Type 1 neurofibromatosis and pulmonary hypertension: a report of two cases and a review.
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.
Department of Cardiology, Cardio-thoracic Center, All India Institute of Medical Sciences, New Delhi, India.
Amit
A
Malviya
Department of Cardiology, Cardio-thoracic Center, All India Institute of Medical Sciences, New Delhi, India.
Sundeep
S
Mishra
Department of Cardiology, Cardio-thoracic Center, All India Institute of Medical Sciences, New Delhi, India.
Shyam S
SS
Kothari
Von Recklinghausen's disease; echocardiography; genetics; neurofibromin; paediatric cardiology; paediatric interventional cardiology; pulmonary arterial hypertension; pulmonary vascular disease; pulmonary vasculopathy