{"orpha":1677,"name":"Familial idiopathic dilatation of the right atrium","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare congenital heart malformation of unknown etiology that is characterized by an extremely dilated right atrium, and that is usually asymptomatic and fortuitously discovered by echocardiography or chest radiography, and can be sometimes associated with other anomalies such as atrial arrhythmias (e.g. atrial flutter, atrial fibrillation, supraventricular tachycardia), severe tricuspid regurgitation, or atrial thrombus that could lead to potentially life-threatening thromboembolic complications.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1677/","orphanet_url":"https://www.orpha.net/en/disease/detail/1677","names":{"fr":{"name":"Dilatation idiopathique familiale de l'oreillette droite","definition":"La dilatation idiopathique familiale de l'oreillette droite est une malformation cardiaque congénitale et rare, d'étiologie inconnue. Elle se caractérise par une dilatation très importante de l'oreillette droite. Elle est habituellement asymptomatique et découverte par hasard lors d'une échocardiographie ou d'une radiographie thoracique. D'autres anomalies peuvent parfois être associées, telles que des arythmies auriculaires (flutter auriculaire, fibrillation auriculaire, tachycardie supraventriculaire), une régurgitation tricuspide sévère ou un thrombus auriculaire qui peuvent conduire à des complications thromboemboliques pouvant mettre en jeu le pronostic vital."},"de":{"name":"Familiäre idiopathische rechtsseitige Vorhofdilatation"},"es":{"name":"Dilatación idiopática de la aurícula derecha","definition":"Es una malformación cardíaca congénita poco frecuente de etiología desconocida caracterizada por una aurícula derecha extremadamente dilatada, que suele ser asintomática y se detecta de manera incidental en una ecocardiografía o radiografía torácica. Puede estar asociada ocasionalmente con otras anomalías tales como arritmias auriculares (p. ej., flúter o fibrilación auricular, taquicardia supraventricular), insuficiencia tricuspídea grave o trombo auricular que pueden derivar en complicaciones tromboembólicas potencialmente mortales."},"it":{"name":"Dilatazione idiopatica dell'atrio destro"},"nl":{"name":"Familiale idiopathische dilatatie van rechteratrium","definition":"Een zeldzame, congenitale hartmalformatie met onbekende etiologie die gekarakteriseerd wordt door een extreem verwijd rechteratrium, die meestal asymptomatisch is en toevallig ontdekt wordt door echocardiografie of röntgenonderzoek van de borstkas, en die soms geassocieerd is met andere anomalieën zoals atriale aritmieën (e.g. atriumflutter, atriumfibrillatie, supraventriculaire tachycardie), ernstige tricuspidalisregurgitatie, of trombus in het atrium die kan leiden tot potentieel levensbedreigende trombo-embolische complicaties."},"pt":{"name":"Dilatação da aurícula direita familiar"},"pl":{"name":"Rodzinne idiopatyczne rozszerzenie prawego przedsionka"},"cs":{"name":"Familiární idiopatická dilatace pravé síně"},"uk":{"name":"Сімейна ідіопатична дилатація правого передсердя","definition":"A rare congenital heart malformation of unknown etiology that is characterized by an extremely dilated right atrium, and that is usually asymptomatic and fortuitously discovered by echocardiography or chest radiography, and can be sometimes associated with other anomalies such as atrial arrhythmias (e.g. atrial flutter, atrial fibrillation, supraventricular tachycardia), severe tricuspid regurgitation, or atrial thrombus that could lead to potentially life-threatening thromboembolic complications."},"zh":{"name":"家族性右心房特发性扩张"},"tr":{"name":"Sağ atriyumun ailesel idiyopatik dilatasyonu"}},"xrefs":[{"source":"ICD-10","code":"Q20.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA8F","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2067836926"},{"source":"MONDO","code":"0015666","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4274283","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":477805,"name":"Genetic cardiac malformation","classifications":[156]},{"orpha":98727,"name":"Rare atrial defect and interatrial communication","classifications":[147,148]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-08-31","source":"30546704[PMID]_11326142[PMID]","terms":[{"hpo":"HP:0011995","label":"Atrial septal dilatation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030718","label":"Right atrial enlargement","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030872","label":"Abnormal cardiac ventricular function","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005345","label":"Abnormal vena cava morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006707","label":"Abnormality of the hepatic vasculature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005110","label":"Atrial fibrillation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001678","label":"Atrioventricular block","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001640","label":"Cardiomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005178","label":"Complete heart block with narrow QRS complexes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031667","label":"Holosystolic murmur","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031665","label":"Midsystolic murmur","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001962","label":"Palpitations","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012664","label":"Reduced left ventricular ejection fraction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001667","label":"Right ventricular hypertrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001279","label":"Syncope","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005180","label":"Tricuspid regurgitation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:3000042","label":"Abnormal jugular vein morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004757","label":"Paroxysmal atrial fibrillation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012398","label":"Peripheral edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002202","label":"Pleural effusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null}]}}