Congenital Heart Disease: Many Genes Lead to a Broken Heart

Air date: Wednesday, February 12, 2014, 3:00:00 PM

Runtime: 00:58:55

Description: Wednesday Afternoon Lecture

The ultimate opportunity presented by discovering the genetic basis of human disease is accurate prediction and disease prevention. But such an achievement is possible only if genetic insights enable the identification of at-risk individuals long before symptoms appear and the development of novel therapies to delay or prevent clinical expression of diseases. Genetic cardiomyopathies provide a paradigm for fulfilling these opportunities. Hypertrophic cardiomyopathy (HCM) is characterized by left ventricular hypertrophy, diastolic dysfunction with normal or enhanced systolic performance, and a unique histopathology: myocyte hypertrophy, disarray, and fibrosis. Dilated cardiomyopathy (DCM) exhibits enlarged ventricular volumes with depressed systolic performance and nonspecific histopathology. Both HCM and DCM increase the risk for arrhythmias, heart failure, and sudden death. Human molecular genetic studies demonstrated that these unique pathologies result from dominant mutations in genes that encode protein components of the sarcomere, the contractile unit in striated muscles. Ascertaining the spectrum of variation in sarcomere protein genes in concert with biophysical studies and transcriptional analyses provide insights into the molecular mechanisms of HCM and DCM and may even suggest novel therapeutic targets. This presentation will discuss how HCM and DCM mutations can expand the fundamental knowledge of sarcomere biology, inform clinical diagnosis and patient care, and provide new strategies to delay the clinical emergence of cardiomyopathy from sarcomere gene mutations.

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Author: Christine Seidman, M.D., Thomas W. Smith Professor of Medicine, Harvard Medical School; Genetics Director, Brigham & Women's Cardiovascular Genetics Center; Investigator, Howard Hughes Medical Institute

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