KEGG   DISEASE: Dilated cardiomyopathy (DCM)Help
H00294                      Disease                                

Dilated cardiomyopathy (DCM)
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.
Cardiovascular disease
Human diseases [BR:br08402]
 Cardiovascular diseases
  Cardiac diseases
   H00294  Dilated cardiomyopathy (DCM)
Human diseases in ICD-10 classification [BR:br08403]
 9. Diseases of the circulatory system (I00-I99)
  I30-I52  Other forms of heart disease
   I42  Cardiomyopathy
    H00294  Dilated cardiomyopathy (DCM)
BRITE hierarchy
Dilated cardiomyopathy
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]
Low oxygen [CPD:C00007]
Coxsackievirus B3
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
Virus-specific IgM class antibodies
Other DBs
PMID:12270949 (gene)
Fatkin D, Graham RM
Molecular mechanisms of inherited cardiomyopathies.
Physiol Rev 82:945-80 (2002)
PMID:12844200 (gene)
Moolman-Smook JC, Mayosi BM, Brink PA, Corfield VA
Molecular genetics of cardiomyopathy: changing times, shifting paradigms.
Cardiovasc J S Afr 14:145-55 (2003)
PMID:20864896 (gene)
Hershberger RE, Morales A, Siegfried JD
Clinical and genetic issues in dilated cardiomyopathy: a review for genetics professionals.
Genet Med 12:655-67 (2010)
PMID:20236114 (gene)
Franciosi S
Nexilin: a potential novel factor contributing to dilated cardiomyopathy.
Clin Genet 77:535-6 (2010)
PMID:20551992 (gene)
Levitas A, Muhammad E, Harel G, Saada A, Caspi VC, Manor E, Beck JC, Sheffield V, Parvari R
Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase.
Eur J Hum Genet 18:1160-5 (2010)
PMID:19015585 (gene)
Arimura T, Hayashi YK, Murakami T, Oya Y, Funabe S, Arikawa-Hirasawa E, Hattori N, Nishino I, Kimura A
Mutational analysis of fukutin gene in dilated cardiomyopathy and hypertrophic cardiomyopathy.
Circ J 73:158-61 (2009)
Richard P, Villard E, Charron P, Isnard R
The Genetic Bases of Cardiomyopathies
J Am Coll Cardiol 48:79-89 (2006)
PMID:19017683 (env_factor, marker, drug)
Luk A, Ahn E, Soor GS, Butany J
Dilated cardiomyopathy: a review.
J Clin Pathol 62:219-25 (2009)
PMID:15246023 (env_factor, drug)
Mobini R, Maschke H, Waagstein F
New insights into the pathogenesis of dilated cardiomyopathy: possible underlying autoimmune mechanisms and therapy.
Autoimmun Rev 3:277-84 (2004)
PMID:15931504 (env_factor)
Poller W, Kuhl U, Tschoepe C, Pauschinger M, Fechner H, Schultheiss HP
Genome-environment interactions in the molecular pathogenesis of dilated cardiomyopathy.
J Mol Med 83:579-86 (2005)
PMID:11716909 (drug)
Franz WM, Muller OJ, Katus HA
Cardiomyopathies: from genetics to the prospect of treatment.
Lancet 358:1627-37 (2001)

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