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Genes 2014, 5(1), 214-234; doi:10.3390/genes5010214

Genetic Profiling for Risk Reduction in Human Cardiovascular Disease

Department of Medicine, University of Chicago, Chicago, IL 60637, USA
Department of Human Genetics, University of Chicago, Chicago, IL 60637, USA
Author to whom correspondence should be addressed.
Received: 16 January 2014 / Revised: 26 February 2014 / Accepted: 27 February 2014 / Published: 12 March 2014
(This article belongs to the Special Issue Grand Celebration: 10th Anniversary of the Human Genome Project)
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Cardiovascular disease is a major health concern affecting over 80,000,000 people in the U.S. alone. Heart failure, cardiomyopathy, heart rhythm disorders, atherosclerosis and aneurysm formation have significant heritable contribution. Supported by familial aggregation and twin studies, these cardiovascular diseases are influenced by genetic variation. Family-based linkage studies and population-based genome-wide association studies (GWAS) have each identified genes and variants important for the pathogenesis of cardiovascular disease. The advent of next generation sequencing has ushered in a new era in the genetic diagnosis of cardiovascular disease, and this is especially evident when considering cardiomyopathy, a leading cause of heart failure. Cardiomyopathy is a genetically heterogeneous disorder characterized by morphologically abnormal heart with abnormal function. Genetic testing for cardiomyopathy employs gene panels, and these panels assess more than 50 genes simultaneously. Despite the large size of these panels, the sensitivity for detecting the primary genetic defect is still only approximately 50%. Recently, there has been a shift towards applying broader exome and/or genome sequencing to interrogate more of the genome to provide a genetic diagnosis for cardiomyopathy. Genetic mutations in cardiomyopathy offer the capacity to predict clinical outcome, including arrhythmia risk, and genetic diagnosis often provides an early window in which to institute therapy. This discussion is an overview as to how genomic data is shaping the current understanding and treatment of cardiovascular disease. View Full-Text
Keywords: next generation sequencing; cardiovascular disease; genetic profiling; whole genome sequencing next generation sequencing; cardiovascular disease; genetic profiling; whole genome sequencing

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Puckelwartz, M.J.; McNally, E.M. Genetic Profiling for Risk Reduction in Human Cardiovascular Disease. Genes 2014, 5, 214-234.

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