{"orpha":99095,"name":"Congenital Gerbode defect","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Left ventricular-to-right atrial communication"],"definition":"A rare, congenital non-syndromic heart malformation characterized by an abnormal shunting between the left ventricle and right atrium. The clinical manifestation varies, depending on the volume of the shunt. Small congenital shunts are usually asymptomatic or associated with dyspnea and fever, whereas larger shunts often present with chest pain, fatigue, weakness, lower extremity edema, and sometimes heart failure and death. Other congenital heart anomalies may be associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99095/","orphanet_url":"https://www.orpha.net/en/disease/detail/99095","names":{"fr":{"name":"Anomalie congénitale de Gerbode","synonyms":["Communication entre le ventricule gauche et l'atrium droit","Communication entre le ventricule gauche et l'oreillette droite"],"definition":"Malformation cardiaque congénitale non syndromique rare caractérisée par un shunt anormal entre le ventricule gauche et l'oreillette droite. La manifestation clinique varie en fonction du volume du shunt. Les petits shunts congénitaux sont généralement asymptomatiques ou associés à une dyspnée et à une fièvre, tandis que les shunts plus importants se manifestent souvent par des douleurs thoraciques, une fatigue, une faiblesse, un oedème des membres inférieurs, et parfois une insuffisance cardiaque et le décès. D'autres anomalies cardiaques congénitales peuvent être associées."},"de":{"name":"Gerbode-Defekt, kongenitaler","synonyms":["Ventrikelseptumdefekt mit linksventrikulärem-rechtsatrialem-Shunt"],"definition":"Eine seltene, angeborene, nicht-syndromale Fehlbildung des Herzens, die durch einen anormalen Shunt zwischen der linken Herzkammer und dem rechten Vorhof gekennzeichnet ist. Die klinische Manifestation variiert je nach Größe des Shunts. Kleine angeborene Shunts sind in der Regel asymptomatisch oder gehen mit Dyspnoe und Fieber einher, während größere Shunts häufig mit Brustschmerzen, Müdigkeit, Schwäche, Ödemen der unteren Extremitäten und manchmal mit Herzversagen und Tod einhergehen. Andere angeborene Herzanomalien können damit verbunden sein."},"es":{"name":"Defecto congénito de Gerbode","synonyms":["Comunicación ventrículo izquierdo-aurícula derecha"],"definition":"Es una malformación cardíaca no sindrómica, congénita y poco frecuente, caracterizada por un cortocircuito anómalo entre el ventrículo izquierdo y la aurícula derecha. La manifestación clínica varía según el volumen del cortocircuito. Por lo general, los cortocircuitos congénitos de menor tamaño son asintomáticos o están asociados con disnea y fiebre, mientras que los cortocircuitos de mayor tamaño se presentan frecuentemente con dolor torácico, fatiga, debilidad, edema en las extremidades inferiores y, en algunos casos, insuficiencia cardíaca y muerte. Puede asociar otras anomalías cardíacas congénitas."},"it":{"name":"Difetto congenito di Gerbode","definition":"È una cardiopatia congenita non sindromica rara, caratterizzata da una comunicazione anomala tra il ventricolo sinistro e l'atrio destro. Il quadro clinico è variabile e dipende dal volume dello shunt; di solito se il difetto è congenito e di piccole dimensioni, lo shunt è asintomatico oppure si associa a dispnea e febbre, mentre se è di dimensioni maggiori, può esordire con dolore toracico, affaticamento, debolezza, edema degli arti inferiori e, talvolta, insufficienza cardiaca e morte. Può associarsi ad altre cardiopatie congenite."},"nl":{"name":"Congenitaal defect van Gerbode","synonyms":["Linkerventriculaire naar rechteratriale communicatie"],"definition":"Een zeldzame, congenitale, niet-syndromale hartmalformatie die gekarakteriseerd wordt door een abnormale verbinding tussen het linkerventrikel en het rechteratrium. De klinische manifestatie varieert, afhankelijk van het volume van de aberrante verbinding. Kleine congenitale verbindingen zijn meestal asymptomatisch of geassocieerd met dyspneu en koorts, terwijl grote verbindingen zich vaak presenteren met pijn in de borst, vermoeidheid, zwakheid, oedeem in de onderste ledematen, en soms hartfalen en overlijden. Andere congenitale hartanomalieën kunnen geassocieerd zijn."},"pt":{"name":"Defeito de Gerbode"},"pl":{"name":"Ubytek Gerbode'a","synonyms":["Przeciek lewa komora-prawy przedsionek"]},"cs":{"name":"Gerbodeův defekt","synonyms":["Komunikace mezi levou komorou a pravou síní"]},"uk":{"name":"Вроджена вада Гербоде","synonyms":["Звязок лівого шлуночка з правим передсердям"],"definition":"A rare, congenital non-syndromic heart malformation characterized by an abnormal shunting between the left ventricle and right atrium. The clinical manifestation varies, depending on the volume of the shunt. Small congenital shunts are usually asymptomatic or associated with dyspnea and fever, whereas larger shunts often present with chest pain, fatigue, weakness, lower extremity edema, and sometimes heart failure and death. Other congenital heart anomalies may be associated."},"zh":{"name":"先天性Gerbode缺损","synonyms":["左心室-右心房交通"],"definition":"该病是一种罕见的先天性非综合征性心脏畸形，特征是左心室和右心房之间有不正常的分流。根据分流的大小，临床表现各不相同。小的先天分流通常没有症状或伴有呼吸困难和发热，而大的分流通常会出现胸痛、疲劳、虚弱、下肢水肿，有时还会出现心力衰竭和死亡。其他先天性心脏畸形也可能与此相关。"},"tr":{"name":"Doğumsal Gerbode defekti","synonyms":["Sol ventrikülerden sağa atriyal iletim"]}},"xrefs":[{"source":"ICD-10","code":"Q21.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA87.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1370033158"},{"source":"MONDO","code":"0020428","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0344947","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":88991,"name":"Rare congenital heart disease","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":"28983172[PMID]_28511407[PMID]","terms":[{"hpo":"HP:0012382","label":"Left-to-right shunt","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031443","label":"Abnormal tricuspid valve leaflet morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001785","label":"Ankle swelling","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006689","label":"Bacterial endocarditis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030830","label":"Crackles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005168","label":"Elevated right atrial pressure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031667","label":"Holosystolic murmur","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001962","label":"Palpitations","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011682","label":"Perimembranous ventricular septal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012398","label":"Peripheral edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030718","label":"Right atrial enlargement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001708","label":"Right ventricular failure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001667","label":"Right ventricular hypertrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031664","label":"Systolic heart murmur","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100749","label":"Chest pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002563","label":"Constrictive pericarditis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002617","label":"Dilatation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030848","label":"Elevated jugular venous pressure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010741","label":"Pedal edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001642","label":"Pulmonic stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005180","label":"Tricuspid regurgitation","frequency":"Occasional (29-5%)","criteria":null}]}}