{"orpha":97339,"name":"Dural sinus malformation with arteriovenous shunt","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Cranial dural arteriovenous fistula","Dural sinus malformation with arteriovenous fistulae"],"definition":"A rare neurovascular malformation characterized by massive dilation of one or more dural sinuses typically associated with arteriovenous shunts. Anatomic types are the lateral type involving the jugular bulb, which presents with minimal symptoms, and the usually symptomatic midline type involving the confluens sinuum (torcular Herophili) and adjacent posterior sinuses. Complications include sinus thrombosis, venous infarction, and cerebral hemorrhage, as well as cardiac failure, macrocrania, and hydrocephalus. Spontaneous regression of the malformation may occur.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-97339/","orphanet_url":"https://www.orpha.net/en/disease/detail/97339","names":{"fr":{"name":"Malformation des sinus duraux du crâne avec des shunts artério-veineux","synonyms":["Fistule artérioveineuse durale du crâne","Malformation des sinus duraux avec fistules artérioveineuses"],"definition":"Malformation neurovasculaire rare caractérisée par une dilatation massive d'un ou plusieurs sinus duraux, généralement associée à des shunts artério-veineux. Les types anatomiques sont le type latéral impliquant le bulbe jugulaire, qui s'accompagne des symptômes minimes, et le type médian généralement symptomatique affectant le confluent des sinus (appelé aussi torcular Herophili ) et les sinus postérieurs adjacents. Les complications sont la thrombose des sinus, l'infarctus veineux et l'hémorragie cérébrale, ainsi que l'insuffisance cardiaque, la macrocrânie et l'hydrocéphalie. Une régression spontanée de la malformation est possible."},"de":{"name":"Durale Sinusfehlbildung mit arteriovenösem Shunt","synonyms":["Durale Malformation mit arteriovenöser Fistel","Kraniale durale arteriovenöse Fistel"],"definition":"Eine seltene neurovaskuläre Fehlbildung, die durch eine massive Dilatation einer oder mehrerer Duralsinus gekennzeichnet ist und typischerweise mit arteriovenösen Shunts einhergeht. Anatomische Typen sind der laterale Typ mit Beteiligung des Bulbus jugularis, der mit minimalen Symptomen einhergeht, und der in der Regel symptomatische Mittellinien-Typ mit Beteiligung des Confluens sinuum (torcular Herophili) und der angrenzenden hinteren Sinus. Zu den Komplikationen gehören Sinusthrombosen, Veneninfarkte und Hirnblutungen sowie Herzversagen, Makrokranie und Hydrozephalus. Es kann zu einer spontanen Rückbildung der Fehlbildung kommen."},"es":{"name":"Malformación del seno dural con derivación arteriovenosa","synonyms":["Fístula arteriovenosa dural craneal","Malformación del seno dural con fístula arteriovenosa"],"definition":"Es una malformación neurovascular poco frecuente caracterizada por una dilatación masiva de uno o más senos durales típicamente asociada con derivaciones arteriovenosas. Los tipos anatómicos comprenden el tipo lateral que afecta al bulbo de la yugular, que se presenta con síntomas mínimos, y el tipo de línea media, generalmente sintomático, que afecta a la confluencia de los senos (Herophili torcular) y a los senos posteriores adyacentes. Las complicaciones incluyen la trombosis de los senos, infarto venoso y hemorragia cerebral, así como insuficiencia cardíaca, macrocefalia e hidrocefalia. Puede ocurrir una regresión espontánea de la malformación."},"it":{"name":"Malformazione del seno durale con shunt arterovenoso","synonyms":["Fistola arterovenosa della dura del cranio","Malformazione del seno durale con fistole arterovenose"],"definition":"Si tratta di una malformazione neurovascolare rara, caratterizzata dalla marcata dilatazione di uno o più seni durali, di solito associata a shunt arterovenosi. Si conoscono due sottogruppi anatomici della malattia: il tipo laterale, che interessa il bulbo giugulare e si associa a sintomi molto lievi, e il tipo della linea mediana, in genere sintomatico, che interessa il seno confluente (torculare di Erofilo) e i seni posteriori adiacenti. Le complicanze comprendono la trombosi dei seni, l'infarto venoso, l'emorragia cerebrale, l'insufficienza cardiaca, la macrocrania e l'idrocefalo. È possibile la regressione spontanea della malformazione."},"nl":{"name":"Malformatie van durale sinus met arterioveneuze fistel","synonyms":["Craniale durale arterioveneuze fistel","Malformatie van durale sinus met arterioveneuze fistels"],"definition":"Een zeldzame neurovasculaire malformatie, gekarakteriseerd door massale dilatatie van een of meer durale sinussen, doorgaans geassocieerd met arterioveneuze fistels. Anatomische types zijn het laterale type met betrokkenheid van bulbus venae jugularis, dat zich presenteert met minimale symptomen, en het meestal symptomatische middellijn-type met betrokkenheid van confluens sinuum en aangrenzende posterieure sinussen. Complicaties zijn onder meer trombose van sinus, veneus infarct, en hersenbloeding, alsook hartfalen, macrocefalie, en hydrocefalie. Spontane regressie van de malformatie kan voorkomen."},"pt":{"name":"Malformação dos seios durais com fístula arteriovenosa","synonyms":["Fístula arteriovenosa dural craniana","Malformação do seio dural com fístulas arteriovenosas"]},"pl":{"name":"Malformacja zatoki opony twardej z przetoką tętniczo-żylną","synonyms":["Malformacja tętniczo-żylna opony twardej","Przetoka tętniczo-żylna opony twardej"]},"cs":{"name":"Malformace durálních sinů","synonyms":["Kraniální durální arteriovenózní píštěl","Kraniální durální arteriovenózní malformace"]},"uk":{"name":"Вада розвитку дурального синуса","synonyms":["Черепно-мозкова артеріовенозна нориця","Артеріовенозні мальформації черепних дуральних артерій"],"definition":"A rare neurovascular malformation characterized by massive dilation of one or more dural sinuses typically associated with arteriovenous shunts. Anatomic types are the lateral type involving the jugular bulb, which presents with minimal symptoms, and the usually symptomatic midline type involving the confluens sinuum (torcular Herophili) and adjacent posterior sinuses. Complications include sinus thrombosis, venous infarction, and cerebral hemorrhage, as well as cardiac failure, macrocrania, and hydrocephalus. Spontaneous regression of the malformation may occur."},"zh":{"name":"硬脑膜窦畸形","synonyms":["颅硬脑膜动静脉畸形"],"definition":"一种罕见的神经血管畸形，其特征是一个或多个硬脑膜窦大量扩张，通常与动静脉分流有关。解剖学类型是累及颈静脉球的侧向型，症状最轻；通常有症状性的中线型，累及汇合窦(环状Herophili)和邻近的后鼻窦。并发症包括窦血栓、静脉梗塞和脑出血，以及心力衰竭、巨颅和脑积水。可能会发生畸形的自发消退。"},"tr":{"name":"Dural sinüs malformasyonu","synonyms":["Kraniyal dural arteriyovenöz fistül","Kraniyal dural arteriyovenöz malformasyonlar"]}},"xrefs":[{"source":"ICD-10","code":"Q28.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA90.2Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"454640405"},{"source":"MONDO","code":"0019972","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3839148","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":715750,"name":"Intracranial fast-flow vascular malformation","classifications":[147,181,198]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Infancy","Neonatal"],"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":"2021-10-20","source":"29246670[PMID]_31026653[PMID]_31267184[PMID]_30335307[PMID]_28552162[PMID]_29726736[PMID]","terms":[{"hpo":"HP:0001977","label":"Abnormal thrombosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004947","label":"Arteriovenous fistula","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030724","label":"Central nervous system cyst","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008629","label":"Pulsatile tinnitus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001317","label":"Abnormal cerebellum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:3000043","label":"Abnormal facial vein morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000932","label":"Abnormality of the posterior cranial fossa","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000504","label":"Abnormality of vision","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031157","label":"Carotid cavernous fistula","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011695","label":"Cerebellar hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001342","label":"Cerebral hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012375","label":"Chemosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002516","label":"Increased intracranial pressure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002170","label":"Intracranial hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002463","label":"Language impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001268","label":"Mental deterioration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011342","label":"Mild global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002196","label":"Myelopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007906","label":"Ocular hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001085","label":"Papilledema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002370","label":"Poor coordination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003474","label":"Somatic sensory dysfunction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001297","label":"Stroke","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002138","label":"Subarachnoid hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100309","label":"Subdural hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000572","label":"Visual loss","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000741","label":"Apathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002181","label":"Cerebral edema","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006824","label":"Cranial nerve paralysis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002617","label":"Dilatation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000651","label":"Diplopia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030766","label":"Ear pain","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001269","label":"Hemiparesis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007333","label":"Hypoplasia of the frontal lobes","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011343","label":"Moderate global developmental delay","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001300","label":"Parkinsonism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002273","label":"Tetraparesis","frequency":"Very rare (<4-1%)","criteria":null}]}}