Preclinical Diagnosis of Familial Hypertrophic Cardiomyopathy by Genetic Analysis of Blood Lymphocytes

Open Access
Publisher Website
Google Scholar
Abstract
The clinical diagnosis of familial hypertrophic cardiomyopathy is usually made on the basis of the physical examination, electrocardiogram, and echocardiogram. Making an accurate diagnosis can be particularly difficult in children, who may not have cardiac hypertrophy until adulthood. Recently, we demonstrated that mutations in the cardiac myosin heavy-chain genes cause familial hypertrophic cardiomyopathy In some families. We report a diagnostic test for familial hypertrophic cardiomyopathy that relies on the detection of mutations In the β myosin heavy-chain gene in circulating lymphocytes that we used to evaluate three generations of a family, including the children.

This publication has 50 references indexed in Scilit: