Atrial septostomy and disease targeting therapy in pulmonary hypertension secondary to neurofibromatosis. Issue 1 (December 2016)

• Record Type: Journal Article
• Authors: Giannakoulas, George; Savvoulidis, Panagiotis; Grosomanidis, Vasilios; Mouratoglou, Sophia-Anastasia; Karvounis, Haralambos; Hadjimiltiades, Stavros
• Is Part Of: BMC pulmonary medicine. Volume 16:Issue 1(2016)
• Page Start: 1
• Page End: 4
• Publication Date: 2016-12
• Subjects: Neurofibromatosis -- Pulmonary hypertension -- Septostomy -- Case report; Lungs -- Diseases -- Periodicals; 616.24005
• DOI: 10.1186/s12890-016-0337-7
• Languages: English
• ISSNs: 1471-2466

Abstract

Abstract 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.