| H01868 | |
| H number | H01868 |
| Name | Mitral valve prolapse |
| Description | 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. |
| Category | Cardiovascular disease |
| Network | - |
| Gene | (MVP2) DCHS1 [HSA:8642] [KO:K16507] (MVP3) DZIP1 [HSA:22873] [KO:K16470] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: BB62 ICD-10: I34.1 MeSH: D008945 OMIM: 157700 607829 610840 |
| Reference | PMID:24867995 AUTHORS Delling FN, Vasan RS TITLE Epidemiology and pathophysiology of mitral valve prolapse: new insights into disease progression, genetics, and molecular basis. JOURNAL Circulation 129:2158-70 (2014) DOI:10.1161/CIRCULATIONAHA.113.006702 PMID:17850623 AUTHORS Grau JB, Pirelli L, Yu PJ, Galloway AC, Ostrer H TITLE The genetics of mitral valve prolapse. JOURNAL Clin Genet 72:288-95 (2007) DOI:10.1111/j.1399-0004.2007.00865.x PMID:10387935 AUTHORS Freed LA, Levy D, Levine RA, Larson MG, Evans JC, Fuller DL, Lehman B, Benjamin EJ TITLE Prevalence and clinical outcome of mitral-valve prolapse. JOURNAL N Engl J Med 341:1-7 (1999) DOI:10.1056/NEJM199907013410101 PMID:26258302 (DCHS1) AUTHORS 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 TITLE Mutations in DCHS1 cause mitral valve prolapse. JOURNAL Nature 525:109-13 (2015) DOI:10.1038/nature14670 PMID:31118289 (DZIP1) AUTHORS 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 TITLE Primary cilia defects causing mitral valve prolapse. JOURNAL Sci Transl Med 11:eaax0290 (2019) DOI:10.1126/scitranslmed.aax0290 |