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Cardiovascular Research 2003 58(1):20-31; doi:10.1016/S0008-6363(02)00852-0
© 2003 by European Society of Cardiology
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Copyright © 2003, European Society of Cardiology

Hereditary hemorrhagic telangiectasia: an update on transforming growth factor β signaling in vasculogenesis and angiogenesis

Sander van den Drieschea, Christine L. Mummerya,b,* and Cornelius J.J. Westermannc

aHubrecht Laboratory, Netherlands Institute for Developmental Biology, Uppsalalaan 8, 3584 CT Utrecht, The Netherlands
bThe Interuniversity Cardiology Institute of the Netherlands, Utrecht, The Netherlands
cSt. Antonius Hospital, Department of Pulmonary Disease, Nieuwegein, The Netherlands

* Corresponding author. Tel.: +31-30-212-1800; fax: +31-30-251-6464. christin{at}niob.knaw.nl

Hereditary hemorrhagic telangiectasia (HHT) is a vascular disorder in humans which has been mapped to two genes, endoglin and activin receptor-like kinase-1 (ALK-1) both of which mediate signaling by transforming growth factor β ligands in vascular endothelial cells. Animal models have shown that these receptors are not only important for maintaining vascular integrity but also for angiogenesis both during embryonic development and during tumor growth. Here, we review the current status of reported mutations in the context of the clinical manifestations and the effects on the vessel wall both in patients and in animal models of the disease.

KEYWORDS Angiogenesis; Growth factors; Receptors; Sequence (DNA/RNA/prot)


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