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Long QT syndrome and left ventricular noncompaction in 4 family members across 2 generations with KCNQ1 mutation

Mira Kharbanda1, Amanda Hunter2, Stephen Tennant3

  • 1West of Scotland Clinical Genetics Service, Level 2A Laboratory Medicine Building, Queen Elizabeth University Hospital, 1345 Govan Road, Glasgow, G51 4TF, UK.

European Journal of Medical Genetics
|March 3, 2017
PubMed

Insights

Long QT syndrome and left ventricular noncompaction are rarely linked. This study identifies a KCNQ1 gene mutation in a family with both conditions, suggesting genetic links.

Area of Science:

  • Cardiology
  • Genetics
  • Molecular Biology

Background:

  • Long QT syndrome (LQTS) and left ventricular noncompaction (LVNC) are distinct cardiac conditions.
  • The co-occurrence of LQTS and LVNC is rare, with limited reported cases.

Observation:

  • This study investigates a family with a history of prolonged QT interval and LVNC across two generations.
  • Genetic analysis revealed a pathogenic mutation in the KCNQ1 gene in affected family members.

Findings:

  • A pathogenic mutation in KCNQ1 is associated with the co-occurrence of prolonged QT interval and LVNC.
  • This genetic finding provides a potential molecular link between these two cardiac abnormalities.

Implications:

  • The KCNQ1 gene mutation may play a role in the pathogenesis of combined LQTS and LVNC.
  • Genetic screening for KCNQ1 mutations may be beneficial in patients presenting with unexplained LQTS and LVNC.

Keywords:
ArrhythmiasCardiomyopathyGenetics

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