Type 1 neurofibromatosis complicated by pulmonary arterial hypertension: A case report
TURK KARDIYOLOJI DERNEGI ARSIVI-ARCHIVES OF THE TURKISH SOCIETY OF CARDIOLOGY, cilt.45, sa.5, ss.458-461, 2017 (ESCI)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 45 Sayı: 5
- Basım Tarihi: 2017
- Doi Numarası: 10.5543/tkda.2016.36897
- Dergi Adı: TURK KARDIYOLOJI DERNEGI ARSIVI-ARCHIVES OF THE TURKISH SOCIETY OF CARDIOLOGY
- Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, TR DİZİN (ULAKBİM)
- Sayfa Sayıları: ss.458-461
- Anahtar Kelimeler: Neurofibromatosis, pulmonary arterial hypertension, vasoreactivity test
- Akdeniz Üniversitesi Adresli: Evet
Özet
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.