Article
SMAD4 gene mutation increases the risk of aortic dilation in patients with hereditary haemorrhagic telangiectasia.
International journal of cardiology - 15 Oct 2017
Vorselaars V M M, Diederik A, Prabhudesai V, Velthuis S, Vos J-A, Snijder R J, Westermann C J J, Mulder B J, Ploos van Amstel J K, Mager J J, Faughnan M E, Post M C
Abstract excerpt
BACKGROUND: Mutations in the genes ENG, ACVRL1 and SMAD4 that are part of the transforming growth factor-beta signalling pathway cause hereditary haemorrhagic telangiectasia (HHT). Mutations in non-HHT genes within this same pathway have been found to associate with aortic dilation. Therefore, we investigated the presence of aortic dilation in a large cohort of HHT patients as compared to non-HHT controls....
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