title: Genetic evaluation of dilated cardiomyopathy.
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.
authors.affiliation: Division of Human Genetics, The Ohio State University College of Medicine, Columbus, OH 43210, USA. ana.morales@osumc.edu
authors.forename: Ana
authors.initials: A
authors.lastname: Morales
authors.forename: Ray E
authors.initials: RE
authors.lastname: Hershberger
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics; D051017:Apoptosis Regulatory Proteins; D002311:Cardiomyopathy, Dilated / Q000235:genetics*; D064211:Connectin; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D009124:Muscle Proteins / Q000235:genetics; D009154:Mutation; D011494:Protein Kinases / Q000235:genetics
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D051017:Apoptosis Regulatory Proteins; C414431:BAG3 protein, human; D064211:Connectin; D009124:Muscle Proteins; C577285:TTN protein, human; D011494:Protein Kinases