KEGG   DISEASE: Dilated cardiomyopathyHelp
Entry
H00294                      Disease                                

Name
Dilated cardiomyopathy
  Supergrp
Dystrophinopathies [DS:H00562]
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
Human diseases [BR:br08402]
 Cardiovascular diseases
  Cardiac diseases
   H00294  Dilated cardiomyopathy
Human diseases in ICD-11 classification [BR:br08403]
 11 Diseases of the circulatory system
  Diseases of the myocardium or cardiac chambers
   BC43  Cardiomyopathy
    H00294  Dilated cardiomyopathy
BRITE hierarchy
Pathway
hsa05414  Dilated cardiomyopathy (DCM)
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] [KO:K19867]
ACTN2 (mutation) [HSA:88] [KO:K21073]
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] [KO:K19879]
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] [KO:K19872]
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 [GN:T40066]
Human immunodeficiency virus 1 (HIV-1) [GN:T40001]
Human immunodeficiency virus 2 (HIV-2) [GN:T40002]
Human herpesvirus 4 (Epstein-Barr virus) [GN:T40079]
Human herpesvirus 6B [GN:T40075]
Human herpes virus-6 (HHV6) [RS:NC_001664]
Trypanosoma cruzi [GN:tcr]
Chlamydia pneumoniae
Borrelia burgdorferi
Other DBs
ICD-11: BC43.0
ICD-10: I42
OMIM: 601494 604145 604765 606685 115200 613426 613424 611878 302045 601493 612158 613122 613172 601154 613252 613642 605362 607482 607487 608569 609909 613740 613694 613697 611407 611615 611879 611880 613286 300069
Reference
  Authors
Fatkin D, Graham RM
  Title
Molecular mechanisms of inherited cardiomyopathies.
  Journal
Physiol Rev 82:945-80 (2002)
DOI:10.1152/physrev.00012.2002
Reference
  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
  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)
DOI:10.1097/GIM.0b013e3181f2481f
Reference
  Authors
Franciosi S
  Title
Nexilin: a potential novel factor contributing to dilated cardiomyopathy.
  Journal
Clin Genet 77:535-6 (2010)
DOI:10.1111/j.1399-0004.2010.01396_1.x
Reference
  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)
DOI:10.1038/ejhg.2010.83
Reference
  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)
DOI:10.1253/circj.CJ-08-0722
Reference
  Authors
Richard P, Villard E, Charron P, Isnard R
  Title
The Genetic Bases of Cardiomyopathies
  Journal
J Am Coll Cardiol 48:79-89 (2006)
DOI:10.1016/j.jacc.2006.09.014
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)
DOI:10.1136/jcp.2008.060731
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)
DOI:10.1016/j.autrev.2003.10.005
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)
DOI:10.1007/s00109-005-0664-2
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)
DOI:10.1016/S0140-6736(01)06657-0

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