Vascular malformations: localized defects in vascular morphogenesis

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 an...

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Bibliographic Details
Published in:Clinical genetics 2003-05, Vol.63 (5), p.340-351
Main Authors: Brouillard, P, Vikkula, M
Format: Article
Language:English
Subjects:
Adaptor Proteins, Signal Transducing
Biological and medical sciences
Blood Vessels - pathology
Blood Vessels - physiology
Capillaries - abnormalities
Cardiology. Vascular system
Congenital heart diseases. Malformations of the aorta, pulmonary vessels and vena cava
Heart
Hematologic Diseases - pathology
Humans
Lymphatic Diseases - diagnosis
Lymphatic Diseases - genetics
Medical sciences
Models, Biological
Muscle, Smooth, Vascular - cytology
Mutation
Neovascularization, Pathologic
Signal Transduction
Tacrolimus Binding Proteins - genetics
Vascular Diseases - diagnosis
Vascular Diseases - genetics
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Summary: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.
ISSN:0009-9163
1399-0004
DOI:10.1034/j.1399-0004.2003.00092.x