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

BMC Pulm Med. 2016 Dec 7;16(1):175. doi: 10.1186/s12890-016-0337-7.

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.

Keywords: Case report; Neurofibromatosis; Pulmonary hypertension; Septostomy.

Publication types

  • Case Reports

MeSH terms

  • Antihypertensive Agents / administration & dosage*
  • Cardiac Surgical Procedures / methods*
  • Echocardiography
  • Epoprostenol / administration & dosage
  • Epoprostenol / analogs & derivatives*
  • Female
  • Heart Atria / surgery
  • Hemodynamics
  • Humans
  • Hypertension, Pulmonary / physiopathology
  • Hypertension, Pulmonary / therapy*
  • Injections, Subcutaneous
  • Middle Aged
  • Neurofibromatosis 1 / complications*
  • Prognosis
  • Ventricular Remodeling

Substances

  • Antihypertensive Agents
  • Epoprostenol
  • treprostinil