Type 1 neurofibromatosis complicated by pulmonary arterial hypertension: A case report
TURK KARDIYOLOJI DERNEGI ARSIVI-ARCHIVES OF THE TURKISH SOCIETY OF CARDIOLOGY, vol.45, no.5, pp.458-461, 2017 (ESCI)
- Publication Type: Article / Article
- Volume: 45 Issue: 5
- Publication Date: 2017
- Doi Number: 10.5543/tkda.2016.36897
- Journal Name: TURK KARDIYOLOJI DERNEGI ARSIVI-ARCHIVES OF THE TURKISH SOCIETY OF CARDIOLOGY
- Journal Indexes: Emerging Sources Citation Index (ESCI), Scopus, TR DİZİN (ULAKBİM)
- Page Numbers: pp.458-461
- Keywords: Neurofibromatosis, pulmonary arterial hypertension, vasoreactivity test
- Akdeniz University Affiliated: Yes
Abstract
Neurofibromatosis type I (NF1) is a rare genetic disease caused by mutations in the NF1 gene, which encodes the tumor suppressor neurofibromin. Precapillary pulmonary hypertension is a severe complication of NF1, initially described in patients with advanced parenchymal lung disease, which may complicate the course of NF1. Presently described is a case of neurofibromatosis complicated by pulmonary hypertension.