KEGG DISEASE: Restrictive cardiomyopathy

KEGG

DISEASE: Restrictive cardiomyopathy

Entry

H01219                      Disease

Name

Restrictive cardiomyopathy

Description

Restrictive cardiomyopathy (RCM) is an uncommon heart muscle disorder characterized by impaired ventricular filling and increased stiffness of the myocardium with diastolic dysfunction, resulting in atrial enlargement and elevated systemic and pulmonary venous pressure. To date, mutations have been identified in the cardiac genes.

Category

Cardiovascular disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
11 Diseases of the circulatory system
  Diseases of the myocardium or cardiac chambers
   BC43  Cardiomyopathy
    H01219  Restrictive cardiomyopathy
Pathway-based classification of diseases [BR:br08402]
Cellular processes
  nt06539  Cytoskeleton in muscle cells
   H01219  Restrictive cardiomyopathy

Pathway

Cytoskeleton in muscle cells

Cardiac muscle contraction

Network

nt06539 Cytoskeleton in muscle cells

Gene

(RCM1) TNNI3 [HSA:7137] [KO:K12044]
(RCM3) TNNT2 [HSA:7139] [KO:K12045]
(RCM4) MYPN [HSA:84665] [KO:K22028]
(RCM5) FLNC [HSA:2318] [KO:K27393]
(RCM6) KIF20A [HSA:10112] [KO:K10402]
DES [HSA:1674] [KO:K07610]
ACTC1 [HSA:70] [KO:K12314]

Other DBs

ICD-11:

MeSH:

OMIM:

115210 612422 615248 617047 619433

Reference

PMID:20617149 (RCM1, RCM3)

Authors

Parvatiyar MS, Pinto JR, Dweck D, Potter JD

Title

Cardiac troponin mutations and restrictive cardiomyopathy.

Journal

J Biomed Biotechnol 2010:350706 (2010)
DOI:10.1155/2010/350706

Reference

PMID:15201162 (RCM1, RCM3)

Authors

Gomes AV, Potter JD

Title

Molecular and cellular aspects of troponin cardiomyopathies.

Journal

Ann N Y Acad Sci 1015:214-24 (2004)
DOI:10.1196/annals.1302.018

Reference

PMID:22286171 (RCM4)

Authors

Purevjav E, Arimura T, Augustin S, Huby AC, Takagi K, Nunoda S, Kearney DL, Taylor MD, Terasaki F, Bos JM, Ommen SR, Shibata H, Takahashi M, Itoh-Satoh M, McKenna WJ, Murphy RT, Labeit S, Yamanaka Y, Machida N, Park JE, Alexander PM, Weintraub RG, Kitaura Y, Ackerman MJ, Kimura A, Towbin JA

Title

Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations.

Journal

Hum Mol Genet 21:2039-53 (2012)
DOI:10.1093/hmg/dds022

Reference

PMID:26666891 (RCM5)

Authors

Brodehl A, Ferrier RA, Hamilton SJ, Greenway SC, Brundler MA, Yu W, Gibson WT, McKinnon ML, McGillivray B, Alvarez N, Giuffre M, Schwartzentruber J, Gerull B

Title

Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy.

Journal

Hum Mutat 37:269-79 (2016)
DOI:10.1002/humu.22942

Reference

PMID:29357359 (RCM6)

Authors

Louw JJ, Nunes Bastos R, Chen X, Verdood C, Corveleyn A, Jia Y, Breckpot J, Gewillig M, Peeters H, Santoro MM, Barr F, Devriendt K

Title

Compound heterozygous loss-of-function mutations in KIF20A are associated with a novel lethal congenital cardiomyopathy in two siblings.

Journal

PLoS Genet 14:e1007138 (2018)
DOI:10.1371/journal.pgen.1007138

Reference

PMID:18646564 (DES)

Authors

Arimura T, Hayashi T, Kimura A

Title

Molecular etiology of idiopathic cardiomyopathy.

Journal

Acta Myol 26:153-8 (2007)

Reference

PMID:18467357 (ACTC)

Authors

Kaski JP, Syrris P, Burch M, Tome-Esteban MT, Fenton M, Christiansen M, Andersen PS, Sebire N, Ashworth M, Deanfield JE, McKenna WJ, Elliott PM

Title

Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes.

Journal

Heart 94:1478-84 (2008)
DOI:10.1136/hrt.2007.134684

LinkDB

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