Type 1 neurofibromatosis complicated by pulmonary arterial hypertension: A case report

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Atıf İçin Kopyala

KÜÇÜK M., Oncel C. R., Ucar M., Yildirim A. B.

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.