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Vascular malformation

MedGen UID:: 56387
•Concept ID:: C0158570
•: Anatomical Abnormality

Synonyms:	Malformation, Vascular; Malformations, Vascular; Vascular Malformation; Vascular Malformations
SNOMED CT:	Vascular malformation (783806000); Vascular anomaly (783806000)

Monarch Initiative:	MONDO:0024291

Definition

A non-neoplastic disorder that is the result of defects of vascular morphogenesis. [from MONDO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Vascular malformation

Pathological Conditions, Signs and Symptoms
- Pathological process
  - Disease
    - Disorder by Site
      - Disorder of cardiovascular system
        Abnormality of the cardiovascular system
        Vascular malformation
        Arterio-Arterial Fistula
        Anomalous origin of left coronary artery from the pulmonary artery
        Arteriovenous malformation
        Arteriovenous fistula
        Arteriovenous fistula of pulmonary vessels
        Arteriovenous fistulas of celiac and mesenteric vessels
        Carotid cavernous fistula
        Congenital arteriovenous fistula
        Peripheral arteriovenous fistula
        Arteriovenous Malformation, Intracranial
        Vein of Galen malformation
        Bone arteriovenous malformation
        Gastrointestinal arteriovenous malformation
        Colonic arteriovenous malformation
        Duodenal arteriovenous malformation
        Gastric arteriovenous malformation
        Jejunal arteriovenous malformation
        Rectal arteriovenous malformation
        Hepatic arteriovenous malformation
        Muscle arteriovenous malformation
        Paraspinal arteriovenous malformation
        Pelvic arteriovenous malformation
        Pulmonary arteriovenous malformation
        Spinal arteriovenous malformation
        Uterine arteriovenous malformation
        Celiac artery stenosis from compression by median arcuate ligament of diaphragm
        Hereditary hemorrhagic telangiectasia
        Hereditary hemorrhagic telangiectasia type 3
        Hereditary hemorrhagic telangiectasia type 4
        Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
        Telangiectasia, hereditary hemorrhagic, type 1
        Telangiectasia, hereditary hemorrhagic, type 2
        Telangiectasia, hereditary hemorrhagic, type 5
        May-Thurner syndrome
        Persistent left superior vena cava
        Absent right superior vena cava
        Bilateral superior vena cava
        Bilateral superior vena cava with bridging vein
        Bilateral superior vena cava with no bridging vein
        Left superior vena cava draining directly to the left atrium
        Left superior vena cava draining to coronary sinus
        Pulmonary valve atresia
        Pulmonary atresia with intact ventricular septum
        Pulmonary atresia with ventricular septal defect
        Scimitar syndrome
        Single umbilical artery
        Vascular Fistula
        Vascular malformation of the nervous system
        Central Nervous System Cavernous Hemangioma
        Intracranial cavernous angioma
        Central Nervous System Venous Angioma
        Cerebral arteriovenous malformation
        Cerebral cavernous malformation
        Hereditary cavernous hemangioma of brain
        Meningioangiomatosis
        Sinus pericranii
        Vascular ring

Professional guidelines

PubMed

Intramuscular capillary-type hemangioma: Diagnosis, treatment, and outcomes. A French multicentric retrospective study of 66 cases.

Orly J, Bisdorff A, Fraissenon A, Joly A, Boulouis G, Guibaud L, Tavernier E, Mallet S, Marcelin C, Miquel J, Martin L, Droitcourt C, Gusdorf L, Abasq C, Dadban A, Chiaverini C, Vabres P, Herbreteau D, Boccara O, Wassef M, Maruani A
Eur J Radiol 2023 Aug;165:110962. Epub 2023 Jul 4 doi: 10.1016/j.ejrad.2023.110962. PMID: 37423018

Feasibility of photoacoustic-guided ultrasound treatment for port wine stains.

Chua CJ, Pandey PK, Kelly KM, Xiang L
Lasers Surg Med 2023 Jan;55(1):46-60. Epub 2022 Oct 8 doi: 10.1002/lsm.23609. PMID: 36208102 Free PMC Article

Infantile hemangioma. Part 2: Management.

Sebaratnam DF, Rodríguez Bandera AL, Wong LF, Wargon O
J Am Acad Dermatol 2021 Dec;85(6):1395-1404. Epub 2021 Aug 19 doi: 10.1016/j.jaad.2021.08.020. PMID: 34419523

See all (221)

Recent clinical studies

Etiology

Pulmonary artery sling: An overview.

K Rahmath MR, Durward A
Pediatr Pulmonol 2023 May;58(5):1299-1309. Epub 2023 Feb 24 doi: 10.1002/ppul.26345. PMID: 36790334

Infantile hemangioma. Part 2: Management.

Sebaratnam DF, Rodríguez Bandera AL, Wong LF, Wargon O
J Am Acad Dermatol 2021 Dec;85(6):1395-1404. Epub 2021 Aug 19 doi: 10.1016/j.jaad.2021.08.020. PMID: 34419523

Surgical Considerations in Vascular Malformations.

Johnson AB, Richter GT
Tech Vasc Interv Radiol 2019 Dec;22(4):100635. Epub 2019 Sep 25 doi: 10.1016/j.tvir.2019.100635. PMID: 31864534

Oral and Topical Sirolimus for Vascular Anomalies: A Multicentre Study and Review.

Sandbank S, Molho-Pessach V, Farkas A, Barzilai A, Greenberger S
Acta Derm Venereol 2019 Oct 1;99(11):990-996. doi: 10.2340/00015555-3262. PMID: 31304557

Developmental venous anomalies.

Mooney MA, Zabramski JM
Handb Clin Neurol 2017;143:279-282. doi: 10.1016/B978-0-444-63640-9.00026-6. PMID: 28552150

See all (1030)

Diagnosis

Vascular Lesions.

Urban MJ, Williams EF 3rd
Facial Plast Surg Clin North Am 2024 Feb;32(1):13-25. Epub 2023 Oct 21 doi: 10.1016/j.fsc.2023.09.003. PMID: 37981409

Pediatric vascular anomalies with airway compromise.

Gorostidi F, Glasson N, Salati V, Sandu K
J Oral Pathol Med 2022 Nov;51(10):888-896. Epub 2022 Apr 6 doi: 10.1111/jop.13297. PMID: 35347777 Free PMC Article

Lymphatic malformations.

Kulungowski AM, Patel M
Semin Pediatr Surg 2020 Oct;29(5):150971. Epub 2020 Sep 16 doi: 10.1016/j.sempedsurg.2020.150971. PMID: 33069296

Hamartomas of skin and soft tissue.

Tjarks BJ, Gardner JM, Riddle ND
Semin Diagn Pathol 2019 Jan;36(1):48-61. Epub 2018 Dec 11 doi: 10.1053/j.semdp.2018.12.001. PMID: 30573326

Vascular malformations revisited.

Clemens RK, Pfammatter T, Meier TO, Alomari AI, Amann-Vesti BR
Vasa 2015 Jan;44(1):5-22. doi: 10.1024/0301-1526/a000402. PMID: 25537054

See all (1666)

Therapy

Glue, Onyx, Squid or PHIL? Liquid Embolic Agents for the Embolization of Cerebral Arteriovenous Malformations and Dural Arteriovenous Fistulas.

Vollherbst DF, Chapot R, Bendszus M, Möhlenbruch MA
Clin Neuroradiol 2022 Mar;32(1):25-38. Epub 2021 Jul 29 doi: 10.1007/s00062-021-01066-6. PMID: 34324005 Free PMC Article

Sirolimus (Rapamycin) for Slow-Flow Malformations in Children: The Observational-Phase Randomized Clinical PERFORMUS Trial.

Maruani A, Tavernier E, Boccara O, Mazereeuw-Hautier J, Leducq S, Bessis D, Guibaud L, Vabres P, Carmignac V, Mallet S, Barbarot S, Chiaverini C, Droitcourt C, Bursztejn AC, Lengellé C, Woillard JB, Herbreteau D, Le Touze A, Joly A, Léauté-Labrèze C, Powell J, Bourgoin H, Gissot V, Giraudeau B, Morel B
JAMA Dermatol 2021 Nov 1;157(11):1289-1298. doi: 10.1001/jamadermatol.2021.3459. PMID: 34524406 Free PMC Article

Infantile hemangioma. Part 2: Management.

Sebaratnam DF, Rodríguez Bandera AL, Wong LF, Wargon O
J Am Acad Dermatol 2021 Dec;85(6):1395-1404. Epub 2021 Aug 19 doi: 10.1016/j.jaad.2021.08.020. PMID: 34419523

Surgery for epilepsy.

West S, Nevitt SJ, Cotton J, Gandhi S, Weston J, Sudan A, Ramirez R, Newton R
Cochrane Database Syst Rev 2019 Jun 25;6(6):CD010541. doi: 10.1002/14651858.CD010541.pub3. PMID: 31237346 Free PMC Article

Efficacy of thalidomide for refractory gastrointestinal bleeding from vascular malformation.

Ge ZZ, Chen HM, Gao YJ, Liu WZ, Xu CH, Tan HH, Chen HY, Wei W, Fang JY, Xiao SD
Gastroenterology 2011 Nov;141(5):1629-37.e1-4. Epub 2011 Jul 22 doi: 10.1053/j.gastro.2011.07.018. PMID: 21784047

See all (544)

Prognosis

Vascular Lesions.

Jahnke MN
Pediatr Ann 2016 Aug 1;45(8):e299-305. doi: 10.3928/19382359-20160720-08. PMID: 27517358

Natural history and treatment of craniocervical junction dural arteriovenous fistulas.

Wang JY, Molenda J, Bydon A, Colby GP, Coon AL, Tamargo RJ, Huang J
J Clin Neurosci 2015 Nov;22(11):1701-7. Epub 2015 Jul 17 doi: 10.1016/j.jocn.2015.05.014. PMID: 26195333

Orthopedic issues in vascular anomalies.

Spencer SA, Sorger J
Semin Pediatr Surg 2014 Aug;23(4):227-32. Epub 2014 Jun 19 doi: 10.1053/j.sempedsurg.2014.06.015. PMID: 25241103

Sturge-Weber syndrome.

Nabbout R, Juhász C
Handb Clin Neurol 2013;111:315-21. doi: 10.1016/B978-0-444-52891-9.00037-3. PMID: 23622182

Spinal vascular malformations.

Krings T, Mull M, Gilsbach JM, Thron A
Eur Radiol 2005 Feb;15(2):267-78. Epub 2004 Oct 22 doi: 10.1007/s00330-004-2510-2. PMID: 15538580

See all (591)

Clinical prediction guides

Sirolimus (Rapamycin) for Slow-Flow Malformations in Children: The Observational-Phase Randomized Clinical PERFORMUS Trial.

Lymphatic malformations.

Kulungowski AM, Patel M
Semin Pediatr Surg 2020 Oct;29(5):150971. Epub 2020 Sep 16 doi: 10.1016/j.sempedsurg.2020.150971. PMID: 33069296

Surgery for epilepsy.

Spinal vascular malformations: treatment strategies and outcome.

Flores BC, Klinger DR, White JA, Batjer HH
Neurosurg Rev 2017 Jan;40(1):15-28. Epub 2016 Apr 13 doi: 10.1007/s10143-016-0713-z. PMID: 27075861

Efficacy of thalidomide for refractory gastrointestinal bleeding from vascular malformation.

Ge ZZ, Chen HM, Gao YJ, Liu WZ, Xu CH, Tan HH, Chen HY, Wei W, Fang JY, Xiao SD
Gastroenterology 2011 Nov;141(5):1629-37.e1-4. Epub 2011 Jul 22 doi: 10.1053/j.gastro.2011.07.018. PMID: 21784047

See all (509)

Recent systematic reviews

Defining vascular anomaly phenotypes in children based on a systematic literature search: A critical step in developing a single severity score for interventional clinical trials.

Gariépy-Assal L, Dubois J, Zwicker K, Pincivy A, Powell J, Zhang Y, Breakey V, Price V, Brandão LR, Carcao M, Kleiber N
Pediatr Blood Cancer 2022 Oct;69(10):e29869. Epub 2022 Jul 20 doi: 10.1002/pbc.29869. PMID: 35731233

Surgical Treatment of Peripheral Vascular Malformations: A Systematic Review and Meta-Analysis.

Lokhorst MM, Jolink F, Horbach SER, Spuls PI, van der Horst CMAM
Plast Reconstr Surg 2021 May 1;147(5):1149-1161. doi: 10.1097/PRS.0000000000007837. PMID: 33890897

Surgery for epilepsy.

Interdisciplinary treatment algorithm for facial high-flow arteriovenous malformations, and review of the literature.

Kansy K, Bodem J, Engel M, Freudlsperger C, Möhlenbruch MA, Herweh C, Bendszus M, Hoffmann J, Kargus S
J Craniomaxillofac Surg 2018 May;46(5):765-772. Epub 2018 Mar 9 doi: 10.1016/j.jcms.2018.03.002. PMID: 29609843

Surgery for epilepsy.

West S, Nolan SJ, Cotton J, Gandhi S, Weston J, Sudan A, Ramirez R, Newton R
Cochrane Database Syst Rev 2015 Jul 1;(7):CD010541. doi: 10.1002/14651858.CD010541.pub2. PMID: 26130264

See all (39)

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Vascular malformation

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Clinical resources

Practice guidelines

Consumer resources

Reviews

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