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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.
 
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.
Abnormal cerebral vascular morphology
MedGen UID:
867613
Concept ID:
C4022001
Anatomical Abnormality
An anomaly of the cerebral blood vessels.
Lymphedema
MedGen UID:
6155
Concept ID:
C0024236
Disease or Syndrome
Localized fluid retention and tissue swelling caused by a compromised lymphatic system.

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

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
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
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

Recent clinical studies

Etiology

AlShamekh S
Dermatol Clin 2022 Oct;40(4):445-448. doi: 10.1016/j.det.2022.06.012. PMID: 36243431
John PR
Tech Vasc Interv Radiol 2019 Dec;22(4):100634. Epub 2019 Sep 23 doi: 10.1016/j.tvir.2019.100634. PMID: 31864529
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
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
Cartin-Ceba R, Swanson KL, Krowka MJ
Chest 2013 Sep;144(3):1033-1044. doi: 10.1378/chest.12-0924. PMID: 24008954

Diagnosis

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
AlShamekh S
Dermatol Clin 2022 Oct;40(4):445-448. doi: 10.1016/j.det.2022.06.012. PMID: 36243431
Lee HN, Hyun D
Korean J Radiol 2022 Feb;23(2):202-217. Epub 2022 Jan 4 doi: 10.3348/kjr.2021.0417. PMID: 35029077Free PMC Article
John PR
Tech Vasc Interv Radiol 2019 Dec;22(4):100634. Epub 2019 Sep 23 doi: 10.1016/j.tvir.2019.100634. PMID: 31864529
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

Arasu R, Jegatheesan D, Sivakumaran Y
Can Fam Physician 2022 Aug;68(8):577-582. doi: 10.46747/cfp.6808577. PMID: 35961720Free PMC Article
John PR
Tech Vasc Interv Radiol 2019 Dec;22(4):100634. Epub 2019 Sep 23 doi: 10.1016/j.tvir.2019.100634. PMID: 31864529
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
Le Daré B, Gicquel T
J Pharm Pharm Sci 2019;22(1):525-535. doi: 10.18433/jpps30572. PMID: 31604058
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

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
Miao HL, Zhang DY, Wang T, Jiao XT, Jiao LQ
Int J Med Sci 2020;17(18):3005-3019. Epub 2020 Oct 18 doi: 10.7150/ijms.49137. PMID: 33173421Free PMC Article
Goyal P, Mangla R, Gupta S, Malhotra A, Almast J, Sapire J, Kolar B
J Neuroimaging 2019 Mar;29(2):165-181. Epub 2018 Oct 31 doi: 10.1111/jon.12575. PMID: 30378722
Cartin-Ceba R, Swanson KL, Krowka MJ
Chest 2013 Sep;144(3):1033-1044. doi: 10.1378/chest.12-0924. PMID: 24008954
Kumar N
Semin Neurol 2010 Feb;30(1):38-43. Epub 2010 Feb 1 doi: 10.1055/s-0029-1244993. PMID: 20127580

Clinical prediction guides

El Hajjam M, Mekki A, Palmyre A, Eyries M, Soubrier F, Bourgault Villada I, Ozanne A, Carlier RY, Chinet T
J Med Genet 2021 Sep;58(9):645-647. Epub 2020 Sep 8 doi: 10.1136/jmedgenet-2019-106792. PMID: 32900839
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
Patel KH, Kalevar A, McDonald HR, Johnson RN
Retin Cases Brief Rep 2017 Winter;11 Suppl 1:S11-S13. doi: 10.1097/ICB.0000000000000384. PMID: 27533644
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
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

Dimagli A, Malas J, Chen S, Sandner S, Schwann T, Tatoulis J, Puskas J, Bowdish ME, Gaudino M
Ann Thorac Surg 2024 May;117(5):887-896. Epub 2023 Dec 9 doi: 10.1016/j.athoracsur.2023.11.033. PMID: 38081498
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
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
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
Zarrabeitia R, Albiñana V, Salcedo M, Señaris-Gonzalez B, Fernandez-Forcelledo JL, Botella LM
Curr Vasc Pharmacol 2010 Jul;8(4):473-81. doi: 10.2174/157016110791330771. PMID: 19485912

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