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Pulmonary Hypertension in Rare Disease Overlap: Neurofibromatosis Type 1 Meets Sarcoidosis

Year: 2025
Type: article
Study design: Case Report
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.
Source: Cureus
Authors: Akshay Sharma, Yasmin Bilal, Imran Yousaf, Pardeep Masuta, Deepak Gupta
Language: English
Field: Medicine
Open Access status: diamond
OpenAlex ID: W4417144307
FWCI:
Cites: 16
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