Format

Send to

Choose Destination

See 1 citation:

Curr Cardiol Rep. 2013 Jul;15(7):375. doi: 10.1007/s11886-013-0375-1.

Genetic evaluation of dilated cardiomyopathy.

Author information

1
Division of Human Genetics, The Ohio State University College of Medicine, Columbus, OH 43210, USA. ana.morales@osumc.edu

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.

PMID:
23686784
DOI:
10.1007/s11886-013-0375-1
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Springer
Loading ...
Support Center