Genetic Evaluation of Dilated Cardiomyopathy

Overview

Journal Curr Cardiol Rep

Publisher Current Science

Specialty Cardiology & Vascular Diseases

Date 2013 May 21

PMID 23686784

Citations 19

Authors

Ana Morales

Ray E Hershberger

Affiliations

Soon will be listed here.

Abstract

Recent advances have expanded our ability to conduct a comprehensive genetic evaluation for dilated cardiomyopathy (DCM). By evaluating recent literature, this review aims to bring the reader up-to-date on the genetic evaluation of DCM. Updated guidelines have been published. Mutations in BAG3, including a large deletion, were identified in 2 % of DCM. Truncating mutations in TTN were reported in 25 % of DCM. Two new genes have been reported with autosomal recessive DCM. These studies illustrate the role of improved technologies while raising the possibility of a complex genetic model for DCM. The inclusion of TTN has led to an increased genetic testing detection rate of 40 %. While our ability to identify disease-causing variants has increased, so has the identification of variants of unknown significance. A genetic evaluation for DCM must therefore address this complexity.

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