U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Complex vascular malformation with associated anomalies

MedGen UID:
1826056
•Concept ID:
C5679799
•
Congenital Abnormality
Synonym: Hemangiolymphangioma
 
Orphanet: ORPHA211277

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVComplex vascular malformation with associated anomalies

Professional guidelines

PubMed

Genomic profiling informs diagnoses and treatment in vascular anomalies.
Li D, Sheppard SE, March ME, Battig MR, Surrey LF, Srinivasan AS, Matsuoka LS, Tian L, Wang F, Seiler C, Dayneka J, Borst AJ, Matos MC, Paulissen SM, Krishnamurthy G, Nriagu B, Sikder T, Casey M, Williams L, Rangu S, O'Connor N, Thomas A, Pinto E, Hou C, Nguyen K, Pellegrino da Silva R, Chehimi SN, Kao C, Biroc L, Britt AD, Queenan M, Reid JR, Napoli JA, Low DM, Vatsky S, Treat J, Smith CL, Cahill AM, Snyder KM, Adams DM, Dori Y, Hakonarson H
Nat Med 2023 Jun;29(6):1530-1539. Epub 2023 Jun 1 doi: 10.1038/s41591-023-02364-x. PMID: 37264205Free PMC Article
Genotype-phenotype correlation in clubfoot (talipes equinovarus).
Hordyjewska-Kowalczyk E, Nowosad K, Jamsheer A, Tylzanowski P
J Med Genet 2022 Mar;59(3):209-219. Epub 2021 Nov 15 doi: 10.1136/jmedgenet-2021-108040. PMID: 34782442
Vascular anomalies: molecular bases, genetic testing and therapeutic approaches.
Paolacci S, Zulian A, Bruson A, Manara E, Michelini S, Mattassi RE, Lee BB, Amato B, Bertelli M
Int Angiol 2019 Apr;38(2):157-170. Epub 2019 Apr 1 doi: 10.23736/S0392-9590.19.04154-3. PMID: 30938497

Recent clinical studies

Etiology

Neonatal intracranial haemorrhage secondary to vein of Galen aneurysmal dilatation.
Wu Y, Chia GS, Tan TSE, Lim WEH, Toh LHW, Low SYY
Childs Nerv Syst 2024 Sep;40(9):2973-2976. Epub 2024 Jun 10 doi: 10.1007/s00381-024-06481-x. PMID: 38856744
Multidisciplinary management of a rare case of mixed total anomalous pulmonary venous connection.
Ghidini F, Castaldi B, Padalino M, Dall'Igna P
J Card Surg 2021 Jul;36(7):2562-2564. Epub 2021 Mar 29 doi: 10.1111/jocs.15545. PMID: 33783038
Klippel-Trenaunay Syndrome.
John PR
Tech Vasc Interv Radiol 2019 Dec;22(4):100634. Epub 2019 Sep 23 doi: 10.1016/j.tvir.2019.100634. PMID: 31864529
Overgrowth syndromes with vascular malformations.
Hagen SL, Hook KP
Semin Cutan Med Surg 2016 Sep;35(3):161-9. doi: 10.12788/j.sder.2016.049. PMID: 27607325
Migraine and cardiovascular diseases.
Pierangeli G, Giannini G, Favoni V, Sambati L, Cevoli S, Cortelli P
Neurol Sci 2012 May;33 Suppl 1:S47-50. doi: 10.1007/s10072-012-1040-y. PMID: 22644170

Diagnosis

Genomic profiling informs diagnoses and treatment in vascular anomalies.
Li D, Sheppard SE, March ME, Battig MR, Surrey LF, Srinivasan AS, Matsuoka LS, Tian L, Wang F, Seiler C, Dayneka J, Borst AJ, Matos MC, Paulissen SM, Krishnamurthy G, Nriagu B, Sikder T, Casey M, Williams L, Rangu S, O'Connor N, Thomas A, Pinto E, Hou C, Nguyen K, Pellegrino da Silva R, Chehimi SN, Kao C, Biroc L, Britt AD, Queenan M, Reid JR, Napoli JA, Low DM, Vatsky S, Treat J, Smith CL, Cahill AM, Snyder KM, Adams DM, Dori Y, Hakonarson H
Nat Med 2023 Jun;29(6):1530-1539. Epub 2023 Jun 1 doi: 10.1038/s41591-023-02364-x. PMID: 37264205Free PMC Article
Klippel-Trenaunay Syndrome.
John PR
Tech Vasc Interv Radiol 2019 Dec;22(4):100634. Epub 2019 Sep 23 doi: 10.1016/j.tvir.2019.100634. PMID: 31864529
Overgrowth syndromes with vascular malformations.
Hagen SL, Hook KP
Semin Cutan Med Surg 2016 Sep;35(3):161-9. doi: 10.12788/j.sder.2016.049. PMID: 27607325
Microcephaly-capillary malformation syndrome: Brothers with a homozygous STAMBP mutation, uncovered by exome sequencing.
Naseer MI, Sogaty S, Rasool M, Chaudhary AG, Abutalib YA, Walker S, Marshall CR, Merico D, Carter MT, Scherer SW, Al-Qahtani MH, Zarrei M
Am J Med Genet A 2016 Nov;170(11):3018-3022. Epub 2016 Aug 17 doi: 10.1002/ajmg.a.37845. PMID: 27531570
Role of 64-MDCT in evaluation of pulmonary atresia with ventricular septal defect.
Rajeshkannan R, Moorthy S, Sreekumar KP, Ramachandran PV, Kumar RK, Remadevi KS
AJR Am J Roentgenol 2010 Jan;194(1):110-8. doi: 10.2214/AJR.09.2802. PMID: 20028912

Therapy

Treatment of superficial vascular anomalies with topical sirolimus: A multicenter case series.
Dodds M, Tollefson M, Castelo-Soccio L, Garzon MC, Hogeling M, Hook K, Boull C, Maguiness S
Pediatr Dermatol 2020 Mar;37(2):272-277. Epub 2020 Jan 19 doi: 10.1111/pde.14104. PMID: 31957126
Klippel-Trenaunay Syndrome.
John PR
Tech Vasc Interv Radiol 2019 Dec;22(4):100634. Epub 2019 Sep 23 doi: 10.1016/j.tvir.2019.100634. PMID: 31864529
Elective left pulmonary artery embolisation for pulmonary arteriovenous malformations secondary to cavopulmonary anastomoses not responsive to heart transplantation: a case report.
Bebawy CM, Gordon BM, Bock MJ
Cardiol Young 2019 Nov;29(11):1404-1406. Epub 2019 Sep 13 doi: 10.1017/S1047951119002130. PMID: 31514756
Tuberous Sclerosis Complex Associated with Vascular Anomalies or Overgrowth.
Jenkins D, McCuaig C, Drolet BA, Siegel D, Adams S, Lawson JA, Wargon O
Pediatr Dermatol 2016 Sep;33(5):536-42. Epub 2016 Jul 28 doi: 10.1111/pde.12946. PMID: 27470532
Case of double-outlet right ventricle after repair with pulmonary arteriovenous malformations using cardiac CT.
Beegle RD, Mastin ST, Chandran A
J Cardiovasc Comput Tomogr 2014 Sep-Oct;8(5):401-3. Epub 2014 May 29 doi: 10.1016/j.jcct.2014.05.003. PMID: 24998091

Prognosis

Orthopedic issues in vascular anomalies.
Spencer SA, Sorger JI
Semin Pediatr Surg 2020 Oct;29(5):150973. Epub 2020 Sep 19 doi: 10.1016/j.sempedsurg.2020.150973. PMID: 33069292
De novo formation of a large cavernoma associated with a congenital torcular dural arteriovenous fistula: case report.
Brinjikji W, Flemming KD, Lanzino G
J Neurosurg Pediatr 2017 May;19(5):567-570. Epub 2017 Feb 17 doi: 10.3171/2016.12.PEDS16600. PMID: 28291420
Tuberous Sclerosis Complex Associated with Vascular Anomalies or Overgrowth.
Jenkins D, McCuaig C, Drolet BA, Siegel D, Adams S, Lawson JA, Wargon O
Pediatr Dermatol 2016 Sep;33(5):536-42. Epub 2016 Jul 28 doi: 10.1111/pde.12946. PMID: 27470532
Novel STAMBP mutation and additional findings in an Arabic family.
Faqeih EA, Bastaki L, Rosti RO, Spencer EG, Zada AP, Saleh MA, Um K, Gleeson JG
Am J Med Genet A 2015 Apr;167A(4):805-9. Epub 2015 Feb 18 doi: 10.1002/ajmg.a.36782. PMID: 25692795
Anomalous left pulmonary artery without sling formation.
Semiz-Oysu A, Basaran I, Barutca H, Bukte Y
Pediatr Cardiol 2013;34(8):1928-31. Epub 2012 Aug 11 doi: 10.1007/s00246-012-0463-9. PMID: 22878809

Clinical prediction guides

Venous Anomalies in Overgrowth Syndromes.
Santiago J, Chaudry G
Tech Vasc Interv Radiol 2024 Jun;27(2):100962. Epub 2024 Jun 14 doi: 10.1016/j.tvir.2024.100962. PMID: 39168551
Glanular Venous Malformation in Pediatric Age: An Uncommon Vascular Disorder.
El Hachem M, Bada M, Diociaiuti A, Diomedi-Camassei F, Paolantonio G, Rotunno R, Nappo SG, Caione P
Urology 2019 Sep;131:223-227. Epub 2019 Jun 1 doi: 10.1016/j.urology.2019.05.025. PMID: 31163184
Novel STAMBP mutation and additional findings in an Arabic family.
Faqeih EA, Bastaki L, Rosti RO, Spencer EG, Zada AP, Saleh MA, Um K, Gleeson JG
Am J Med Genet A 2015 Apr;167A(4):805-9. Epub 2015 Feb 18 doi: 10.1002/ajmg.a.36782. PMID: 25692795
Cerebral developmental venous anomalies.
San Millán Ruíz D, Gailloud P
Childs Nerv Syst 2010 Oct;26(10):1395-406. Epub 2010 Aug 12 doi: 10.1007/s00381-010-1253-4. PMID: 20703485
Neuropathology of holoprosencephaly.
Marcorelles P, Laquerriere A
Am J Med Genet C Semin Med Genet 2010 Feb 15;154C(1):109-19. doi: 10.1002/ajmg.c.30249. PMID: 20104606

Recent systematic reviews

Antithrombotic Therapy in Cerebral Cavernous Malformations: A Systematic Review, Meta-Analysis, and Network Meta-Analysis.
Musmar B, Salim H, Abdelgadir J, Spellicy S, Adeeb N, Zomorodi A, Friedman A, Awad I, Jabbour PM, Hasan DM
J Am Heart Assoc 2024 Mar 19;13(6):e032910. Epub 2024 Mar 12 doi: 10.1161/JAHA.123.032910. PMID: 38471833Free PMC Article
Systematic review of electrophysiology procedures in patients with obstruction of the inferior vena cava.
Al-Sinan A, Chan KH, Young GD, Martin A, Sepahpour A, Sy RW
J Cardiovasc Electrophysiol 2022 Jun;33(6):1300-1311. Epub 2022 Apr 30 doi: 10.1111/jce.15505. PMID: 35441755Free PMC Article
Efficacy and safety of sirolimus in the treatment of vascular anomalies: A systematic review.
Freixo C, Ferreira V, Martins J, Almeida R, Caldeira D, Rosa M, Costa J, Ferreira J
J Vasc Surg 2020 Jan;71(1):318-327. Epub 2019 Oct 30 doi: 10.1016/j.jvs.2019.06.217. PMID: 31676179
Role of magnetic resonance imaging in fetuses with mild or moderate ventriculomegaly in the era of fetal neurosonography: systematic review and meta-analysis.
Di Mascio D, Sileo FG, Khalil A, Rizzo G, Persico N, Brunelli R, Giancotti A, Panici PB, Acharya G, D'Antonio F
Ultrasound Obstet Gynecol 2019 Aug;54(2):164-171. Epub 2019 Jul 11 doi: 10.1002/uog.20197. PMID: 30549340

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...