H01219 | |
H number | H01219 |
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 |
Network | - |
Gene | (RCM1) TNNI3 [HSA:7137] [KO:K12044] (RCM3) TNNT2 [HSA:7139] [KO:K12045] (RCM4) MYPN [HSA:84665] [KO:K22028] (RCM5) FLNC [HSA:2318] [KO:K04437] (RCM6) KIF20A [HSA:10112] [KO:K10402] DES [HSA:1674] [KO:K07610] ACTC1 [HSA:70] [KO:K12314] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: BC43.2 ICD-10: I42 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 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 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 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 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 PMID:18646564 (DES) AUTHORS Arimura T, Hayashi T, Kimura A TITLE Molecular etiology of idiopathic cardiomyopathy. JOURNAL Acta Myol 26:153-8 (2007) 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 |