Diagnostic, Prognostic, and Therapeutic Implications of Genetic Testing for Hypertrophic Cardiomyopathy

J. Martijn Bos, Jeffrey A. Towbin, Michael J. Ackerman

Research output: Contribution to journalReview articlepeer-review

250 Scopus citations

Abstract

Over the last 2 decades, the pathogenic basis for the most common heritable cardiovascular disease, hypertrophic cardiomyopathy (HCM), has been investigated extensively. Affecting approximately 1 in 500 individuals, HCM is the most common cause of sudden death in young athletes. In recent years, genomic medicine has been moving from the bench to the bedside throughout all medical disciplines including cardiology. Now, genomic medicine has entered clinical practice as it pertains to the evaluation and management of patients with HCM. The continuous research and discoveries of new HCM susceptibility genes, the growing amount of data from genotype-phenotype correlation studies, and the introduction of commercially available genetic tests for HCM make it essential that the modern-day cardiologist understand the diagnostic, prognostic, and therapeutic implications of HCM genetic testing.

Original languageEnglish (US)
Pages (from-to)201-211
Number of pages11
JournalJournal of the American College of Cardiology
Volume54
Issue number3
DOIs
StatePublished - Jul 14 2009

Keywords

  • cardiomyopathy
  • genomics
  • hypertrophic

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

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