Genetic causes of vascular malformations
- PMID: 17670762
- DOI: 10.1093/hmg/ddm211
Genetic causes of vascular malformations
Abstract
Vascular malformations are localized defects of vascular development. They usually affect a limited number of vessels in a restricted area of the body. Although most malformations are sporadic, inheritance is observed, enabling genetic analysis. Usually, sporadic forms present with a single lesion whereas multiple lesions are observed in familial cases. The last decade has seen unraveling of several causative genes and beginning of elucidation of the pathophysiological pathways involved in the inherited forms. In parallel, definition of the clinical phenotypes has improved and disorders such as Parkes-Weber syndrome (PKWS), first thought to be sporadic, is now known to be part of a more common inheritable phenotype. In addition, the concept of double-hit mechanism that we proposed earlier to explain the incomplete penetrance, variable expressivity and multifocality of lesions in inherited venous anomalies is now becoming confirmed, as some somatic mutations have been identified in venous, glomuvenous and cerebral cavernous malformations. It is thus tempting to suggest that familial forms of vascular malformations follow paradominant inheritance and that sporadic forms, the etiopathogenic causes of which are still unelucidated, are caused by somatic mutations in the same genes.
Similar articles
-
Genetics and syndromes associated with vascular malformations.Pediatr Clin North Am. 2010 Oct;57(5):1111-20. doi: 10.1016/j.pcl.2010.07.001. Pediatr Clin North Am. 2010. PMID: 20888461
-
[Pathogenesis and genetics of vascular anomalies].Ann Chir Plast Esthet. 2006 Aug-Oct;51(4-5):282-6. doi: 10.1016/j.anplas.2006.07.002. Epub 2006 Sep 25. Ann Chir Plast Esthet. 2006. PMID: 16997448 French.
-
The genetics of vascular anomalies.Curr Opin Otolaryngol Head Neck Surg. 2012 Dec;20(6):527-32. doi: 10.1097/MOO.0b013e3283587415. Curr Opin Otolaryngol Head Neck Surg. 2012. PMID: 22913934 Review.
-
Hereditary vascular anomalies: new insights into their pathogenesis.Arterioscler Thromb Vasc Biol. 2004 Sep;24(9):1578-90. doi: 10.1161/01.ATV.0000137390.56554.df. Epub 2004 Jul 1. Arterioscler Thromb Vasc Biol. 2004. PMID: 15231518 Review.
-
Glomuvenous malformation (glomangioma) and venous malformation: distinct clinicopathologic and genetic entities.Arch Dermatol. 2004 Aug;140(8):971-6. doi: 10.1001/archderm.140.8.971. Arch Dermatol. 2004. PMID: 15313813
Cited by
-
Venous malformation vessels are improperly specified and hyperproliferative.PLoS One. 2021 May 27;16(5):e0252342. doi: 10.1371/journal.pone.0252342. eCollection 2021. PLoS One. 2021. PMID: 34043714 Free PMC article.
-
Light-activated gold nanorods for effective therapy of venous malformation.Mater Today Bio. 2022 Aug 18;16:100401. doi: 10.1016/j.mtbio.2022.100401. eCollection 2022 Dec. Mater Today Bio. 2022. PMID: 36052154 Free PMC article.
-
Rapamycin improves TIE2-mutated venous malformation in murine model and human subjects.J Clin Invest. 2015 Sep;125(9):3491-504. doi: 10.1172/JCI76004. Epub 2015 Aug 10. J Clin Invest. 2015. PMID: 26258417 Free PMC article. Clinical Trial.
-
Primary LYmphedema Multidisciplinary Approach in Patients Affected by Primary Lower Extremity Lymphedema.J Clin Med. 2024 Aug 30;13(17):5161. doi: 10.3390/jcm13175161. J Clin Med. 2024. PMID: 39274373 Free PMC article.
-
The shunt problem: control of functional shunting in normal and tumour vasculature.Nat Rev Cancer. 2010 Aug;10(8):587-93. doi: 10.1038/nrc2895. Epub 2010 Jul 15. Nat Rev Cancer. 2010. PMID: 20631803 Free PMC article. Review.
Publication types
MeSH terms
Grants and funding
LinkOut - more resources
Full Text Sources
Other Literature Sources
Medical
