Pulmonary arterio-venous malformations in a patient with a novel mutation in exon 10 of the ACVRL1 gene

  title={Pulmonary arterio-venous malformations in a patient with a novel mutation in exon 10 of the ACVRL1 gene},
  author={Christophe Vandenbriele and Kathelijne Peerlinck and Thomy de Ravel and Peter Verhamme and Thomas Vanassche},
  journal={Acta Clinica Belgica},
  pages={139 - 141}
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… 

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