Contents

**Preface XI**


Akihiro Hirashiki and Toyoaki Murohara

#### **X** Contents

#### **Section 3 Genetics 105**

Chapter 7 **The Role of Genetics in Cardiomyopathy 107** Luis Vernengo, Alain Lilienbaum, Onnik Agbulut and Maria-Mirta Rodríguez

Preface

omyopathies in special populations.

right ventricular cardiomyopathy.

and dilated cardiomyopathy.

ventricular function.

tic and therapeutic challenge for the physician.

parently compensatory, ultimately become maladaptive.

More than 50 years ago, in 1957, Bridgen the word "cardiomyopathy" has been used for the first time. One year later, Teare described nine cases of interventricular septal hyper‐ trophy. In this book the broad aspects of cardiomyopathies are fully developed by re‐ nowned specialists. The book is divided in five sections – Cardiomyopathies - general aspects; pathophysiology and molecular mechanisms; genetics; sudden death and cardi‐

The disease of the heart muscle may develop secondarily to other cardiac alterations, such as ischemic, hypertensive, valvular and systemic, among others. However, there is also a group of conditions with intrinsic myocardial involvement of genetic or multifac‐ torial etiology, characterized by high morbidity and mortality that represent a diagnos‐

Cardiomyopathy (primary) is defined as a disease of the myocardium, which results in insufficient pumping of the heart. It is classified into four forms; dilated cardiomyop‐ athy, hypertrophic cardiomyopathy, restrictive cardiomyopathy, and arrhythmogenic

The book is focused on these forms, its features, its pathophysiology, and its relationship to sudden death. Mention is made also on general aspects, like ecocardiographic find‐ ings and myocardial contractile reserve, specific as pathophysiology and molecular mechanisms. Special attention is deserved to cardiomyopathies in special populations, like pediatrics, diabetic patients, and women, as well as to cases of chronic heart failure

Cardiomyopathies are characterized by extensive remodeling of the myocardium mani‐ fested as hypertrophy, due to enlarged myocyte size and interstitial fibrosis. With the progression of the disease, the heart turns to a dilated state, with increase of the intra‐ ventricular volume and a mild increase in ventricular wall thickness. These changes, ap‐

Dilated cardiomyopathy is one of the most common types of cardiomyopathy world‐ wide. It is characterized by progressive chamber dilatation and myocardial systolic dys‐ function and diagnosed by left ventricular enlargement and impaired systolic left

Regarding diagnosis, echocardiography is the most frequently used and readily availa‐ ble cardiac imaging technique. It has been established as the cardiac imaging modality of choice in diagnosis and longitudinal follow up of patients with cardiomyopathy.

