1.
Rev Port Cardiol
; 41(6): 511.e1-511.e5, 2022 Jun.
Artigo
em Inglês, Português
| MEDLINE
| ID: mdl-36062695
RESUMO
Neurofibromatosis type 1 (NF1) is a common autosomal dominant genetic disorder that affects multiple organ systems and has a wide range of clinical manifestations. Pulmonary hypertension (PH) associated with NF1 (PH-NF1) is rarely seen, but confers a dismal prognosis. In the literature this association has been described in only 31 cases. The authors report the case of a 77-year-old female patient with NF1 complicated by severe precapillary PH despite triple disease-specific oral combination therapy. Because no data are available on the efficacy of specific PH therapy in PH-NF1, these patients should be assessed in expert PH centers and referred for lung transplantation at an early stage.