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CARDIOMYOPATHIES – FROM BASIC RESEARCH TO CLINICAL MANAGEMENT

CARDIOMYOPATHIES
Edited by Josef Veselka ,
814 pages . 

Cardiomyopathy means “heart (cardio) muscle (myo) disease (pathy)”. Currently,
cardiomyopathies are defined as myocardial disorders in which the heart muscle is 
structurally and/or functionally abnormal in the absence of coronary artery disease, 
hypertension, valvular heart disease or congenital heart disease sufficient to cause the 
observed myocardial abnormalities. Usually, cardiomyopathies are classified into three 
major groups: dilated, hypertrophic and restrictive. However, this book also deals with 
some specific issues of Takotsubo cardiomyopathy, Chagas’ heart disease and the heart 
dysfunctions that accompany some metabolic diseases. The unique feature of this book is 
that it incorporates chapters covering both basic research and clinical management.
Dilated cardiomyopathy is characterized by left ventricular dilation and systolic 
dysfunction. It is probably the most common form of heart muscle disease, comprising 
approximately 60% of all cardiomyopathies identified. The underlying aetiologies are 
viral infection, cardiac toxins (including alcohol), metabolic disorders and genetic 
causes, which might represent 30%-40% of all causes of dilated cardiomyopathies. The 
disorder is clinically very heterogeneous and some affected individuals suffer from 
progressive left ventricular dysfunction with clinical signs of heart failure and 
malignant arrhythmias. Although many causative genes of dilated cardiomyopathy 
have been identified, there is still a lack of data regarding correct genotype-phenotype 
interpretations. Therefore, determining the prognosis of each patient with familial 
dilated  cardiomyopathy is still an important goal for the future. Moreover, therapeutic 
approaches better than just the symptomatic relief of heart failure or the implantation 
of a cardioverter-defibrillator are badly needed.
Hypertrophic cardiomyopathy is probably the most common inherited cardiac disorder, 
with an estimated prevalence of 1 in 500 individuals. The clinical course varies 
significantly. Some patients remain asymptomatic throughout their whole lives, whereas 
some have severe symptoms of heart failure or angina pectoris; others die suddenly, 
even in the absence of previous symptoms. The annual mortality rate varies in different 
studies and it has been reported to be about 1% in unselected populations. Also, in the 
field of hypertrophic cardiomyopathy, advances in genetics have enabled genetic-based 
diagnoses. However, similar to dilated cardiomyopathy, there is an absence of studies 
resulting in the knowledge of reliable genotype-phenotype correlations. Moreover, 
although costs of sequencing and mutational analyses have decreased considerably, the 
price of testing remains in the thousands of Euros (dollars). In addition, discovering the 
genetic heterogeneity and the number of so far unidentified causative genes and 
“private” mutations remain a persistent challenge. On the other hand, there have been 
important developments in the field of prevention of sudden cardiac death with the 
introduction of risk stratification and subsequent defibrillator implantation. Similar to 
dilated cardiomyopathy, we can expect further improvements in genetic testing that 
should mainly focus on “healthy” genetic carriers.
Restrictive cardiomyopathy is the least common type of cardiomyopathy, which is
characterized not by morphological criteria but by increased myocardial stiffness leading
to high ventricular filling pressures. Restrictive haemodynamics was described in many
conditions, but the archetype and most common of these diseases is cardiac amyloidosis.
Unfortunately, symptomatic cardiac amyloidosis is associated with an unfavourable
prognosis and attention should next be focused on the earliest establishment of its
diagnosis. This seems to be the only way of improving the prognosis of these patients.
Readers of this book will also find several chapters that specifically deal with
Takotsubo cardiomyopathy. Interestingly, although almost two decades have passed
since the introduction of this diagnosis, the rich literature on this confusing syndrome
has contained little that definitively clarifies the fundamental aspects of this type of
cardiomyopathy. It seems that improving our understanding of the pathophysiologic
mechanisms of Takotsubo cardiomyopathy in the future is essential, as it could result
in its better prevention and treatment.
Very interesting chapters review Chagas’ heart disease. It is estimated that
approximately 10 million patients suffer from this disease, which is still the third
largest parasitic burden globally, after malaria and schistosomiasis. Although Chagas’
heart disease occurs mainly in South America, there is an increasing number of
patients being diagnosed in non-endemic areas worldwide, and this disease has
become a global public health issue.
Although significant advances have been made in most fields dealing with the
understanding and therapy of cardiomyopathies, much work still remains to be done.
Generally, research efforts will be focused more on genetic and pathophysiological
principles of cardiomyopathies in order to prevent the development of the phenotype
and major adverse clinical events.
It was impossible to meet all our goals or cover all the problems found regarding
cardiomyopathies in this book. However, we believe that this book will be able to
provide both researchers and clinicians alike with modern information that will aid in
their work.

Josef Veselka, MD, PhD
Professor of Medicine, Head of Department of Cardiology,
2nd Faculty of Medicine, Charles University, University Hospital Motol, Prague,
Czech Republic

CONTENTS :

Part 1 Classification, Evaluation and Management of Cardiomyopathies 1


Chapter 1 Classification and Definitions of Cardiomyopathies 3
Bhulan Kumar Singh, Krishna Kolappa Pillai, Kanchan Kohli and Syed Ehtaishamul Haque

Chapter 2 Management of Hypertrophic 
Obstructive Cardiomyopathy with a Focus on Alcohol Septal Ablation 21
Josef Veselka

Chapter 3 Hypertrophic Cardiomyopathy 
in Infants and Children 33
Luis E. Alday and Eduardo Moreyra

Chapter 4 Quality of Life in Dilated Cardiomyopathy 
with Refractory Chronic Heart Failure Undergoing Devices Implantation 69
Elisabete Nave Leal, José Luís Pais Ribeiro and Mário Martins Oliveira

Chapter 5 Peripartum Cardiomyopathy: 
A Systematic Review 83
Viviana Aursulesei and Mihai Dan Datcu

Chapter 6 Cardiomyopathy Detection from Electrocardiogram Features 117
Mirela Ovreiu and Dan Simon

Chapter 7 Prevention of Sudden Cardiac 
Death in Patients with Cardiomyopathy 135
M. Obadah Al Chekakie
Chapter 8 Biomarker for Cardiomyopathy-B-Type Natriuretic Peptide 167
Mototsugu Nishii and Tohru Izumi

Part 2 Pathophysiology and Genetics of Cardiomyopathies 183


Chapter 9 Heart Muscle and Apoptosis 185
Angelos Tsipis

Chapter 10 Cardiac Myocytes and Mechanosensation 201
Byambajav Buyandelger and Ralph Knöll

Chapter 11 Dobutamine-Induced Mechanical Alternans 213
Akihiro Hirashiki and Toyoaki Murohara

Chapter 12 MicroRNAs Telltale Effects on 
Signaling Networks in Cardiomyopathy 223
Manveen K. Gupta, Zhong-Hui Duan, Sadashiva S. Karnik and Sathyamangla V. Naga Prasad

Chapter 13 Intercellular Connections in 
the Heart: The Intercalated Disc 245
Maegen A. Ackermann, Li-Yen R. Hu and Aikaterini Kontrogianni-Konstantopoulos

Chapter 14 Familial Hypertrophic Cardiomyopathy-Related 
Troponin Mutations and Sudden Cardiac Death 277
Laura Dewar, Bo Liang, Yueh Li, Shubhayan Sanatani and Glen F. Tibbits

Chapter 15 Consequences of Mutations in Genes Encoding Cardiac Troponin C, T and I – Molecular Insights 303
Kornelia Jaquet and Andreas Mügge

Chapter 16 Cardiomyopathies Associated with Myofibrillar Myopathies 353
Lilienbaum Alain and Vernengo Luis

Chapter 17 Functional Consequences of 
Mutations in the Myosin Regulatory Light Chain Associated with Hypertrophic Cardiomyopathy 383
Priya Muthu, Wenrui Huang, Katarzyna Kazmierczak and Danuta Szczesna-Cordary

Chapter 18 Role of Genetic Factors 
in Dilated Cardiomyopathy 409
Cieslewicz Artur and Jablecka Anna

Part 3 Cardiomyopathies and Imaging Methods 423


Chapter 19 Role of Advanced Cardiac Magnetic Resonance 
Imaging in Atypical Cardiomyopathies such as Stress-Induced Cardiomyopathie and Left-Ventricular Non-Compaction Cardiomyopathy 425
Oliver Strohm, Abdullah Shehab and Anwer Qureshi

Chapter 20 The Use of Contrast-Enhancement Cardiovascular 
Magnetic Resonance Imaging in Cardiomyopathies 439
Marlon A.G.M. Olimulder, Michel A. Galjee, Jan van Es, Lodewijk J. Wagenaar and Clemens von Birgelen

Part 4 Metabolic and Drug-Induced Cardiomyopathies 461


Chapter 21 The Evolving Face of Heart Failure 
Associated with Elevated Cardio-Metabolic Risk Factors 463
Chaitanya Dutt, Vijay Chauthaiwale, Anookh Mohanan, KumarPrafull Chandra, Shitalkumar Zambad, Ram Gupta and Siralee Parikh

Chapter 22 Diabetic Cardiomyopathy: Cardiac Changes, 
Pathophysiological Mechanisms, Biologic Markers, and the Available Therapeutic Armamentarium 487
Michael F. Hill

Chapter 23 Insulin Resistance and Cardiomyopathy 513
Jiung-Pang Huang and Li-Man Hung

Chapter 24 Taurine Depletion-Related 
Cardiomyopathy in Animals 537
Takashi Ito and Junichi Azuma

Chapter 25 Thyrotoxic Cardiomyopathy 553 
Alina Yu. Babenko, Alekber A. Bairamov, Elena N. Grineva and Eugenia O. Ulupova

Chapter 26 Drug-Induced Cardiomyopathies 581
Jan Klimas

Chapter 27 Anthracycline Cardiotoxicity 621
Giuseppe Visani, Alessandro Isidori and Giorgio Minotti

Chapter 28 Cardiotonic Steroids and Cardiac Fibrosis 645
Sandeep Vetteth, Deepak Malhotra and Joseph I. Shapiro

Part 5 Takotsubo Cardiomyopathy 663


Chapter 29 Stress-Induced Cardiomyopathy: Clinical Observations 665
Jun-Won Lee, Hyun-Kyo Lim, Jang-Young Kim and Sungwoo Ryoo

Chapter 30 Takotsubo Cardiomyopathy 683
Abdul Moiz Hafiz, M. Fuad Jan, Timothy E. Paterick, Suhail Allaqaband and A. Jamil Tajik

Chapter 31 Pathology of Takotsubo (Ampulla) Cardiomyopathy 709
Sachio Kawai

Chapter 32 Torsades de Pointes in 
Takotsubo Cardiomyopathy with QT Prolongation 727
Hiroaki Kawano

Chapter 33 Torsades de Pointes Associated with 
Takotsubo Cardiomyopathy: Is It Preventable? 737
Dan Justo, Arie Steinvil and Itzhak Shapira

Part 6 Chagas Heart Disease 747


Chapter 34 Chagas Heart Disease 749
Clara Isabel González and Julio César Mantilla

Chapter 35 Chagasic Cardiomyopathy 775
Fernando Rosas, Nubia Roa, Zulma M. Cucunubá, Adriana Cuéllar, John Mario Gonzalez and Concepción J. Puerta .




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