Clinical Echocardiography and Other Imaging Techniques in Cardiomyopathies
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1 Clinical Echocardiography and Other Imaging Techniques in Cardiomyopathies
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3 Bruno Pinamonti Gianfranco Sinagra Editors Clinical Echocardiography and Other Imaging Techniques in Cardiomyopathies
4 Editors Bruno Pinamonti, MD Cattinara University Hospital Trieste Italy Gianfranco Sinagra, MD, FESC Cattinara University Hospital Trieste Italy ISBN ISBN (ebook) DOI / Springer Cham Heidelberg New York Dordrecht London Library of Congress Control Number: Springer International Publishing Switzerland 2014 This work is subject to copyright. All rights are reserved by the Publisher, whether the whole or part of the material is concerned, specifically the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on microfilms or in any other physical way, and transmission or information storage and retrieval, electronic adaptation, computer software, or by similar or dissimilar methodology now known or hereafter developed. Exempted from this legal reservation are brief excerpts in connection with reviews or scholarly analysis or material supplied specifically for the purpose of being entered and executed on a computer system, for exclusive use by the purchaser of the work. Duplication of this publication or parts thereof is permitted only under the provisions of the Copyright Law of the Publisher's location, in its current version, and permission for use must always be obtained from Springer. Permissions for use may be obtained through RightsLink at the Copyright Clearance Center. Violations are liable to prosecution under the respective Copyright Law. The use of general descriptive names, registered names, trademarks, service marks, etc. in this publication does not imply, even in the absence of a specific statement, that such names are exempt from the relevant protective laws and regulations and therefore free for general use. While the advice and information in this book are believed to be true and accurate at the date of publication, neither the authors nor the editors nor the publisher can accept any legal responsibility for any errors or omissions that may be made. The publisher makes no warranty, express or implied, with respect to the material contained herein. Printed on acid-free paper Springer is part of Springer Science+Business Media (
5 Foreword Thirty years ago cardiomyopathies were defined and classified as heart muscle diseases of unknown etiology. In the following years, great progress has been achieved in the knowledge of such diseases, considered as a true challenge of complexity, with many disciplines called for the understanding of aetiology, pathogenesis, diagnosis and treatment. The integration of clinical cardiology with basic research, the interaction between various medical disciplines, the national and international cooperation as well as a systematic, rigorous collection of data through long-term registries are the main factors that have contributed to this ongoing progress. In the past, our understanding of these disorders was mainly based on the correlation of clinical findings with postmortem anatomy and long-term follow-up. The irruption and constant development of new technologies have radically changed the general knowledge and our diagnostic and therapeutic approach to patients. This was initially based on electrocardiography, on traditional radiology and later on cardiac catheterization and cardioangiography, an important tool which allows to obtain good morphologic and functional definition. However, the invasiveness of this technique carried some procedural risks for the patients. In the following decades, two-dimensional and Doppler echocardiography became the most important imaging tools for the study of cardiomyopathies, with progressive improvements, such as three-dimensional, contrast and stress echocardiography, which allow a more detailed and dynamic evaluation of myocardial structure and function. Nowadays, echocardiography has a central role in the definition of the phenotype, in the assessment of diffuse and localized abnormalities and of pathophysiology underlying these conditions. In some cases it is the most important clue to diagnosis, as in right ventricular cardiomyopathy, in infiltrative diseases of the myocardium or in left ventricular non-compaction. Echocardiography should always be interpreted in the clinical context and integrated with other clinical findings. In the recent years, cardiac magnetic resonance improved our general understanding and diagnostic assessment of these conditions. When echocardiography is limited in providing an exact diagnosis, cardiac magnetic resonance may have a pivotal role in contributing a detailed assessment and answering many clinical questions. Moreover, by analyzing the late gadolinium enhancement sequences it is possible to identify the pattern of distribution of myocardial fibrosis (that may be helpful in differentiating between ischemic and non-ischemic etiopathogenesis), while T1- and T2-weighted pulse sequences are useful in detecting edema, abnormal fat or amyloid. v
6 vi Foreword Other imaging techniques, such as X-ray computed tomography (CT), positron emission tomography (PET), and single photon emission tomography (SPECT) are less used, but their role may be important in certain situations. The great amount of data published in recent years about cardiomyopathies, as well as cardiac imaging and its role in diagnosis, prognosis and therapeutic management, have been critically analyzed by the authors of this book, a group historically involved in the study of heart muscle diseases. The authors underscore the importance of a multidisciplinary approach and the need of an imaging interpretation deeply integrated with the clinical information and context. I am convinced that this book will support clinical cardiologists in a rational use of cardiac imaging and help them in gaining a more comprehensive approach in the diagnosis and treatment of these complex conditions. Trieste, Italy Fulvio Camerini, MD, EFESC
7 Preface This book was designed by the Editors as a thorough up-to-date review of the role of imaging in cardiomyopathies, based on the existing literature and on the authors working experience in the tertiary referral center on cardiomyopathies of the University Hospital of Trieste, Italy. Particular attention was given to the clinical significance of echocardiographic findings, as well as those derived from other imaging modalities, in the different groups of cardiomyopathies. Diagnostic, prognostic, and possible therapeutic implications of imaging data are considered. Clinically important information achieved by both basic and advanced echocardiography (e.g. three-dimensional and speckle-tracking echocardiography) are examined. Additionally, the role of magnetic resonance imaging and other radiological and radionuclide cardiac imaging modalities was described. Relevant data obtained from the published literature and from the authors experience were presented in a critical way in order to provide the clinician and the imaging cardiologist with valuable support in the appropriate use of imaging techniques for the optimal management of patients affected by cardiomyopathies. Considering that the main focus of the book is imaging, a significant section was dedicated to imaging examples of typical cases of cardiomyopathies, mainly studied by the authors. Furthermore, echocardiographic video loops of various cases of cardiomyopathies are available online and are extremely useful to fully appreciate the impact of imaging in clinical practice. The experience of the authors, who come from the same institution (i.e. the Cardiovascular Department of the University Hospital of Trieste, Italy), derives from a 30-year-long work started by the foundation of the Registry of Cardiomyopathies by Prof. Fulvio Camerini. Finally, it is important to remind that, since the initial distinction of the three main groups of cardiomyopathies, significant advances have been made toward a better characterization of distinct subgroups. Nevertheless, areas of overlap in the diagnosis still persist and difficulties in the differential diagnosis are faced in the daily clinical practice. The authors hope is that the present book could collect the knowledge of two fields of cardiology, i.e. cardiomyopathies and cardiac imaging, in a clinically meaningful manner. Trieste, Italy Bruno Pinamonti, MD Gianfranco Sinagra, MD, FESC vii
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9 Contents Part I Cardiomyopathies 1 Definition, Classification, Epidemiology, and Clinical Relevance of Cardiomyopathies Marco Merlo, Anita Spezzacatene, Francesca Brun, Andrea Di Lenarda, Rossana Bussani, Gianfranco Sinagra, and Fulvio Camerini 2 Genetics: Genotype/Phenotype Correlations in Cardiomyopathies Francesca Brun, Concetta Di Nora, Michele Moretti, Anita Spezzacatene, Luisa Mestroni, and Fulvio Camerini 3 Role of Basic and Advanced Imaging in Cardiomyopathies Elena Abate, Bruno Pinamonti, Laura Massa, Giancarlo Vitrella, Giorgio Faganello, Manuel Belgrano, and Lorenzo Pagnan Part II Dilated Cardiomyopathy 4 Dilated Cardiomyopathy: Clinical Assessment and Differential Diagnosis Marco Merlo, Anita Spezzacatene, Davide Stolfo, Francesca Brun, and Gianfranco Sinagra 5 Basic Echocardiography in Dilated Cardiomyopathy Elena Abate, Bruno Pinamonti, and Andrea Porto 6 Advanced Echocardiographic Technologies in Dilated Cardiomyopathy Elena Abate and Bruno Pinamonti 7 Other Imaging Techniques in Dilated Cardiomyopathy Giancarlo Vitrella, Marco Bobbo, Manuel Belgrano, Andrea Perkan, and Giorgio Faganello ix
10 x Contents 8 Dilated Cardiomyopathy: Usefulness of Imaging in Prognostic Stratification and Choice of Treatment Marco Merlo, Francesco Negri, Davide Stolfo, Anita Iorio, Bruno Pinamonti, Massimo Zecchin, Laura Vitali Serdoz, and Andrea Di Lenarda Part III Hypertrophic Cardiomyopathy 9 Hypertrophic Cardiomyopathy: Clinical Assessment and Differential Diagnosis Marco Merlo, Andrea Cocciolo, Francesca Brun, and Gianfranco Sinagra 10 Basic Echocardiography in Hypertrophic Cardiomyopathy Gherardo Finocchiaro, Bruno Pinamonti, and Elena Abate 11 Advanced Echocardiographic Technologies in Hypertrophic Cardiomyopathy Gherardo Finocchiaro, Elena Abate, and Bruno Pinamonti 12 Other Imaging Techniques in Hypertrophic Cardiomyopathy Gherardo Finocchiaro, Giancarlo Vitrella, and Bruno Pinamonti 13 Hypertrophic Cardiomyopathy: Usefulness of Imaging in Prognostic Stratification and Choice of Treatment Gherardo Finocchiaro, Bruno Pinamonti, Elena Abate, Marco Merlo, and Giancarlo Vitrella Part IV Arrhythmogenic Right Ventricular Cardiomyopathy 14 Arrhythmogenic Right Ventricular Cardiomyopathy: Clinical Assessment and Differential Diagnosis Francesca Brun, Concetta Di Nora, Marco Merlo, Alberto Pivetta, Luisa Mestroni, and Gianfranco Sinagra 15 Basic Echocardiography in Arrhythmogenic Right Ventricular Cardiomyopathy Andreea M. Dragos, Bruno Pinamonti, and Elena Abate 16 Advanced Echocardiographic Techniques in Arrhythmogenic Right Ventricular Cardiomyopathy Andreea M. Dragos, Elena Abate, and Bruno Pinamonti 17 Other Imaging Modalities in the Assessment of Arrhythmogenic Right Ventricular Cardiomyopathy Giancarlo Vitrella, Lorenzo Pagnan, and Andrea Perkan
11 Contents xi 18 Arrhythmogenic Right Ventricular Cardiomyopathy: Usefulness of Imaging in Prognostic Stratification and Choice of Treatment Francesca Brun, Concetta Di Nora, Massimo Zecchin, Bruno Pinamonti, and Gianfranco Sinagra Part V Restrictive, Infiltrative/Storage and Other Cardiomyopathies 19 Restrictive Cardiomyopathy: Clinical Assessment and Imaging in Diagnosis and Patient Management Marco Merlo, Elena Abate, Bruno Pinamonti, Giancarlo Vitrella, Enrico Fabris, Francesco Negri, Francesca Brun, Manuel Belgrano, Rossana Bussani, and Gianfranco Sinagra 20 Infiltrative/Storage Cardiomyopathies: Clinical Assessment and Imaging in Diagnosis and Patient Management Michele Moretti, Enrico Fabris, Gherardo Finocchiaro, Bruno Pinamonti, Elena Abate, Giancarlo Vitrella, Marco Merlo, Francesca Brun, Lorenzo Pagnan, and Gianfranco Sinagra 21 Other Cardiomyopathies: Clinical Assessment and Imaging in Diagnosis and Patient Management Marco Merlo, Davide Stolfo, Giancarlo Vitrella, Elena Abate, Bruno Pinamonti, Francesco Negri, Anita Spezzacatene, Marco Anzini, Enrico Fabris, Francesca Brun, Lorenzo Pagnan, Manuel Belgrano, Giorgio Faganello, and Gianfranco Sinagra
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13 Abbreviations 2D 3D AF ARVC BSA CA CMP CMR CP CRT CT CW DCM ECG EF EMB EMF FAC HCM HF ICD IVS LA LBBB LDAC LGE LV LVNC LVRR MIBG MR MV NYHA OT Two-dimensional Three-dimensional Atrial fibrillation Arrhythmogenic right ventricular cardiomyopathy Body surface area Cardiac amyloidosis Cardiomyopathy Cardiac magnetic resonance Constrictive pericarditis Cardiac resynchronization therapy Computed tomography Continuous wave Dilated cardiomyopathy Electrocardiography Ejection fraction Endomyocardial biopsy Endomyocardial fibrosis Fractional area change Hypertrophic cardiomyopathy Heart failure Implantable cardioverter defibrillator Interventricular septum Left atrium Left bundle branch block Left-dominant arrhythmogenic cardiomyopathy Late gadolinium enhancement Left ventricle Left ventricular non-compaction Left ventricular reverse remodeling Metaiodobenzylguanidine Mitral regurgitation Mitral valve New York Heart Association Outflow tract xiii
14 xiv Abbreviations PCWP PET PISA PW RCM RFP RV SAM SD SPECT SSFP TAPSE TDI TEE TIC TR TTE VT WMA Pulmonary capillary wedge pressure Positron emission tomography Proximal isovelocity surface area Pulsed wave Restrictive cardiomyopathy Restrictive filling pattern Right ventricle Systolic anterior motion Sudden death Single photon emission computed tomography Steady state free precession Tricuspid annular proximal systolic excursion Tissue Doppler imaging Trans-esophageal echocardiography Tachycardia-induced cardiomyopathy Tricuspid regurgitation Trans-thoracic echocardiography Ventricular tachycardia Wall motion abnormalities
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