Title: Pulmonary arterio-venous malformations in a patient with a novel mutation in exon 10 of the ACVRL1 gene
Authors: Vandenbriele, Christophe ×
Peerlinck, Kathelijne
de Ravel de l'Argentière, Thomy
Verhamme, Peter
Vanassche, Thomas #
Issue Date: 2014
Publisher: Acta clinica belgica
Series Title: Acta Clinica Belgica vol:69 issue:2 pages:139-141
Article number: 10.1179/0001551213Z.00000000012
Abstract: Mutations of the ACVRL1 gene are a cause of hereditary haemorrhagic telangiectasia (HHT) type 2. In this case report, we present a patient with isolated pulmonary arterio-venous malformations (PAVMs) without other diagnostic criteria for HHT and a novel mutation in exon 10 of the ACVRL1 gene. Other mutations in exon 10 of ACVRL1 have been linked to the development of pulmonary artery hypertension, but PAVMs are a rare manifestation of HHT associated with ACVRL1 mutations. A disrupted endothelial TGF-beta/BMP signaling cascade underlies the pathogenesis of HHT, but the exact mechanism of the disease remains unelucidated. In particular, the factors that influence the variable clinical presentation are not fully understood.
ISSN: 1784-3286
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Molecular and Vascular Biology
× corresponding author
# (joint) last author

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