Is Occult Genetic Substrate the Missing Link Between Arrhythmic Mitral Annular Disjunction Syndrome and Sudden Cardiac Death?

Can J Cardiol. 2021 Oct;37(10):1651-1653. doi: 10.1016/j.cjca.2021.04.014. Epub 2021 Apr 29.

Abstract

We present the case of a 28-year-old man with a history of unexplained syncope, frequent ventricular arrhythmias, familial LMNA-related dilated cardiomyopathy (DCM), and mitral annular disjunction (MAD). We provide the first association of a novel truncating LMNA variant serving as a potential vulnerable substrate for arrhythmogenic MAD syndrome. This could suggest a possible synergistic role between concealed genetic variants (resulting in fibrosis as a "substrate" for arrhythmogenesis) and the presence of mitral annular disjunction (the "trigger" with mechanical stretch initiating ventricular arrhythmias), which may provide a link between mitral valve prolapse and sudden cardiac death.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Cardiomyopathy, Dilated / complications
  • Cardiomyopathy, Dilated / diagnosis
  • Cardiomyopathy, Dilated / genetics*
  • Death, Sudden, Cardiac / etiology*
  • Echocardiography
  • Genetic Markers
  • Humans
  • Lamin Type A / genetics*
  • Lamin Type A / metabolism
  • Magnetic Resonance Imaging, Cine / methods
  • Male
  • Mitral Valve / abnormalities*
  • Mitral Valve / diagnostic imaging
  • Mitral Valve Prolapse / complications
  • Mitral Valve Prolapse / diagnosis
  • Mitral Valve Prolapse / genetics*
  • Papillary Muscles / diagnostic imaging*
  • Syndrome
  • Tachycardia, Ventricular / diagnosis
  • Tachycardia, Ventricular / etiology*
  • Tachycardia, Ventricular / genetics

Substances

  • Genetic Markers
  • LMNA protein, human
  • Lamin Type A