Myocardial Genetics

**39**

**Chapter 4**

**Abstract**

**1. Introduction**

Current Pathophysiological

Cardiomyopathy

*Rolf Vogel and Nisha Arenja*

and Genetic Aspects of Dilated

*Deborah P. Schild, Sascha I. Ricciardi, Jens G. Hellige,* 

pathophysiological aspects and genetic etiology of the disease.

Dilated cardiomyopathy is the most common form of cardiomyopathy and the second leading cause of left ventricular dysfunction with highly variable clinical presentation and prognosis. The clinical courses vary and are strongly heterogeneous, ranging from asymptomatic patients to those suffering from intractable heart failure or sudden cardiac death due to arrhythmias. Previous studies have reported a 10 years cardiovascular mortality up to 40% in developed countries, due to advanced heart failure or sudden cardiac death. However, the prognosis of dilated cardiomyopathy patients is variable and depends on multiple risk factors. This chapter provides a review of dilated cardiomyopathy with specific focus on the

**Keywords:** dilated cardiomyopathy, pathophysiology, etiology, diagnostics, therapy

Dilated cardiomyopathy (DCM) is one of the most common cardiomyopathies causing heart failure (HF) worldwide. Although it is less common than coronary artery disease (CAD), it affects mainly young adults and presents the most frequent reason for cardiac transplantation in young age [1, 2]. According to the European Society of Cardiology (ESC), the current definition of DCM includes the presence of a dilated and poorly functioning left ventricle or of both ventricles [3]. A heterogeneous group of myocardial and systemic conditions may cause left ventricular dilatation in combination with dysfunction. In fact, identifying the etiology of DCM can be very challenging, which often leads to the common terminology of idiopathic dilated cardiomyopathy (IDC). Furthermore, DCM has a highly variable clinical presentation. While signs and symptoms of HF are most common, some patients are incidentally, for instance, by diagnosing cardiomegaly in chest X-ray. Other symptoms include arrhythmias, conduction disturbances, thromboembolic complications, or sudden cardiac death (SCD). In the last decades, major advances have been made in the understanding of molecular and genetic issues, as well as in the pathophysiology and clinical assessment of cardiomyopathies. Especially, understanding the genetic basis of DCM has improved considerably with the availability of genetic analysis. In addition, other important diagnostic approaches, particularly imaging methods are more widely available. This allows early diagnosis
