{"orpha":741,"name":"Familial mitral valve prolapse","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare familial congenital mitral malformation characterized by systolic displacement of one or both mitral leaflets >2 mm beyond the annular plane into the left atrium. Typical histological findings include myxomatous degeneration and degradation of collagen and elastin. Patients may remain asymptomatic or develop complications such as severe mitral regurgitation, endocarditis, and heart failure.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-741/","orphanet_url":"https://www.orpha.net/en/disease/detail/741","names":{"fr":{"name":"Prolapsus valvulaire mitral familial","definition":"Prolapsus valvulaire mitral familial rare caractérisé par le déplacement systolique de l'un ou des deux feuillets valvulaires de plus de 2 mm en arrière du plan de l'anneau, mitral dans l'oreillette gauche. L'examen histologique met typiquement en évidence une dégénérescence myxomateuse et une dégradation du collagène et de l'élastine. Les patients peuvent rester asymptomatiques ou développer des complications telles qu'une régurgitation mitrale sévère, une endocardite et une insuffisance cardiaque."},"de":{"name":"Mitralklappenprolaps, familiärer","definition":"Eine seltene familiäre kongenitale Fehlbildung der Mitralklappe, die durch eine systolische Verlagerung eines oder beider Mitralflügel >2 mm über die Anularebene hinaus in den linken Vorhof gekennzeichnet ist. Typische histologische Befunde sind myxomatöse Degeneration und Abbau von Kollagen und Elastin. Die Patienten können asymptomatisch bleiben oder Komplikationen wie eine schwere Mitralinsuffizienz, Endokarditis und Herzinsuffizienz entwickeln."},"es":{"name":"Prolapso valvular mitral familiar","definition":"Es una malformación mitral congénita familiar poco frecuente caracterizada por el desplazamiento sistólico de una o ambas valvas mitrales >2 mm del plano anular hacia la aurícula izquierda. Los hallazgos histológicos típicos incluyen degeneración mixomatosa y degradación del colágeno y de la elastina. Los pacientes pueden ser asintomáticos o desarrollar complicaciones como insuficiencia mitral grave, endocarditis e insuficiencia cardíaca."},"it":{"name":"Prolasso familiare della valvola mitrale","definition":"Si tratta di una malformazione congenita familiare rara della valvola mitrale, caratterizzata dalla dislocazione sistolica superiore a 2 mm di uno o di entrambi i lembi mitralici oltre il piano anulare verso l'atrio sinistro. Di solito l'esame istologico evidenzia la degenerazione mixomatosa e la degradazione del collagene e dell'elastina. I pazienti possono essere asintomatici o sviluppare complicanze (rigurgito mitralico grave, endocardite e insufficienza cardiaca)."},"nl":{"name":"Familiale mitralisklepprolaps","definition":"Een zeldzame familiale congenitale malformatie van mitralisklep, gekarakteriseerd door systolische dislocatie van een of beide klepbladen van mitralisklep over een afstand van meer dan 2 mm voorbij het annulaire vlak in het linkeratrium. Typische histologische bevindingen zijn onder meer myxomateuze degeneratie en degradatie van collageen en elastine. Patiënten kunnen asymptomatisch blijven of complicaties ontwikkelen zoals ernstige mitralisklepregurgitatie, endocarditis, en hartfalen."},"pt":{"name":"Prolapso da válvula mitral familiar"},"pl":{"name":"Rodzinne wypadanie płatka zastawki mitralnej"},"cs":{"name":"Familiární prolaps mitrální chlopně"},"uk":{"name":"Сімейний пролапс мітрального клапана","definition":"A rare familial congenital mitral malformation characterized by systolic displacement of one or both mitral leaflets >2 mm beyond the annular plane into the left atrium. Typical histological findings include myxomatous degeneration and degradation of collagen and elastin. Patients may remain asymptomatic or develop complications such as severe mitral regurgitation, endocarditis, and heart failure."},"zh":{"name":"家族性二尖瓣脱垂"},"tr":{"name":"Ailesel mitral kapak prolapsusu"}},"xrefs":[{"source":"OMIM","code":"157700","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"607829","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610840","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"I34.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA87.1Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008004","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0340364","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3687","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":95464,"name":"Congenital mitral valve insufficiency and/or stenosis","classifications":[147,148]},{"orpha":271853,"name":"Genetic cardiac anomaly","classifications":[156]}],"children":[],"genes":[{"symbol":"DCHS1","name":"dachsous cadherin-related 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26258302[PMID]","hgnc":"13681","ensembl":"ENSG00000166341","omim":"603057","loci":["11p15.4"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}