Progress in Pediatric Cardiology
Volume 25, Issue 1 , Pages 57-67, April 2008

Genetics of familial dilated cardiomyopathy

  • Shaji C. Menon

      Affiliations

    • Department of Pediatric and Adolescent Medicine, Division of Pediatric Cardiology, Mayo Clinic, Rochester, MN, USA
    • ,
  • Timothy M. Olson

      Affiliations

    • Department of Pediatric and Adolescent Medicine, Division of Pediatric Cardiology, Mayo Clinic, Rochester, MN, USA
    • Department of Medicine, Division of Cardiovascular Diseases, Mayo Clinic, Rochester, MN, USA
    • ,
  • Virginia V. Michels

      Affiliations

    • Department of Medical Genetics, Mayo Clinic, Rochester, MN, USA
    • Corresponding Author InformationCorresponding author. Department of Medical Genetics, Mayo Clinic College of Medicine, 200 First Street SW, Rochester, MN 55905, USA. Tel.: +1 507 284 2229; fax: +1 507 284 1067.

Abstract 

Dilated cardiomyopathy (DCM) is a primary heart muscle disease characterized by ventricular dilatation and impaired systolic function. DCM is the most common form of cardiomyopathy, and is also the commonest cause for heart failure and cardiac transplantation in adults and children. The frequency of familial occurrence of DCM had been significantly underestimated in the past, but extensive family studies showed that 35–45% of cases are familial. This recognition led to molecular genetic investigations that have further enhanced the understanding of the molecular pathogenesis of DCM. In this review, we discuss these new insights into the genetics of DCM which will have important implications for the diagnosis, risk stratification and treatment of DCM.

Keywords: Dilated cardiomyopathy, Familial, Genetics, Pediatric

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PII: S1058-9813(07)00168-3

doi:10.1016/j.ppedcard.2007.11.013

Progress in Pediatric Cardiology
Volume 25, Issue 1 , Pages 57-67, April 2008

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