Meet the editors

Gustav Mattsson, MD, graduated from Uppsala University, Sweden, and is currently working in internal medicine at Gävle Hospital, Sweden. He is active in research at the Centre for Research and Development, Gävleborg, Uppsala University, and has a strong interest in research and scientific writing in the field of cardiology. He is an author of thirty peer-reviewed articles, twenty-four articles with an editorial review, six book chapters,

and ten scientific posters. His research interests include cardiomyopathies, arrhythmia, and device therapy.

Dr. Peter Magnusson earned his MD from Lund University, Sweden, and his Ph.D. from the Karolinska Institute, Sweden. He is currently working as a senior consultant at Gävle Hospital, Sweden. His clinical work mainly involves the management of patients with cardiac arrhythmias, heart failure, cardiomyopathies, and implantable cardiac devices. His research overlaps with these clinical areas but also covers broad aspects of medicine and

innovation. Dr. Magnusson is a renowned speaker and leader of educational activities for diverse groups of professionals.

Contents

**Section 1**

*and Peter Magnusson*

*and Takaaki Senbonmatsu*

*by Ronald Zolty*

**Section 2**

An Overview of the Cardiomyopathies

Cardiomyopathy: Recent Findings

*by Ida Kåks, Marianna Leopoulou, Gustav Mattsson* 

*by Yoshihiro Yamada, Keiki Sugi, Hiroyuki Nakajima* 

*Yousef Kian, Nir Peled and Alexander Yakobson*

and Oxydative Stress in Cardiomyopathy

Genetics of Cardiomyopathy

*by Luis Vernengo and Haluk Topaloglu*

Cardiomyopathy Etiologies, Symptoms and Management *by Waleed Kian, Melanie Zemel, Emily H. Kestenbaum, Wafeek Alguayn, Boris Shvarts, Adam A. Sharb, Dina Levitas,* 

The Role of Neurohormonal Systems, Inflammatory Mediators

*by Evan M. Harvey, Murad Almasri and Hugo R. Martinez*

The Z-Disk Final Common Pathway in Cardiomyopathies

The Role of Genetics in Cardiomyopaties: A Review

*by Enkhsaikhan Purevjav and Jeffrey A. Towbin*

**Preface V**

Overview **1**

**Chapter 1 3**

**Chapter 2 23**

**Chapter 3 49**

**Chapter 4 63**

Genetics **101**

**Chapter 5 103**

**Chapter 6 139**

**Chapter 7 173**

## Contents



**III**

**Section 6**

Cardiac Amyloidosis

Reversible Cardiomyopathies

Ischemic Heart Disease

**Section 7**

*by Shingo Sasaki*

*Anthony Kang and Timothy J. Vittorio*

Right Ventricular Cardiomyopathy

Miscellaneous Cardiomyopathies **367**

**Chapter 17 369**

**Chapter 18 387**

**Chapter 19 413**

**Chapter 20 437**

Treatment and Future Perspectives **453**

**Chapter 21 455**

**Chapter 22 473**

*by Csilla Andrea Eötvös, Giorgia Pastiu, Iulia Zehan, Cerasela Goidescu, Roxana Chiorescu, Roxana Lazar, Florina Frîngu, Raluca Tomoaia,* 

Myocarditis and Inflammatory Cardiomyopathy

*Monica Pop, Adrian Molnar, Sorin Pop and Dan Blendea*

*by Niel Shah, Miguel Rodriguez-Guerra, Muhammad Saad,* 

*by Saraí López De Lucio and Marco Antonio López Hernández*

Gene Therapy for Heart Disease: Modified mRNA Perspectives

Possibility of the Subcutaneous Implantable Cardioverter-Defibrillator for Prevention of Sudden Cardiac Death in Patients with Arrhythmogenic

*by Lior Zangi, Ravinder K. Kaundal and Keerat Kaur*

*by Emanuele Bobbio and Kristjan Karason*


Preface

Heart failure places a considerable burden on both patients and healthcare systems. It causes increased morbidity and mortality and is a risk factor for arrhythmia and sudden cardiac death. Heart failure is commonly caused by ischemic heart disease, abnormal loading, or cardiomyopathies. Cardiomyopathies are diseases of the heart muscle with diverse etiologies ranging from myocarditis to gene mutations. Definitions of cardiomyopathies differ over time and between clinical traditions. While in the future cardiomyopathies might be classified after causative mutations, they have traditionally been classified by phenotype and cardiac morphology. This system of classification has the advantage that the phenotype is most often known prior to the genotype. Originally, cardiomyopathies were considered distinct primary myocardial disorders of unknown etiology, whereas heart muscle disorders of known etiology or caused by systemic disease were classified as secondary or specific heart muscle disease. In 2006, the American Heart Association proposed a classification that defined cardiomyopathies as either primary or secondary, referring either to a disease where the heart is the sole or primarily affected organ or where myocardial involvement is part of a systemic disease. In 2008, the European Society of Cardiology proposed an alternate classification in which cardiomyopathy is defined as "a myocardial disorder in which the heart muscle is structurally and functionally abnormal in the absence of coronary artery disease, hypertension, valvular disease, and congenital heart disease sufficient to cause the observed myocardial abnormality." Furthermore, the European Society of Cardiology subdivides cardiomyopathies depending on morphology and function, that is, dilated cardiomyopathy, hypertrophic cardiomyopathy, arrhythmogenic cardiomyopathy, restrictive cardiomyopathy, and unclassified cardiomyopathies (e.g., left-ventricular non-compaction cardiomyopathy). They are then further categorized based on inheritance pattern, distinguishing between familial or genetic forms versus non-familial or non-genetic forms of cardiomyopathy and based on

This book is divided into seven sections. The "Overview" section introduces the topic, and the "Genetics" section provides information on the genetic basis of many of the cardiomyopathies. "Arrhythmogenic Cardiomyopathy," "Hypertrophic Cardiomyopathy," and "Dilated Cardiomyopathy" include chapters sorted by category of cardiomyopathy. The book ends with sections on "Miscellaneous

We wish to thank the chapter authors, all of whom are expert clinicians and researchers in the fields of cardiology, cardiomyopathies, and cardiogenetics.

Centre for Research and Development Region Gävleborg/Uppsala University,

**Gustav Mattsson and Peter Magnusson**

Gävle, Sweden

Cardiomyopathies" and "Treatment and Future Perspectives."

specific etiologies.
