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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

Genetic testing in the evaluation of individuals with clinical diagnosis of atypical Sturge-Weber syndrome.

Yeom S, Cohen B, Weiss CR, Montano C, Wohler E, Sobreira N, Hammill AM, Comi A
Am J Med Genet A 2023 Apr;191(4):983-994. Epub 2023 Jan 29 doi: 10.1002/ajmg.a.63106. PMID: 36710374

Medical Treatment of Vascular Anomalies.

DeMaio A, New C, Bergmann S
Dermatol Clin 2022 Oct;40(4):461-471. doi: 10.1016/j.det.2022.06.013. PMID: 36243433

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 (215)

Recent clinical studies

Etiology

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

Vascular and Lymphatic Malformations: Perspectives From Human and Vertebrate Studies.

Janardhan HP, Saheera S, Jung R, Trivedi CM
Circ Res 2021 Jun 25;129(1):131-135. Epub 2021 Jun 24 doi: 10.1161/CIRCRESAHA.121.319587. PMID: 34166069 Free PMC Article

Pediatric Congenital Cerebrovascular Anomalies.

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

Pure arterial malformations.

Brinjikji W, Cloft HJ, Flemming KD, Comelli S, Lanzino G
J Neurosurg 2018 Jul;129(1):91-99. Epub 2017 Sep 29 doi: 10.3171/2017.2.JNS1744. PMID: 28960150

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 (1016)

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

Vascular Anomalies: Nomenclature and Diagnosis.

Andrews L, Shope C, Lee LW, Hochman M
Dermatol Clin 2022 Oct;40(4):339-343. doi: 10.1016/j.det.2022.06.007. PMID: 36243421

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

Vascular Anomalies.

Taghinia AH, Upton J
J Hand Surg Am 2018 Dec;43(12):1113-1121. Epub 2018 Jun 12 doi: 10.1016/j.jhsa.2018.03.046. PMID: 29907461

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 (1648)

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

Vascular Anomalies.

Taghinia AH, Upton J
J Hand Surg Am 2018 Dec;43(12):1113-1121. Epub 2018 Jun 12 doi: 10.1016/j.jhsa.2018.03.046. PMID: 29907461

See all (536)

Prognosis

Genetic testing in the evaluation of individuals with clinical diagnosis of atypical Sturge-Weber syndrome.

Yeom S, Cohen B, Weiss CR, Montano C, Wohler E, Sobreira N, Hammill AM, Comi A
Am J Med Genet A 2023 Apr;191(4):983-994. Epub 2023 Jan 29 doi: 10.1002/ajmg.a.63106. PMID: 36710374

Pediatric Congenital Cerebrovascular Anomalies.

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

Vascular Lesions.

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

CLOVES syndrome.

Bloom J, Upton J 3rd
J Hand Surg Am 2013 Dec;38(12):2508-12. Epub 2013 Oct 23 doi: 10.1016/j.jhsa.2013.08.120. PMID: 24161472

Intracranial hemorrhage.

Naidech AM
Am J Respir Crit Care Med 2011 Nov 1;184(9):998-1006. doi: 10.1164/rccm.201103-0475CI. PMID: 22167847 Free PMC Article

See all (580)

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.

Vascular Lesions.

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

Intracranial hemorrhage.

Naidech AM
Am J Respir Crit Care Med 2011 Nov 1;184(9):998-1006. doi: 10.1164/rccm.201103-0475CI. PMID: 22167847 Free PMC Article

See all (503)

Recent systematic reviews

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

Management of vascular malformations in the Oral and maxillofacial region: A systematic review.

Ramakrishnan K, Palanivel I, Narayanan V, Chandran S, Gurram P
J Stomatol Oral Maxillofac Surg 2021 Dec;122(6):588-599. Epub 2021 Jan 2 doi: 10.1016/j.jormas.2020.12.010. PMID: 33400992

Surgery for epilepsy.

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

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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