Thorax 63:85-86 doi:10.1136/thx.2007.076109
  • Case Report

Early-life pulmonary arterial hypertension with subsequent development of diffuse pulmonary arteriovenous malformations in hereditary haemorrhagic telangiectasia type 1

  1. C J Mache1,
  2. A Gamillscheg1,
  3. H H Popper2,
  4. S G Haworth3
  1. 1
    Department of Pediatrics, Medical University Graz, Graz, Austria
  2. 2
    Institute of Pathology, Medical University Graz, Graz, Austria
  3. 3
    Institute of Child Health, London, UK
  1. Dr C J Mache, Department of Pediatrics, Medical University Graz, Auenbruggerplatz 30, A-8036 Graz, Austria; christoph.mache{at}
  • Received 4 December 2006
  • Accepted 4 April 2007


The case history is presented of a male infant who was thought to have idiopathic pulmonary arterial hypertension (PAH) at 3 months of age. Subsequently the PAH decreased unexpectedly and diffuse pulmonary arteriovenous malformations (PAVMs) were seen at 6.9 years of age for the first time. Hereditary haemorrhagic telangiectasia type 1 (HHT1) related to an endoglin mutation was diagnosed. At 10.3 years of age a lung biopsy showed diffuse PAVMs as well as pulmonary arteriopathy with medial hypertrophy. This is the first case of HHT1 presenting with PAH at such a young age. The subsequent decrease in pulmonary arterial pressure (PAP) was probably caused by the development of PAVMs. In the presence of PAVMs, measurement of the PAP may underestimate the extent of PAH-related vasculopathy.


  • Competing interests: None.