Pulmonary arterial hypertension: A rare yet fatal complication of Neurofibromatosis Type 1

Melanie Rojas; Ateeq Mubarik; Elizabeth Ann Henderson; Fatima Agha; Lakshpaul Chauhan; Arshad Muhammad Iqbal; Ali Vaziri; Salman Muddassir

doi:10.1016/j.rmcr.2019.100832

Pulmonary arterial hypertension: A rare yet fatal complication of Neurofibromatosis Type 1

Respir Med Case Rep. 2019 Apr 1:27:100832. doi: 10.1016/j.rmcr.2019.100832. eCollection 2019.

Authors

Melanie Rojas¹, Ateeq Mubarik¹, Elizabeth Ann Henderson¹, Fatima Agha¹, Lakshpaul Chauhan¹, Arshad Muhammad Iqbal¹, Ali Vaziri¹, Salman Muddassir¹

Affiliation

¹ Oak Hill Hospital Brooksville, FL, 34613, USA.

Abstract

Neurofibromatosis Type 1 (NF1) is an autosomal dominant genetic disorder with an incidence of approximately 1 in 4,000 live births ^[1]. Pulmonary arterial hypertension (PAH) is a rare but extremely life-threatening complication associated with NF1. Timely recognition of this unusual and severe association between NF1 and PAH is imperative in prolonging the survival in this specific patient population. We present the clinical outcomes of a 47-year old female previously diagnosed with NF1, who presented with progressively worsening dyspnea.

Keywords: NF1; PAH; PH.

Publication types

Case Reports