist: Dolores Meloni Content Development Manager: Margaret Nelson Publishing Services Manager: Patricia Tannian Project Manager: Kate Mannix Design Direction: Brian Salisbury Printed in China Last digit is the print number: Contributors Amr E Abbas, MD, FACC, FSCAI, FASE Yoram Agmon, MD Luigi P Badano, MD, PhD, FESC, FACC Beaumont Health Royal Oak, Michigan Director, Echocardiography Laboratory and Heart Valves Clinic Department of Cardiology Rambam Health Care Campus; Associate Clinical Professor Bruce Rappaport Faculty of Medicine Technion–Israel Institute of Technology Haifa, Israel Professor Department of Cardiac, Thoracic, and Vascular Sciences University of Padua Padua, Italy Sahar S Abdelmoneim, MD, MSc, MS, FESC Assistant Professor of Medicine Research Associate of Cardiovascular Diseases Mayo Clinic Rochester, Minnesota Theodore Abraham, MD Associate Professor Department of Cardiology The Johns Hopkins University School of Medicine Baltimore, Maryland Harry Acquatella, MD, FASE Director Echocardiography Laboratory Department of Medicine Centro Medico Caracas, Venezuela David B Adams, RCS, RDCS, FASE Cardiac Sonographer Cardiac Diagnostic Clinic Duke University Medical Center Durham, North Carolina Mohamed Ahmed, MD Department of Medicine Division of Cardiovascular Medicine University of Massachusetts Medical School UmassMemorial Healthcare Worcester, Massachusetts Carlos Alviar, MD Cardiology Fellow Leon H Charney Division of Cardiology New York University Langone Medical Center New York, New York Bonita Anderson, DMU (Cardiac), M Appl Sc (Med Ultrasound) Senior Lecturer Medical Radiation Sciences Queensland University of Technology Brisbane, Queensland, Australia Edgar Argulian, MD, MPH Mount Sinai St Luke’s Hospital Mount Sinai Health System New York, New York Federico M Asch, MD, FACC, FASE Karima Addentia, MD Section of Cardiology Department of Medicine University of Chicago Chicago, Illinois Jonathan Afilalo, MD, MSc Divisions of Cardiology and Clinical Epidemiology Jewish General Hospital McGill University Montreal, Quebec, Canada Associate Director Cardiovascular Core Laboratories MedStar Health Research Institute at Washington Hospital Center; Assistant Professor of Medicine Georgetown University Washington, DC Gerard P Aurigemma, MD, FASE Division of Cardiovascular Medicine Department of Medicine University of Massachusetts Medical School UmassMemorial Healthcare Worcester, Massachusetts Vikram Agarwal, MD, MPH Kelly Axsom, MD Department of Medicine Division of Cardiology Mount Sinai St Luke’s and Roosevelt Hospitals Mount Sinai Health Network New York, New York Fellow Cardiovascular Diseases Leon H Charney Division of Cardiology New York University Langone Medical Center New York, New York Revathi Balakrishnan, MD Cardiology Fellow Leon H Charney Division of Cardiology New York University Langone Medical Center New York, New York Sourin Banerji, MD Heart Failure and Transplant Fellow University of Pennsylvania Perelman School of Medicine Philadelphia, Pennsylvania Sripal Bangalore, MD, MHA Associate Professor of Medicine Division of Cardiology Director of Research Cardiac Catheterization Laboratory Director Cardiovascular Outcomes Group New York University School of Medicine New York, New York Manish Bansal, MD Assistant Professor of Pediatrics Department of Pediatric Cardiology Texas Children’s Hospital/Baylor College of Medicine Houston, Texas Thomas Bartel, MD Heart and Vascular Institute Cleveland Clinic Abu Dhabi, United Arab Emirates Rebecca Lynn Baumann, MD Fellow Department of Cardiology UMass Memorial Medical Center Worcester, Massachusetts Helmut Baumgartner, MD Director Division of Adult Congenital and Valvular Heart Disease Department of Cardiovascular Medicine University Hospital Muenster; Professor of Cardiology/Adult Congenital Heart Disease Medical Faculty University of Muenster Muenster, Germany v vi Contributors Roy Beigel, MD Darryl J Burstow, MBBS, FRACP Blai Coll, MD The Heart Institute Cedars Sinai Medical Center Los Angeles, California; The Leviev Heart Center Sheba Medical Center at Tel Hashomer Sackler School of Medicine Tel Aviv University Tel Aviv, Israel Associate Professor Department of Medicine University of Queensland; Senior Staff Cardiologist Department of Cardiology The Prince Charles Hospital Brisbane, Queensland, Australia Department of Internal Medicine Section of Cardiology Rush University Medical Center Chicago, Illinois Benjamin Byrd III, MD J Todd Belcik, RCS, RDCS Senior Research Associate/Research Sonographer Knight Cardiovascular Institute Oregon Health & Science University Portland, Oregon Marek Belohlavek, MD, PhD Professor of Medicine and Bioengineering Director Translational Ultrasound Research Laboratory Department of Internal Medicine Division of Cardiology Mayo Clinic Scottsdale, Arizona Ricardo Benenstein, MD Assistant Professor of Medicine Leon H Charney Division of Cardiology New York University Langone Medical Center New York, New York Professor Department of Medicine Vanderbilt University School of Medicine Nashville, Tennessee Scipione Carerj, MD Cardiology Institution Department of Clinical and Experimental Medicine University of Messina Messina, Italy John D Carroll, MD Director Cardiac and Vascular Center Director Interventional Cardiology Division of Cardiology University of Colorado Denver Aurora, Colorado Scott Chadderdon, MD Oregon Health & Science University Portland, Oregon Eric Berkowitz, MD Hari P Chaliki, MD Department of Cardiovascular Disease Lenox Hill Hospital New York, New York Associate Professor of Medicine Division of Cardiovascular Medicine Mayo Clinic Scottsdale, Arizona Angelo Biviano, MD Center for Interventional Vascular Therapy Columbia University Medical Center New York, New York Cardiology Institution Department of Clinical and Experimental Medicine University of Messina Messina, Italy Abdellaziz Dahou, MD, MSc Professor of Medicine Department of Medicine Quebec Heart and Lung Institute Quebec, Quebec, Canada Jacob P Dal-Bianco, MD Department of Cardiology Massachusetts General Hospital Boston, Massachusetts Daniel A Daneshvar, MD Cardiology Fellow North Shore LIJ/Lenox Hill Hospital New York, New York Melissa A Daubert, MD Assistant Professor of Medicine Duke University Medical Center Durham, North Carolina Ravin Davidoff, MBBCh University of Ottawa Heart Institute Ottawa, Ontario, Canada Jeanne M DeCara, MD Farooq A Chaudhry, MD, FACP, FACC, FASE, FAHA Division of Cardiology Jewish General Hospital Montreal, Quebec, Canada Robert O Bonow, MD, MS Geoff Chidsey, MD Max and Lilly Goldberg Distinguished Professor of Cardiology Director Center for Cardiovascular Innovation Division of Cardiology Northwestern University Feinberg School of Medicine Chicago, Illinois Maurizio Cusma-Picconne, MD, PhD Kwan-Leung Chan, MD, FRCPC, FAHA, FACC Director Echocardiography Laboratory Department of Medicine Division of Cardiology Icahn School of Medicine at Mount Sinai Hospital New York, New York Nimrod Blank, MD Research and Education Sonographer Department of Pediatric Echocardiography Advocate Children’s Hospital Oak Lawn, Illinois Chief Medical Officer Section of Cardiovascular Medicine Boston University School of Medicine Boston Medical Center Boston, Massachusetts Nicole M Bhave, MD Department of Internal Medicine Division of Cardiovascular Medicine University of Michigan Medical Center Ann Arbor, Michigan Vivian W Cui, MD Assistant Professor Department of Cardiology Vanderbilt University Medical Center Nashville, Tennessee Sofia Churzidse, MD University Clinic Essen Essen, Germany Associate Professor of Medicine Section of Cardiology University of Chicago Medicine Chicago, Illinois Antonia Delgado-Montero, MD Department of Cardiology University of Pittsburgh Pittsburgh, Pennsylvania Lisa Dellefave-Castillo, MS, CGC Genetic Counselor Department of Medicine The University of Chicago Chicago, Illinois Ankit A Desai, MD Assistant Professor of Medicine Division of Cardiology Sarver Heart Center University of Arizona Tucson, Arizona Contributors Kavit A DeSouza, MD Arturo A Evangelista, MD Steven A Goldstein, MD, FACC Interventional Cardiology Columbia University Division of Cardiology Mount Sinai Medical Center Miami Beach, Florida Professor Cardiac Imaging Department Hospital Universitari Vall d’Hebron Barcelona, Spain Director Noninvasive Cardiology Lab Washington Hospital Center Washington, DC Steven B Feinstein, MD John Gorcsan III, MD Cardiology Fellow NS/LIJ Lenox Hill Hospital New York, New York Department of Internal Medicine Section of Cardiology Rush University Medical Center Chicago, Illinois Professor of Medicine Department of Cardiology University of Pittsburgh Pittsburgh, Pennsylvania Robert Donnino, MD Beatriz Ferreira, MD, PhD Riccardo Gorla, MD Assistant Professor of Medicine Departments of Radiology and Medicine New York University Langone Medical Center Department of Veterans Affairs New York Harbor Healthcare System New York, New York Department of Cardiology Maputo Heart Institute Maputo, Mozambique Department of Cardiology West German Heart Centre Essen, Germany Elyse Foster, MD Julia Grapsa, MD, PhD Bryan Doherty, MD Pamela S Douglas, MD, MACC, FASE, FAHA Ursula Geller Professor of Research in Cardiovascular Disease Duke University School of Medicine; Director Imaging Program Duke Clinical Research Institute Durham, North Carolina Professor of Medicine Araxe Vilensky Endowed Chair Cardiology University of California San Francisco, California Department of Cardiology Hammersmith Hospital Imperial College of London London, United Kingdom Benjamin H Freed, MD Assistant Professor of Clinical Anesthesia Department of Anesthesiology University of Cincinnati Medical Center Cincinnati, Ohio Assistant Professor of Medicine Northwestern Memorial Hospital Feinberg School of Medicine Chicago, Illinois Julius M Gardin, MD, MBA David M Dudzinski, MD, JD, FAHA Fellow in Echocardiography Cardiac Ultrasound Laboratory and Critical Care Department Massachusetts General Hospital Boston, Massachusetts Raluca Dulgheru, MD GIGA Cardiovascular Sciences Department of Cardiology Heart Valve Clinic University of Lie´ge University Hospital Sart Tilman Lie´ge, Belgium Jean G Dumesnil, MD, FRCPC, FACC, FASE(Hon:) Professor of Medicine Department of Medicine Quebec Heart and Lung Institute Quebec, Quebec, Canada Uri Elkayam, MD Division of Cardiology University of Southern California Los Angeles, California Raimund Erbel, MD, FASE, FAHA, FACC, FESC Professor Department of Cardiology University Clinic Essen Essen, Germany Francine Erenberg, MD Department of Pediatric Cardiology Cleveland Clinic Cleveland, Ohio Professor and Chair Department of Medicine Hackensack University Medical Center Hackensack, New Jersey; Professor Department of Medicine Rutgers New Jersey Medical School Newark, New Jersey Edward A Gill, MD Professor of Medicine Adjunct Professor of Radiology Departments of Medicine and Cardiology University of Washington; Director of Echocardiography Harborview Medical Center Seattle, Washington Linda Gillam, MD, MPH Chair Department of Cardiovascular Medicine Morristown Medical Center Morristown, New Jersey Erin S Grawe, MD Christiane Gruner, MD Department of Cardiology University Heart Center University Hospital Zurich, Switzerland Pooja Gupta, MD, FAAP, FACC, FASE Assistant Professor of Pediatrics Wayne State University School of Medicine; Director Michigan Adult Congenital Heart Center Children’s Hospital of Michigan Detroit, Michigan Swaminatha Gurudevan, MD Senior Clinical Cardiologist Department of Cardiology Healthcare Partners Medical Group Pasadena, California Rebecca T Hahn, MD, FACC, FASE Columbia College of Physicians and Surgeons Columbia University Medical Center New York, New York Steven Giovannone, MD Cardiology Fellow Leon H Charney Division of Cardiology New York University Langone Medical Center New York, New York Yuchi Han, MD, MMSc Assistant Professor Cardiovascular Division Department of Medicine University of Pennsylvania Philadelphia, Pennsylvania Mark Goldberger, MD Division of Cardiology Department of Medicine Columbia University College of Physicians and Surgeons New York, New York vii Jennifer L Hellawell, MD Fellow Cardiovascular Medicine Boston Medical Center Boston, Massachusetts viii Contributors Samuel D Hillier, MBChB, MA, FRACP Department of Echocardiography The Prince Charles Hospital; School of Medicine University of Queensland Brisbane, Queensland, Australia Brian D Hoit, MD, FACC, FASE Professor Department of Medicine, Physiology and Biophysics Case Western Reserve University; Director of Echocardiography Harrington Heart & Vascular Center University Hospital Case Medical Center Cleveland, Ohio Richard Humes, MD, FAAP, FACC, FASE Professor of Pediatrics Wayne State University School of Medicine; Chief, Division of Cardiology Children’s Hospital of Michigan Detroit, Michigan Vikrant Jagadeesan, MD Department of Medicine Section of Cardiology University of Chicago Chicago, Illinois Co-Director, Aurora Center for Cardio-Oncology Clinical Adjunct Professor of Medicine University of Wisconsin School of Medicine Milwaukee, Wisconsin Payal Kohli, MD Gene H Kim, MD Claudia E Korcarz, DVM, RDCS, FASE Assistant Professor of Medicine Advanced Heart Failure and Cardiac Transplantation Institute of Cardiovascular Research Department of Medicine University of Chicago Chicago, Illinois Alexander Janosi, MD Department of Cardiology West-German Heart and Vascular Center University of Duisburg-Essen Essen, Germany Peter A Kahn, BA MS-2 Albert Einstein College of Medicine Yeshiva University New York, New York; Bloomberg School of Public Health Johns Hopkins University Baltimore, Maryland Sanjiv Kaul, MD, FASE, FACC Professor and Division Head Cardiovascular Medicine Oregon Health & Science University Portland, Oregon Bijoy K Khandheria, MD, FASE, FACC, FESC, FACP Director Echocardiography Services Aurora Health Care Aurora Medical Group Aurora/St Luke Medical Center; Director, Echocardiography Center for Research and Innovation Aurora Research Institute; Senior Scientist Department of Medicine Cardiovascular Medicine Division University of Wisconsin School of Medicine and Public Health Madison, Wisconsin Michael S Kim, MD Smadar Kort, MD, FACC, FASE, FAHA Assistant Professor of Medicine Cardiology Director Structural Heart Disease Program Section of Interventional Cardiology University of Colorado Denver Anschutz Medical Campus Aurora, Colorado Professor of Medicine Director of Cardiovascular Imaging Director, Valve Center Stony Brook University Medicine Stony Brook, New York Bruce J Kimura, MD, FACC Medical Director Cardiovascular Ultrasound Laboratory Scripps Mercy Hospital; Associate Clinical Professor Department of Cardiology University of California San Diego, California Sonia Jain, MD, MBBS Fellow Cardiovascular Disease Mayo Clinic Rochester, Minnesota Division of Cardiology Department of Medicine University of California San Francisco, California Mary Etta King, MD Associate Professor of Pediatrics Harvard Medical School; Staff Echocardiographer Cardiac Ultrasound Laboratory Massachusetts General Hospital Boston, Massachusetts Dmitry Kireyev, MD Clinical and Research Fellow in Medicine Cardiac Ultrasound Laboratory Cardiology Division Department of Medicine Massachusetts General Hospital Boston, Massachusetts James N Kirkpatrick, MD Assistant Professor Cardiovascular Medicine Division Department of Medicine Department of Medical Ethics and Health Policy University of Pennsylvania Philadelphia, Pennsylvania Allan L Klein, MD, FRCP(C), FACC, FAHA, FASE Professor of Medicine Cleveland Clinic Lerner College of Medicine Case Western Reserve University; Director of Pericardial Center Cardiovascular Medicine Heart and Vascular Institute Cleveland Clinic Cleveland, Ohio Wojciech Kosmala, MD, PhD Professor Department of Cardiology Wroclaw Medical University Wroclaw, Poland Konstantinos Koulogiannis, MD Associate Director Cardiovascular Core Lab Department of Cardiovascular Medicine Morristown Medical Center Gagnon Cardiovascular Institute Morristown, New Jersey Ilias Koutsogeorgis, MD Department of Cardiology Hammersmith Hospital Imperial College of London London, United Kingdom Frederick W Kremkau, PhD, FACR, FAIUM Professor of Radiologic Sciences Center for Applied Learning Wake Forest University School of Medicine Winston-Salem, North Carolina Eric V Krieger, MD Assistant Professor Departments of Medicine and Cardiology University of Washington; Director of Echocardiography Adjunct Professor of Radiology Departments of Medicine and Cardiology Harborview Medical Center Seattle, Washington Itzhak Kronzon, MD, FASE, FACC, FAHA, FESC, FACP Professor of Medicine Department of Cardiology Hofstra University School of Medicine, and LIJ/North Shore Lenox Hill, Hospital New York, New York 374 SECTION XIV Cardiomyopathies Pericardial Effusion Small to moderate pericardial effusions are often seen in the first year posttransplantation, which is similar to other cardiac surgeries Large and clinically significant effusions are less common and are associated with an undersized heart and/or absence of previous cardiac surgery.16 Generally, the fluid is sterile, but close monitoring and assessment should be performed if infection, transplantation rejection, or hemorrhage is suspected.16 POSTTRANSPLANTATION SURVEILLANCE The posttransplantation course is governed by complications related to immunosuppression, including infection, acute cellular and antibody mediated rejection, cardiac allograft vasculopathy (CAV), and malignancy These complications can generally be classified into early or late occurrences Figure 89.2 Bi-atrial anastomoses in heart transplantation sinoatrial and atrioventricular nodal tissue The bi-atrial anastomosis appears as an echodense ridge at the site along the suture line (Fig 89.2) Residual suture material may sometimes also be seen at the anastomotic site The bi-caval approach, introduced in the 1990s, involves complete removal of the recipient atria, except for a cuff of tissue around the pulmonary vein orifices The donor heart is then anastomosed at the level of the superior and/or inferior venae cavae and pulmonary veins In routine echocardiographic evaluation, hearts transplanted with the bi-caval technique may be difficult to distinguish from nontransplanted hearts The bi-caval technique results in improved atrioventricular geometry, decreased incidence of atrial arrhythmias, and decreased sinus node dysfunction or heart block requiring permanent pacing.12,13 Ventricular Structure and Function Intraoperative transesophageal echocardiography is essential for evaluation of graft ventricular function immediately after cardiopulmonary bypass is weaned LV systolic function should be normal, and asynchronous septal motion is often seen, which is consistent with sternotomy Early LV systolic dysfunction should raise suspicion of graft failure due to reperfusion injury, prolonged cold ischemic time, hyperacute rejection, and/or a suboptimal donor heart Special attention should be paid to right ventricular systolic function because early dysfunction may occur in the presence of residual pulmonary hypertension in the recipient or in donor–recipient mismatch Generally, inotrope and pulmonary artery vasodilator therapy are required early postoperatively Improvement of right ventricular function parallels the resolution of pulmonary hypertension and fluid overload.14 Doppler interrogation may identify diastolic dysfunction, oftentimes with restrictive physiology, immediately posttransplantation due to ischemic myocardial injury from prolonged cold ischemia These diastolic abnormalities may persist late after transplantation.15 Valve Function The echocardiographic appearance of the mitral, tricuspid, aortic, and pulmonary valves are typically normal following transplantation Valvular regurgitation is common, particularly in the tricuspid valve, and is predominantly secondary to increased pulmonary vascular resistance and pulmonary hypertension, which resolves as pulmonary pressures revert to normal Early Surveillance Acute cellular rejection is a mononuclear (usually lymphocytic) inflammatory response against the donor heart It is common from the first week to several years posttransplantation and can be detected in up to 40% of recipients in the first year.12 Currently, surveillance for acute cellular rejection in asymptomatic patients is recommended to be performed by endomyocardial biopsy (EMB) at frequent intervals in the first to 12 months and at further spaced intervals in high-risk patients as deemed warranted by the treating physician Subtle wall motion abnormalities seen on echocardiography or decreases in LV ejection fraction (e.g., from normal to low normal) may signal graft dysfunction However, the use of echocardiography for surveillance as an alternative to EMB is not recommended by the most recent International Society for Heart and Lung Transplant guidelines.17 This recommendation was made based on studies that highlighted the inability of twodimensional, spectral Doppler imaging, and tissue Doppler imaging echocardiography to identify focal cellular or antibody mediated rejection (Table 89.1).18–23 However, strain echocardiography, particularly the use of speckle tracking techniques, is an area of recent research that may prove more reliable for the detection of asymptomatic rejection Because transplantation rejection is generally a focal process, strain echocardiographic imaging may more reliably TABLE 89.1 Efficacy of Echocardiographic Imaging Modality in Identifying Asymptomatic Rejection Author Year Modality Study Comments Stengel SM, et al.20 2001 2D SDI TDI Dandel M, et al.21 2002 2D SDI TDI Sun JP, et al.22 2005 2D SDI TDI 2005 SDI TDI Palka P, et al.23 2D/SDI measurements: no significant change A0 decreased significantly (sensitivity and specificity: 82% and 53%, respectively) LVEF: no significant change IVRT: significant increase with rejection (marked individual variation) PW TDI: no significant change No single variable could reliably identify rejection E0 (medial annulus) velocity decreased and IVRT significantly increased with rejection Sensitivity/specificity (69% and 46% for E0 and 88% and 58% for IVRT) 2D, Two dimensional; IVRT, isovolumic relaxation time; LVEF, left ventricular ejection fraction; PW, pulsed wave; SDI, spectral Doppler imaging; TDI, tissue Doppler imaging Posttransplantation Echocardiographic Evaluation TABLE 89.2 Efficacy of Strain Echocardiography in Identifying Asymptomatic Rejection Author Year Method Study Comments Kato TS, et al.25 2009 TDI (strain) Systolic strain > À 27.4% significantly associated with rejection !1B (sensitivity 82.2% and specificity 82.3%) Roshanali F, 2009 TDI (strain) Lateral and septal strain significantly associated with !3A rejection (P et al.26 value ¼ 0.030 and 0.003, respectively) 2011 Speckle >25% reduction in LV torsion Sato T, (strain) significantly associated with !2R et al.27 rejection (sensitivity 73.7%, specificity 95.1%) LV, Left ventricular; TDI, tissue Doppler imaging identify asymptomatic rejection (Table 89.2).25–27 However, future research is required for validation of this technique Although it is not currently considered a first-line tool for surveillance of acute cellular rejection, echocardiography does serve an adjunct role in monitoring for rejection in a variety of capacities including (1) guidance of EMB, and (2) evaluation of valvular dysfunction, including iatrogenic tricuspid regurgitation that may occur after EMB (Video 89.1) Late Surveillance Although infection and antibody-mediated rejection can present at any time, late complications of cardiac transplantation largely encompass CAV and malignancy CAV is a diffuse arterial disease of the allograft characterized by concentric intimal hyperplasia involving the entire coronary vasculature, which results in a “pruned” appearance on the angiogram CAV is multifactorial in origin and is associated with immune-mediated phenomena, including number and/or duration of rejections and human leukocyte antigen HLA mismatches, in addition to nonimmunologic phenomena including increased donor age, cytomegalovirus infection, hyperlipidemia, and impaired glycemic control Because of cardiac denervation, it may advance silently before it manifests clinically as ischemia, infarction, ventricular dysfunction, heart failure, or ventricular arrhythmia and sudden cardiac death CAV has been noted in as much as 20% of allografts in year and up to 50% at years Therefore, routine screening is paramount.12 Current guidelines recommend annual or biannual coronary angiography with longer intervals if multiple angiograms are normal.19 However, coronary angiography alone may underestimate the extent of CAV because of the diffuse concentric nature of the disease and compensatory vasodilation that may result in a normal angiogram.28 Intravascular ultrasound (IVUS) has demonstrated an association in multiple studies between changes in maximal intimal thickness in year (>0.5 cm) and increased cardiac events and mortality Despite the advantage of IVUS in better defining intimal proliferation, its role remains limited.29 Current guidelines recommend using IVUS, in conjunction with coronary angiography, at to weeks and again at year posttransplantation as an option to detect rapidly progressing CAV or to exclude significant disease when the angiogram is uncertain.19 Although coronary angiography remains the test of choice for identifying CAV, it is an invasive study fraught with complications associated with catheter-based procedures Dobutamine stress echocardiography has proven to be a safe and reliable noninvasive study to assess CAV Dobutamine stress echocardiography has superior results compared with nuclear myocardial perfusion imaging and has a prognostic value comparable to IVUS and angiography.31 375 Please access ExpertConsult to see the corresponding videos for this chapter REFERENCES Yancy CW, Jessup M, Bozkurt B, et al.: 2013 ACCF/AHA guideline for the management of heart failure, Circulation 128:e240–e327, 2013 Stehlik J, Edwards L, Kucheryavaya A, et al.: The Registry of the International Society of Heart and Lung Transplantation: twenty eighth adult heart transplant report – 2011, J Heart Lung Transplant 30(10):10781094, 2011 Costard-Jaăckle A, Fowler MB: Influence of preoperative pulmonary artery pressure on mortality after heart transplantation: testing of potential reversibility of pulmonary hypertension with nitroprusside is useful in defining a high risk group, J Am Coll Cardiol 19(1):48, 1992 Kuppahally S, Michaels A, Tandar A, et al.: Can echocardiographic evaluation of cardiopulmonary hemodynamics decrease right heart catheterizations in endstage heart failure patients awaiting transplantation? Am J Cardiol 106:1657–1662, 2010 Hauptman P, et al.: Evaluation and management of potential heart donors for transplantation, Cardiol Rev 6(2):100–106, 1998 Zaroff J: Echocardiographic evaluation of the potential cardiac donor, J Heart Lung Transplant 23(9 Suppl):S250–S252, 2004 Venkateswaran RV, Bosner RS, Steeds RP, et al.: The echocardiographic assessment of donor heart function prior to cardiac transplantation, Eur J Echocardiogr 260–263, 2005 Zaroff J, Rordorf G, Ogilvy C, et al.: Regional patterns of left ventricular systolic dysfunction after subarachnoid hemorrhage: evidence for neurally mediated cardiac injury, J Am Soc Echocardiogr 13:774–779, 2000 Dujardin KS, McCully RB, Wijdicks EFM, et al.: Myocardial dysfunction associated with brain death: clinical, echocardiographic and pathologic features, J Heart Lung Transplant 20(3):350–357, 2001 10 Boucek MM, Mathis CM, Kanakriyeh MS, et al.: Donor shortage: use of the dysfunctional donor heart, J Heart Lung Transplant 12(6 pt2):S186–S190, 1993 11 Zaroff JG, Babcock WD, Shiboski SC: Temporal changes in left ventricular systolic dysfunction in heart donors: serial echocardiography, J Heart Lung Transplant 22:383–388, 2003 12 Acker MA, Jessup M: Surgical management of heart failure: cardiac transplantation In Bonow RO, Mann DL, Zipes DP, Libby P, editors: Braunwald’s heart disease–a textbook of cardiovascular medicine, ed, Philadelphia, 2012, Saunders, p 584 13 Pham MX, Berry GJ, Hunt SA: Cardiac transplantation: surgical technique In Fuster V, Walsh RA, Harrington RA, editors: Hurst’s the heart, 13 ed, New York, 2011, McGraw-Hill 14 Bhatia SJ, Kirshenbaum JM, Shemin RJ, et al.: Time course of resolution of pulmonary hypertension and right ventricular remodeling after orthotopic cardiac transplantation, Circulation 76:819–826, 1987 15 StGoar FG, Gibbons R, Schnittger, et al.: Left ventricular diastolic function Doppler echocardiographic changes soon after cardiac transplantation, Circulation 82:872–878, 1990 16 Hauptman PJ, Couper GS, Aranki SF, et al.: Pericardial effusions after cardiac transplantation, J Am Coll Cardiol: 1625–1629, 1994 17 Costanzo MR, et al.: The International Society of Heart and Lung Transplant Guidelines for the care of heart transplant recipients, J Heart Lung Transplant 29:914–956, 2010 18 Rosenthal DN, Chin C, Nishimura K, et al.: Identifying cardiac transplant rejection in children: diagnostic utility of echocardiography, right heart catheterization and endomyocardial biopsy data, J Heart Lung Transplant 23:323–329, 2004 19 Mena C, Wencker D, Krumholz HM, et al.: Detection of heart transplant rejection in adults by echocardiographic diastolic indices: a systematic review of the literature, J Am Soc Echocardiogr 19:1295–1300, 2006 20 Stengel SM, Allemann Y, Zimmerli M, et al.: Doppler tissue imaging for assessing left ventricular diastolic dysfunction in heart transplant rejection, Heart 86:432–437, 2001 21 Dandel M, Hummel M, Meyer R, et al.: Left ventricular dysfunction during cardiac allograft rejection: early diagnosis, relationship to the histological severity grade, and therapeutic implications, Transplant Proc 34:2169–2173, 2002 22 Sun JP, Abdalla IA, Asher CA, et al.: Non-invasive evaluation of orthotopic heart transplant rejection by echocardiography, J Heart Lung Transplant 24:160–165, 2005 23 Palka P, Lange A, Galbraith A, et al.: The role of left and right ventricular early diastolic Doppler tissue echocardiographic indices in the evaluation of acute rejection in orthotopic heart transplant, J Am Soc Echocardiogr 18:107–115, 2005 24 Reference deleted in proofs 25 Kato TS, Oda N, Hashimura K, et al.: Strain rate imaging would predict subclinical acute rejection in heart transplant recipients, Eur J Cardiothorac Surg 37:1104–1110, 2010 26 Roshanali F, Mandegar MH, Bagheri Jamshid, et al.: Echo rejection score: new echocardiographic approach to diagnosis of heart transplant rejection, Eur J Cardiothorac Surg 38:176–180, 2010 27 Sato T, Kato TS, Kamamura K: Utility of left ventricular systolic torsion derived from 2-dimensional speckle-tracking echocardiography in monitoring acute cellular rejection in heart transplant recipients, J Heart Lung Transplant 30:536–543, 2011 28 Tuzcu EM, Kapadia SR, Sachar R, Ziada KM: Intravascular ultrasound evidence of angiographically silent progression in coronary atherosclerosis predicts long- 89 376 SECTION XIV Cardiomyopathies term morbidity and mortality after cardiac transplantation, J Am Coll Cardiol 45:1538–1542, 2005 29 Mehra MR, Crespo-Leiro MG, Dipchand A, et al.: International Society for Heart and Lung Transplantation working formulation of a standardized nomenclature for cardiac allograft vasculopathy, J Heart Lung Transplant 29:717–727, 2010 90 30 Reference deleted in proofs 31 Bacal F, Moreira L, Souza G, et al.: Dobutamine stress echocardiography predicts cardiac events or death in asymptomatic patients long-term after heart transplantation: 4-year prospective evaluation, J Heart Lung Transplant 23:1238–1244, 2004 Familial Cardiomyopathies Jennifer L Hellawell, MD, Frederick L Ruberg, MD, Ravin Davidoff, MBBCh This chapter reviews three of the most common familial neuromuscular diseases that have significant cardiac manifestations: Friedreich ataxia (FA), myotonic dystrophy, and Duchenne muscular dystrophy These syndromes vary significantly in their inheritance patterns, epidemiology, and cardiac manifestations (Table 90.1) FRIEDREICH ATAXIA Friedreich ataxia is an autosomal recessive disease characterized by spinocerebellar degeneration that leads to progressive ataxia, diabetes mellitus, and cardiac abnormalities FA is the most prevalent of all spinocerebellar ataxias and occurs in an estimated in 50,000 Caucasians.1 It was originally described in 1863 by the German neurologist and pathologist, Nikolaus Friedreich, and is caused by the expansion of a series of trinucleotide repeats in the gene coding for frataxin, which is a protein that plays a central role in mitochondrial iron transport Deficiency of frataxin is thought to cause mitochondrial iron accumulation in neurons, cardiomyocytes, and other cell types, which results in cellular and subsequent organ dysfunction.2 Cardiac Manifestations Up to 90% of patients with FA have cardiac involvement, which is characterized microscopically by cardiomyocyte hypertrophy, focal necrosis, and diffuse fibrosis There are two different resulting cardiac phenotypes The most common form is hypertrophic cardiomyopathy, which can be further subdivided into asymmetric hypertrophy, which predominantly involves the septum, or concentric left ventricular (LV) hypertrophy The other observed phenotype is a dilated cardiomyopathy with global hypokinesis.3 There is no apparent relationship between the degree of neurologic and cardiac involvement Cardiac involvement is not only common in FA, but it is also a frequent cause of death In one retrospective study of patients with FA, death from a cardiac cause was the most frequent cause of death (59%), with most mechanisms being congestive heart failure or arrhythmia.4 Compared with noncardiac deaths, cardiac deaths occurred earlier in the disease course (median 17 years vs 29 years, respectively).4 Imaging The classic echocardiographic finding in FA is increased LV wall thickness, which most commonly involves the septum (Fig 90.1).5 Although the degree of overall cardiac involvement does not correlate with the degree of neuromuscular dysfunction, the degree of septal thickening on echocardiography has been correlated with the number of glutamic acid (GAA) triplet repeats in some studies.6 Unlike the asymmetric septal hypertrophy associated with other conditions, such as hypertrophic obstructive cardiomyopathy, there is no intracavitary gradient typically seen in FA cardiomyopathy Cardiac magnetic resonance (CMR) imaging in FA similarly reveals the hypertrophy seen by echocardiography.7 Myocardial perfusion studies using CMR imaging with an adenosine stress modality have demonstrated a reduced myocardial perfusion reserve index, which appears to parallel development of the metabolic syndrome in these patients (Fig 90.2).2 Because impaired perfusion reserve does not appear to correlate with the degree of hypertrophy or fibrosis, this may represent a new therapeutic target in patients with FA.2 TABLE 90.1 Characteristics of Familial Cardiomyopathies Familial Cardiomyopathy Genetics ECG Findings Echo Findings CMR Findings Friedreich ataxia Autosomal recessive Triplet repeat $90% have cardiac involvement Autosomal dominant Clinical anticipation $37%–80% have cardiac involvement X-linked $100% have cardiac involvement Concentric LVH with no intracavitary gradient Asymmetric septal hyperophy Globally decreased LV systolic function Often normal Rare systolic dysfunction Subendocardial perfusion abnormality in stress CMR with LGE in LGE CMR imaging Myotonic dystrophy Repolarization abnormalities Inferolateral T-wave inversions Mismatch between increased LV mass and absence of LVH by voltage Atrial fibrillation and flutter Varying degrees of AV block and bundle branch block Sinus tachycardia Right axis Posterior and Inferolateral pseudo-infarct pattern with deep inferolateral Q waves, tall R wave in lead V1 Focal hypokinesis basal inferolateral wall Mitral regurgitation when involving posterior papillary muscle Duchenne muscular dystrophy Focal fibrosis usually involving mid-myocardium to epicardium with endocardial sparing in LGE CMR imaging Subepicardial and midmyocardial fibrosis involving inferolateral and anterolateal segments in LGE CMR imaging CMR, Cardiac magnetic resonance; LGE, late gadolinium enhancement; LV, left ventricular; LVH, left ventricular hypertrophy Familial Cardiomyopathies 377 90 RV RVO Vs AV LV LA PW Vs LA PW Figure 90.1 Echocardiogram in Friedreich ataxia The myocardium, including the papillary muscles, is diffusely increased in thickness and has a granular texture AV, Aortic valve; LA, left atrium; LV, left ventricle; PW, posterior wall; RV, right ventricle; RVO, right ventricular outflow; Vs, ventricular septum Figure 90.2 Friedreich ataxia stress perfusion cardiac magnetic resonance imaging Stress perfusion (top), resting perfusion (middle), and late postgadolinium imaging shows a significant subendocardial perfusion abnormality, which is most prominent along the basal inferoseptum as seen in the horizontal long-axis (left) and basal short-axis (right) planes Corresponding late gadolinium enhancement images show no late gadolinium enhancement in the region of perfusion abnormalities that are consistent with absence of infarct scar or fibrosis 378 SECTION XIV Cardiomyopathies Management Cardiac Manifestations Although guidelines for screening in FA are lacking, a consensus is emerging that patients with this diagnosis benefit from cardiac screening with an annual electrocardiogram (ECG), echocardiogram, and/or CMR imaging, with follow-up imaging dictated by symptoms and/or changes on the ECG.1 Treatment of the cardiomyopathy involves early initiation of agents that reduce afterload and that may also reduce fibrosis (e.g., angiotensin-converting enzyme inhibitors and angiotensin receptor blockers).8 Other treatment modalities, including antioxidants and iron chelation, are under investigation.9 Cardiac manifestations are the hallmark of DM1 and include a variety of conduction system disturbances, usually involving the HisPurkinje system The overall incidence of ECG abnormalities in these patients ranges from 37% to 80%.11 The histopathology involves fibrosis and fatty infiltration of the conduction system and nodal tissue The most common conduction abnormalities are a slowing of conduction, such as atrioventricular block or bundle branch block, but up to 25% of patients can also have tacharrhythmias, with atrial fibrillation being the most common, in up to 25% of patients Sudden death represents 2% to 30% of fatalities in patients with DM1, with proposed mechanisms of ventricular asystole and ventricular arrhythmias.12 Although much less frequent than the electrophysiologic manifestations, dilated cardiomyopathy may occur in DM Myotonic dystrophy Myotonic dystrophy (DM) is the most common form of muscular dystrophy that presents in adult life, with an estimated prevalence of in 8000 It is a multisystem and heterogeneous inherited disease that manifests as an autosomal dominant inheritance pattern with variable penetrance; not all carriers of the gene express the characteristic phenotype DM also displays clinical anticipation, a phenomenon in which symptoms manifest at an earlier age and often with greater severity in subsequent generations.10 The disease manifests in three different forms—congenital, classical, and minimal—and is also classified into DM1 and DM2 based upon the mutated gene Classic DM, which is also referred to as Steinert disease or DM1, was first described in 1909 by Hans Steinert It results from expansion of a trinucleotide repeat in the gene DM protein kinase (DMPK).11 Classic DM onset begins between the second and sixth decades of life and usually presents with myotonia or muscle weakness, cataracts, and cardiac involvement Congenital DM (also DM1) is symptomatic within the first year of life and usually presents with respiratory and feeding problems, maternal polyhydramnios, and diffuse muscle weakness Minimal MD (DM2) is a milder form of the disease that results from expansion of a tetranucleotide repeat in the gene ZNF9 Minimal DM presents later in life, with clinical manifestations of cataracts and mild muscle weakness Imaging In keeping with the previously described manifestations, patients with DM may have dilated cardiomyopathy with increased wall thickness and decreased systolic function In one study that characterized echocardiographic findings in 382 patients with DM1, 20% of patients had LV hypertrophy, 19% had LV dilation, 14% had LV systolic dysfunction, and 11% had regional wall motion abnormalities.13 CMR imaging can identify focal fibrosis, as identified by late gadolinium enhancement (LGE), in a mid-myocardial pattern with occasional extension into the epicardium and notable endocardial sparing (Fig 90.3).14 Management Diagnosis of cardiac involvement involves careful review of cardiac symptoms and an annual ECG, with a low threshold for ambulatory monitoring in appropriate patients Many patients are asymptomatic in their cardiac disease due to exertional limitations A B C D Figure 90.3 Myotonic dystrophy cardiac magnetic resonance imaging with late gadolinium enhancement Late gadolinium enhancement images in short-axis (A to C) and 4-chamber long-axis views (D) of four patients with myotonic dystrophy type Regions of increased signal intensity are between the arrows, which indicates focal fibrosis, and is visible as mid-myocardial enhancement to epicardial enhancement with endocardial sparing Familial Cardiomyopathies 379 90 Figure 90.4 Duchenne muscular dystrophy electrocardiogram Sinus tachycardia at rest, deep inferolateral Q waves, tall R wave in lead V1, and rightaxis deviation (Courtesy Dr Phillip Podrid, VA Boston Medical Center, Boston, Massachusetts) from neuromuscular involvement Management of manifest conduction system problems in these patients is no different than in other patients and should be guided by American College of Cardiology/ American Heart Association (ACC/AHA) guidelines.15 However, because studies show that patients experience a high burden of asymptomatic bradyarrhythmias and tachyarrhythmias, maintaining a low threshold for invasive electrophysiological testing and device implantation may be appropriate.16 DUCHENNE MUSCULAR DYSTROPHY Duchenne muscular dystrophy (DMD) is caused by an X-linked mutation that results in complete or near-complete loss of the dystrophin protein (at locus Xp21) and has an estimated incidence of in 3500 males Dystrophin is a high-molecular-weight structural protein that connects the cytoskeletal apparatus of the skeletal myocyte to the extracellular matrix Loss of this protein results in a cascade of events that are ultimately lethal to the myocyte and result in muscle loss and progressive skeletal muscle weakness, which usually begins in the second decade of life It was first described in 1836 as a syndrome with both skeletal muscle and cardiac involvement.17 A Cardiac Manifestations Cardiomyopathy is a prominent feature of DMD In an observational study of more than 300 patients with DMD, clinically apparent cardiomyopathy was first seen at age 10 years and apparent in all patients by age 20 years The pathognomonic histologic finding of focal myocardial fibrosis of the inferolateral base in DMD cardiomyopathy was first described in autopsy studies in the 1930s.17 Scintigraphic and magnetic resonance imaging studies suggest that abnormalities in glucose and fat metabolism in the posterolateral wall segments may contribute to the characteristic focal wall motion abnormality seen in Duchenne.18,19 Imaging The ECGs of patients with DMD typically reveal a pseudomyocardial infarction pattern of the posterolateral walls, characterized by inferolateral Q waves and a tall R wave in lead V1 (Fig 90.4) By echocardiography, a concordant wall motion abnormality is observed in the basal inferolateral wall (Fig 90.5/Video 90.5, A, B) B Figure 90.5 Duchenne muscular dystrophy echocardiogram Focal wall motion abnormality is seen in the basal inferolateral wall in the absence of significant coronary disease Findings apparent in the (A) parasternal long-axis view and (B) parasternal short-axis view 380 SECTION XIV Cardiomyopathies Figure 90.6 Cardiac magnetic resonance imaging of Duchenne muscular dystrophy (A) Basal and (B) mid-cavity slices of subepicardial and midmyocardial fibrosis involving the inferolateral and anterolateral segments in a patient with Duchenne muscular dystrophy The white late gadolinium enhancement region (arrow) is fibrosis, whereas the black region represents the normal myocardium Over time, the fibrosis can also extend into the lateral wall and may involve the posterolateral papillary muscle, which results in secondary mitral regurgitation Fibrosis can be visualized by LGE CMR, and is also seen in the inferior, inferolateral, and anterolateral segments.20 LGE usually begins in the subepicardium and can then extend into the mid-myocardium or become transmural (Fig 90.6).21 Management The guidelines for screening for cardiac involvement in known male carriers of the dystrophin mutation include ECG and transthoracic echocardiography in children younger than 10 years of age as a baseline study and then yearly thereafter.16 For asymptomatic female carriers, ECG and transthoracic echocardiography should be performed every years after the age of 16 years.16 Unfortunately, the cardiomyopathy of DMD does not respond well to conventional therapies for heart failure, such as β-blockade and afterload reduction However, it is reasonable to introduce these therapies and titrate to symptomatic benefit In addition, DMD patients with severe systolic dysfunction should also be considered for implantable cardiac defibrillators for primary prevention of sudden cardiac death according to 2008 ACC/AHA/Health Resources and Services Administration guidelines.15 SUMMARY FA, DM, and DMD are uncommon familial cardiomyopathies that vary significantly in their mode of transmission, epidemiology, and cardiac manifestations, with characteristic associated findings on ECG, echocardiography, and CMR (see Table 90.1) The syndromes themselves were described before the era of genetic identification; the reported clinical phenotypes, ages of onset, and disease severity can be difficult to categorize One unifying feature of these inherited diseases is that cardiac involvement is unpredictable and often unrelated to duration of diagnosis or severity of neurologic or skeletal muscular disease In addition, life expectancy in patients with cardiac involvement in these diseases is considerably reduced, either due to arrhythmic complications or heart failure The risk of sudden cardiac death can be mitigated with appropriate electrophysiologic studies or device implantation and heart failure therapy For this reason, early consideration of cardiac involvement and assessment with appropriate imaging modalities is essential to diagnose and treat cardiac manifestations of these neuromuscular syndromes Please access ExpertConsult to see the corresponding videos for this chapter REFERENCES Weidemann F, Rummey C, Bijnens B, et al.: The heart in Friedreich ataxia: definition of cardiomyopathy, disease severity, and correlation with neurological symptoms, Circulation 125:1626–1634, 2012 Raman SV, Dickerson JA, Al-Dahhak R: Myocardial ischemia in the absence of epicardial coronary artery disease in Friedreich’s ataxia, J Cardiovasc Magn Reson 10:15, 2008 Child JS, Perloff JK, Bach PM, et al.: Cardiac involvement in Friedreich’s ataxia: a clinical study of 75 patients, J Am Coll Cardiol 7:1370–1378, 1986 Tsou AY, Paulsen EK, Lagedrost SJ, et al.: Mortality in Friedreich ataxia, J Neurol Sci 307:46–49, 2011 Alizad A, Seward JB: Echocardiographic features of genetic diseases: part Cardiomyopathy, J Am Soc Echocardiogr 13:73–86, 2000 Dutka DP, Donnelly JE, Nihoyannopoulos P, et al.: Marked variation in the cardiomyopathy associated with Friedreich’s ataxia, Heart 81:141–147, 1999 Meyer C, Schmid G, Gorlitz S, et al.: Cardiomyopathy in Friedreich’s ataxiaassessment by cardiac MRI, Mov Disord 22:1615–1622, 2007 Payne RM: The heart in Friedreich’s ataxia: vasic findings and clinical implications, Prog Pediatr Cardiol 31:103–109, 2011 Velasco-Sanchez D, Aracil A, Montero R, et al.: Combined therapy with idebenone and deferiprone in patients with Friedreich’s ataxia, Cerebellum 10:1–8, 2011 10 Melacini P, Villanova C, Menegazzo E, et al.: Correlation between cardiac involvement and CTG trinucleotide repeat length in myotonic dystrophy, J Am Coll Cardiol 25:239–245, 1995 Echocardiography in Cor Pulmonale and/or Pulmonary Heart Disease 11 Phillips MF, Harper PS: Cardiac disease in myotonic dystrophy, Cardiovasc Res 33:13–22, 1997 12 Pelargonio G, Dello Russo A, Sanna T, et al.: Myotonic dystrophy and the heart, Heart 88:665–670, 2002 13 Mathieu J, Allard P, Potvin L, et al.: A 10-year study of mortality in a cohort of patients with myotonic dystrophy, Neurology 52:1658–1662, 1999 14 Hermans MC, Faber CG, Bekkers SC, et al.: Structural and functional cardiac changes in myotonic dystrophy type 1: a cardiovascular magnetic resonance study, J Cardiovasc Magn Reson 14:48, 2012 15 Epstein AE, Dimarco JP, Ellenbogen KA, et al.: ACC/AHA/HRS 2008 guidelines for device-based therapy of cardiac rhythm abnormalities: executive summary, Heart Rhythm 5:934–955, 2008 16 Bouhouch R, Elhouari T, Oukerraj L, et al.: Management of cardiac involvement in neuromuscular diseases: review, Open Cardiovasc Med J 2:93–96, 2008 91 381 17 Nigro G, Comi LI, Politano L, et al.: The incidence and evolution of cardiomyopathy in Duchenne muscular dystrophy, Int J Cardiol 26:271–277, 1990 18 Perloff JK, Henze E, Schelbert HR: Alterations in regional myocardial metabolism, perfusion, and wall motion in Duchenne muscular dystrophy studied by radionuclide imaging, Circulation 69:33–42, 1984 19 Suttie JJDS, Karamitsos TD, Holloway CJ, et al.: Becker and Duchenne muscular dystrophy (BMD, DMD) are associated with myocardial fibrosis and abnormal cardiac energetics even in the presence of normal left ventricular ejection fraction, J Cardiovasc Magn Reson 12:1–4, 2010 20 Verhaert D, Richards K, Rafael-Fortney JA, et al.: Cardiac involvement in patients with muscular dystrophies: magnetic resonance imaging phenotype and genotypic considerations, Circ Cardiovasc Img 4:67–76, 2011 21 Bilchick KC, Salerno M, Plitt D, et al.: Prevalence and distribution of regional scar in dysfunctional myocardial segments in Duchenne muscular dystrophy, J Cardiovasc Magn Reson 13:20, 2011 Echocardiography in Cor Pulmonale and/or Pulmonary Heart Disease Danita M Yoerger Sanborn, MD Cor pulmonale involves changes in the right heart that result from intrinsic lung disease The disorder has been divided into acute and chronic subforms The acute form most commonly occurs as a result of the acute pressure and volume overload from a large thromboembolic event to the pulmonary arteries (discussed in Chapter 38), whereas the chronic form occurs as a result of intrinsic diseases of the pulmonary parenchyma, ventilatory drive, or vascular bed.1 Right ventricular (RV) dilatation and hypertrophy develop due to hypoxic vasoconstriction of the pulmonary vasculature with resultant pulmonary arterial hypertension (PAH) The development of cor pulmonale is generally associated with poor prognosis and increased mortality The pathologic definition of cor pulmonale was proposed by the World Health Organization in 1963,2 which describes the disease as “hypertrophy of the right ventricle resulting from diseases affecting the function and/or structure of the lungs, except when these pulmonary alterations are a result of diseases that primarily affect the left side of the heart, as in congenital heart disease.” The definition has evolved to include RV hypertrophy, dilatation, or both, caused by pulmonary disorders (Fig 91.1/Video 91.1).3 RV RA LV LA Figure 91.1 Apical 4-chamber view depicting right ventricular dilatation and hypertrophy LA, left atrium; LV, left ventricle; RA, right atrium; RV, right ventricle Primary pulmonary hypertension (PPH) is one of the causes of chronic cor pulmonale; the echocardiographic features have been extensively documented in the literature Other common causes include chronic obstructive pulmonary disease (COPD), recurrent pulmonary thromboembolism, and sleep apnea A large number of other diseases can lead to cor pulmonale, including (but not limited to) cystic fibrosis, interstitial lung disease, sickle cell anemia, sarcoidosis, and neuromuscular and chest wall disorders (such as kyphoscoliosis, amyotrophic lateral sclerosis, muscular dystrophy, and myasthenia gravis).1,4 Although COPD is a very common disease, there is significant heterogeneity in the disease severity, and not all COPD patients develop cor pulmonale Severe pulmonary hypertension (defined as mean PA pressure >40 mm Hg) is considered to be uncommon (