Pulmonary arterio-venous malformations in a patient with a novel mutation in exon 10 of the ACVRL1 gene. Issue 2 (April 2014)

• Record Type: Journal Article
• Authors: Vandenbriele, C.; Peerlinck, K.; de Ravel, T.; Verhamme, P.; Vanassche, T.
• Is Part Of: Acta clinica belgica. Volume 69:Issue 2(2014)
• Page Start: 139
• Page End: 141
• Publication Date: 2014-04
• Subjects: Clinical medicine -- Periodicals; Diagnosis, Laboratory -- Periodicals; 616.005
• DOI: 10.1179/0001551213Z.00000000012
• Languages: English
• ISSNs: 1784-3286

Abstract

<abstract> <title> <x content-type="archive" xml:space="preserve">Abstract</x> </title> <p>Mutations of the <italic>ACVRL1</italic> 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 <italic>ACVRL1 gene</italic>. Other mutations in exon 10 of <italic>ACVRL1</italic> have been linked to the development of pulmonary artery hypertension, but PAVMs are a rare manifestation of HHT associated with <italic>ACVRL1</italic> 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.</p> </abstract>