Genetics in Dilated Cardiomyopathy

Abstract

Discoveries made during the last 20 years have revealed a genetic origin in many cases of dilated cardiomyopathy (DCM). Currently, over 40 genes have been associated with the disease. Mutations in DCM-causing genes induce the condition through a variety of different pathological pathways with complex and not completely understood mechanisms. Genes that encode for sarcomeric, cytoskeletal, nuclear membrane, dystrophin-associated glycoprotein complex and desmosomal proteins are the principal genes involved. In this review we discuss the most frequent DCM-causing genes. We propose a classification in which DCM genes are considered as being major or minor genes according to their mutation frequency and the available supporting evidence. The main phenotypic characteristics associated with each gene are discussed.

KEYWORDS::

• dilated cardiomyopathy
• genes
• genetics
• mutation

Financial & competing interests disclosure

This work was supported by the Spanish Ministry of Health (grants RD06/03/0018 and RD12/0042/0066) and the Instituto de Salud Carlos III (PS09/00941, PI11/0699, PI12/01941 and PI12/01795). P Garcia-Pavia has received speaking fees from Ferrer inCode. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.

No writing assistance was utilized in the production of this manuscript.

Additional information

Funding

This work was supported by the Spanish Ministry of Health (grants RD06/03/0018 and RD12/0042/0066) and the Instituto de Salud Carlos III (PS09/00941, PI11/0699, PI12/01941 and PI12/01795). P Garcia-Pavia has received speaking fees from Ferrer inCode. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.