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Capillary malformation-arteriovenous malformation syndrome(CMAVM)

MedGen UID:
334007
•Concept ID:
C1842180
•
Disease or Syndrome
Synonym: Capillary malformation-arteriovenous malformation
SNOMED CT: Capillary malformation-arteriovenous malformation syndrome (703533007)
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.
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Autosomal dominant inheritance (Orphanet)
Not genetically inherited (Orphanet)
 
Gene (location): EPHB4 (7q22.1)
 
Monarch Initiative: MONDO:0012016
OMIM®: 608354
OMIM® Phenotypic series: PS608354
Orphanet: ORPHA137667

Disease characteristics

Excerpted from the GeneReview: Capillary Malformation-Arteriovenous Malformation Syndrome
Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is characterized by the presence of multiple small (1-2 cm in diameter) capillary malformations mostly localized on the face and limbs. Some affected individuals also have associated arteriovenous malformations (AVMs) and/or arteriovenous fistulas (AFVs), fast-flow vascular anomalies that typically arise in the skin, muscle, bone, spine, and brain; life-threatening complications of these lesions can include bleeding, congestive heart failure, and/or neurologic consequences. Symptoms from intracranial AVMs/AVFs appear to occur early in life. Several individuals have Parkes Weber syndrome (multiple micro-AVFs associated with a cutaneous capillary stain and excessive soft-tissue and skeletal growth of an affected limb). [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  GeneReview Scope  |  Diagnosis  |  Clinical Characteristics  |  Genetically Related (Allelic) Disorders  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  Chapter Notes  |  References
Authors:
Pinar Bayrak-Toydemir  |  David A Stevenson   view full author information

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCapillary malformation-arteriovenous malformation syndrome
Follow this link to review classifications for Capillary malformation-arteriovenous malformation syndrome in Orphanet.

Professional guidelines

PubMed

Capillary malformation--arteriovenous malformation syndrome: review of the literature, proposed diagnostic criteria, and recommendations for management.
Orme CM, Boyden LM, Choate KA, Antaya RJ, King BA
Pediatr Dermatol 2013 Jul-Aug;30(4):409-15. Epub 2013 May 13 doi: 10.1111/pde.12112. PMID: 23662773

Recent clinical studies

Etiology

RASopathies for Radiologists.
Handa A, Tsujioka Y, Nishimura G, Nozaki T, Kono T, Jinzaki M, Harms T, Connolly SA, Sato TS, Sato Y
Radiographics 2024 May;44(5):e230153. doi: 10.1148/rg.230153. PMID: 38602868
RASopathies: Dermatologists' viewpoints.
Palit A, Inamadar AC
Indian J Dermatol Venereol Leprol 2022 May-Jun;88(4):452-463. doi: 10.25259/IJDVL_799_20. PMID: 35138057
RhoA activation-mediated vascular permeability in capillary malformation-arteriovenous malformation syndrome: a hypothesis.
Eisa-Beygi S, Vo NJ, Link BA
Drug Discov Today 2021 Aug;26(8):1790-1793. Epub 2020 Dec 24 doi: 10.1016/j.drudis.2020.12.012. PMID: 33358701
A review of craniofacial and dental findings of the RASopathies.
Cao H, Alrejaye N, Klein OD, Goodwin AF, Oberoi S
Orthod Craniofac Res 2017 Jun;20 Suppl 1(Suppl 1):32-38. doi: 10.1111/ocr.12144. PMID: 28643916Free PMC Article
The RASopathies.
Rauen KA
Annu Rev Genomics Hum Genet 2013;14:355-69. Epub 2013 Jul 15 doi: 10.1146/annurev-genom-091212-153523. PMID: 23875798Free PMC Article

Diagnosis

Prenatal Clinical Findings in RASA1-Related Capillary Malformation-Arteriovenous Malformation Syndrome.
Coccia E, Valeri L, Zuntini R, Caraffi SG, Peluso F, Pagliai L, Vezzani A, Pietrangiolillo Z, Leo F, Melli N, Fiorini V, Greco A, Lepri FR, Pisaneschi E, Marozza A, Carli D, Mussa A, Radio FC, Conti B, Iascone M, Gargano G, Novelli A, Tartaglia M, Zuffardi O, Bedeschi MF, Garavelli L
Genes (Basel) 2023 Feb 22;14(3) doi: 10.3390/genes14030549. PMID: 36980822Free PMC Article
The genetics of vascular birthmarks.
Mahajan P, Bergstrom KL, Phung TL, Metry DW
Clin Dermatol 2022 Jul-Aug;40(4):313-321. Epub 2022 Feb 16 doi: 10.1016/j.clindermatol.2022.02.006. PMID: 35181412
RASopathies: Dermatologists' viewpoints.
Palit A, Inamadar AC
Indian J Dermatol Venereol Leprol 2022 May-Jun;88(4):452-463. doi: 10.25259/IJDVL_799_20. PMID: 35138057
Capillary malformation-arteriovenous malformation syndrome: a multicentre study.
Valdivielso-Ramos M, Martin-Santiago A, Azaña JM, Hernández-Nuñez A, Vera A, Perez B, Tercedor J, Feito M, Vicente A, Prat C, Lopez-Gutierrez JC, Garnacho G, Baselga E, Roe E, Palencia S, Cordero P, Moreno R, Agudo A, de la Cueva P, Torrelo A
Clin Exp Dermatol 2021 Mar;46(2):300-305. Epub 2020 Oct 20 doi: 10.1111/ced.14428. PMID: 32840927
Multifocal vascular lesions.
Levin LE, Lauren CT
Semin Cutan Med Surg 2016 Sep;35(3):153-60. doi: 10.12788/j.sder.2016.054. PMID: 27607324

Therapy

Good response to pulsed dye laser in patients with capillary malformation-arteriovenous malformation syndrome (CM-AVM).
Iznardo H, Roé E, Puig L, Vikula M, López-Sánchez C, Baselga E
Pediatr Dermatol 2020 Mar;37(2):342-344. Epub 2020 Jan 15 doi: 10.1111/pde.14095. PMID: 31944370
Atypical capillary malformations with subsequent diplegia: A difficult case of capillary malformation-arteriovenous malformation syndrome.
Plumptre I, Robertson F, Rennie A, James G, Syed SB
Pediatr Dermatol 2020 Jan;37(1):162-164. Epub 2019 Nov 20 doi: 10.1111/pde.14029. PMID: 31746477

Prognosis

Prevalence and Predictors of Hereditary Hemorrhagic Telangiectasia and Capillary-Malformation Arteriovenous Malformation Syndrome Among Children with Neurovascular Malformations.
Engel ER, Wusik K, Bright P, Vadivelu S, Taylor JM, Hammill A
J Pediatr 2024 Jan;264:113761. Epub 2023 Oct 4 doi: 10.1016/j.jpeds.2023.113761. PMID: 37797790
Capillary malformation-arteriovenous malformation syndrome: a multicentre study.
Valdivielso-Ramos M, Martin-Santiago A, Azaña JM, Hernández-Nuñez A, Vera A, Perez B, Tercedor J, Feito M, Vicente A, Prat C, Lopez-Gutierrez JC, Garnacho G, Baselga E, Roe E, Palencia S, Cordero P, Moreno R, Agudo A, de la Cueva P, Torrelo A
Clin Exp Dermatol 2021 Mar;46(2):300-305. Epub 2020 Oct 20 doi: 10.1111/ced.14428. PMID: 32840927
A Typical Vascular and Pigmentary Dermoscopic Pattern of Capillary Malformations in Capillary Malformation-Arteriovenous Malformation Syndrome: Report of Four Cases.
Gandon C, Bonniaud B, Collet E, Dalac S, Jeudy G, Vabres P
Pediatr Dermatol 2016 Sep;33(5):e337-41. Epub 2016 Aug 2 doi: 10.1111/pde.12937. PMID: 27480194
A spectrum of intracranial vascular high-flow arteriovenous shunts in RASA1 mutations.
Grillner P, Söderman M, Holmin S, Rodesch G
Childs Nerv Syst 2016 Apr;32(4):709-15. Epub 2015 Oct 24 doi: 10.1007/s00381-015-2940-y. PMID: 26499346
The potential of capillary birthmarks as a significant marker for capillary malformation-arteriovenous malformation syndrome in children who had nontraumatic cerebral hemorrhage.
Chee D, Phillips R, Maixner W, Southwell BR, Hutson JM
J Pediatr Surg 2010 Dec;45(12):2419-22. doi: 10.1016/j.jpedsurg.2010.08.043. PMID: 21129558

Clinical prediction guides

Prevalence and Predictors of Hereditary Hemorrhagic Telangiectasia and Capillary-Malformation Arteriovenous Malformation Syndrome Among Children with Neurovascular Malformations.
Engel ER, Wusik K, Bright P, Vadivelu S, Taylor JM, Hammill A
J Pediatr 2024 Jan;264:113761. Epub 2023 Oct 4 doi: 10.1016/j.jpeds.2023.113761. PMID: 37797790
Central nervous system screening in capillary malformation-arteriovenous malformation syndrome: An observational study.
Boccara O, Mazereeuw J, Martin L, Bessis D, Hubiche T, Chiaverini C, Dompmartin A, Mallet S, Miquel J, Aubert H, Puzenat E, Abasq C, Gusdorf L, Hadj-Rabia S, Maruani A; Groupe de Recherche Clinique de Dermatologie Pédiatrique (GRDP,); Filière Maladies rares Dermatologiques (FIMARAD)
J Am Acad Dermatol 2022 Oct;87(4):914-916. Epub 2021 Dec 24 doi: 10.1016/j.jaad.2021.12.030. PMID: 34954287
Capillary malformation-arteriovenous malformation syndrome: a multicentre study.
Valdivielso-Ramos M, Martin-Santiago A, Azaña JM, Hernández-Nuñez A, Vera A, Perez B, Tercedor J, Feito M, Vicente A, Prat C, Lopez-Gutierrez JC, Garnacho G, Baselga E, Roe E, Palencia S, Cordero P, Moreno R, Agudo A, de la Cueva P, Torrelo A
Clin Exp Dermatol 2021 Mar;46(2):300-305. Epub 2020 Oct 20 doi: 10.1111/ced.14428. PMID: 32840927
Hypotrichosis associated with capillary malformation-arteriovenous malformation syndrome.
Martín-Santiago A, Knöpfel N, del Pozo J, Escalas J, Bartolomé B, Janer V, Pascual M, Nieto C, Hervás JA
Br J Dermatol 2015 Feb;172(2):450-4. Epub 2014 Dec 11 doi: 10.1111/bjd.13287. PMID: 25059281
The potential of capillary birthmarks as a significant marker for capillary malformation-arteriovenous malformation syndrome in children who had nontraumatic cerebral hemorrhage.
Chee D, Phillips R, Maixner W, Southwell BR, Hutson JM
J Pediatr Surg 2010 Dec;45(12):2419-22. doi: 10.1016/j.jpedsurg.2010.08.043. PMID: 21129558

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