[Importance of the genetic aspect in hypertrophic cardiomyopathy]

Abstract Hypertrophic cardiomyopathy is a disease characterised by massive ventricular hypertrophy, reduced diastolic function and excessive ventricular contraction. It involves sections of both ventricles, but in particular the left ventricle. Although it was initially thought that this pathology might depend on a modified systolic function, it is now widely held that the main alteration is of a diastolic type. The paper focuses on the importance of the genetic component in this cardiopathy, and stresses that the majority of patients affected by this disease and examined by the Authors had positive family histories, in line with previously published reports. In the majority of cases the pathology is transmitted in a dominant autosomic manner, although there are also sporadic episodes of non-hereditary transmission due to genetic mutation.