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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: 37264205
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

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
High-Flow Vascular Malformations in Children.
Morshed RA, Winkler EA, Kim H, Braunstein S, Cooke DL, Hetts SW, Abla AA, Fullerton HJ, Gupta N
Semin Neurol 2020 Jun;40(3):303-314. Epub 2020 Apr 6 doi: 10.1055/s-0040-1708869. PMID: 32252098
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
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

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: 37264205
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
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
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
Ventricular septal defect.
Penny DJ, Vick GW 3rd
Lancet 2011 Mar 26;377(9771):1103-12. Epub 2011 Feb 23 doi: 10.1016/S0140-6736(10)61339-6. PMID: 21349577

Therapy

Treatment of two infants with PIK3CA-related overgrowth spectrum by alpelisib.
Morin G, Degrugillier-Chopinet C, Vincent M, Fraissenon A, Aubert H, Chapelle C, Hoguin C, Dubos F, Catteau B, Petit F, Mezel A, Domanski O, Herbreteau G, Alesandrini M, Boddaert N, Boutry N, Broissand C, Han TK, Branle F, Sarnacki S, Blanc T, Guibaud L, Canaud G
J Exp Med 2022 Mar 7;219(3) Epub 2022 Jan 26 doi: 10.1084/jem.20212148. PMID: 35080595Free PMC Article
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
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
Fetal cardiac interventions: myths and facts.
Van Aerschot I, Rosenblatt J, Boudjemline Y
Arch Cardiovasc Dis 2012 Jun-Jul;105(6-7):366-72. Epub 2012 Jun 19 doi: 10.1016/j.acvd.2012.01.011. PMID: 22800721

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
Congenital central pulmonary artery anomalies: Part 2.
Newman B, Alkhori N
Pediatr Radiol 2020 Jul;50(8):1030-1040. Epub 2020 Jun 4 doi: 10.1007/s00247-020-04703-3. PMID: 32500159
Congenital central pulmonary artery anomalies: Part 1.
Newman B, Alkhori N
Pediatr Radiol 2020 Jul;50(8):1022-1029. Epub 2020 May 30 doi: 10.1007/s00247-020-04690-5. PMID: 32474775
High-Flow Vascular Malformations in Children.
Morshed RA, Winkler EA, Kim H, Braunstein S, Cooke DL, Hetts SW, Abla AA, Fullerton HJ, Gupta N
Semin Neurol 2020 Jun;40(3):303-314. Epub 2020 Apr 6 doi: 10.1055/s-0040-1708869. PMID: 32252098
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

Clinical prediction guides

Comprehensive Analyses of Coagulation Parameters in Patients with Vascular Anomalies.
Kapp FG, Schneider C, Holm A, Glonnegger H, Niemeyer CM, Rößler J, Zieger B
Biomolecules 2022 Dec 8;12(12) doi: 10.3390/biom12121840. PMID: 36551267Free PMC Article
Airway obstruction in children with complex conotruncal cardiac anomalies.
Wein CE, Cervantes L, Sasaki N
Cardiol Young 2022 Feb;32(2):244-251. Epub 2021 Jun 7 doi: 10.1017/S1047951121001827. PMID: 34092273
Idiopathic and hereditary haemorrhagic telangiectasia associated pulmonary arteriovenous malformations: comparison of clinical and radiographic characteristics.
Kroon S, van den Heuvel DAF, Vos JA, van Leersum M, van Strijen MJL, Post MC, Mager JJ, Snijder RJ
Clin Radiol 2021 May;76(5):394.e1-394.e8. Epub 2021 Feb 27 doi: 10.1016/j.crad.2021.01.011. PMID: 33648759
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

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