Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death.

ABSTRACT:

Aims

Catecholaminergic polymorphic ventricular tachycardia (CPVT) and short QT syndrome (SQTS) are inherited arrhythmogenic disorders that can cause sudden death. Numerous genes have been reported to cause these conditions, but evidence supporting these gene-disease relationships varies considerably. To ensure appropriate utilization of genetic information for CPVT and SQTS patients, we applied an evidence-based reappraisal of previously reported genes.

Methods and results

Three teams independently curated all published evidence for 11 CPVT and 9 SQTS implicated genes using the ClinGen gene curation framework. The results were reviewed by a Channelopathy Expert Panel who provided the final classifications. Seven genes had definitive to moderate evidence for disease causation

SUBMITTER: Walsh R 

PROVIDER: S-EPMC9009401 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature