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dilated cardiomyopathy

Wednesday 26 November 2003

Definition: Dilated cardiomyopathy is a disorder characterized by cardiac dilation and reduced systolic function. It represents an outcome of a heterogeneous group of inherited and acquired disorders.


- Dilated cardiomyopathy


- nongenetic conditions

  • infectious or postinfectious conditions
    • Coxsackie virus Q and B
    • Enteroviruses
    • Mumps
    • Coryne diphteroides
  • Endocrine/vitamin/mineral disorders
    • Thyrotoxicosis
    • Hypothyroidism
    • Vitamin E deficiency
    • Selenium deficiency
    • Infants of diabetic mothers
  • Cellular toxicity
  • Anthracycline toxicity
  • Hemochromatosis
  • Alcohol
  • Cyclophosphamide

- Genetic/familial conditions

  • germline mutations in genes LMNA , MYH7 , TNNT2 , ACTC1 , DES , MYBPC3 , TPM1 , TNNI3 , ZASP , TAZ , PLN , TTR , LAMP2 , SGCD , MTTL1 , MTTQ , MTTH , MTTK , MTTS1 , MTTS2 , MTND1 , MTND5 , MTND6
  • Infiltrative disorders - Storage disorders
    • Disorders of glycogen metabolism
    • Disorders of mucopolysaccharide degradation
      • Mucopolysaccharidosis type I (Hurler’s syndrome)
      • Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome)
    • Mitochondrial transfer RNA mutations
    • Mitochondrial DNA deletions and duplications
    • Barth syndrome (3-methylglucuronic aciduria type II)
  • Disorders of fatty acid metabolism
    • Primary or systemic carnitine uptake deficiency
    • Muscle carnitine deficiency
    • Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
  • Toxic intermediary metabolite disorders
    • Proplenic acidemia
    • beta-ketothiolase deficiency
  • Familial and neuromuscular conditions
    • Familial dilated cardiomyopathy (DCMP)
    • Familail dilated cardiomyopathy with conduction defects
    • Isolated ventricular noncompaction
    • X-linked dilated cardiomyopathy
    • Myotonic dystrophy
    • Emery-Dreifuss muscular dystrophy
    • Limb-Girdle muscular dystrophy
    • Congenital muscular dystrophy
  • Congenital myopathies
    • Centronuclear (myotubular) myopathy
    • Nemaline rod myopathy
    • Minicore-multicore myopathy

Genes involved

- germline mutations in genes LMNA, MYH7, TNNT2, ACTC1, DES, MYBPC3, TPM1, TNNI3, ZASP, TAZ, PLN, TTR, LAMP2, SGCD, MTTL1, MTTQ, MTTH, MTTK, MTTS1, MTTS2, MTND1, MTND5, MTND6

Loci involved

- CMD1A (1p11-q11) : mutations in the lamin A/C gene (LMNA) (MIM.150330)
- CMD1B (MIM.600884) on 9q13
- CMD1C (MIM.601493) on 10q21
- CMD1D (MIM.601494) on 1q32
- CMD1E (MIM.601154) on 3p
- CMD1F (MIM.602067) on 6q
- CMD1G (MIM.604145) on 2q31
- CMD1H (MIM.604288) on 2q14-q22
- CMD1I (MIM.604765) (2q35) : mutation in the DES gene (MIM.125660)
- CMD1J (MIM.605362) on 6q23-q24
- CMD1K (MIM.605582) on 6q12-q16
- CMD1L (MIM.606685) : mutations in the SGCD gene (MIM.601411) on 5q33
- CMD1M (MIM.607482) : mutation in the CSRP3 gene (MIM.600824) on 11p15.1
- CMD1N (MIM.607487) : mutation in the TCAP gene (MIM.604488) on 17q12


- mutation in the ACTC gene (MIM.102540)
- mutation in the cardiac beta-myosin heavy chain gene (MYH7) (MIM.160760),
- mutation in the cardiac troponin T gene (TNNT2) (MIM.191045)
- mutation in the cardiac myosin-binding protein C gene (MYBPC3) (MIM.600958)
- missense mutation in the phospholamban gene (MIM.172405)
- For X-linked dilated cardiomyopathy, mutations in the dystrophin and G4.5 genes have been reported.
- mutations in actin (close to the dystrophin binding domain)
- mutations in desmin, a component of the intermediate filaments, have been reported.
- EYA4 germline mutations: dilated cardiomyopathy and sensorineural hearing loss

The genes at a further 6 loci associated with autosomal dominant dilated cardiomyopathy (associated with conduction disease in 2 cases) remain unidentified.

Due to the mutations in dystrophin, actin and desmin, we have proposed that dilated cardiomyopathy is a "cytoskeletalopathy", and we are currently investigating the involvement of these genes in patients.


- Camargo A, Azuaje F. Identification of dilated cardiomyopathy signature genes through gene expression and network data integration. Genomics. 2008 Jun 30. PMID: 18595652

- Okazaki T, Honjo T. Pathogenic roles of cardiac autoantibodies in dilated cardiomyopathy. Trends Mol Med. 2005 Jul;11(7):322-6. PMID: 15935731