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References OMIM Gene GeneReviews HGMD HGNC
last update : 14-05-2019
Symbol LQT14
Location 14q32.11
Name long QT syndrome 14
Corresponding gene CALM1
Main clinical features
  • frequent cardiac arrest in infancy
  • with markedly prolonged QTc intervals and multiple episodes of ventricular fibrillation
  • sudden cardiac death is frequently presents as the first clinical manifestation of Long QT (PMID: 24076290))
  • Genetic determination autosomal dominant
    Function/system disorder cardiovascular
    Type disease
  • mutations leading to a disruption of Ca2+/calmodulin (CaM)-dependent inactivation of L-type Ca2+ channels (PMID: 27765793))