Exploring digenic inheritance in arrhythmogenic cardiomyopathy.

ABSTRACT:

Background

Arrhythmogenic cardiomyopathy (ACM) is an inherited genetic disorder, characterized by the substitution of heart muscle with fibro-fatty tissue and severe ventricular arrhythmias, often leading to heart failure and sudden cardiac death. ACM is considered a monogenic disorder, but the low penetrance of mutations identified in patients suggests the involvement of additional genetic or environmental factors.

Methods

We used whole exome sequencing to investigate digenic inheritance in two ACM families where previous diagnostic tests have revealed a PKP2 mutation in all affected and some healthy individuals. In family members with PKP2 mutations we determined all genes that harbor variants in affected but not in healthy carriers or vice versa. We computationally priori

SUBMITTER: Konig E 

PROVIDER: S-EPMC5723071 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature