QTc prolongation and family history of sudden death in a patient with desmin cardiomyopathy

Pacing Clin Electrophysiol. 2011 Dec;34(12):e105-8. doi: 10.1111/j.1540-8159.2010.02826.x. Epub 2010 Jul 15.

Abstract

This case report describes a pregnant female patient who presented with new-onset congestive heart failure symptoms and prolonged QTc, with strong family history of sudden death. Endomyocardial biopsy and genetic testing revealed myocardial desmin accumulation and a previously described mutation in the DES (desmin) gene, as well as variants in two LQT genes, SCN5A and KCNH2. The case highlights the phenotypic variability for a particular desmin genotype, and the possible interaction of desminopathy with LQT variants not independently associated with large differences in current properties or QT prolongation from wild type.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Death, Sudden, Cardiac / etiology
  • Death, Sudden, Cardiac / prevention & control
  • Defibrillators, Implantable
  • Desmin / genetics*
  • ERG1 Potassium Channel
  • Electrocardiography
  • Electrophysiologic Techniques, Cardiac
  • Ether-A-Go-Go Potassium Channels / genetics
  • Exons
  • Female
  • Heart Failure / genetics*
  • Heart Failure / pathology
  • Heart Failure / therapy
  • Humans
  • Long QT Syndrome / genetics*
  • Long QT Syndrome / therapy
  • Mutation*
  • Myositis, Inclusion Body / genetics*
  • Myositis, Inclusion Body / pathology
  • Myositis, Inclusion Body / therapy
  • NAV1.5 Voltage-Gated Sodium Channel
  • Pregnancy
  • Pregnancy Complications, Cardiovascular / genetics*
  • Sodium Channels / genetics
  • Treatment Outcome

Substances

  • Desmin
  • ERG1 Potassium Channel
  • Ether-A-Go-Go Potassium Channels
  • KCNH2 protein, human
  • NAV1.5 Voltage-Gated Sodium Channel
  • SCN5A protein, human
  • Sodium Channels

Supplementary concepts

  • Myopathy, desmin storage