Login / Signup

A Rare Case of the Digenic Inheritance of Long QT Syndrome Type 2 and Type 6.

Annejet HeidaLisette J M E van der DoesAhmed A Y RagabNatasja M S De Groot
Published in: Case reports in medicine (2019)
We report a 37-year-old woman with an out-of-hospital cardiac arrest caused by ventricular fibrillation due to digenic inheritance of long QT syndrome type 2 (KCNH2 gene) and type 6 (KCNE2 gene). During hospitalization, prolonged QTc intervals and frequent episodes of ventricular tachyarrhythmias manifested. Genetic testing identified a mutation of the KCNH2 gene and an unclassified variant, most likely pathogenic, of the KCNE2 gene. This digenic inheritance is extremely rare.
Keyphrases
  • copy number
  • mitochondrial dna
  • genome wide
  • rare case
  • heart failure
  • genome wide identification
  • left ventricular
  • case report
  • atrial fibrillation
  • drug induced
  • genome wide analysis
  • catheter ablation