Genealogy and clinical course of catecholaminergic polymorphic ventricular tachycardia caused by the ryanodine receptor type 2 P2328S mutation.

ABSTRACT:

Background

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe inherited arrhythmic disease associated with a risk of syncope and sudden cardiac death (SCD).

Aims

We aimed at identifying RYR2 P2328S founder mutation carriers and describing the clinical course associated with the mutation.

Methods

The study population was drawn from the Finnish Inherited Cardiac Disorder Research Registry, and from the present genealogical study. Kaplan-Meier graphs, log-rank test and Cox regression model were used to evaluate the clinical course.

Results

Genealogical study revealed a common ancestor couple living in the late 17th century. A total of 1837 living descendants were tested for RYR2 P2328S mutation unveiling 62 mutation carriers aged mean 39±23 y

SUBMITTER: Koponen M 

PROVIDER: S-EPMC7735638 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature