Translating emerging molecular genetic insights into clinical practice in inherited cardiomyopathies

J Mol Med (Berl). 2018 Oct;96(10):993-1024. doi: 10.1007/s00109-018-1685-y. Epub 2018 Aug 20.


Cardiomyopathies are primarily genetic disorders of the myocardium associated with higher risk of life-threatening cardiac arrhythmias, heart failure, and sudden cardiac death. The evolving knowledge in genomic medicine during the last decade has reshaped our understanding of cardiomyopathies as diseases of multifactorial nature and complex pathophysiology. Genetic testing in cardiomyopathies has subsequently grown from primarily a research tool into an essential clinical evaluation piece with important clinical implications for patients and their families. The purpose of this review is to provide with a contemporary insight into the implications of genetic testing in diagnosis, therapy, and prognosis of patients with inherited cardiomyopathies. Here, we summarize the contemporary knowledge on genotype-phenotype correlations in inherited cardiomyopathies and highlight the recent significant achievements in the field of translational cardiovascular genetics.

Keywords: Arrhythmia; Cardiomyopathy; Genetic test; Genetics; Sudden cardiac arrest; Sudden death.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Arrhythmias, Cardiac / diagnosis
  • Arrhythmias, Cardiac / genetics
  • Cardiomyopathies / diagnosis
  • Cardiomyopathies / genetics*
  • Genetic Testing
  • Humans