Published in:
Open Access 01-12-2016 | Case report
Atrial septostomy and disease targeting therapy in pulmonary hypertension secondary to neurofibromatosis
Published in: BMC Pulmonary Medicine | Issue 1/2016
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Background
Neurofibromatosis type 1 (NF1) is a rare multisystem genetic disorder. During the course of the disease it can be rarely complicated with pulmonary hypertension (PH) which confers a dismal prognosis.
Case presentation
We describe the case of a 57-year-old female patient with NF1 complicated by severe precapillary PH despite dual disease-specific oral combination therapy. The patient was treated with initial atrial septostomy followed by administration of high-dose subcutaneous treprostinil with a favorable medium-term clinical and hemodynamic response.
Conclusions
PH secondary to NF1 may be successfully treated with the combination of atrial septostomy and PH targeted therapy in selected patients.