Ebook Essential echocardiography - A companion to braunwald’s heart disease: Part 1

Part 1 book “Essential echocardiography - A companion to braunwald’s heart disease” has contents: Physical principles of ultrasound and generation of images, M-mode imaging, principles of contrast echocardiography, principles of transesophageal echocardiography, principles of three-dimensional ultrasound,… and other contents.

ESSENTIAL ECHOCARDIOGRAPHY A Companion to Braunwald’s Heart Disease Scott D Solomon, MD The Edward D Frohlich Distinguished Chair Professor of Medicine, Harvard Medical School Director Director, Noninvasive Cardiology Brigham and Women’s Hospital Boston, Massachusetts Justina C Wu, MD, PhD Assistant Professor of Medicine Co-Director, Noninvasive Cardiology Brigham and Women’s Hospital Boston, Massachusetts Linda D Gillam, MD, MPH, FACC, FASE, FESC Dorothy and Lloyd Huck Chair Department of Cardiovascular Medicine Medical Director, Cardiovascular Service Line Morristown Medical Center/Atlantic Health System Morristown, New Jersey Professor of Medicine Sidney Kimmel Medical College Thomas Jefferson University Philadelphia, Pennsylvania Illustration Editor Bernard E Bulwer, MD, FASE Noninvasive Cardiovascular Research Cardiovascular Division Brigham and Women’s Hospital Boston, Massachusetts 1600 John F Kennedy Blvd Ste 1800 Philadelphia, PA 19103-2899 Essential Echocardiography ISBN: 978-0-323-39226-6 Copyright © 2019 by Elsevier, Inc All rights reserved 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 Names: Solomon, Scott D., editor | Wu, Justina C., editor | Gillam, Linda   D., editor Title: Essential echocardiography : a companion to Braunwald’s Heart disease   / [edited by] Scott D Solomon, Justina C Wu, Linda D Gillam ;   illustration editor, Bernard E Bulwer Other titles: Essential echocardiography (2019) | Complemented by   (expression): Braunwald’s heart disease 10th edition Description: Philadelphia, PA : Elsevier, [2019] | Complemented by:   Braunwald’s heart disease / edited by Douglas L Mann, Douglas P Zipes,   Peter Libby, Robert O Bonow, Eugene Braunwald 10th edition 2015 |   Includes bibliographical references and index Identifiers: LCCN 2017045233 | ISBN 9780323392266 (pbk : alk paper) Subjects: | MESH: Echocardiography Classification: LCC RC683.5.E5 | NLM WG 141.5.E2 | DDC 616.1/207543 dc23 LC record available at https://lccn.loc.gov/2017045233 Executive Content Strategist: Dolores Meloni Senior Content Development Specialist: Rae Robertson Publishing Services Manager: Catherine Jackson Project Manager: Tara Delaney Design Direction: Renee Duenow Printed in China Last digit is the print number: 9 8 7 6 5 4 3 2 1 To Caren, Will, Katie, and Dan Scott D Solomon To Tsu-ming and Grace Justina C Wu To John, Laura, and Jack Linda D Gillam To all who made this possible, and to my parents, Albertha and Joseph Bernard E Bulwer Contributors Theodore Abraham, MD Meyer Friedman Distinguished Professor of Medicine Director, Echocardiography University of California at San Francisco San Francisco, California Vikram Agarwal, MD, MPH Noninvasive Cardiovascular Imaging Program Department of Medicine (Cardiology) and Radiology Brigham and Women’s Hospital Boston, Massachusetts Lillian Aldaia, MD Department of Cardiovascular Medicine Morristown Medical Center, Gagnon Cardiovascular Institute Morristown, New Jersey M Elizabeth Brickner, MD Professor Department of Internal Medicine Division of Cardiology UT Southwestern Medical Center Dallas, Texas Bernard E Bulwer, MD, FASE Noninvasive Cardiovascular Research Cardiovascular Division Brigham and Women’s Hospital Boston, Massachusetts Romain Capoulade, PhD Patrycja Z Galazka, MD Division of Cardiovascular Medicine Brigham and Women’s Hospital Boston, Massachusetts Linda D Gillam, MD, MPH, FACC, FASE, FESC Dorothy and Lloyd Huck Chair Department of Cardiovascular Medicine Medical Director, Cardiovascular Service Line Morristown Medical Center/Atlantic Health System Morristown, New Jersey Professor of Medicine Sidney Kimmel Medical College Thomas Jefferson University Philadelphia, Pennsylvania Alexandra Goncalves, MD, MMSc, PhD Cardiovascular Division Brigham and Women’s Hospital Boston, Massachusetts Department of Physiology and Cardiothoracic Surgery University of Porto Medical School Porto, Portugal John Gorcsan III, MD Professor of Medicine Director of Clinical Research Washington University in St Louis St Louis, Missouri John D Groarke, MBBCh, MSc, MPH Echocardiography Massachusetts General Hospital Boston, Massachusetts Brigham and Women’s Hospital Heart and Vascular Center; Cardio-Oncology Program Dana-Farber Cancer Institute/Brigham and Women’s Hospital Boston, Massachusetts Maja Cikes, MD, PhD Deepak K Gupta, MD Sarah Cuddy, MBBCh Rebecca T Hahn, MD, FACC, FASE Assistant Professor Department for Cardiovascular Diseases University of Zagreb School of Medicine University Hospital Centre Zagreb Zagreb, Croatia Brigham and Women’s Hospital Heart and Vascular Center Boston, Massachusetts Jan D’hooge, PhD Assistant Professor of Medicine Division of Cardiovascular Medicine Vanderbilt Translational and Clinical Cardiovascular Research Center Vanderbilt University Medical Center Nashville, Tennessee Director of Interventional Echocardiography Center for Interventional and Vascular Therapy Columbia University Medical Center New York, New York Professor Department of Cardiovascular Sciences University of Leuven Leuven, Belgium Sheila M Hegde, MD Rodney H Falk, MD Carolyn Y Ho, MD Division of Cardiovascular Medicine Brigham and Women’s Hospital Boston, Massachusetts Cardiovascular Division Brigham and Women’s Hospital Boston, Massachusetts Cardiovascular Division Brigham and Women’s Hospital Boston, Massachusetts vii viii Contributors Stephen J Horgan, MB, BCh, PhD Cardiology Fellow Morristown Medical Center Morristown, New Jersey Judy Hung, MD Associate Director Echocardiography Division of Cardiology Massachusetts General Hospital Boston, Massachusetts Eric M Isselbacher, MD, MSc Director, Healthcare Transformation Lab Co-Director, Thoracic Aortic Center Massachusetts General Hospital Associate Professor of Medicine Harvard Medical School Boston, Massachusetts Kurt Jacobsen, RDCS Lead Sonographer Echocardiography Lab Brigham & Women’s Hospital Boston, Massachusetts Konstantinos Koulogiannis, MD Associate Director Cardiovascular Core Lab Department of Cardiovascular Medicine Morristown Medical Center Morristown, New Jersey André La Gerche, MBBS, PhD Laboratory Head Department of Sports Cardiology Baker Heart and Diabetes Institute Cardiologist St Vincent’s Hospital Melbourne, Victoria, Australia Visiting Professor Department of Cardiovascular Medicine KU Leuven Leuven, Brabant, Belgium Jonathan R Lindner, MD M Lowell Edwards Professor of Cardiology Knight Cardiovascular Institute and Oregon National Prime Research Center Oregon Health & Science University Portland, Oregon Dai-Yin Lu, MD Instructor National Yang-Ming University School of Medicine Taipei, Taiwan Visiting Scientist Department of Cardiology The Johns Hopkins University School of Medicine Baltimore, Maryland Judy R Mangion, MD, FACC, FAHA, FASE Associate Director of Echocardiography Department of Cardiovascular Medicine Brigham and Women’s Hospital Boston, Massachusetts Warren J Manning, MD Section Chief, Non-invasive Cardiac Imaging & Testing Cardiovascular Division Beth Israel Deaconess Medical Center Professor of Medicine and Radiology Harvard Medical School Boston, Massachusetts Leo Marcoff, MD Director of Interventional Echocardiography Department of Cardiovascular Medicine Morristown Medical Center Morristown, New Jersey Assistant Professor of Medicine Sidney Kimmel Medical College Thomas Jefferson University Philadelphia, Pennsylvania Thomas H Marwick, MBBS, PhD, MPH Director and Chief Executive, Professor Baker Heart and Diabetes Institute Melbourne, Victoria, Australia Federico Moccetti, MD Oregon Health & Science University Portland, Oregon Cardiovascular Division University Hospital Basel Basel, Switzerland Monica Mukherjee, MD, MPH Assistant Professor of Medicine Department of Cardiology Johns Hopkins University Baltimore, Maryland Denisa Muraru, MD, PhD Department of Cardiac, Thoracic, and Vascular Sciences University of Padua Padua, Italy Jagat Narula, MD, DM, PhD Associate Dean for Global Affairs and Professor Departments of Medicine and Cardiology Icahn School of Medicine at Mount Sinai New York, New York Faraz Pathan, MBBS Imaging Cardiovascular Fellow Menzies Institute for Medical Research Hobart, Tasmania, Australia Elke Platz, MD, MS Assistant Professor Department of Emergency Medicine Brigham and Women’s Hospital Harvard Medical School Boston, Massachusetts Jose Rivero, MD, RDCS Cardiovascular Department Brigham and Women’s Hospital Boston, Massachusetts ix Mário Santos, MD, PhD Sara B Seidelmann, MD, PhD Cardiovascular Division Brigham and Women’s Hospital Boston, Massachusetts Keri Shafer, MD Adult Congenital Heart Disease Cardiologist Brigham and Women’s Hospital Instructor Boston Children’s Hospital Harvard Medical School Boston, Massachusetts Amil M Shah, MD, MPH Assistant Professor of Medicine Harvard Medical School Associate Physician Division of Cardiovascular Medicine Brigham and Women’s Hospital Boston, Massachusetts Douglas C Shook, MD, FASE Chief, Division of Cardiac Anesthesia Department of Anesthesiology, Perioperative and Pain Medicine Brigham and Women’s Hospital, Harvard Medical School Boston, Massachusetts Scott D Solomon, MD The Edward D Frohlich Distinguished Chair Professor of Medicine, Harvard Medical School Director, Noninvasive Cardiology Brigham and Women’s Hospital Boston, Massachusetts Jordan B Strom, MD Division of Cardiovascular Disease Beth Israel Deaconess Medical Center Instructor in Medicine Harvard Medical School Boston, Massachusetts Timothy C Tan, MBBS, PhD Clinical Associate Professor Department of Cardiology Westmead Hospital University of Sydney Westmead, Australia Conjoint Associate Professor Department of Cardiology Blacktown Hospital, Western Sydney University Blacktown, Australia Eliza P Teo, MBBS The Department of Cardiology Royal Melbourne Hospital Melbourne, Australia Seth Uretsky, MD, FACC Medical Director of Cardiovascular Imaging Department of Cardiovascular Medicine Morristown Medical Center Morristown, New Jersey Professor of Medicine Sidney Kimmel School of Medicine Thomas Jefferson University Philadelphia, Pennsylvania Rory B Weiner, MD Inpatient Medical Doctor Cardiology Division Massachusetts General Hospital; Assistant Professor of Medicine Harvard Medical School Boston, Massachusetts Leah Wright, BAppSc Baker Heart and Diabetes Institute Melbourne, Victoria, Australia Justina C Wu, MD, PhD Assistant Professor of Medicine Co-Director, Noninvasive Cardiology Brigham and Women’s Hospital Boston, Massachusetts Contributors Faculty of Medicine Department of Physiology and Cardiothoracic Surgery Cardiovascular R&D Unit University of Porto Department of Cardiology Porto Hospital Center Porto, Portugal Preface Echocardiography, or cardiac ultrasound, is the most commonly used imaging technique to visualize the heart and great vessels It remains an essential tool for cardiovascular evaluation and management despite the emergence of other imaging techniques such as cardiac magnetic resonance, computed tomography, and nuclear imaging (SPECT and PET) Echocardiography has proven diagnostic and prognostic value in the vast majority of cardiovascular diseases Compared to other techniques, it is relatively noninvasive, inexpensive, and has none of the harmful effects of ionizing radiation Because it is increasingly portable and available in virtually any clinical setting, it may be used by a wide variety of practitioners, including cardiologists, intensivists, emergency physicians, anesthesiologists, and others The practice of echocardiography requires a strong knowledge of the physical principles underlying ultrasound, an understanding of cardiac anatomy and physiology, and an appreciation of the ultrasonic appearance of both normal variants and different cardiovascular diseases Moreover, echocardiography, at its core, is a hands-on technique in which obtaining high-quality images is dependent on the skill and training of the operator Essential Echocardiography: A Companion to Braunwald’s Heart Disease, is designed as a textbook in echocardiography for anyone interested in learning the technique, including practicing cardiologists, cardiology fellows, sonographers, anesthesiologists, critical care physicians, emergency physicians, radiologists, residents, and medical students The text is designed to be simple enough to serve as an introduction to the field, yet comprehensive enough to serve as a reference for experienced practitioners Written by expert echocardiographers and sonographers with an emphasis on the practical rather than the esoteric, the book focuses on the basic principles of anatomy, physiology, and the hands-on approaches necessary to acquire and interpret echocardiographic images with a rigorous focus on clinical care The abundant illustrations, most of which are also available on Expert Consult, underscore the importance of visual learning in echocardiography The images selected comprise an extensive collection of classic and clear examples, representing decades of experience over multiple institutions and also recent advances in the field Echocardiography remains a vital and evolving technology As a part of the Heart Disease family, Essential Echocardiography will ensure that students and practitioners of cardiology will have the tools and skills necessary to apply ultrasonic imaging to the care of cardiac patients Scott D Solomon, MD Justina C Wu, MD, PhD Linda D Gillam, MD, MPH, FACC, FASE, FESC Eugene Braunwald, MD xi Braunwald’s Heart Disease Family of Books BRAUNWALD’S HEART DISEASE COMPANIONS BHATT Cardiovascular Intervention DE LEMOS AND OMLAND Chronic Coronary Artery Disease ANTMAN AND SABATINE Cardiovascular Therapeutics ISSA, MILLER, AND ZIPES Clinical Arrhythmology and Electrophysiology xxiii xxiv BAKRIS AND SORRENTINO Hypertension MCGUIRE AND MARX Diabetes in Cardiovascular Disease KORMOS AND MILLER Mechanical Circulatory Support MANN AND FELKER Heart Failure MORROW Myocardial Infarction Braunwald’s Heart Disease Family of Books BALLANTYNE Clinical Lipidology 231 TABLE 23.1  American Society of Echocardiography 2011 Recommendations for Parameters to Be Assessed During Echocardiographic Evaluation of Hypertrophic Cardiomyopathy Presence of hypertrophy and its distribution; report should include measurements of LV dimensions and wall thickness (septal, inferior, and anterior) and location of maximal wall thickness RV hypertrophy and whether RV outflow dynamic obstruction is present LA volume indexed to body surface area Cardiac Function LV ejection fraction LV diastolic function (comments on LV relaxation and filling pressures) Valvular Function Mitral valve and papillary muscle evaluation, including the direction, mechanism, and severity of mitral regurgitation; if needed, TEE should be performed to satisfactorily answer these questions Estimation of pulmonary artery systolic pressure Assessment of Obstruction Dynamic obstruction at rest and with Valsalva maneuver; report should identify the site of obstruction and the gradient Management Considerations TEE is recommended to guide surgical myectomy and TTE or TEE to guide alcohol septal ablation Screening at-risk family members for the presence of disease is recommended LA, Left atrium; LV, left ventricular; RV, right ventricular; TEE, transesophageal echocardiography; TTE, transthoracic echocardiography Adapted from Nagueh SF, Bierig SM, Budoff MJ, et al American Society of Echocardiography clinical recommendations for multimodality cardiovascular imaging of patients with hypertrophic cardiomyopathy: endorsed by the American Society of Nuclear Cardiology, Society for Cardiovascular Magnetic Resonance, and Society of Cardiovascular Computed Tomography J Am Soc Echocardiogr 2011;24(5):473–498 A C B D FIG 23.2  Asymmetric septal hypertrophy in hypertrophic cardiomyopathy Images displaying asymmetric septal hypertrophy (all images are at end diastole) (A) Para- sternal long-axis view Red arrows demonstrate wall thickness asymmetry between the interventricular septum and the posterior wall (B) Short-axis view at the papillary muscle level, showing marked hypertrophy of the ventricular septum (C) Apical three-chamber view (D), Apical four-chamber view AO, Aorta; LA, left atrium; LV, left ventricle; RA, right atrium; RV, right ventricle; calibration marks = cm SARCOMERE GENE MUTATIONS CAUSE HYPERTROPHIC CARDIOMYOPATHY HCM is often familial and is in fact the most common inherited cardiomyopathy Genetic studies on families with HCM helped to establish the paradigm that HCM is a disease of the sarcomere and is caused by autosomal dominant mutations in genes that encode contractile proteins The sarcomere is the functional unit of contraction of the myocyte and acts as the molecular motor of the heart Over 1400 mutations have been identified in 11 different components of the sarcomere apparatus.2 Mutations in the cardiac isoforms of β-myosin heavy chain (MYH7), myosin binding protein C (MYBPC3), and troponin T (TNNT2) are the most frequent, together accounting for over 90% of cases where a genetic mutation has been identified.3 Genetic testing of known HCM disease genes (predominantly sarcomere genes) typically detects mutations in ∼30% of patients with HCM However, if a family history of HCM is also present, the yield of genetic testing increases to ∼60%.3 CARDIAC MORPHOLOGY Cardiac morphology in HCM is typically notable for small left ventricular volumes with variable location and degree of hypertrophy Although asymmetric septal hypertrophy (resulting in reversed septal curvature) is most common and classic (Fig 23.2 and Videos 23.1 and Hypertrophic Cardiomyopathy Cardiac Morphology 23 232 Echocardiography for Diseases of the Myocardium IV A B C D E F FIG 23.3  Concentric variant hypertrophic cardiomyopathy Images showing diffuse wall thickening involving substantial diffuse concentric hypertrophy (A) Parasternal long-axis view (diastolic) (B) Parasternal long-axis view (systolic) showing LV midcavitary obliteration during systole (C) Short-axis view at the papillary muscle level, showing global hypertrophy (D) Apical four-chamber view demonstrating significant anterolateral hypertrophy and RV hypertrophy (E) Apical two-chamber view (F) Subcostal view AS, Anteroseptal wall; LA, left atrium; LV, left ventricle; RV, right ventricle; VS, ventricular septum; calibration marks = cm 23.2), hypertrophy can involve any left ventricle (LV) segment and may be focal or concentric (Fig 23.3) In classic HCM, in addition to the asymmetric hypertrophy at the basal septum, the left ventricular cavity often has a narrow crescentic shape (Video 23.3) Apical hypertrophy is a well-described morphologic variant of HCM (Fig 23.4) in which hypertrophy occurs below the level of the papillary muscles in the distal portion of the LV chamber As such, apical HCM is not associated with left ventricular outflow tract (LVOT) obstruction but may instead cause dynamic obstruction within the mid-to-distal ventricle The LV often resembles the shape of a spade in diastole (see Fig 23.4B and Video 23.4) First reported in Japan4 and hence also referred to as “Yamaguchi variant,” the prevalence of apical variant HCM appears to be higher in individuals of Japanese versus Western descent (13%–25% vs 1%–2%).5 A family history of HCM and disease-causing sarcomere gene mutations are rarely identified in patients with apical HCM,6 suggesting that it is a different subtype of disease While early studies suggested a more benign prognosis for apical HCM, a broad spectrum of clinical outcomes has been described.7 Septal morphology is predictive of the presence of sarcomere mutations The likelihood of positive genetic testing is highest in patients with classic reversed septal curvature, and lowest in patients with a sigmoidal septum (focal upper septal thickening, Fig 23.5).8,9 Consistent correlations between the distribution of left ventricular hypertrophy (LVH) and clinical outcomes have not been established Furthermore, even within families with HCM who share the same underlying sarcomere mutation, LV morphology is often varied.10 Cardiac morphology may occasionally not be adequately assessed by echocardiography due to suboptimal visualization of the LV apex, free wall, or endocardial/epicardial borders In these cases, echocardiographic contrast administration or cardiac magnetic resonance (CMR) imaging should be considered to clarify the LV geometry (Fig 23.6) Similarly, apical aneurysm (Fig 23.7 and Video 23.5) is not only a rare consequence associated with obstructive HCM of any morphology that may be visualized with standard echocardiographic techniques, but may also require color Doppler interrogation or LV cavity opacification by echocardiographic contrast to aid with proper identification The consequences of apical aneurysms are unclear, but they have been suggested to be associated with sudden death, progressive heart failure, and thromboembolic complications in a small patient series.11,12 Standard septal and posterior dimensions, as well as maximum wall thickness and its location, determined after inspecting all 233 23 B C D FIG 23.4  Apical variant hypertrophic cardiomyopathy Apical hypertrophy is a well-described morphologic variant of hypertrophic cardiomyopathy (HCM) Hypertrophy occurs below the level of the papillary muscles, in the distal portion of the LV chamber As such, apical HCM does not result in left ventricular outflow obstruction (A) Parasternal long-axis view (B) Apical four-chamber view showing hypertrophy of the apical segments (C) Parasternal short-axis view at the papillary muscle level, without significant hypertrophy (D) Parasternal short-axis view at the apical level, showing hypertrophy of the apical segments AS, Anteroseptal wall; LA, left atrium; LV, left ventricle; RV, right ventricle; VS, ventricular septum; *, apical segments with focal hypertrophy FIG 23.5  Septal morphologies in hypertrophic cardiomyopathy Illustration demonstrating different septal morphologies and their relation to likelihood that a sarcomere mutation will be identified with genetic testing (Modified from Binder J, Ommen SR, Gersh BJ, et al Echocardiography-guided genetic testing in hypertrophic cardiomyopathy: septal morphological features predict the presence of myofilament mutations Mayo Clin Proc 2006;81(4):459–467.) imaging views, should be reported (see Table 23.1) In general, in the absence of another etiology for LV hypertrophy (i.e., pressure overload or infiltrative processes), a septal wall thickness (IVSd) ≥15 mm or a septal:posterior wall thickness ratio ≥1.3 support a diagnosis of HCM Modified diagnostic criteria should be considered when evaluating relatives of HCM patients, recognizing the much higher a priori risk for HCM in the family members of patients with diagnosed disease As summarized in Table 23.2,13,14 more subtle abnormalities, particularly borderline or mild LVH, carry greater significance in this context Other suggestive features that a sarcomere mutation is present include diastolic abnormalities (decreased early myocardial relaxation velocities, e′, by tissue Doppler interrogation)15–17 and electrocardiographic changes (Q waves and marked repolarization changes such as ST segment depression and T wave inversion; see Fig 23.6D).18 Lastly, left atrial (LA) enlargement, measured by anteroposterior linear dimensions or more accurately by volume, appears to be a marker for disease severity and is increased in patients with higher New York Heart Association (NYHA) classes Other incidental findings on echocardiography are common in classic HCM The aortic leaflets tend to close early in midsystole as mitral-septal contact occurs, which can be observed particularly clearly on M-mode (Fig 23.8) M-mode also can clearly diagram the systolic anterior motion (SAM) of the mitral leaflets in systole (refer to Fig 23.13C later) Twodimensional imaging of the LV may reveal an area of echogenicity and fibrotic thickening at the point of the repetitive SAM-mitral septal contact, which correlates with pathologic findings of a friction plaque Mitral leaflets are occasionally elongated and/or chordal structures more slack, which may predispose or contribute to SAM The mitral regurgitation (MR) engendered by SAM is characteristically posteriorly directed (see later) Hypertrophic Cardiomyopathy A 234 Echocardiography for Diseases of the Myocardium IV A D C B I aVR V1 V4 II aVL V2 V5 III aVF V3 V6 FIG 23.6  Multimodality imaging to aid in characterizing apical hypertrophic cardiomyopathy (A) Apical four-chamber view demonstrating apparently normal wall thickness but poor visualization of the apical endocardium (B) Echocardiographic contrast provides definition of the typical “spade shaped” appearance of the left ventricle and apical wall thickening (C) Cardiac magnetic resonance four-chamber image diagnostic of apical variant hypertrophic cardiomyopathy (HCM), demonstrating mid to apical segmental hypertrophy not readily apparent by standard echocardiography (D) Marked precordial T-wave inversion on electrocardiogram are often associated with apical variant HCM LA, Left atrium; LV, left ventricle; RA, right atrium; RV, right ventricle I, II, III, aVR, aVL, V1-V6; Standard 12-lead ECG leads A D B E C F FIG 23.7  Apical aneurysm formation in hypertrophic cardiomyopathy Apical images illustrating a large left ventricle apical aneurysm (A–C) Apical four-, two-, and three-chamber views demonstrating the apical aneurysm (D–F) Apical three-chamber view with color Doppler flow showing flow during early diastole, end diastole, and midsystole 235 In most cases of HCM, LV ejection fraction is normal or hyperdynamic However, there is a subset of patients with severe hypertrophy and restrictive physiology, in which LV end-diastolic volumes become reduced, TABLE 23.2  Modified Criteria to Diagnose Hypertrophic Cardiomyopathy in Adult Members of Affected Families Echocardiography MAJOR CRITERIA Maximal LV wall thickness ≥13 mm MINOR CRITERIA Anterior septum or posterior wall ≥12 mm Posterior septum or free wall ≥14 mm SAM Redundant MV leaflets Electrocardiography Voltage criteria for LVH Pathologic Q waves Complete BBB or (minor) interventricular conduction defect (in LV leads) T wave inversion • Leads I and aVL (≥3 mm) • V3–V6 (≥3 mm), or • II, III, aVF (≥5 mm) ST segment deviation >1 mm A diagnosis of HCM is suggested in the presence of one major criterion; two minor echocardiographic criteria or one minor echocardiographic and two minor electrocardiographic criteria BBB, Bundle branch block; HCM, hypertrophic cardiomyopathy; LV, left ventricular; LVH, left ventricular hypertrophy; MV, mitral valve; SAM, systolic anterior motion of the mitral valve Adapted from Michels M, Soliman OI, Phefferkorn J, et al Disease penetrance and risk stratification for sudden cardiac death in asymptomatic hypertrophic cardiomyopathy mutation carriers Eur Heart J 2009;30(21):2593–2598 thereby compromising stroke volume despite vigorous LV ejection fraction Approximately 2%–5% of HCM patients progress to end stage or 23 “burnt out” HCM; about 50% of those affected presenting early, in the first four decades of life.19 This rare complication of HCM is characterized by a progression from a hypertrophied, nondilated, and hyperdynamic LV to a ventricle with systolic dysfunction (LV ejection fraction