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Dilated cardiomyopathy (DCM)

(last modified January 25, 2004)

Dilated cardiomyopathy (DCM) is a primary heart muscle disease characterised by left ventricular dilation and systolic dysfunction, with secondary diastolic dysfunction and occasionally associated right ventricular disease (Dec & Fuster). The prevelance of DCM in the population is about 36/10,000, the incidence per year 3.5-8.5/100,000. DCM is the a common reason for heart failure and cardiac transplantation.

The causes underlying DCM are heterogeneous, including myocarditis, drug toxicity, ischemia-induced metabolic, mitochondrial and genetic abnormalities (Tsubata). A genetic cause of DCM is identified in about 30% of cases. Autosomal dominant inheritance is most common, but X-linked, autosomal recessive and mitochondrial inheritance have also been reported.

Lately, the genetic basis of DCM has been studied which resulted in identification of multiple loci and six genes (for summary see OMIM:115200);

• X-linked
  • Xp21.2  -  dystrophin (LocusLink: DMD)  -  XLCM (OMIM: 302045)
    **   XLDC on these pages
    **   DMD on these pages  /  DMD mutation database
  • Xq28  -  tafazzin (LocusLink: TAZ)  -  CMD3A (OMIM: 300069)
• autosomal dominant
  • 1q21.2  -  lamin A/C  -  CDM1A (OMIM: 115200)
    **   LMNA on these pages  /  LMNA mutation database
  • 9q13  -  CMD1B (OMIM: 600884)
  • 10q21-q23  -  CMD1C (OMIM: 601493)
  • 1q32  -  CMD1D (OMIM: 601494)
  • 3p25-p22  -  CMD1E (OMIM: 601154)
  • 6q23 - CMD1F (602067)
  • 2q24.3  -  CMD1G (OMIM: 604145)
  • 2q14-q22  -  CMD1H (OMIM: 604288
  • 2q35  -  desmin (LocusLink: DES)  -  CMD1I (OMIM: 604765)
  • 6q23-q24  -  CMD1J (OMIM: 605362)
  • 6q12-q16  -  CMD1K (OMIM: 605582)
  • 5q33  -  sarcoglycan delta  - CMD1L (OMIM: 606685)
    **   SGCD on these pages  /  SGCD mutation database
  • 15q14  -  cardiac actin

For a recent review see Seidman & Seidman (2001).

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