Pulmonary Hypertension in Rare Disease Overlap: Neurofibromatosis Type 1 Meets Sarcoidosis
Abstract
We present a case of pulmonary hypertension (PH) and right heart failure in a 66-year-old female patient with longstanding neurofibromatosis Type I (NF1) since 1973 and sarcoidosis since 2009. She had a history of breast cancer 30 years ago, which was treated with left mastectomy followed by chemotherapy, and she has remained in remission thereafter. We detail her clinical presentation, diagnostic evaluation, and therapeutic course, highlighting the diagnostic challenges posed by multifactorial PH and the implications for targeted management.
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