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Lymphedema-cerebral arteriovenous anomaly syndrome

MedGen UID:
322617
•Concept ID:
C1835272
•
Disease or Syndrome
Synonyms: Lymphedema and cerebral arteriovenous anomaly; Primary pulmonary hypertension, cerebrovascular malformation and lymphedema feet
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0007917
OMIM®: 152900
Orphanet: ORPHA86914

Definition

Lymphedema-cerebral arteriovenous anomaly syndrome is characterised by the variable association of a cerebrovascular malformation, foot lymphoedema and primary pulmonary hypertension. It has been described in a woman and four of her children. [from ORDO]

Clinical features

From HPO
Pulmonary arterial hypertension
MedGen UID:
425404
•Concept ID:
C2973725
•
Disease or Syndrome
Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.
See: Feature record | Search on this feature
Abnormal cerebral vascular morphology
MedGen UID:
867613
•Concept ID:
C4022001
•
Anatomical Abnormality
An anomaly of the cerebral blood vessels.
See: Feature record | Search on this feature
Lymphedema
MedGen UID:
6155
•Concept ID:
C0024236
•
Disease or Syndrome
Localized fluid retention and tissue swelling caused by a compromised lymphatic system.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLymphedema-cerebral arteriovenous anomaly syndrome
Follow this link to review classifications for Lymphedema-cerebral arteriovenous anomaly syndrome in Orphanet.

Professional guidelines

PubMed

Hereditary hemorrhagic telangiectasia: diagnosis and management from the hematologist's perspective.
Kritharis A, Al-Samkari H, Kuter DJ
Haematologica 2018 Sep;103(9):1433-1443. Epub 2018 May 24 doi: 10.3324/haematol.2018.193003. PMID: 29794143Free PMC Article
Congenital portosystemic shunts: diagnosis and treatment.
Franchi-Abella S, Gonzales E, Ackermann O, Branchereau S, Pariente D, Guérin F; International Registry of Congenital Portosystemic Shunt members
Abdom Radiol (NY) 2018 Aug;43(8):2023-2036. doi: 10.1007/s00261-018-1619-8. PMID: 29730740
Carotid-cavernous fistula: current concepts in aetiology, investigation, and management.
Henderson AD, Miller NR
Eye (Lond) 2018 Feb;32(2):164-172. Epub 2017 Nov 3 doi: 10.1038/eye.2017.240. PMID: 29099499Free PMC Article

Recent clinical studies

Etiology

Arteriovenous Malformations.
AlShamekh S
Dermatol Clin 2022 Oct;40(4):445-448. doi: 10.1016/j.det.2022.06.012. PMID: 36243431
Management of visceral vascular anomalies.
Cooke-Barber J, Dasgupta R
Semin Pediatr Surg 2020 Oct;29(5):150977. Epub 2020 Sep 16 doi: 10.1016/j.sempedsurg.2020.150977. PMID: 33069283
Klippel-Trenaunay Syndrome.
John PR
Tech Vasc Interv Radiol 2019 Dec;22(4):100634. Epub 2019 Sep 23 doi: 10.1016/j.tvir.2019.100634. PMID: 31864529
Carotid-cavernous fistula: current concepts in aetiology, investigation, and management.
Henderson AD, Miller NR
Eye (Lond) 2018 Feb;32(2):164-172. Epub 2017 Nov 3 doi: 10.1038/eye.2017.240. PMID: 29099499Free PMC Article
Pulmonary arteriovenous malformations.
Cartin-Ceba R, Swanson KL, Krowka MJ
Chest 2013 Sep;144(3):1033-1044. doi: 10.1378/chest.12-0924. PMID: 24008954

Diagnosis

Update on pulmonary arteriovenous malformations.
Salibe-Filho W, Oliveira FR, Terra-Filho M
J Bras Pneumol 2023;49(2):e20220359. Epub 2023 May 1 doi: 10.36416/1806-3756/e20220359. PMID: 37132738Free PMC Article
Arteriovenous Malformations.
AlShamekh S
Dermatol Clin 2022 Oct;40(4):445-448. doi: 10.1016/j.det.2022.06.012. PMID: 36243431
Neurovascular disease and syndromes: Diagnosis and therapy in children.
Nesbit GM
Handb Clin Neurol 2021;176:305-323. doi: 10.1016/B978-0-444-64034-5.00015-8. PMID: 33272401
Klippel-Trenaunay Syndrome.
John PR
Tech Vasc Interv Radiol 2019 Dec;22(4):100634. Epub 2019 Sep 23 doi: 10.1016/j.tvir.2019.100634. PMID: 31864529
Vascular Anomalies (Part I): Classification and Diagnostics of Vascular Anomalies.
Sadick M, Müller-Wille R, Wildgruber M, Wohlgemuth WA
Rofo 2018 Sep;190(9):825-835. Epub 2018 Jun 6 doi: 10.1055/a-0620-8925. PMID: 29874693

Therapy

Overview of hemodialysis access and assessment.
Arasu R, Jegatheesan D, Sivakumaran Y
Can Fam Physician 2022 Aug;68(8):577-582. doi: 10.46747/cfp.6808577. PMID: 35961720Free PMC Article
Future treatments for hereditary hemorrhagic telangiectasia.
Robert F, Desroches-Castan A, Bailly S, Dupuis-Girod S, Feige JJ
Orphanet J Rare Dis 2020 Jan 7;15(1):4. doi: 10.1186/s13023-019-1281-4. PMID: 31910860Free PMC Article
Klippel-Trenaunay Syndrome.
John PR
Tech Vasc Interv Radiol 2019 Dec;22(4):100634. Epub 2019 Sep 23 doi: 10.1016/j.tvir.2019.100634. PMID: 31864529
Vascular malformations syndromes: an update.
Martinez-Lopez A, Salvador-Rodriguez L, Montero-Vilchez T, Molina-Leyva A, Tercedor-Sanchez J, Arias-Santiago S
Curr Opin Pediatr 2019 Dec;31(6):747-753. doi: 10.1097/MOP.0000000000000812. PMID: 31693582
Hereditary hemorrhagic telangiectasia: diagnosis and management from the hematologist's perspective.
Kritharis A, Al-Samkari H, Kuter DJ
Haematologica 2018 Sep;103(9):1433-1443. Epub 2018 May 24 doi: 10.3324/haematol.2018.193003. PMID: 29794143Free PMC Article

Prognosis

Key biomarkers in cerebral arteriovenous malformations: Updated review.
Tanzadehpanah H, Modaghegh MHS, Mahaki H
J Gene Med 2023 Dec;25(12):e3559. Epub 2023 Jun 28 doi: 10.1002/jgm.3559. PMID: 37380428
Wunderlich Syndrome: Comprehensive Review of Diagnosis and Management.
Shah JN, Gandhi D, Prasad SR, Sandhu PK, Banker H, Molina R, Khan S, Garg T, Katabathina VS
Radiographics 2023 Jun;43(6):e220172. doi: 10.1148/rg.220172. PMID: 37227946
Update on pulmonary arteriovenous malformations.
Salibe-Filho W, Oliveira FR, Terra-Filho M
J Bras Pneumol 2023;49(2):e20220359. Epub 2023 May 1 doi: 10.36416/1806-3756/e20220359. PMID: 37132738Free PMC Article
Pediatric Spinal Cord Diseases.
Lu VM, Niazi TN
Pediatr Rev 2021 Sep;42(9):486-499. doi: 10.1542/pir.2020-000661. PMID: 34470868
Pulmonary arteriovenous malformations.
Cartin-Ceba R, Swanson KL, Krowka MJ
Chest 2013 Sep;144(3):1033-1044. doi: 10.1378/chest.12-0924. PMID: 24008954

Clinical prediction guides

Key biomarkers in cerebral arteriovenous malformations: Updated review.
Tanzadehpanah H, Modaghegh MHS, Mahaki H
J Gene Med 2023 Dec;25(12):e3559. Epub 2023 Jun 28 doi: 10.1002/jgm.3559. PMID: 37380428
A taxonomy for deep cerebral cavernous malformations: subtypes of thalamic lesions.
Catapano JS, Rumalla K, Srinivasan VM, Benner D, Winkler EA, Lawrence PM, Larson Keil K, Lawton MT
J Neurosurg 2023 Dec 1;139(6):1681-1696. Epub 2023 May 19 doi: 10.3171/2023.3.JNS23234. PMID: 37209072
Dural Arteriovenous Fistula and Foix-Alajouanine Syndrome: Assessment of Functional Scores with Review of Pathogenesis.
Lagman C, Chung LK, Chitale RV, Yang I
World Neurosurg 2017 Oct;106:206-210. Epub 2017 Jun 30 doi: 10.1016/j.wneu.2017.06.141. PMID: 28673891
Arteriovenous malformations and other vascular malformation syndromes.
Whitehead KJ, Smith MC, Li DY
Cold Spring Harb Perspect Med 2013 Feb 1;3(2):a006635. doi: 10.1101/cshperspect.a006635. PMID: 23125071Free PMC Article
Pearls: myelopathy.
Kumar N
Semin Neurol 2010 Feb;30(1):38-43. Epub 2010 Feb 1 doi: 10.1055/s-0029-1244993. PMID: 20127580

Recent systematic reviews

Coexistence of moyamoya syndrome with arteriovenous malformation. Systematic review and illustrative case report.
Stanishevskiy A, Babichev K, Svistov D, Savello A, Abramyan A, Zelenskiy B
J Clin Neurosci 2024 Mar;121:34-41. Epub 2024 Feb 13 doi: 10.1016/j.jocn.2024.02.004. PMID: 38354649
Multiple brain arteriovenous malformations: systematic review and individual patient data meta-analysis.
Basilio-Flores JE, Aguilar-Melgar JA, Zevallos CB, Aguirre-Carbajo R, Ortega-Gutierrez S, Pacheco-Fernandez Baca H
Neurosurg Rev 2023 Jan 28;46(1):44. doi: 10.1007/s10143-023-01951-3. PMID: 36708432
A systematic review aggregated data and individual participant data meta-analysis of percutaneous endovascular arteriovenous fistula.
Bontinis A, Bontinis V, Koutsoumpelis A, Wilmink T, Giannopoulos A, Rafailidis V, Chorti A, Ktenidis K
J Vasc Surg 2023 Apr;77(4):1252-1261.e3. Epub 2022 Oct 31 doi: 10.1016/j.jvs.2022.10.039. PMID: 36328141
Parkes Weber syndrome-Diagnostic and management paradigms: A systematic review.
Banzic I, Brankovic M, Maksimović Ž, Davidović L, Marković M, Rančić Z
Phlebology 2017 Jul;32(6):371-383. Epub 2016 Aug 9 doi: 10.1177/0268355516664212. PMID: 27511883
Spinal aneurysms: clinicoradiological features and management paradigms.
Madhugiri VS, Ambekar S, Roopesh Kumar VR, Sasidharan GM, Nanda A
J Neurosurg Spine 2013 Jul;19(1):34-48. Epub 2013 Apr 26 doi: 10.3171/2013.3.SPINE121026. PMID: 23621642

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