Entry Name Dilated cardiomyopathy
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 diseaseBRITE hierarchy
Pathway map Disease Orthology K03156 TNF, TNFA; tumor necrosis factor superfamily, member 2
K04141 ADRB1; adrenergic receptor beta-1
K04632 GNAS; guanine nucleotide-binding protein G(s) subunit alpha
K04850 CACNA1C, CAV1.2; voltage-dependent calcium channel L type alpha-1C
K04851 CACNA1D, CAV1.3; voltage-dependent calcium channel L type alpha-1D
K04853 CACNA1F, CAV1.4; voltage-dependent calcium channel L type alpha-1F
K04857 CACNA1S, CAV1.1; voltage-dependent calcium channel L type alpha-1S
K04858 CACNA2D1; voltage-dependent calcium channel alpha-2/delta-1
K04859 CACNA2D2; voltage-dependent calcium channel alpha-2/delta-2
K04860 CACNA2D3; voltage-dependent calcium channel alpha-2/delta-3
K04861 CACNA2D4; voltage-dependent calcium channel alpha-2/delta-4
K04862 CACNB1; voltage-dependent calcium channel beta-1
K04863 CACNB2; voltage-dependent calcium channel beta-2
K04864 CACNB3; voltage-dependent calcium channel beta-3
K04865 CACNB4; voltage-dependent calcium channel beta-4
K04866 CACNG1; voltage-dependent calcium channel gamma-1
K04867 CACNG2; voltage-dependent calcium channel gamma-2
K04868 CACNG3; voltage-dependent calcium channel gamma-3
K04869 CACNG4; voltage-dependent calcium channel gamma-4
K04870 CACNG5; voltage-dependent calcium channel gamma-5
K04871 CACNG6; voltage-dependent calcium channel gamma-6
K04872 CACNG7; voltage-dependent calcium channel gamma-7
K04873 CACNG8; voltage-dependent calcium channel gamma-8
K04962 RYR2; ryanodine receptor 2
K05459 IGF1; insulin-like growth factor 1
K05637 LAMA1_2; laminin, alpha 1/2
K05692 ACTB_G1; actin beta/gamma 1
K05719 ITGB1, CD29; integrin beta 1
K05849 SLC8A, NCX; solute carrier family 8 (sodium/calcium exchanger)
K05865 TNNC1; troponin C, slow skeletal and cardiac muscles
K06476 ITGA2B, CD41; integrin alpha 2B
K06480 ITGA1, CD49a; integrin alpha 1
K06481 ITGA2, CD49b; integrin alpha 2
K06482 ITGA3, CD49c; integrin alpha 3
K06483 ITGA4, CD49d; integrin alpha 4
K06484 ITGA5, CD49e; integrin alpha 5
K06485 ITGA6, CD49f; integrin alpha 6
K06487 ITGAV, CD51; integrin alpha V
K06493 ITGB3, CD61; integrin beta 3
K06525 ITGB4, CD104; integrin beta 4
K06583 ITGA7; integrin alpha 7
K06584 ITGA8; integrin alpha 8
K06585 ITGA9; integrin alpha 9
K06586 ITGA10; integrin alpha 10
K06587 ITGA11; integrin alpha 11
K06856 IGH; immunoglobulin heavy chain
K09821 AGT, SERPINA8; angiotensinogen
K10351 MYL2; myosin regulatory light chain 2
K12044 TNNI3; troponin I, cardiac muscle
K12045 TNNT2; troponin T, cardiac muscle
K12314 ACTC1; actin, alpha cardiac muscle
K12563 SGCD; delta-sarcoglycan
K12564 SGCG; gamma-sarcoglycan
K12565 SGCA; alpha-sarcoglycan
K12568 MYBPC3; myosin-binding protein C, cardiac-type
K12749 MYL3; myosin light chain 3
K13375 TGFB1; transforming growth factor beta-1
K13376 TGFB2; transforming growth factor beta-2
K13377 TGFB3; transforming growth factor beta-3
K17751 MYH6_7; myosin heavy chain 6/7
K26998 DTNA; dystrobrevin alpha
K27061 SGCE; epsilon-sarcoglycan
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
