[Classification, genetic predisposition and risk factors for the development of cardiomyopathies]

Abstract

Cardiomyopathies are an important and diverse group of heart muscle diseases in which the heart muscle itself is structural or functional abnormal. This often results in severe heart failure accompanied by arrhythmias and/or sudden death. Clinical and morphological diversity of cardiomyopathies can reflect the broad spectrum of distinct underlying molecular causes or genetic heterogeneity. In addition, modifying genes, life style and additional factors were reported to influence onset of disease, disease progression and prognosis. The individual patient's phenotype may reflect a summation and/or interaction of the underlying mutation with other genetic or environmental factors. During the last years major advances have been made in the understanding of the molecular and genetic basis of this type of disease. Nevertheless, much more progress in the identification of underlying mutations, susceptibility genes and modifier genes is important and indispensable for the development of new etiology orientated forms of therapy.