Evolving molecular diagnostics for familial cardiomyopathies: At the heart of it all

Thomas E. Callis, Brian C. Jensen, Karen E. Weck, Monte S. Willis

Research output: Contribution to journalReview article

20 Scopus citations

Abstract

Cardiomyopathies are an important and heterogeneous group of common cardiac diseases. An increasing number of cardiomyopathies are now recognized to have familial forms, which result from single-gene mutations that render a Mendelian inheritance pattern, including hypertrophic cardiomyopathy, dilated cardiomyopathy, restrictive cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy and left ventricular noncompaction cardiomyopathy. Recently, clinical genetic tests for familial cardiomyopathies have become available for clinicians evaluating and treating patients with these diseases, making it necessary to understand the current progress and challenges in cardiomyopathy genetics and diagnostics. In this review, we summarize the genetic basis of selected cardiomyopathies, describe the clinical utility of genetic testing for cardiomyopathies and outline the current challenges and emerging developments.

Original languageEnglish (US)
Pages (from-to)329-351
Number of pages23
JournalExpert Review of Molecular Diagnostics
Volume10
Issue number3
DOIs
StatePublished - Apr 1 2010
Externally publishedYes

Keywords

  • Arrhythmogenic right ventricular
  • Cardiomyopathy
  • Dilated
  • Genetic testing
  • Hypertrophic
  • Left ventricular noncompaction
  • Molecular diagnostics
  • Mutations
  • Restrictive

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Molecular Medicine
  • Molecular Biology
  • Genetics

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