A cardio-neurological form of laminopathy: dilated cardiomyopathy with permanent partial atrial standstill and axonal neuropathy

Pacing Clin Electrophysiol. 2009 Mar;32(3):410-5. doi: 10.1111/j.1540-8159.2008.02254.x.

Abstract

We present the first form of laminopathy connected with a new mutation of the lamin A/C gene expressed by dilated cardiomyopathy and partial atrial standstill associated with Charcot-Marie-Tooth type 2 axonal neuropathy. The rapid development of the cardiac disease was controlled by medical treatment and resynchronization therapy associated with a defibrillator.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Atrial Flutter / complications*
  • Atrial Flutter / diagnosis*
  • Atrial Flutter / genetics
  • Atrial Flutter / therapy
  • Bradycardia / complications*
  • Bradycardia / diagnosis*
  • Bradycardia / genetics
  • Bradycardia / therapy
  • Cardiomyopathy, Dilated / complications*
  • Cardiomyopathy, Dilated / diagnosis*
  • Cardiomyopathy, Dilated / genetics
  • Cardiomyopathy, Dilated / therapy
  • Genetic Predisposition to Disease / genetics
  • Humans
  • Lamin Type A / genetics*
  • Male

Substances

  • LMNA protein, human
  • Lamin Type A