European Heart Journal - My Cardio Interview: Bernard Gersh & Thomas Luscher on the management of hypertrophic cardiomyopathy

submitted by: OxfordJournals

Bernard Gersh In conversation with Thomas Lüscher
The management of hypertrophic cardiomyopathy: evidence and uncertainties.

The R403Q Myosin Mutation Implicated in Familial Hypertrophic Cardiomyopathy Causes Disorder at the Actomyosin Interface

submitted by: apryl
Background Mutations in virtually all of the proteins comprising the cardiac muscle sarcomere have been implicated in causing Familial Hypertrophic Cardiomyopathy (FHC). Mutations in the β-myosin heavy chain (MHC) remain among the most common causes of FHC, with the widely studied R403Q mutation resulting in an especially severe clinical prognosis. In vitro functional studies of cardiac myosin containing the R403Q mutation have revealed significant changes in enzymatic and...
Authors: Dorit Hanein, Larnele Hazelwood, Susan Lowey, HongJun Lui, Kathleen M. Trybus, Niels Volkmann