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Vascular malformations: localized defects in vascular morphogenesis
Author(s) -
Brouillard P,
Vikkula M
Publication year - 2003
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1034/j.1399-0004.2003.00092.x
Subject(s) - biology , morphogenesis , mendelian inheritance , vascular smooth muscle , omim : online mendelian inheritance in man , gene , pathophysiology , vascular malformation , pathology , genetics , anatomy , phenotype , medicine , endocrinology , smooth muscle , radiology
Vascular anomalies are localized defects of the vasculature, and usually affect a limited number of vessels in a restricted area of the body. They are subdivided into vascular malformations and vascular tumours. Most are sporadic, but Mendelian inheritance is observed in some families. By genetic analysis, several causative genes have been identified during the last 10 years. This has shed light into the pathophysiological pathways involved. Interestingly, in most cases, the primary defect seems to affect the characteristics of endothelial cells. Only mutations in the glomulin gene, responsible for hereditary glomuvenous malformations, are thought to directly affect vascular smooth‐muscle cells.