Entry
Name
Dilated cardiomyopathy - Homo sapiens (human)
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.
Class
Human Diseases; Cardiovascular disease
BRITE hierarchy
Pathway map
Ortholog table
Disease
Drug
D00255 Carvedilol (JP18/USP/INN)
D00634 Bisoprolol fumarate (JP18/USP)
D03415 Carvedilol phosphate (USAN)
Organism
Homo sapiens (human) [GN:
hsa ]
Gene
3674 ITGA2B; integrin subunit alpha 2b [KO:K06476 ]
8515 ITGA10; integrin subunit alpha 10 [KO:K06586 ]
7134 TNNC1; troponin C1, slow skeletal and cardiac type [KO:K05865 ]
70 ACTC1; actin alpha cardiac muscle 1 [KO:K12314 ]
4607 MYBPC3; myosin binding protein C3 [KO:K12568 ]
775 CACNA1C; calcium voltage-gated channel subunit alpha1 C [KO:K04850 ]
776 CACNA1D; calcium voltage-gated channel subunit alpha1 D [KO:K04851 ]
778 CACNA1F; calcium voltage-gated channel subunit alpha1 F [KO:K04853 ]
779 CACNA1S; calcium voltage-gated channel subunit alpha1 S [KO:K04857 ]
782 CACNB1; calcium voltage-gated channel auxiliary subunit beta 1 [KO:K04862 ]
783 CACNB2; calcium voltage-gated channel auxiliary subunit beta 2 [KO:K04863 ]
784 CACNB3; calcium voltage-gated channel auxiliary subunit beta 3 [KO:K04864 ]
785 CACNB4; calcium voltage-gated channel auxiliary subunit beta 4 [KO:K04865 ]
781 CACNA2D1; calcium voltage-gated channel auxiliary subunit alpha2delta 1 [KO:K04858 ]
9254 CACNA2D2; calcium voltage-gated channel auxiliary subunit alpha2delta 2 [KO:K04859 ]
55799 CACNA2D3; calcium voltage-gated channel auxiliary subunit alpha2delta 3 [KO:K04860 ]
93589 CACNA2D4; calcium voltage-gated channel auxiliary subunit alpha2delta 4 [KO:K04861 ]
786 CACNG1; calcium voltage-gated channel auxiliary subunit gamma 1 [KO:K04866 ]
10369 CACNG2; calcium voltage-gated channel auxiliary subunit gamma 2 [KO:K04867 ]
10368 CACNG3; calcium voltage-gated channel auxiliary subunit gamma 3 [KO:K04868 ]
27092 CACNG4; calcium voltage-gated channel auxiliary subunit gamma 4 [KO:K04869 ]
27091 CACNG5; calcium voltage-gated channel auxiliary subunit gamma 5 [KO:K04870 ]
59285 CACNG6; calcium voltage-gated channel auxiliary subunit gamma 6 [KO:K04871 ]
59284 CACNG7; calcium voltage-gated channel auxiliary subunit gamma 7 [KO:K04872 ]
59283 CACNG8; calcium voltage-gated channel auxiliary subunit gamma 8 [KO:K04873 ]
487 ATP2A1; ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 [KO:K05853 ] [EC:7.2.2.10 ]
489 ATP2A3; ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 [KO:K05853 ] [EC:7.2.2.10 ]
488 ATP2A2; ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 [KO:K05853 ] [EC:7.2.2.10 ]
6546 SLC8A1; solute carrier family 8 member A1 [KO:K05849 ]
6543 SLC8A2; solute carrier family 8 member A2 [KO:K05849 ]
6547 SLC8A3; solute carrier family 8 member A3 [KO:K05849 ]
3479 IGF1; insulin like growth factor 1 [KO:K05459 ]
7040 TGFB1; transforming growth factor beta 1 [KO:K13375 ]
7042 TGFB2; transforming growth factor beta 2 [KO:K13376 ]
7043 TGFB3; transforming growth factor beta 3 [KO:K13377 ]
Compound
Reference
Authors
Fatkin D, Graham RM
Title
Molecular mechanisms of inherited cardiomyopathies.
Journal
Reference
Authors
Lappe JM, Pelfrey CM, Tang WH
Title
Recent insights into the role of autoimmunity in idiopathic dilated cardiomyopathy.
Journal
Reference
Authors
Zhao P, Sharma AC, Ren J
Title
Pathogenesis and therapy of autoimmunity-induced dilated cardiomyopathy.
Journal
Reference
Authors
Franz WM, Muller OJ, Katus HA
Title
Cardiomyopathies: from genetics to the prospect of treatment.
Journal
Reference
Authors
Towbin JA, Bowles NE
Title
The failing heart.
Journal
Reference
Authors
Luk A, Ahn E, Soor GS, Butany J
Title
Dilated cardiomyopathy: a review.
Journal
Reference
Authors
Yoshikawa T, Baba A, Nagatomo Y
Title
Autoimmune mechanisms underlying dilated cardiomyopathy.
Journal
Reference
Authors
Mason JW
Title
Myocarditis and dilated cardiomyopathy: an inflammatory link.
Journal
Reference
Authors
Jahns R, Boivin V, Hein L, Triebel S, Angermann CE, Ertl G, Lohse MJ
Title
Direct evidence for a beta 1-adrenergic receptor-directed autoimmune attack as a cause of idiopathic dilated cardiomyopathy.
Journal
Reference
Authors
Liu PP, Mason JW
Title
Advances in the understanding of myocarditis.
Journal
Reference
Authors
Tam PE
Title
Coxsackievirus myocarditis: interplay between virus and host in the pathogenesis of heart disease.
Journal
Related pathway
KO pathway
LinkDB
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