dilated cardiomyopathy
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Etiology
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.
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
- Infiltrative disorders - Storage disorders
- Disorders of glycogen metabolism
- Glycogen storage disease type IV (Andersen disease - Branchaing enzyme deficiency)
- Disorders of glycogen metabolism
- Disorders of mucopolysaccharide degradation
- Mucopolysaccharidosis type I (Hurler’s syndrome)
- Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome)
- Diminished energy production (Mitochondrial disorders)
- Disorders of oxidative phosphorylation
- Complex I deficiency
- Disorders of oxidative phosphorylation
- Mitochondrial transfer RNA mutations
- MERRF syndrome
- Mitochondrial DNA deletions and duplications
- Barth syndrome (3-methylglucuronic aciduria type II)
- Disorders of fatty acid metabolism
- 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
- Duchenne muscular dystrophy
- Becker muscular dystrophy
- Autosomal recessive muscular dystrophy
- Myotonic dystrophy
- Emery-Dreifuss muscular dystrophy
- Limb-Girdle muscular dystrophy
- Congenital muscular dystrophy
- Congenital myopathies
- Centronuclear (myotubular) myopathy
- Nemaline rod myopathy
- Minicore-multicore myopathy
- Ataxias
- Other
- Isolated ventricular noncompaction
- Tachyarrythmia-produced
- dilated cardiomyopathy and sensorineural hearing loss (EYA4 germline mutations)
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
And
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.
References
Okazaki T, Honjo T. Pathogenic roles of cardiac autoantibodies in dilated cardiomyopathy. Trends Mol Med. 2005 Jul;11(7):322-6. PMID: 15935731