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Congenital vascular malformation

MedGen UID:
743837
•Concept ID:
C1961121
•
Congenital Abnormality
Synonyms: Congenital vascular abnormality; Congenital vascular anomaly; congenital vascular malformation; Vascular Malformation; Vascular malformation; VM - Vascular malformation
SNOMED CT: Congenital vascular malformation (400159008); Congenital vascular abnormality (399982001); VM - Vascular malformation (400159008); Vascular malformation (400159008); Congenital vascular anomaly (400159008)
 
Monarch Initiative: MONDO:0024287

Definition

A congenital abnormality of the arteries and veins, lymph vessels or veins and lymph vessels. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital vascular malformation

Professional guidelines

PubMed

Characteristics, clinical presentation, and treatment outcomes of venous malformation in the extremities.
Kim H, Joh J, Labropoulos N
J Vasc Surg Venous Lymphat Disord 2022 Jan;10(1):152-158. Epub 2021 Jun 4 doi: 10.1016/j.jvsv.2021.05.011. PMID: 34091104
Treatment Update of Port-Wine Stain: A Narrative Review.
Fölster-Holst R, Shukla R, Kassir M, Galadari H, Lotti T, Wollina U, Grabbe S, Goldust M
J Drugs Dermatol 2021 May 1;20(5):515-518. doi: 10.36849/JDD.5005. PMID: 33938700
Treatment of Venous Malformations: The Data, Where We Are, and How It Is Done.
Hage AN, Chick JFB, Srinivasa RN, Bundy JJ, Chauhan NR, Acord M, Gemmete JJ
Tech Vasc Interv Radiol 2018 Jun;21(2):45-54. Epub 2018 Mar 8 doi: 10.1053/j.tvir.2018.03.001. PMID: 29784122

Recent clinical studies

Etiology

Individualized treatment of congenital vascular malformations of the tongue.
Guntau M, Cucuruz B, Brill R, Bidakov O, Von der Heydt S, Deistung A, Wohlgemuth WA
Clin Hemorheol Microcirc 2023;83(4):421-429. doi: 10.3233/CH-221683. PMID: 36846994
Characteristics, clinical presentation, and treatment outcomes of venous malformation in the extremities.
Kim H, Joh J, Labropoulos N
J Vasc Surg Venous Lymphat Disord 2022 Jan;10(1):152-158. Epub 2021 Jun 4 doi: 10.1016/j.jvsv.2021.05.011. PMID: 34091104
The Applications of Medical Tattooing in the Head and Neck Region.
Hou Z, Lee PK
Facial Plast Surg 2019 Jun;35(3):256-259. Epub 2019 Jun 12 doi: 10.1055/s-0039-1688842. PMID: 31189198
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
Verrucous hemangioma.
Klein JA, Barr RJ
Pediatr Dermatol 1985 Mar;2(3):191-3. doi: 10.1111/j.1525-1470.1985.tb01050.x. PMID: 3991374

Diagnosis

Diagnosis and surgical repair of congenital double aortic arch in infants.
Yang Y, Jin X, Pan Z, Li Y, Wu C
J Cardiothorac Surg 2019 Sep 9;14(1):160. doi: 10.1186/s13019-019-0976-x. PMID: 31500640Free PMC Article
Treatment of Venous Malformations: The Data, Where We Are, and How It Is Done.
Hage AN, Chick JFB, Srinivasa RN, Bundy JJ, Chauhan NR, Acord M, Gemmete JJ
Tech Vasc Interv Radiol 2018 Jun;21(2):45-54. Epub 2018 Mar 8 doi: 10.1053/j.tvir.2018.03.001. PMID: 29784122
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
Venous malformation and haemangioma: differential diagnosis, diagnosis, natural history and consequences.
Lee BB
Phlebology 2013 Mar;28 Suppl 1:176-87. doi: 10.1177/0268355513475960. PMID: 23482556
Verrucous hemangioma.
Klein JA, Barr RJ
Pediatr Dermatol 1985 Mar;2(3):191-3. doi: 10.1111/j.1525-1470.1985.tb01050.x. PMID: 3991374

Therapy

Individualized treatment of congenital vascular malformations of the tongue.
Guntau M, Cucuruz B, Brill R, Bidakov O, Von der Heydt S, Deistung A, Wohlgemuth WA
Clin Hemorheol Microcirc 2023;83(4):421-429. doi: 10.3233/CH-221683. PMID: 36846994
Treatment Update of Port-Wine Stain: A Narrative Review.
Fölster-Holst R, Shukla R, Kassir M, Galadari H, Lotti T, Wollina U, Grabbe S, Goldust M
J Drugs Dermatol 2021 May 1;20(5):515-518. doi: 10.36849/JDD.5005. PMID: 33938700
The Pathogenesis of Port Wine Stain and Sturge Weber Syndrome: Complex Interactions between Genetic Alterations and Aberrant MAPK and PI3K Activation.
Nguyen V, Hochman M, Mihm MC Jr, Nelson JS, Tan W
Int J Mol Sci 2019 May 7;20(9) doi: 10.3390/ijms20092243. PMID: 31067686Free PMC Article
Treatment of Venous Malformations: The Data, Where We Are, and How It Is Done.
Hage AN, Chick JFB, Srinivasa RN, Bundy JJ, Chauhan NR, Acord M, Gemmete JJ
Tech Vasc Interv Radiol 2018 Jun;21(2):45-54. Epub 2018 Mar 8 doi: 10.1053/j.tvir.2018.03.001. PMID: 29784122
Diagnosis and Treatment of Venous Malformations. Consensus Document of the International Union of Phlebology (IUP): updated 2013.
Lee BB, Baumgartner I, Berlien P, Bianchini G, Burrows P, Gloviczki P, Huang Y, Laredo J, Loose DA, Markovic J, Mattassi R, Parsi K, Rabe E, Rosenblatt M, Shortell C, Stillo F, Vaghi M, Villavicencio L, Zamboni P; International Union of Phlebology
Int Angiol 2015 Apr;34(2):97-149. PMID: 24566499

Prognosis

Clinical presentation of simple and combined or syndromic arteriovenous malformations.
Bernhard SM, Tuleja A, Laine JE, Haupt F, Häberli D, Hügel U, Rössler J, Schindewolf M, Baumgartner I
J Vasc Surg Venous Lymphat Disord 2022 May;10(3):705-712. Epub 2021 Oct 11 doi: 10.1016/j.jvsv.2021.10.002. PMID: 34649003
Capillary-venule malformation is a microfistulous variant of arteriovenous malformation.
Vuillemin N, Bernhard S, Haine A, Schindewolf M, Häberli D, Hügel U, Obrist D, Baumgartner I
J Vasc Surg Venous Lymphat Disord 2021 Jan;9(1):220-225. Epub 2020 May 26 doi: 10.1016/j.jvsv.2020.05.012. PMID: 32470616
Vein of Galen Aneurysmal Malformation: Advances in Management and Endovascular treatment.
Berenstein A, Paramasivam S, Sorscher M, Molofsky W, Meila D, Ghatan S
Neurosurgery 2019 Feb 1;84(2):469-478. doi: 10.1093/neuros/nyy100. PMID: 29860355
Venous malformation and haemangioma: differential diagnosis, diagnosis, natural history and consequences.
Lee BB
Phlebology 2013 Mar;28 Suppl 1:176-87. doi: 10.1177/0268355513475960. PMID: 23482556
Intracerebral venous angioma.
Wendling ?LR, Moore JS Jr, Kieffer SA, Goldberg HI, Latchaw RE
Radiology 1976 Apr;119(1):141-7. doi: 10.1148/119.1.141. PMID: 1257434

Clinical prediction guides

Early diagnosis enabling precision medicine treatment in a young boy with PIK3R1-related overgrowth.
Schönewolf-Greulich B, Karstensen HG, Hjortshøj TD, Jørgensen FS, Harder KM, Frevert S, Hove H, Diness BR
Eur J Med Genet 2022 Oct;65(10):104590. Epub 2022 Aug 11 doi: 10.1016/j.ejmg.2022.104590. PMID: 35964931
Vein of Galen Aneurysmal Malformation: Advances in Management and Endovascular treatment.
Berenstein A, Paramasivam S, Sorscher M, Molofsky W, Meila D, Ghatan S
Neurosurgery 2019 Feb 1;84(2):469-478. doi: 10.1093/neuros/nyy100. PMID: 29860355
Rat Model of Parkes Weber Syndrome.
Bojakowski K, Janusz G, Grabowska I, Zegrocka-Stendel O, Surowiecka-Pastewka A, Kowalewska M, Maciejko D, Koziak K
PLoS One 2015;10(7):e0133752. Epub 2015 Jul 28 doi: 10.1371/journal.pone.0133752. PMID: 26217941Free PMC Article
Diagnosis and Treatment of Venous Malformations. Consensus Document of the International Union of Phlebology (IUP): updated 2013.
Lee BB, Baumgartner I, Berlien P, Bianchini G, Burrows P, Gloviczki P, Huang Y, Laredo J, Loose DA, Markovic J, Mattassi R, Parsi K, Rabe E, Rosenblatt M, Shortell C, Stillo F, Vaghi M, Villavicencio L, Zamboni P; International Union of Phlebology
Int Angiol 2015 Apr;34(2):97-149. PMID: 24566499
Venous malformation and haemangioma: differential diagnosis, diagnosis, natural history and consequences.
Lee BB
Phlebology 2013 Mar;28 Suppl 1:176-87. doi: 10.1177/0268355513475960. PMID: 23482556

Recent systematic reviews

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

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