{"orpha":98723,"name":"Hypoplastic right heart syndrome","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":"A rare, cyanotic congenital heart malformation caused by underdevelopment of the right-sided heart structures (tricuspid valve, RV, pulmonary valve, and pulmonary artery) commonly associated with an atrial septal defect, ostium secundum type. Pulmonary blood flow is diminished and right-to-left shunting occurs at the atrial level, leading to dyspnea, fatigue, atrial arrhythmias, right-sided heart failure, hypoxemia, repeated miscarriages that were mostly due to hypoxemia and cyanosis. Two subtypes of HRHS have been characterized: pulmonary atresia-intact ventricular septum and right ventricular hypoplasia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98723/","orphanet_url":"https://www.orpha.net/en/disease/detail/98723","names":{"fr":{"name":"Syndrome du coeur droit hypoplasique","definition":"Malformation cardiaque congénitale cyanotique rare causée par le sous-développement des structures cardiaques droites (valve tricuspide, ventricule droit, valve pulmonaire et artère pulmonaire), communément associé à une anomalie du septum atrial type ostium secundum. Le flux sanguin pulmonaire est diminué et un shunt droite-gauche survient au niveau auriculaire, conduisant à une dyspnée, une fatigue, des arythmies auriculaires, une insuffisance cardiaque droite, une hypoxémie, des fausses couches répétées, le plus souvent dues à l'hypoxémie et à la cyanose. Deux sous-types de syndrome ont été caractérisés: l'atrésie pulmonaire-septum ventriculaire intact et l'hypoplasie ventriculaire droite isolée."},"de":{"name":"Hypoplastisches Rechtsherzsyndrom","definition":"Eine zyanotische kongenitale Herzfehlbildung, die durch eine Unterentwicklung der Strukturen des rechten Herzens (Trikuspidalklappe, rechte Herzkammer, Pulmonalklappe und Lungenarterie) verursacht wird und häufig mit einem Vorhofseptumdefekt vom Typ Ostium secundum (siehe dort) einhergeht. Der Blutfluss in der Lunge ist vermindert und es kommt zu einem Rechts-Links-Shunt auf Vorhofebene, was zu Atemnot, Müdigkeit, Vorhofarrhythmien, Rechtsherzversagen, Hypoxämie und wiederholten Fehlgeburten führt, die meist auf Hypoxämie und Zyanose zurückzuführen sind. Es wurden zwei Subtypen von HRHS charakterisiert: Pulmonale Atresie mit intaktem Ventrikelseptum und rechtsventrikuläre Hypoplasie."},"es":{"name":"Síndrome de corazón derecho hipoplásico","definition":"Es una malformación cardíaca congénita cianótica poco frecuente por infradesarrollo de las estructuras del lado derecho del corazón (válvula tricúspide, VD, válvula pulmonar y arteria pulmonar) comúnmente asociada con una comunicación interauricular tipo ostium secundum. El flujo sanguíneo pulmonar está disminuido y se produce un cortocircuito de derecha a izquierda a nivel auricular, lo que resulta en disnea, cansancio, arritmias auriculares, insuficiencia cardíaca derecha, hipoxemia y abortos repetidos debidos principalmente a hipoxemia y cianosis. Se han caracterizado dos subtipos de HRHS: atresia pulmonar con septo ventricular intacto e hipoplasia ventricular derecha."},"it":{"name":"Sindrome del cuore destro ipoplasico"},"nl":{"name":"Hypoplastisch rechterhart-syndroom","synonyms":["HRHS"],"definition":"Een zeldzame, cyanotische congenitale hartmalformatie veroorzaakt door onderontwikkeling van rechtszijdige structuren van hart (tricuspidalisklep, rechterventrikel, pulmonalisklep, en longslagader), doorgaans geassocieerd met atriumseptumdefect, ostium secundum-type. Pulmonale bloedstroom is gereduceerd en rechts-linksshunt treedt op ter hoogte van atrium, wat leidt tot dyspneu, vermoeidheid, atriale aritmie, rechtszijdig hartfalen, hypoxemie, en herhaaldelijke miskramen meestal te wijten aan hypoxemie en cyanose. Twee subtypes van hypoplastisch rechterhart-syndroom (HRHS) werden gekarakteriseerd: pulmonale atresie - intact ventrikelseptum-syndroom en hypoplasie van rechterventrikel."},"pt":{"name":"Síndrome do coração direito hipoplásico"},"pl":{"name":"Zespół hipoplazji prawego serca","definition":"Rzadka, sinicza wrodzona wada serca spowodowana niedorozwojem struktur prawej części serca (zastawki trójdzielnej, prawej komory, zastawki tętnicy płucnej oraz tętnicy płucnej), często związana z ubytkiem przegrody międzyprzedsionkowej typu ostium secundum (zobacz ten termin). Płucny przepływ krwi jest zmniejszony, a na poziomie przedsionków dochodzi do przecieku prawo-lewego, co prowadzi do duszności, zmęczenia, zaburzeń rytmu pochodzenia przedsionkowego, prawokomorowej niewydolności serca, hipoksemii, powtarzających się poronień, głównie wskutek niedotlenienia i sinicy. Scharakteryzowano dwa podtypy zespołu niedorozwoju prawej części serca: zarośnięcie płuc z nienaruszoną przegrodą międzykomorową oraz hipoplazję prawej komory."},"cs":{"name":"Syndrom hypoplastického pravého srdce"},"uk":{"name":"Синдром гіпоплазії правих камер серця","definition":"A rare, cyanotic congenital heart malformation caused by underdevelopment of the right-sided heart structures (tricuspid valve, RV, pulmonary valve, and pulmonary artery) commonly associated with an atrial septal defect, ostium secundum type. Pulmonary blood flow is diminished and right-to-left shunting occurs at the atrial level, leading to dyspnea, fatigue, atrial arrhythmias, right-sided heart failure, hypoxemia, repeated miscarriages that were mostly due to hypoxemia and cyanosis. Two subtypes of HRHS have been characterized: pulmonary atresia-intact ventricular septum and right ventricular hypoplasia."},"zh":{"name":"右心发育不全综合征","definition":"右心发育不良综合征(HRHS)是一种罕见的青紫型先天性心脏畸形，由右侧心脏结构(三尖瓣、右室、肺动脉和肺动脉)发育不良引起，通常伴有房间隔缺损、继发孔型(见该词条)。肺血流量减少，心房水平出现从右向左的分流，导致呼吸困难、疲劳、房性心律失常、右心衰竭、低氧血症、由低氧血症及紫绀导致的反复流产。HRHS有两种亚型：肺动脉闭锁完整的室间隔和右室发育不良(见这些术语)。"},"tr":{"name":"Hipoplastik sağ kalp sendromu"}},"xrefs":[{"source":"ICD-10","code":"Q22.6","qualifier":"E","icd_relation":"specific","validated":true},{"source":"MONDO","code":"0020291","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0344963","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2922","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10064962","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":95483,"name":"Univentricular cardiopathy","classifications":[147,148]}],"children":[{"orpha":439,"name":"Isolated right ventricular hypoplasia","type":"Morphological anomaly"},{"orpha":1208,"name":"Pulmonary atresia-intact ventricular septum syndrome","type":"Morphological anomaly"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.9,"area":"United Kingdom","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":9.5,"area":"Ukraine","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.6,"area":"Spain","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.3,"area":"Europe","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.9,"area":"Belgium","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":19.8,"area":"Denmark","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.0,"area":"France","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":5.8,"area":"Germany","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.3,"area":"Hungary","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.6,"area":"Ireland","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.4,"area":"Italy","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":24.1,"area":"Malta","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2009[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":5.8,"area":"Netherlands","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":6.5,"area":"Norway","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.5,"area":"Poland","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":12.6,"area":"Switzerland","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.68,"area":"United States","status":"Validated","source":"28009100[PMID]"}],"phenotypes":null}