{"orpha":693846,"name":"Hepatic arteriovenous malformation","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Arteriovenous malformation of the liver","Congenital hepatic arteriovenous malformation","HAVM"],"definition":"A rare visceral arteriovenous malformation characterized by direct arterial-to-venous connections within the liver. Patients may be asymptomatic or present with symptoms such as anemia, consumptive coagulopathy, portal hypertension, hepatomegaly and may develop complications including congestive heart failure, necrosis of the liver or hydrops fetalis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-693846/","orphanet_url":"https://www.orpha.net/en/disease/detail/693846","names":{"fr":{"name":"Malformation artérioveineuse hépatique","synonyms":["HAVM","MAVh","Malformation artérioveineuse du foie"],"definition":"Malformation artérioveineuse viscérale rare caractérisée par une communication artérioveineuse directe dans le foie. Les patients peuvent être asymptomatiques ou présenter une anémie, une coagulopathie de consommation, une hypertension portale et une hépatomégalie. Ils peuvent développer des complications telles qu'une insuffisance cardiaque congestive, une nécrose du foie ou un hydrops foetalis."},"de":{"name":"Hepatische arteriovenöse Fehlbildung","synonyms":["Arteriovenöse Fehlbildung der Leber","HAVM","Kongenitale hepatische arteriovenöse Fehlbildung"],"definition":"Eine seltene viszerale arteriovenöse Fehlbildung, die durch direkte arteriovenöse Verbindungen innerhalb der Leber gekennzeichnet ist. Die Patienten können asymptomatisch sein oder Symptome wie Anämie, konsumptive Koagulopathie, portale Hypertonie und Hepatomegalie aufweisen und Komplikationen wie kongestive Herzinsuffizienz, Lebernekrose oder Hydrops fetalis entwickeln."},"es":{"name":"Malformación arteriovenosa hepática","synonyms":["MAVH","Malformación arteriovenosa del hígado","Malformación arteriovenosa hepática congénita"],"definition":"Es una malformación arteriovenosa visceral poco frecuente caracterizada por conexiones arteriovenosas directas intrahepáticas. Los pacientes pueden permanecer asintomáticos o presentar síntomas como anemia, coagulopatía consuntiva, hipertensión portal y hepatomegalia. También pueden desarrollar complicaciones como insuficiencia cardíaca congestiva, necrosis hepática o hidropesía fetal."},"it":{"name":"Malformazione arterovenosa epatica","synonyms":["Malformazione arterovenosa del fegato","Malformazione arterovenosa epatica congenita","HAVM"]},"nl":{"name":"Arterioveneuze malformatie van lever","synonyms":["Congenitale hepatische arterioveneuze malformatie","HAVM","Hepatische arterioveneuze malformatie"],"definition":"Een zeldzame viscerale arterioveneuze malformatie, gekenmerkt door directe verbindingen tussen slagaders en aders in de lever. Patiënten kunnen asymptomatisch zijn of zich presenteren met symptomen zoals anemie, consumptieve coagulopathie (gedissemineerde intravasculaire stolling), portale hypertensie, hepatomegalie, en kunnen complicaties ontwikkelen, waaronder congestief hartfalen, necrose van lever of hydrops foetalis."},"pt":{"name":"Malformação arteriovenosa hepática","synonyms":["Malformação arteriovenosa do fígado","Malformação arteriovenosa hepática congénita","HAVM"]},"pl":{"name":"Malformacja tętniczo-żylna wątroby","synonyms":["Arteriovenous malformation of the liver","Congenital hepatic arteriovenous malformation","HAVM"]},"cs":{"name":"Hepatic arteriovenous malformation","synonyms":["Arteriovenous malformation of the liver","Congenital hepatic arteriovenous malformation","HAVM"]}},"xrefs":[{"source":"ICD-10","code":"Q27.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA90.3Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":506210,"name":"Rare disorder potentially indicated for liver transplant","classifications":[233]},{"orpha":101938,"name":"Rare vascular liver disease","classifications":[183]},{"orpha":693855,"name":"Visceral fast-flow vascular malformation","classifications":[147,198]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":100.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}