Related Experiment Video
Updated: Jun 20, 2026
Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
Acquired Genotype-Positive Long QT Syndrome After Pediatric Heart Transplantation
Nicholas V Barresi1, Jessica Sebastian2, Gaurav Arora1
1Division of Pediatric Cardiology, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, Pennsylvania, USA.
Background:
Congenital long QT syndrome (LQTS) is rare but significant, as it carries a risk for ventricular arrhythmias and sudden cardiac death. Its diagnosis can be made clinically by serial ECGs, ambulatory ECG monitoring, and exercise stress testing; however, genetic testing is confirmatory in the majority of cases.
Methods:
Here, we describe a rare case of phenotype-positive LQTS in a 6-year-old heart transplant recipient, confirmed 5 years after transplantation to be genotype-positive and thus "acquired" from the transplanted heart.
Results:
Recognition of a persistently prolonged QTc interval on the recipient's serial ECGs led to ambulatory ECG monitoring and exercise stress testing-both of which were suspicious for LQTS. Ultimately, genetic evaluation and cardiac biopsy were obtained and resulted positive for a KCNQ1 pathogenic variant associated with Type 1 LQTS.
Conclusion:
Recognition of persistent, otherwise unexplained, ECG abnormalities can prompt genetic analysis of the allograft, leading to the potential life-saving diagnosis of a channelopathy.
