Cardiomyopathies

Cardiomyopathy is an umbrella term for a group of myocardial disorders characterized by a structural and functional abnormality of the heart muscle, which is not secondary to other causes such as hypertension, congenital heart disease, valvar disease, or coronary artery disease. Based on morphological and functional features, cardiomyopathies can be divided into subtypes, including in particular dilated , hypertrophic , and restrictive cardiomyopathy . Noncompaction cardiomyopathy should be mentioned as a rare form of heart muscle disease.

Recent advances in understanding the genetic nature of cardiomyopathies have made it possible to identify causative genetic mutations, especially in patients who are affected by a familial form of the disease. In light of this, echocardiographic screening plays an important role in the detection of affected family members.

Cardiomyopathies in children may manifest very early in life and could cause significant morbidity and mortality. Despite limited options, early detection and appropriate treatment may improve outcomes.

Dilated cardiomyopathy

A characteristic feature of dilated cardiomyopathy (DCM) is the presence of left ventricular systolic dysfunction and dilatation that is not due to other secondary causes. Left ventricular diastolic dysfunction and right ventricular dysfunction or dilatation may also be present but they are not part of the diagnostic criteria. It has become increasingly evident that there is an overlap between viral myocarditis and later progression to dilated cardiomyopathy. Familial genetic forms of DCM appear to account for approximately one-quarter of cases, predominantly with an autosomal dominant pattern.