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Genetic Aspects of Vascular Malformations

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Hemangiomas and Vascular Malformations

Abstract

Vascular malformations are comprised of a variety of developmental defects of the vasculature. Typically sporadic in nature, they can sometimes occur as incompletely penetrant, inherited traits. The genetic bases of several of these anomalies have been identified, and are described in this review. This has had a hugely beneficial impact in terms of the precise diagnosis and appropriate, effective treatment of different disease entities; it has also revealed potential therapeutic targets for the future. The advances made thus far, however, are largely confined to the rare, familial forms, and much remains to be uncovered about the genes that mediate common sporadic versions of vascular malformations. Moreover, the pathogenic pathways and molecular mechanisms by which the aberrant genes cause these defined, often heterogeneous lesions, remain to be thoroughly dissected. Previous studies have largely focused on the analysis of blood samples, as these are more accessible. Further progress in identifying the somatic events that cause sporadic lesions or locally exacerbate the pathogenic effects of germline-heterozygous mutant alleles, will require the additional assessment of irregularities of gene expression and function at the level of lesion-derived tissue.

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Author information

Authors and Affiliations

  1. Laboratory of Human Molecular Genetics de Duve Institute, Université Catholique de Louvain Brussels, Belgium

    Nisha Limaye & Miikka Vikkula

Authors
  1. Nisha Limaye
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  2. Miikka Vikkula
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Editor information

Editors and Affiliations

  1. Department of Vascular Surgery, Center for Vascular Malformations “Stefan Belov”, “G. Salvini” Hospital, Garbagnate Milanese (Milan), Italy

    Raul Mattassi  & Massimo Vaghi  & 

  2. Center for Circulatory Disturbances and Vascular Defects, Department for Angiology and Vascular Surgery, Facharztklinik Hamburg, Hamburg, Germany

    Dirk A. Loose

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© 2009 Springer-Verlag Italia

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Limaye, N., Vikkula, M. (2009). Genetic Aspects of Vascular Malformations. In: Mattassi, R., Loose, D.A., Vaghi, M. (eds) Hemangiomas and Vascular Malformations. Springer, Milano. https://doi.org/10.1007/978-88-470-0569-3_13

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  • DOI: https://doi.org/10.1007/978-88-470-0569-3_13

  • Publisher Name: Springer, Milano

  • Print ISBN: 978-88-470-0568-6

  • Online ISBN: 978-88-470-0569-3

  • eBook Packages: MedicineMedicine (R0)

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