Article Text

Type 1 neurofibromatosis and pulmonary hypertension: a report of two cases and a review
  1. Amit Malviya,
  2. Sundeep Mishra,
  3. Shyam S Kothari
  1. Department of Cardiology, Cardio-thoracic Center, All India Institute of Medical Sciences, New Delhi, India
  1. Correspondence to Dr Shyam S Kothari, Professor (cardiology), All India Institute of Medical Sciences, Ansari Nagar, New Delhi-110029, India; kothariss{at}


Pulmonary hypertension in type 1 neurofibromatosis is not well known and was previously attributed to diffuse fibrosing alveolitis and parenchymal tumours. More recently, cases of severe pulmonary hypertension due to pulmonary vasculopathy have been described. Involvement of vascular beds, both large and medium calibre vessels, but not pulmonary vasculature, in type 1 neurofibromatosis is well known. The authors describe two such cases and briefly review the literature. Pulmonary arterial hypertension in neurofibromatosis warrants further studies.

  • Von Recklinghausen's disease
  • pulmonary vasculopathy
  • neurofibromin
  • pulmonary arterial hypertension
  • pulmonary vascular disease
  • genetics
  • paediatric cardiology
  • paediatric interventional cardiology
  • echocardiography

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  • Competing interests None.

  • Provenance and peer review Not commissioned; internally peer reviewed.

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