DILATED CARDIOMYOPATHY AND ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA: FROM GENE TO PHENOTYPE

摘要

Dilated cardiomyopathy (DC) is characterized by dilatation and impaired contraction of the left or both ventricles. In the last few decades, it has been one of the most largely investigated heart diseases. Nevertheless, by now, its etiology still represents a challenge and the diagnosis is mainly based on the exclusion of any specific heart muscle disease, i.e. any disease associated with known cardiac or systemic disorder. Due to the scarce knowledge, the classification of the ethiologic factors is still tentative . In the past, the presence of a familial aggregation of the disease was reported but certainly underestimated. In fact, in that studies the frequency of familiarity was less than 10%.With the growing interest for this problem and the evolution of molecular genetic techniques, prospective and finalized studies have been performed, demonstrating that genetic factors play a major role in the pathogenesis of the disease. The occurrence of a genetic transmission (familial DC or FDC) in controlled studies is detectable in about one third of patients with DC.