KEGG   DISEASE: H00294Help
Entry
H00294                      Disease                                

Name
Dilated cardiomyopathy (DCM)
Description
Dilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac death from ventricular arrhythmia. Genetically inherited forms of DCM ("familial" DCM) have been identified in 25-35% of patients presenting with this disease, and the inherited gene defects are an important cause of "familial" DCM. The pathophysiology may be separated into two categories: defects in force generation and defects in force transmission. In cases where an underlying pathology cannot be identified, the patient is diagnosed with an "idiopathic" DCM. Current hypotheses regarding causes of "idiopathic" DCM focus on myocarditis induced by enterovirus and subsequent autoimmune myocardium impairments. Antibodies to the beta1-adrenergic receptor (beta1AR), which are detected in a substantial number of patients with "idiopathic" DCM,  may increase the concentration of intracellular cAMP and intracellular Ca2+, a condition often leading to a transient hyper-performance of the heart followed by depressed heart function and heart failure.
Category
Cardiovascular disease
BRITE hierarchy
Pathway
Dilated cardiomyopathy
Gene
TNNT2 (mutation) [HSA:7139] [KO:K12045]
TTN (mutation) [HSA:7273] [KO:K12567]
DES (mutation) [HSA:1674] [KO:K07610]
SGCD (mutation) [HSA:6444] [KO:K12563]
MYBPC3 (mutation) [HSA:4607] [KO:K12568]
MYH7 (mutation) [HSA:4625] [KO:K17751]
ACTC1 (mutation) [HSA:70] [KO:K12314]
TPM1 (mutation) [HSA:7168] [KO:K10373]
LMNA (mutation) [HSA:4000] [KO:K12641]
DMD (mutation) [HSA:1756] [KO:K10366]
Tafazzin (mutation) [HSA:6901] [KO:K13511]
LDB3 (mutation) [HSA:11155]
ACTN2 (mutation) [HSA:88] [KO:K05699]
NEXN (mutation) [HSA:91624]
RBM20 (mutation) [HSA:282996]
SCN5A (mutation) [HSA:6331] [KO:K04838]
MYH6 (mutation) [HSA:4624] [KO:K17751]
TNNI3 (mutation) [HSA:7137] [KO:K12044]
SDHA (mutation) [HSA:6389] [KO:K00234]
EYA4 (mutation) [HSA:2070] [KO:K17622]
CSRP3 (mutation) [HSA:8048] [KO:K09377]
TCAP (mutation) [HSA:8557]
ABCC9 (mutation) [HSA:10060] [KO:K05033]
PLN (mutation) [HSA:5350] [KO:K05852]
TMPO (mutation) [HSA:7112]
PSEN1 (mutation) [HSA:5663] [KO:K04505]
PSEN2 (mutation) [HSA:5664] [KO:K04522]
VCL (mutation) [HSA:7414] [KO:K05700]
FKTN (mutation) [HSA:2218]
TNNC1 (mutation) [HSA:7134] [KO:K05865]
TNNI3 (mutation) [HSA:7137] [KO:K12044]
TAZ (mutation) [HSA:6901] [KO:K13511]
HLA-DRB1 (polymorphism) [HSA:3123] [KO:K06752]
HLA-DPA1 (polymorphism) [HSA:3113] [KO:K06752]
HLA-DPB1 (polymorphism) [HSA:3115] [KO:K06752]
HLA-DQA1 (polymorphism) [HSA:3117] [KO:K06752]
HLA-DQB1 (polymorphism) [HSA:3119] [KO:K06752]
Env factor
LPS [CPD:C00338]
Ethanol [CPD:C00469]
Anthracycline
Low oxygen [CPD:C00007]
Pathogen
Coxsackievirus B3
Adenovirus
Cytomegalovirus
Parvovirus B19
Hepatitis C-virus [VGNM:NC_004102]
Human immunodeficiency virus (HIV) [VGNM:NC_001802 NC_001722]
Epstein-Barr virus
Human herpes virus-6 (HHV6) [VGNM:NC_001664 NC_000898]
Trypanosoma cruzi [GN:tcr]
Chlamydia pneumoniae
Borrelia burgdorferi
Marker
Virus-specific IgM class antibodies
Other DBs
Reference
PMID:12270949 (gene)
  Authors
Fatkin D, Graham RM
  Title
Molecular mechanisms of inherited cardiomyopathies.
  Journal
Physiol Rev 82:945-80 (2002)
Reference
PMID:12844200 (gene)
  Authors
Moolman-Smook JC, Mayosi BM, Brink PA, Corfield VA
  Title
Molecular genetics of cardiomyopathy: changing times, shifting paradigms.
  Journal
Cardiovasc J S Afr 14:145-55 (2003)
Reference
PMID:20864896 (gene)
  Authors
Hershberger RE, Morales A, Siegfried JD
  Title
Clinical and genetic issues in dilated cardiomyopathy: a review for genetics professionals.
  Journal
Genet Med 12:655-67 (2010)
Reference
PMID:20236114 (gene)
  Authors
Franciosi S
  Title
Nexilin: a potential novel factor contributing to dilated cardiomyopathy.
  Journal
Clin Genet 77:535-6 (2010)
Reference
PMID:20551992 (gene)
  Authors
Levitas A, Muhammad E, Harel G, Saada A, Caspi VC, Manor E, Beck JC, Sheffield V, Parvari R
  Title
Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase.
  Journal
Eur J Hum Genet 18:1160-5 (2010)
Reference
PMID:19015585 (gene)
  Authors
Arimura T, Hayashi YK, Murakami T, Oya Y, Funabe S, Arikawa-Hirasawa E, Hattori N, Nishino I, Kimura A
  Title
Mutational analysis of fukutin gene in dilated cardiomyopathy and hypertrophic cardiomyopathy.
  Journal
Circ J 73:158-61 (2009)
Reference
(gene)
  Authors
Richard P, Villard E, Charron P, Isnard R
  Title
The Genetic Bases of Cardiomyopathies
  Journal
J Am Coll Cardiol 48:79-89 (2006)
Reference
PMID:19017683 (env_factor, marker, drug)
  Authors
Luk A, Ahn E, Soor GS, Butany J
  Title
Dilated cardiomyopathy: a review.
  Journal
J Clin Pathol 62:219-25 (2009)
Reference
PMID:15246023 (env_factor, drug)
  Authors
Mobini R, Maschke H, Waagstein F
  Title
New insights into the pathogenesis of dilated cardiomyopathy: possible underlying autoimmune mechanisms and therapy.
  Journal
Autoimmun Rev 3:277-84 (2004)
Reference
PMID:15931504 (env_factor)
  Authors
Poller W, Kuhl U, Tschoepe C, Pauschinger M, Fechner H, Schultheiss HP
  Title
Genome-environment interactions in the molecular pathogenesis of dilated cardiomyopathy.
  Journal
J Mol Med 83:579-86 (2005)
Reference
PMID:11716909 (drug)
  Authors
Franz WM, Muller OJ, Katus HA
  Title
Cardiomyopathies: from genetics to the prospect of treatment.
  Journal
Lancet 358:1627-37 (2001)

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