Genotype Positive Long QT Syndrome in Patients With Coexisting Congenital Heart Disease

Am J Cardiol. 2017 Jul 15;120(2):256-261. doi: 10.1016/j.amjcard.2017.04.018. Epub 2017 Apr 27.


Congenital long QT syndrome (LQTS) is characterized by QT prolongation with predisposition to life-threatening arrhythmia. There have been sporadic reports of LQTS coexisting with more common forms of congenital heart disease (CHD). However, the diagnosis of LQTS when CHD is present may be confounded by several common variables including postoperative electromechanical factors predisposing to ventricular arrhythmia, intrinsic, and postoperative QRS abnormalities. This report documents a single-center experience with patients who have both genetically confirmed LQTS and CHD to examine their modes of presentation and factors associated with making the diagnosis of LQTS in this patient population, as well as potential confounding variables that may mask or delay both LQTS diagnosis and initiation of therapy. A retrospective review was performed of subjects with confirmed LQTS and associated CHD from 1999 to January 2017. Genetic analysis was performed predominantly using commercially available panel testing. A chart review included detailed analysis of electrocardiograms, 24-hour 3-lead rhythm monitors and exercise stress test tracings as well as the genetic test reports. QT intervals were measured using Bazett's formula. Eleven patients were identified. Four patients had LQTS type 1, 6 had LQTS type 2, and 1 had a disease-associated mutation in KCNQ1 and a variant of unknown significance in KCNH2 gene. Two patients had positive cascade screening. Arrhythmia presentations of the LQTS were at both extremes of the cohort age range (in-utero and midchildhood age). There was a seeming overrepresentation of conotruncal anomalies and/or arch anomalies, with 7 of the 11 patients. In conclusion, the diagnosis of LQTS may be challenging in the setting of CHD (a prolonged ST segment may be helpful), and high index of suspicion is required. The overall incidence of LQTS in CHD appears extremely rare, but the diagnosis and true incidence may be masked by confounding electrocardiogrpahic findings and other variables common in CHD.

MeSH terms

  • Abnormalities, Multiple*
  • Adolescent
  • Child
  • Child, Preschool
  • Electrocardiography*
  • Female
  • Follow-Up Studies
  • Genetic Testing
  • Genotype
  • Heart Defects, Congenital / diagnosis
  • Heart Defects, Congenital / genetics*
  • Humans
  • Infant
  • Infant, Newborn
  • Long QT Syndrome / congenital
  • Long QT Syndrome / diagnosis
  • Long QT Syndrome / genetics*
  • Male
  • Retrospective Studies

Supplementary concepts

  • Long Qt Syndrome 2