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Peer-reviewedCC BYJournal of Rare Diseases

Aortic valve replacement in a patient with neurofibromatosis type 1: surgical considerations and perioperative management

  • Tanushree Kar1
  • Ashwani Bansal2
  • Ankit Singhal2
  1. 1Department of CVTS, Dr. D.Y.Patil Medical college, Hospital and Research centre
  2. 2Department of Cardiothoracic Surgery, Indus International Hospital
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Abstract

Introduction Cardiovascular involvement has been described in patients with neurofibromatosis type 1 (NF1), including congenital cardiac abnormalities, hypertension, and vascular lesions; however, clinically significant valvular disease requiring cardiac surgery is rarely reported. We report a case of severe aortic regurgitation (AR) in a patient with NF1 and highlight the perioperative evaluation, surgical decision-making, and management considerations relevant to cardiac surgery in this multisystem disorder. A 67-year-old female with NF1 presented with progressive dyspnea and was diagnosed with severe aortic regurgitation. Following comprehensive cardiovascular and perioperative evaluation, she successfully underwent bioprosthetic aortic valve replacement (AVR) with an uneventful recovery. Severe aortic regurgitation in patients with NF1 should be evaluated and managed according to established guidelines for valvular heart disease. Given the possibility of multisystem involvement, a thorough perioperative evaluation of patients with NF1 undergoing cardiac surgery remains paramount. A multidisciplinary and individually tailored approach is important, given the diverse systemic manifestations. Clinical trial number Not applicable.

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Cite

BibTeXRIS
BibTeX
@article{kar2026aortic,
  title = {{Aortic valve replacement in a patient with neurofibromatosis type 1: surgical considerations and perioperative management}},
  author = {Tanushree Kar and Ashwani Bansal and Ankit Singhal},
  journal = {Journal of Rare Diseases},
  year = {2026},
  month = oct,
  doi = {10.1007/s44162-026-00251-w},
  url = {https://doi.org/10.1007/s44162-026-00251-w},
  note = {CC BY},
}
RIS
TY  - JOUR
TI  - Aortic valve replacement in a patient with neurofibromatosis type 1: surgical considerations and perioperative management
AU  - Tanushree Kar
AU  - Ashwani Bansal
AU  - Ankit Singhal
PY  - 2026
DA  - 2026/10/25
JO  - Journal of Rare Diseases
DO  - 10.1007/s44162-026-00251-w
UR  - https://doi.org/10.1007/s44162-026-00251-w
AB  - Introduction Cardiovascular involvement has been described in patients with neurofibromatosis type 1 (NF1), including congenital cardiac abnormalities, hypertension, and vascular lesions; however, clinically significant valvular disease requiring cardiac surgery is rarely reported. We report a case of severe aortic regurgitation (AR) in a patient with NF1 and highlight the perioperative evaluation, surgical decision-making, and management considerations relevant to cardiac surgery in this multisystem disorder. A 67-year-old female with NF1 presented with progressive dyspnea and was diagnosed with severe aortic regurgitation. Following comprehensive cardiovascular and perioperative evaluation, she successfully underwent bioprosthetic aortic valve replacement (AVR) with an uneventful recovery. Severe aortic regurgitation in patients with NF1 should be evaluated and managed according to established guidelines for valvular heart disease. Given the possibility of multisystem involvement, a thorough perioperative evaluation of patients with NF1 undergoing cardiac surgery remains paramount. A multidisciplinary and individually tailored approach is important, given the diverse systemic manifestations. Clinical trial number Not applicable.
SN  - 2731-085X
ER  -