{"orpha":97548,"name":"Right isomerism","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Ivemark syndrome","RAI","Right atrial isomerism"],"definition":"A form of heterotaxy characterized by both atrial appendages having the morphology of a right atrial appendage, often associated with two morphologically right lungs and/or bronchi, and asplenia. Associated cardiovascular defects are frequent, including dextrocardia or mesocardia, common atrioventricular junction (atrioventricular septal defect), ventricular hypoplasia in half of cases, anomalous ventriculo-arterial connections (malposition or transposition of the great arteries), anomalous systemic and pulmonary venous connections (total anomalous pulmonary venous return), absent coronary sinus, and frequent subpulmonary stenosis. Cardiac arrhythmias are frequently observed. Typical extracardiac anomalies are midline liver, intestinal malrotation.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-97548/","orphanet_url":"https://www.orpha.net/en/disease/detail/97548","names":{"fr":{"name":"Isomérisme droit","synonyms":["Isomérisme atrial droit","Syndrome d'Ivemark"],"definition":"Forme d'hétérotaxie caractérisée par des appendices auriculaires ayant tous les deux la morphologie de l'appendice auriculaire droit, souvent associée à deux poumons et/ou bronches dont la morphologie est propre à l'organe du côté droit, ainsi qu'à une polysplénie. Les anomalies cardiovasculaires associées sont fréquentes, notamment la dextrocardie ou la mésocardie, une jonction auriculo-ventriculaire commune (communication interauriculaire), une hypoplasie ventriculaire dans la moitié des cas, des connexions ventriculo-artérielles anormales (malposition ou transposition des grandes artères), des connexions veineuses systémiques et pulmonaires anormales (retour veineux pulmonaire anormal total), l'absence de sinus coronaire et une sténose sous-pulmonaire fréquente. Des arythmies cardiaques sont fréquemment observées. Les anomalies extracardiaques typiques sont un foie qui déborde sur la ligne médiane et une malrotation intestinale."},"de":{"name":"Rechtsisomerie","synonyms":["Ivemark-Syndrom","RAI","Rechtsatriale Isomerie"]},"es":{"name":"Isomerismo derecho","synonyms":["Isomerismo auricular derecho","Síndrome de Ivemark"],"definition":"Es una heterotaxia poco frecuente caracterizada por malformaciones cardíacas congénitas complejas y lateralización anómala de otros órganos torácicos y abdominales debido a una alteración del desarrollo embrionario del eje izquierda-derecha. Los defectos cardíacos incluyen la dextrocardia o la mesocardia, la válvula aurículoventricular común asociada a una comunicación aurículo-ventricular completa o a una aurícula común, la transposición o malposición de las grandes arterias y el drenaje venoso pulmonar anómalo total, entre otros. Con frecuencia se observa arritmias cardíacas. Las anomalías típicas en otros órganos incluyen los pulmones trilobulados bilaterales, el hígado dispuesto en la línea media y la asplenia. Los pacientes se presentan en el período neonatal con insuficiencia cardíaca grave y cianosis. El pronóstico es desfavorable."},"it":{"name":"Isomerismo destro","synonyms":["RAI","Sindrome di Ivemark"],"definition":"Si tratta di un'eterotassia rara caratterizzata da cardiopatie congenite complesse e da una lateralizzazione anomala di altri organi toracici e addominali, secondaria alla compromissione dello sviluppo dell'asse sinistro-destro durante l'embriogenesi. Le cardiopatie comprendono la destrocardia o la mesocardia, la valvola atrioventricolare comune associata a un difetto completo del setto atrioventricolare o all'atrio comune, la trasposizione o il malposizionamento delle grandi arterie, e il ritorno venoso polmonare anomalo. Sono comuni le aritmie cardiache. Le anomalie caratteristiche degli altri organi comprendono i polmoni trilobati, il fegato in posizione centrale e l'asplenia. La malattia esordisce nel periodo neonatale con insufficienza cardiaca grave e cianosi. La prognosi è sfavorevole."},"nl":{"name":"Rechter isomerie","synonyms":["Rechter atriaal isomerisme","RAI","Rechter atriale isomerie","Syndroom van Ivemark"],"definition":"Een zeldzame heterotaxie, gekenmerkt door complexe congenitale hartmalformaties en abnormale lateralisatie van andere thoracale en abdominale organen door embryonale disruptie van de ontwikkeling van de links/rechts-as. Hartdefecten zijn onder meer dextrocardie of mesocardie, gemeenschappelijke atrioventriculaire klep geassocieerd met totaal atrioventriculair septumdefect of gemeenschappelijk atrium, transpositie of malpositie van grote arteriën, en volledig afwijkende drainage van longaders. Hartritmestoornissen worden vaak waargenomen Typische afwijkingen van andere organen zijn bilaterale drielobbige longen, lever in de middellijn, en asplenie. Patiënten presenteren zich in de neonatale periode met ernstig hartfalen en cyanose. De prognose is ongunstig."},"pt":{"name":"Isomerismo direito","synonyms":["RAI","Isomerismo auricular direito"]},"pl":{"name":"Zespół Ivemarka","synonyms":["Izomeryzm prawostronny"]},"cs":{"name":"Ivemarkův syndrom","synonyms":["Ivemark syndrome","RAI","Right atrial isomerism"]},"uk":{"name":"Правобічна ізомерія передсердь","synonyms":["Ізомерія правого передсердного відростка","Синдром Айвемарка","RAI"],"definition":"A rare heterotaxia characterized by complex congenital heart malformations and abnormal lateralization of other thoracic and abdominal organs due to embryonic disruption of the left-right axis development. Cardiac defects include dextrocardia or mesocardia, common atrioventricular valve associated with complete atrioventricular septal defect or common atrium, transposition or malposition of the great arteries, and total anomalous pulmonary venous drainage, among others. Cardiac arrhythmias are frequently observed. Typical abnormalities of other organs are bilateral trilobed lungs, midline liver, and asplenia. Patients present in the newborn period with severe cardiac failure and cyanosis. Prognosis is poor."},"zh":{"name":"右侧心房异构","synonyms":["右心耳异构"]},"tr":{"name":"Sağ atriyal izomerizm","synonyms":["RAI","Ivemark sendromu","Sağ atriyal apendaj izomerizmi"]}},"xrefs":[{"source":"OMIM","code":"208530","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"621079","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q20.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA8Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"967750556"},{"source":"MONDO","code":"0008832","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3178806","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6795","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10068335","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":271853,"name":"Genetic cardiac anomaly","classifications":[156]},{"orpha":108973,"name":"Syndromic visceral malformation of the liver, biliary tract, pancreas or spleen","classifications":[147,156,182]},{"orpha":450,"name":"Visceral heterotaxy","classifications":[147,148]}],"children":[],"genes":[{"symbol":"GDF1","name":"growth differentiation factor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20413652[PMID]","hgnc":"4214","ensembl":"ENSG00000130283","omim":"602880","loci":["19p13.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"France","status":"Validated","source":"9562017[PMID]_25752370[PMID]_34631807[PMID]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":16.67,"area":"France","status":"Validated","source":"8308205[PMID]"}],"phenotypes":null}