BMJ Case Reports 2010; doi:10.1136/bcr.05.2010.2961
  • Unusual association of diseases/symptoms

Pulmonary arterial hypertension associated with neurofibromatosis type 1

  1. José-Ramón Salcines Caviedes4
  1. 1Department of Internal Medicine, Hospital of Laredo, Laredo, Spain
  2. 2Cardiology Section, Hospital of Laredo, Laredo, Spain
  3. 3Respiratory Medicine Section, Hospital of Laredo, Laredo, Spain
  4. 4Digestive Diseases Section, Hospital of Laredo, Laredo, Spain
  1. Correspondence to Miguel F Carrascosa, mcarrascosa{at}


The authors report a case of severe pulmonary arterial hypertension (PAH) in a 75-year-old woman who had received a diagnosis of neurofibromatosis type 1 (NF1) 23 years before. She presented with progressive dyspnoea and recurrent syncope. Even though the patient initially improved after starting supportive and specific treatment for PAH, she then deteriorated and died from respiratory failure 11 months after the diagnosis of PAH. Prompt recognition of such an unusual association between PAH and NF1 and appropriate therapeutic intervention could ameliorate quality of life and prolong survival in this patient population.


  • Competing interests None.

  • Patient consent Obtained.

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