| H01868 | |
| H番号 | H01868 |
| 名称 | 僧帽弁逸脱症 |
| 概要 | Mitral valve prolapse (MVP) is a very common clinical condition that refers to a systolic billowing of one or both mitral valve leaflets into the left atrium. MVP can be associated with significant mitral regurgitation (MR), bacterial endocarditis, congestive heart failure, and even sudden death. According to the presently used echocardiographic criteria, MVP is defined as an upward displacement of the mitral leaflets that exceeds 2 mm during diastole. In classical MVP, the leaflets' maximal thickness is >5 mm, whereas in non-classical MVP it remains <5 mm. MVP may or may not have associated mitral regurgitation. MVP can be distinguished into primary or nonsyndromic MVP and secondary or syndromic MVP. In the latter case, MVP occurs in the presence of connective tissue disorders such as Marfan syndrome (MFS) [DS:H00653], Loeys-Dietz syndrome [DS:H00800], Ehlers-Danlos syndrome [DS:H00802], and osteogenesis imperfecta [DS:H00506]. Nonsyndromic MVP can be sporadic or familial, demonstrating autosomal dominant and X-linked inheritance. Three different loci on chromosomes 16, 11 and 13 have been found to be linked to MVP. Another locus on chromosome X has been found to cosegregate with a rare form of MVP called X-linked myxomatous valvular dystrophy. |
| カテゴリ | 循環器系疾患 |
| ネットワーク | - |
| 病因遺伝子 | (MVP2) DCHS1 [HSA:8642] [KO:K16507] (MVP3) DZIP1 [HSA:22873] [KO:K16470] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: BB62 ICD-10: I34.1 MeSH: D008945 OMIM: 157700 607829 610840 |
| 文献 | PMID:24867995 著者 Delling FN, Vasan RS タイトル Epidemiology and pathophysiology of mitral valve prolapse: new insights into disease progression, genetics, and molecular basis. 雑誌 Circulation 129:2158-70 (2014) DOI:10.1161/CIRCULATIONAHA.113.006702 PMID:17850623 著者 Grau JB, Pirelli L, Yu PJ, Galloway AC, Ostrer H タイトル The genetics of mitral valve prolapse. 雑誌 Clin Genet 72:288-95 (2007) DOI:10.1111/j.1399-0004.2007.00865.x PMID:10387935 著者 Freed LA, Levy D, Levine RA, Larson MG, Evans JC, Fuller DL, Lehman B, Benjamin EJ タイトル Prevalence and clinical outcome of mitral-valve prolapse. 雑誌 N Engl J Med 341:1-7 (1999) DOI:10.1056/NEJM199907013410101 PMID:26258302 (DCHS1) 著者 Durst R, Sauls K, Peal DS, deVlaming A, Toomer K, Leyne M, Salani M, Talkowski ME, Brand H, Perrocheau M, Simpson C, Jett C, Stone MR, Charles F, Chiang C, Lynch SN, Bouatia-Naji N, Delling FN, Freed LA, Tribouilloy C, Le Tourneau T, LeMarec H, Fernandez-Friera L, Solis J, Trujillano D, Ossowski S, Estivill X, Dina C, Bruneval P, Chester A, Schott JJ, Irvine KD, Mao Y, Wessels A, Motiwala T, Puceat M, Tsukasaki Y, Menick DR, Kasiganesan H, Nie X, Broome AM, Williams K, Johnson A, Markwald RR, Jeunemaitre X, Hagege A, Levine RA, Milan DJ, Norris RA, Slaugenhaupt SA タイトル Mutations in DCHS1 cause mitral valve prolapse. 雑誌 Nature 525:109-13 (2015) DOI:10.1038/nature14670 PMID:31118289 (DZIP1) 著者 Toomer KA, Yu M, Fulmer D, Guo L, Moore KS, Moore R, Drayton KD, Glover J, Peterson N, Ramos-Ortiz S, Drohan A, Catching BJ, Stairley R, Wessels A, Lipschutz JH, Delling FN, Jeunemaitre X, Dina C, Collins RL, Brand H, Talkowski ME, Del Monte F, Mukherjee R, Awgulewitsch A, Body S, Hardiman G, Hazard ES, da Silveira WA, Wang B, Leyne M, Durst R, Markwald RR, Le Scouarnec S, Hagege A, Le Tourneau T, Kohl P, Rog-Zielinska EA, Ellinor PT, Levine RA, Milan DJ, Schott JJ, Bouatia-Naji N, Slaugenhaupt SA, Norris RA タイトル Primary cilia defects causing mitral valve prolapse. 雑誌 Sci Transl Med 11:eaax0290 (2019) DOI:10.1126/scitranslmed.aax0290 |