| H01219 | |
| H番号 | H01219 |
| 名称 | 拘束性心筋症 |
| 概要 | 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. |
| カテゴリ | 循環器系疾患 |
| ネットワーク | - |
| 病因遺伝子 | (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] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: BC43.2 ICD-10: I42 OMIM: 115210 612422 615248 617047 619433 |
| 文献 | PMID:20617149 (RCM1, RCM3) 著者 Parvatiyar MS, Pinto JR, Dweck D, Potter JD タイトル Cardiac troponin mutations and restrictive cardiomyopathy. 雑誌 J Biomed Biotechnol 2010:350706 (2010) DOI:10.1155/2010/350706 PMID:15201162 (RCM1, RCM3) 著者 Gomes AV, Potter JD タイトル Molecular and cellular aspects of troponin cardiomyopathies. 雑誌 Ann N Y Acad Sci 1015:214-24 (2004) DOI:10.1196/annals.1302.018 PMID:22286171 (RCM4) 著者 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 タイトル Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations. 雑誌 Hum Mol Genet 21:2039-53 (2012) DOI:10.1093/hmg/dds022 PMID:26666891 (RCM5) 著者 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 タイトル Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy. 雑誌 Hum Mutat 37:269-79 (2016) DOI:10.1002/humu.22942 PMID:29357359 (RCM6) 著者 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 タイトル Compound heterozygous loss-of-function mutations in KIF20A are associated with a novel lethal congenital cardiomyopathy in two siblings. 雑誌 PLoS Genet 14:e1007138 (2018) DOI:10.1371/journal.pgen.1007138 PMID:18646564 (DES) 著者 Arimura T, Hayashi T, Kimura A タイトル Molecular etiology of idiopathic cardiomyopathy. 雑誌 Acta Myol 26:153-8 (2007) PMID:18467357 (ACTC) 著者 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 タイトル Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes. 雑誌 Heart 94:1478-84 (2008) DOI:10.1136/hrt.2007.134684 |