New Paradigms in Hypertrophic Cardiomyopathy: Insights from Genetics.

ABSTRACT: Understanding the genetic basis of hypertrophic cardiomyopathy (HCM) provides a remarkable opportunity to predict and prevent disease. HCM is caused by mutations in sarcomere genes and is the most common monogenic cardiovascular disorder. Although unexplained left ventricular hypertrophy (LVH) is considered diagnostic, LVH is not always present. LV wall thickness is often normal until adolescence or later, even in individuals known to carry pathogenic sarcomere mutations. In contrast, genetic testing can identify both individuals who carry pathogenic sarcomere mutations and have a clinical diagnosis of HCM, as well as mutation carriers who have not yet manifest LVH but are at very likely to develop disease. Studying this important new patient subset, designated early or preclinical HCM, al

SUBMITTER: Ho CY 

PROVIDER: S-EPMC3115723 | biostudies-literature | 2011 May

REPOSITORIES: biostudies-literature