Case report
Pulmonary Hypertension in Neurofibromatosis

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Two cases of severe pulmonary arterial hypertension in patients with neurofibromatosis are reported. The published research is reviewed. In conclusion, it is suggested that the association between these conditions be recognized in the classification of pulmonary hypertension.

Section snippets

Patient 1

A 60-year-old woman was referred for evaluation of PH. For 6 months, she had had exertional dyspnea, edema, and increasing abdominal girth. In childhood, she had had asthma and NF, with multiple café au lait spots identified. Cardiac catheterization showed PH, and the patient was started on amlodipine 5 mg/day without improvement. On examination, she had numerous café au lait spots over the trunk. The findings of diagnostic evaluation, treatment, and clinical course are listed in Table 1.

Patient 2

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Comments

Vascular involvement has been reported in NF and has predominantly involved histopathologic changes in systemic arteries, including the aorta and the renal, mesenteric, and, rarely, coronary arteries. Arterial involvement occasionally takes the form of multiple aneurysms but more commonly presents as occlusive disease of the smaller arteries. Histopathologic findings include diffuse intimal thickening and, in some cases, plexiform lesions.2, 3, 4

Early reports of pulmonary involvement in NF

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