Dural sinus malformation with arteriovenous shunt
Synonyms: Cranial dural arteriovenous fistula · Dural sinus malformation with arteriovenous fistulae
- Type
- Morphological anomaly
- Group
- Disorder
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Dural sinus malformation with arteriovenous shunt | Cranial dural arteriovenous fistula · Dural sinus malformation with arteriovenous fistulae |
| fr | Malformation des sinus duraux du crâne avec des shunts artério-veineux | Fistule artérioveineuse durale du crâne · Malformation des sinus duraux avec fistules artérioveineuses |
| de | Durale Sinusfehlbildung mit arteriovenösem Shunt | Durale Malformation mit arteriovenöser Fistel · Kraniale durale arteriovenöse Fistel |
| es | Malformación del seno dural con derivación arteriovenosa | Fístula arteriovenosa dural craneal · Malformación del seno dural con fístula arteriovenosa |
| it | Malformazione del seno durale con shunt arterovenoso | Fistola arterovenosa della dura del cranio · Malformazione del seno durale con fistole arterovenose |
| nl | Malformatie van durale sinus met arterioveneuze fistel | Craniale durale arterioveneuze fistel · Malformatie van durale sinus met arterioveneuze fistels |
| pt | Malformação dos seios durais com fístula arteriovenosa | Fístula arteriovenosa dural craniana · Malformação do seio dural com fístulas arteriovenosas |
| pl | Malformacja zatoki opony twardej z przetoką tętniczo-żylną | Malformacja tętniczo-żylna opony twardej · Przetoka tętniczo-żylna opony twardej |
| cs | Malformace durálních sinů | Kraniální durální arteriovenózní píštěl · Kraniální durální arteriovenózní malformace |
| uk | Вада розвитку дурального синуса | Черепно-мозкова артеріовенозна нориця · Артеріовенозні мальформації черепних дуральних артерій |
| zh | 硬脑膜窦畸形 | 颅硬脑膜动静脉畸形 |
| tr | Dural sinüs malformasyonu | Kraniyal dural arteriyovenöz fistül · Kraniyal dural arteriyovenöz malformasyonlar |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q28.3 | NTBT | attributed | validated |
| ICD-11 | LA90.2Y | NTBT | index | validated |
| MONDO | 0019972 | E | validated | |
| UMLS | C3839148 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:715750Intracranial fast-flow vascular malformation
rare developmental anomalies during embryogenesis; rare neurological diseases; rare circulatory system diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
48 annotations · validated 2021-10-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001977 | Abnormal thrombosis | |
| HP:0004947 | Arteriovenous fistula | |
| HP:0030724 | Central nervous system cyst | |
| HP:0000238 | Hydrocephalus | |
| HP:0008629 | Pulsatile tinnitus | |
| Occasional (29-5%) | ||
| HP:0001317 | Abnormal cerebellum morphology | |
| HP:3000043 | Abnormal facial vein morphology | |
| HP:0000932 | Abnormality of the posterior cranial fossa | |
| HP:0000504 | Abnormality of vision | |
| HP:0031157 | Carotid cavernous fistula | |
| HP:0011695 | Cerebellar hemorrhage | |
| HP:0001342 | Cerebral hemorrhage | |
| HP:0012375 | Chemosis | |
| HP:0000501 | Glaucoma | |
| HP:0002315 | Headache | |
| HP:0002516 | Increased intracranial pressure | |
| HP:0002170 | Intracranial hemorrhage | |
| HP:0002463 | Language impairment | |
| HP:0000256 | Macrocephaly | |
| HP:0001268 | Mental deterioration | |
| HP:0011342 | Mild global developmental delay | |
| HP:0001324 | Muscle weakness | |
| HP:0002196 | Myelopathy | |
| HP:0002017 | Nausea and vomiting | |
| HP:0007906 | Ocular hypertension | |
| HP:0001085 | Papilledema | |
| HP:0002370 | Poor coordination | |
| HP:0000520 | Proptosis | |
| HP:0003474 | Somatic sensory dysfunction | |
| HP:0001297 | Stroke | |
| HP:0002138 | Subarachnoid hemorrhage | |
| HP:0100309 | Subdural hemorrhage | |
| HP:0000572 | Visual loss | |
| Very rare (<4-1%) | ||
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0000741 | Apathy | |
| HP:0001251 | Ataxia | |
| HP:0002181 | Cerebral edema | |
| HP:0006824 | Cranial nerve paralysis | |
| HP:0000726 | Dementia | |
| HP:0002617 | Dilatation | |
| HP:0000651 | Diplopia | |
| HP:0030766 | Ear pain | |
| HP:0001269 | Hemiparesis | |
| HP:0007333 | Hypoplasia of the frontal lobes | |
| HP:0011343 | Moderate global developmental delay | |
| HP:0001300 | Parkinsonism | |
| HP:0001250 | Seizure | |
| HP:0002273 | Tetraparesis | |
Annotation source: 29246670[PMID]_31026653[PMID]_31267184[PMID]_30335307[PMID]_28552162[PMID]_29726736[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/97339
- This record as JSON: /data/d/97339.json