{"orpha":99094,"name":"Laubry-Pezzi syndrome","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["VSD with aortic insufficiency","Ventricular septal defect with aortic insufficiency"],"definition":"Laubry-Pezzi syndrome is a rare, non-syndromic, congenital heart malformation characterized by the prolapse of an aortic valve cusp into a subjacent ventricular septal defect due to Venturi effect, resulting in aortic regurgitation. Patients typically present with symptoms of progressive aortic valve insufficiency, such as shortness of breath, heart palpitations, chest pain and exercise intolerance.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99094/","orphanet_url":"https://www.orpha.net/en/disease/detail/99094","names":{"fr":{"name":"Syndrome de Laubry-Pezzi","synonyms":["CIV avec insuffisance aortique","Communication interventriculaire avec insuffisance aortique"],"definition":"Une malformation congénitale rare, non syndromique, caractérisée par une régurgitation aortique causée par le prolapsus d'une valvule dans une communication interventriculaire sous-jacente par effet Venturi. Les patients présentent habituellement des signes d'insuffisance progressive de la valve aortique, comme une dyspnée, des palpitations cardiaques, une douleur thoracique et une intolérance à l'effort."},"de":{"name":"Laubry-Pezzi-Syndrom","synonyms":["VSD mit Aorteninsuffizienz","Ventrikelseptumdefekt und Aorteninsuffizienz"],"definition":"Das Laubry-Pezzi-Syndrom ist eine seltene, nicht-syndromale, angeborene Herzfehlbildung, die durch den Prolaps eines Aortenklappenhöckers in einen darunter liegenden Ventrikelseptumdefekt aufgrund des Venturi-Effekts gekennzeichnet ist und zu einer Aortenregurgitation führt. Die Patienten präsentieren sich typischerweise mit Symptomen einer fortschreitenden Aortenklappeninsuffizienz, wie Kurzatmigkeit, Herzklopfen, Brustschmerzen und Belastungsintoleranz."},"es":{"name":"Síndrome de Laubry-Pezzi","definition":"El síndrome de Laubry-Pezzi es una malformación cardíaca congénita, no sindrómica y poco frecuente, caracterizada por el prolapso de un velo de la válvula aórtica en una comunicación interventricular subyacente, debido al efecto Venturi, lo que provoca una insuficiencia aórtica. Los pacientes típicamente presentan síntomas de insuficiencia valvular aórtica progresiva, tales como dificultad respiratoria, palpitaciones cardiacas, dolor torácico e intolerancia al ejercicio."},"it":{"name":"Sindrome di Laubry-Pezzi","definition":"La sindrome di Laubry-Pezzi è una cardiopatia congenita rara non sindromica, caratterizzata dal prolasso di una cuspide della valvola aortica nel contesto di un difetto del setto ventricolare, dovuto all'effetto Venturi, che causa un rigurgito aortico. Di solito i pazienti presentano i sintomi dell'insufficienza progressiva della valvola aortica, come l'affanno, le palpitazioni cardiache, il dolore toracico e l'intolleranza all'esercizio fisico."},"nl":{"name":"Syndroom van Laubry-Pezzi","synonyms":["VSD met aorta-insufficiëntie","Ventrikelseptumdefect met aorta-insufficiëntie"],"definition":"Syndroom van Laubry-Pezzi is een zeldzame, niet-syndromale, congenitale hartmalformatie die gekarakteriseerd wordt door het verzakken van een slip van de aortaklep in een onderliggend ventrikelseptumdefect door het Venturi-effect, wat leidt tot aortaregurgitatie. Doorgaans vertonen patiënten symptomen van progressieve aortaklepinsufficiëntie, zoals kortademigheid, hartkloppingen, pijn in de borst en inspanningsintolerantie."},"pt":{"name":"Síndrome de Laubry-Pezzi"},"pl":{"name":"Zespół Laubry'ego i Pezziego","synonyms":["Ubytek przegrody międzykomorowej z niewydolnością aorty","VSD z niewydolnością aorty"]},"cs":{"name":"Laubryův-Pezziho syndrom","synonyms":["VSD s aortální insuficiencí","Defekt komorového septa s aortální insuficiencí","Laubry-Pezziho syndrom"]},"uk":{"name":"Синдром Лаубрі-Пецці","synonyms":["Дефект міжшлуночкової перегородки з аортальною недостатністю","VSD з аортальною недостатністю"],"definition":"Laubry-Pezzi syndrome is a rare, non-syndromic, congenital heart malformation characterized by the prolapse of an aortic valve cusp into a subjacent ventricular septal defect due to Venturi effect, resulting in aortic regurgitation. Patients typically present with symptoms of progressive aortic valve insufficiency, such as shortness of breath, heart palpitations, chest pain and exercise intolerance."},"zh":{"name":"Laubry-Pezzi综合征","synonyms":["VSD合并主动脉瓣关闭不全"],"definition":"Laubry-Pezzi综合征是一种罕见的非综合征性先天性心脏畸形，其特征是由于Venturi效应导致主动脉瓣尖端脱垂至下壁室间隔缺损，导致主动脉瓣关闭不全。患者通常表现为进行性主动脉瓣关闭不全的症状，如呼吸急促、心悸、胸痛和运动不耐受。"},"tr":{"name":"Laubry-Pezzi sendromu","synonyms":["Aort yetmezliği ile seyreden VSD","Aort yetmezliği ile seyreden ventriküler septal defekt"]}},"xrefs":[{"source":"ICD-10","code":"Q21.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA88.4Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0020427","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707235","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":474347,"name":"Rare congenital anomaly of ventricular septum","classifications":[147,148]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-10-26","source":"27076977[PMID]_31240196[PMID]_16638560[PMID]_25872409[PMID]","terms":[{"hpo":"HP:0001659","label":"Aortic regurgitation","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0031567","label":"Abnormal aortic valve cusp morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025578","label":"Aortic valve prolapse","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006704","label":"Abnormal coronary artery morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031668","label":"Diastolic heart murmur","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011645","label":"Dilatation of the sinus of Valsalva","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002875","label":"Exertional dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012663","label":"Mildly reduced ejection fraction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001962","label":"Palpitations","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011681","label":"Subarterial ventricular septal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004970","label":"Ascending tubular aorta aneurysm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100749","label":"Chest pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001712","label":"Left ventricular hypertrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011682","label":"Perimembranous ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001647","label":"Bicuspid aortic valve","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004890","label":"Elevated pulmonary artery pressure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001655","label":"Patent foramen ovale","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001705","label":"Right ventricular outlet tract obstruction","frequency":"Very rare (<4-1%)","criteria":null}]}}