Pulmonary arterio-venous malformations in a patient with a novel mutation in exon 10 of the ACVRL1 gene.
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.
C
C
Vandenbriele
K
K
Peerlinck
T
T
de Ravel
P
P
Verhamme
T
T
Vanassche
D030301:Activin Receptors, Type II / Q000235:genetics*; D001164:Arteriovenous Fistula / Q000235:genetics* / Q000473:pathology*; D005091:Exons; D005260:Female; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D011651:Pulmonary Artery / Q000002:abnormalities* / Q000473:pathology; D011667:Pulmonary Veins / Q000002:abnormalities* / Q000473:pathology; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000235:genetics* / Q000473:pathology*
C425364:ACVRL1 protein, human; D030301:Activin Receptors, Type II
ACVRL1 gene,; Hereditary haemorrhagic telangiectasia,; Pulmonary arterio-venous malformations; Rendu-Osler-Weber syndrome,; Teleangiectasias,