Atrial septostomy and disease targeting therapy in pulmonary hypertension secondary to neurofibromatosis

作者：Giannakoulas George^*; Savvoulidis Panagiotis; Grosomanidis Vasilios; Mouratoglou Sophia Anastasia; Karvounis Haralambos; Hadjimiltiades Stavros

来源：BMC Pulmonary Medicine, 2016, 16(1): 175.

DOI：10.1186/s12890-016-0337-7

• Neurofibromatosis
• Pulmonary hypertension
• Septostomy
• Case report

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.

• 出版日期2016-12-7