{"orpha":542822,"name":"Anomaly of the coronary ostia","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":"A group of rare congenital coronary artery malformations comprising abnormal number of coronary ostia, malposition of a coronary ostium, and stenosis or atresia of a coronary ostium. Patients may remain asymptomatic or present with variable signs and symptoms, depending on the nature and severity of the malformation, including failure to thrive, dyspnea, syncope, angina pectoris, ventricular tachycardia, and myocardial ischemia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-542822/","orphanet_url":"https://www.orpha.net/en/disease/detail/542822","names":{"fr":{"name":"Anomalie des ostia coronaires","definition":"Groupe d'anomalies congénitales rares des artères coronaires comprenant un nombre anormal d'ostia coronaires, une malposition et une sténose ou une atrésie d'un ostium coronaire. Selon la nature et la sévérité de la malformation, les patients peuvent rester asymptomatiques ou présenter des signes et symptômes variables, dont retard de croissance, dyspnée, syncope, angine de poitrine, tachycardie ventriculaire et ischémie myocardique."},"de":{"name":"Anomalie des Koronarostium","definition":"Eine Gruppe seltener angeborener Fehlbildungen der Koronararterien, die eine abnorme Anzahl von Koronarostien, eine Fehlstellung eines Koronarostiums und eine Stenose oder Atresie eines Koronarostiums umfassen. Die Patienten können asymptomatisch bleiben oder je nach Art und Schwere der Fehlbildung unterschiedliche Anzeichen und Symptome aufweisen, darunter Gedeihstörung, Dyspnoe, Synkope, Angina pectoris, ventrikuläre Tachykardie und Myokardischämie."},"es":{"name":"Anomalía de los ostia coronarios","definition":"Es un grupo poco frecuente de malformaciones coronarias congénitas, que incluye anomalías de número de ostio coronarios, así como malposición, estenosis o atresia de un ostium coronario. Los pacientes pueden permanecer asintomáticos o presentarse con signos y síntomas variables, según la naturaleza y la gravedad de la malformación, incluyendo fallo de medro, disnea, síncope, angina de pecho, taquicardia ventricular e isquemia miocárdica."},"it":{"name":"Anomalia degli osti coronarici","definition":"Si tratta di un gruppo di malformazioni congenite rare delle arterie coronarie, che comprendono le anomalie del numero degli osti coronarici, il malposizionamento e la stenosi/atresia di un ostio coronarico. I pazienti possono essere asintomatici o presentare segni clinici variabili, a seconda della natura e della gravità della malformazione, compreso il ritardo della crescita, la dispnea, la sincope, l'angina pectoris, la tachicardia ventricolare e l'ischemia miocardica."},"nl":{"name":"Anomalie van coronair ostium","definition":"Een groep van zeldzame congenitale malformaties van kransslagader, gekenmerkt door abnormaal aantal coronaire ostia, malpositie van een ostium van kransslagader, en stenose of atresie van een coronair ostium. Patiënten kunnen asymptomatisch blijven, of zich presenteren met variabele verschijnselen en symptomen, afhankelijk van de aard en de ernst van de malformatie, waaronder niet-gedijen, dyspneu, syncope, angina pectoris, ventriculaire tachycardie, en myocardischemie."},"pt":{"name":"Anomalia dos ostium coronários"},"pl":{"name":"Wada ujścia wieńcowego"},"cs":{"name":"Anomálie koronárního ostia"},"uk":{"name":"Аномалія коронарного отвору","definition":"A group of rare congenital coronary artery malformations comprising abnormal number of coronary ostia, malposition of a coronary ostium, and stenosis or atresia of a coronary ostium. Patients may remain asymptomatic or present with variable signs and symptoms, depending on the nature and severity of the malformation, including failure to thrive, dyspnea, syncope, angina pectoris, ventricular tachycardia, and myocardial ischemia."},"zh":{"name":"冠状动脉口异常"},"tr":{"name":"Koroner ostia anomalisi"}},"xrefs":[{"source":"UMLS","code":"C5681322","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":1081,"name":"Coronary artery congenital malformation","classifications":[147,148]}],"children":[{"orpha":99089,"name":"Abnormal number of coronary ostia","type":"Morphological anomaly"},{"orpha":99087,"name":"Coronary ostial stenosis or atresia","type":"Morphological anomaly"},{"orpha":99090,"name":"Malposition of a coronary ostium","type":"Morphological anomaly"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}