Entry
Name
Dilated cardiomyopathy - Nannospalax galili (Upper Galilee mountains blind mole rat)
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
Organism
Nannospalax galili (Upper Galilee mountains blind mole rat) [GN:
ngi ]
Gene
103751925 putative V-set and immunoglobulin domain-containing-like protein IGHV4OR15-8 [KO:K06856 ]
103726091 putative V-set and immunoglobulin domain-containing-like protein IGHV4OR15-8 [KO:K06856 ]
103739378 Cacna1c; calcium voltage-gated channel subunit alpha1 C [KO:K04850 ]
103749025 Cacna1d; calcium voltage-gated channel subunit alpha1 D [KO:K04851 ]
103741673 Cacna1f; calcium voltage-gated channel subunit alpha1 F [KO:K04853 ]
103731814 Cacna1s; calcium voltage-gated channel subunit alpha1 S [KO:K04857 ]
103743810 Cacnb1; calcium voltage-gated channel auxiliary subunit beta 1 [KO:K04862 ]
103726514 Cacnb2; calcium voltage-gated channel auxiliary subunit beta 2 [KO:K04863 ]
103750559 Cacnb3; calcium voltage-gated channel auxiliary subunit beta 3 [KO:K04864 ]
103738122 Cacnb4; calcium voltage-gated channel auxiliary subunit beta 4 [KO:K04865 ]
103730725 Cacna2d1; calcium voltage-gated channel auxiliary subunit alpha2delta 1 [KO:K04858 ]
103750148 Cacna2d2; calcium voltage-gated channel auxiliary subunit alpha2delta 2 [KO:K04859 ]
103749031 Cacna2d3; calcium voltage-gated channel auxiliary subunit alpha2delta 3 [KO:K04860 ]
103739384 Cacna2d4; calcium voltage-gated channel auxiliary subunit alpha2delta 4 [KO:K04861 ]
103742198 Cacng1; calcium voltage-gated channel auxiliary subunit gamma 1 [KO:K04866 ]
103748628 Cacng2; calcium voltage-gated channel auxiliary subunit gamma 2 [KO:K04867 ]
103746927 Cacng3; calcium voltage-gated channel auxiliary subunit gamma 3 [KO:K04868 ]
103742200 Cacng4; calcium voltage-gated channel auxiliary subunit gamma 4 [KO:K04869 ]
103742201 Cacng5; calcium voltage-gated channel auxiliary subunit gamma 5 [KO:K04870 ]
103729669 Cacng6; calcium voltage-gated channel auxiliary subunit gamma 6 [KO:K04871 ]
103729667 Cacng7; calcium voltage-gated channel auxiliary subunit gamma 7 [KO:K04872 ]
103729702 Cacng8; calcium voltage-gated channel auxiliary subunit gamma 8 [KO:K04873 ]
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
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