Science, Vol.272, No.5262, 681-685, 1996
Molecular-Genetic Insights into Cardiovascular-Disease
The recent application of molecular genetic tools to inherited forms of cardiovascular disease has provided important insight into the molecular mechanisms underlying cardiac arrhythmias, cardiomyopathies, and vascular diseases. These studies point to defects in ion channels, contractile proteins, structural proteins, and signaling molecules as key players in disease pathogenesis. Genetic testing is now available for a subset of inherited cardiovascular diseases, and new mechanism-based therapies may be available in the near future. This remarkable progress and the implications it may have for more common forms of cardiovascular disease are reviewed here.
Keywords:FAMILIAL HYPERTROPHIC CARDIOMYOPATHY;IDIOPATHIC DILATED CARDIOMYOPATHY;CARNITINE PALMITOYLTRANSFERASE-II;SUPRAVALVULAR AORTIC-STENOSIS;HEAVY-CHAIN GENE;LONG-QT SYNDROME;MARFAN-SYNDROME;MISSENSE MUTATION;MITOCHONDRIAL-DNA;DEFICIENCY