New molecular genetic tests in the diagnosis of heart disease

Clin Lab Med. 2014 Mar;34(1):137-56, vii-viii. doi: 10.1016/j.cll.2013.11.011. Epub 2014 Jan 14.

Abstract

With the increasing use of next-generation sequencing applications, there has been an increase in identification of genetic causes of cardiac disease. This technology has also enabled the transition of these genes into the clinical setting and the rapid growth of large gene tests for the diagnosis of heart disorders. The ability to combine tests to include similar, but distinct, diseases has shown that many genes can be responsible for a wide variety of both syndromic and nonsyndromic disorders. This article discusses the current state of molecular genetic diagnosis for cardiac disorders, focusing on diseases with mendelian inheritance.

Keywords: Biomarkers; Cardiac markers; Cardiomyopathy; Cardiovascular genetics; Channelopathy; Congenital heart defects; Genetic testing; Thoracic aneurysm.

Publication types

  • Review

MeSH terms

  • Aortic Aneurysm, Thoracic / diagnosis
  • Aortic Aneurysm, Thoracic / genetics
  • Arrhythmias, Cardiac / diagnosis
  • Arrhythmias, Cardiac / genetics
  • Arteries / abnormalities
  • Cardiomyopathy, Dilated / diagnosis
  • Cardiomyopathy, Dilated / genetics
  • Cardiomyopathy, Hypertrophic / diagnosis
  • Cardiomyopathy, Hypertrophic / genetics
  • Cardiomyopathy, Restrictive / diagnosis
  • Cardiomyopathy, Restrictive / genetics
  • Diagnostic Techniques, Cardiovascular
  • Ehlers-Danlos Syndrome / diagnosis
  • Ehlers-Danlos Syndrome / genetics
  • Heart Defects, Congenital / diagnosis
  • Heart Defects, Congenital / genetics
  • Heart Diseases / diagnosis*
  • Heart Diseases / genetics
  • Humans
  • Joint Instability / diagnosis
  • Joint Instability / genetics
  • Marfan Syndrome / diagnosis
  • Marfan Syndrome / genetics
  • Skin Diseases, Genetic / diagnosis
  • Skin Diseases, Genetic / genetics
  • Vascular Malformations / diagnosis
  • Vascular Malformations / genetics

Supplementary concepts

  • Arterial Tortuosity Syndrome