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Genetic Evaluation of Dilated Cardiomyopathy

  • Congestive Heart Failure (J Lindenfeld, Section Editor)
  • Published:
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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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Papers of particular interest, published recently, have been highlighted as: • Of importance

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Ana Morales declares that she has no conflict of interest. Ray E. Hershberger declares that he has no conflict of interest.

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This article does not contain any studies with human or animal subjects performed by any of the authors.

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Authors and Affiliations

  1. Division of Human Genetics, The Ohio State University College of Medicine, Columbus, OH, USA

    Ana Morales & Ray E. Hershberger

  2. Division of Cardiovascular Medicine, Department of Internal Medicine, The Ohio State University College of Medicine, Columbus, OH, USA

    Ray E. Hershberger

  3. Dorothy M. Davis Heart and Lung Research Institute, Room 305, The Ohio State University College of Medicine, 460 West 12th Avenue, Columbus, OH, 43210, USA

    Ana Morales & Ray E. Hershberger

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  1. Ana Morales
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Correspondence to Ana Morales.

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This article is part of the Topical Collection on Congestive Heart Failure

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Morales, A., Hershberger, R.E. Genetic Evaluation of Dilated Cardiomyopathy. Curr Cardiol Rep 15, 375 (2013). https://doi.org/10.1007/s11886-013-0375-1

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