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Case report
Neurofibromatosis-associated pulmonary hypertension: an ominous duo
  1. Sónia Gomes Coelho1 and
  2. Maria José Loureiro2
  1. 1Department of Internal Medicine, Centro Hospitalar Universitário Cova da Beira, Covilhã, Portugal
  2. 2Department of Cardiology, Hospital Garcia de Orta EPE, Almada, Portugal
  1. Correspondence to Dr Sónia Gomes Coelho; s.coelho88{at}gmail.com

Abstract

The authors report a rare clinical case of a patient with neurofibromatosis type 1 (NF1) complicated by pulmonary hypertension (PH), which presents with rapid progression. An exhaustive investigation was performed to identify the main aetiology of the PH. It was concluded that the PH could be associated with NF1, and so belonged in group 5 of the clinical classification of PH. In general, such patients have a poor long-term prognosis due to the inexistence of proven, effective treatment. Further studies are needed to better understand the mechanisms of NF1-associated PH.

  • pulmonary hypertension
  • genetics
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Footnotes

  • Contributors SGC: drafting the article; conception and design of the article; acquisition of data; analysis and interpretation of data; critical revision of the article for intellectual content; approved the final version of the article; agreed to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved. MJL: conception and design of the article; acquisition of data; analysis and interpretation of data; critical revision of the article for intellectual content; approved the final version of the article; agreed to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved. All authors included on a paper fulfil the criteria of authorship. There is no one else who fulfils the criteria that has been excluded as an author.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent for publication Not required.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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