Utility of Post-Mortem Genetic Testing in Cases of Sudden Arrhythmic Death Syndrome.

ABSTRACT:

Background

Sudden arrhythmic death syndrome (SADS) describes a sudden death with negative autopsy and toxicological analysis. Cardiac genetic disease is a likely etiology.

Objectives

This study investigated the clinical utility and combined yield of post-mortem genetic testing (molecular autopsy) in cases of SADS and comprehensive clinical evaluation of surviving relatives.

Methods

We evaluated 302 expertly validated SADS cases with suitable DNA (median age: 24 years; 65% males) who underwent next-generation sequencing using an extended panel of 77 primary electrical disorder and cardiomyopathy genes. Pathogenic and likely pathogenic variants were classified using American College of Medical Genetics (ACMG) consensus guidelines. The yield of combined molecular autopsy

SUBMITTER: Lahrouchi N 

PROVIDER: S-EPMC5405216 | biostudies-literature | 2017 May

REPOSITORIES: biostudies-literature