Clinical Implications of the Genetic Architecture of Dilated Cardiomyopathy

Lisa D. Wilsbacher*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

Abstract

Purpose of Review: Dilated cardiomyopathy (DCM) frequently involves an underlying genetic etiology, but the clinical approach for genetic diagnosis and application of results in clinical practice can be complex. Recent Findings: International sequence databases described the landscape of genetic variability across populations, which informed guidelines for the interpretation of DCM gene variants. New evidence indicates that loss-of-function mutations in filamin C (FLNC) contribute to DCM and portend high risk of ventricular arrhythmia. Summary: A clinical framework aids in referring patients for DCM genetic testing and applying results to patient care. Results of genetic testing can change medical management, particularly in a subset of genes that increase risk for life-threatening ventricular arrhythmias, and can influence decisions for defibrillator therapy. Clinical screening and cascade genetic testing of family members should be diligently pursued to identify those at risk of developing DCM.

Original languageEnglish (US)
Article number170
JournalCurrent Cardiology Reports
Volume22
Issue number12
DOIs
StatePublished - Dec 1 2020

Keywords

  • Dilated cardiomyopathy
  • Genetic
  • Genetic testing
  • Heart failure
  • Mutation
  • Variant

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

Fingerprint Dive into the research topics of 'Clinical Implications of the Genetic Architecture of Dilated Cardiomyopathy'. Together they form a unique fingerprint.

Cite this