Hypertrophic Cardiomyopathy: Recent Evidence on Genotype-Phenotype Correlation

Abstract

Hypertrophic cardiomyopathy (HCM), in contrast to common prejudications, has been recognized as the most common genetically determined cardiac disease. It is inherited with an autosomal dominant pattern and many different mutations in numerous genes responsible for the production of sarcomere proteins and other regulatory molecules contributing to the systolic function of cardiac myocyte have been identified. The natural course of the disease is benign in the majority of cases and most patients achieve near-normal life expectancy. Unfavorable prognosis is established mainly on the basis of clinical, morphological and family history data. The genotype contributes undoubtedly to the clinical picture. However, the existing data do not allow for a consistent genotype-phenotype correlation and hence genetic information is not incorporated in modern risk assessment clinical tools. In this brief review we summarize the recent data on the genetic characterization of HCM.