Pulmonary Hypertension and Neurofibromatosis Type 1: A Case Report with the Revision of Literature

Abstract

Neurofibromatosis Type 1 (NF1) is an autosomal dominant genetic disorder caused by mutations of the NF1 gene that can lead to the development of benign neurofibroma-like tumours and Malignant Peripheral Nerve Sheath Tumours (MPNST). Pulmonary Arterial Hypertension (PAH) is a rare but severe complication associated with NF1 (PAH-NF). PH-NF1 is classified as group 5 PH, defined as “PH with unclear and/or multifactorial mechanisms”, because the mechanisms of PH remain poorly understood. A better understanding of the genetic and molecular mechanisms underlying the disease may require new ways to develop specific therapies. We present the clinical outcomes of a 51-year old female previously diagnosed with NF1, who presented with progressively worsening dyspnea.