Peripartum cardiomyopathy presenting with syncope due to Torsades de pointes: a case of long QT syndrome with a novel KCNH2 mutation

Intern Med. 2012;51(5):461-4. doi: 10.2169/internalmedicine.51.5943. Epub 2012 Mar 1.

Abstract

Peripartum cardiomyopathy (PPCM) is a cardiomyopathy of unknown cause that occurs in the peripartum period. We report a case of PPCM presenting with syncope 1 month after an uncomplicated delivery. Electrocardiography showed Torsades de pointes (TdP) and QT interval prolongation. Echocardiography showed left ventricular systolic dysfunction and endomyocardial biopsy showed myocyte degeneration and fibrosis. Administration of magnesium sulfate and temporary pacing eliminated recurrent TdP. Genetic analyses revealed that recurrent TdP occurred via electrolyte disturbance and cardiac failure due to PPCM on the basis of a novel mutation in KCNH2, a gene responsible for inherited type 2 long QT syndrome.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Cardiac Pacing, Artificial
  • Cardiomyopathies / diagnosis*
  • Cardiomyopathies / etiology
  • Cardiomyopathies / physiopathology
  • ERG1 Potassium Channel
  • Electrocardiography
  • Ether-A-Go-Go Potassium Channels / genetics*
  • Female
  • Fibrosis
  • Humans
  • Long QT Syndrome / diagnosis*
  • Long QT Syndrome / genetics*
  • Long QT Syndrome / physiopathology
  • Magnesium Sulfate / therapeutic use
  • Mutation / genetics*
  • Myocytes, Cardiac / pathology
  • Peripartum Period*
  • Syncope / diagnosis*
  • Syncope / etiology
  • Syncope / physiopathology
  • Torsades de Pointes / complications*
  • Torsades de Pointes / physiopathology
  • Torsades de Pointes / therapy
  • Treatment Outcome
  • Ventricular Dysfunction, Left / physiopathology

Substances

  • ERG1 Potassium Channel
  • Ether-A-Go-Go Potassium Channels
  • KCNH2 protein, human
  • Magnesium Sulfate