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<p>Neurofibromatosis 1-Noonan syndrome is considered a distinct clinical entity, combining characteristics of both autosomal dominant disorders: neurofibromatosis 1 and Noonan syndrome. We present the case of a 20-year-old patient clinically diagnosed with neurofibromatosis 1-Noonan syndrome, with genetic confirmation-heterozygous mutation of PTPN11 gene and a variant of uncertain significance in NF1 gene (c.2989A>G). Associated congenital heart disease was diagnosed at birth-severe pulmonary valve stenosis and infundibular pulmonary stenosis, surgically corrected at the age of one. At adult age, cardiologic assessment shows severe pulmonary regurgitation post commissurotomy, with residual large pulmonary stenosis and left ventricular apical hypertrophy, suggesting apical hypertrophic cardiomyopathy, confirmed by cardiac magnetic resonance. The patient needs periodical follow-up in order to identify the perfect timing for correction of severe pulmonary regurgitation. As there are no specific genetic therapies for neurofibromatosis 1 or Noonan syndrome, the diagnose and management of associated comorbidities is the main aspect to be taken into considered.</p>
</abstract>

Neurofibromatosis 1-Noonan syndrome is considered a distinct clinical entity, combining characteristics of both autosomal dominant disorders: neurofibromatosis 1 and Noonan syndrome. We present the case of a 20-year-old patient clinically diagnosed with neurofibromatosis 1-Noonan syndrome, with genetic confirmation-heterozygous mutation of PTPN11 gene and a variant of uncertain significance in NF1 gene (c.2989A>G). Associated congenital heart disease was diagnosed at birth-severe pulmonary valve stenosis and infundibular pulmonary stenosis, surgically corrected at the age of one. At adult age, cardiologic assessment shows severe pulmonary regurgitation post commissurotomy, with residual large pulmonary stenosis and left ventricular apical hypertrophy, suggesting apical hypertrophic cardiomyopathy, confirmed by cardiac magnetic resonance. The patient needs periodical follow-up in order to identify the perfect timing for correction of severe pulmonary regurgitation. As there are no specific genetic therapies for neurofibromatosis 1 or Noonan syndrome, the diagnose and management of associated comorbidities is the main aspect to be taken into considered.

Neurofibromatosis 1-Noonan Syndrome Associated with Pulmonary Stenosis and Hypertrophic Cardiomyopathy

„Carol Davila” University of Medicine and Pharmacy

Romanian Journal of Cardiology

This work is licensed under the Creative Commons Attribution 4.0 International License.

Neurofibromatosis 1-Noonan syndrome is considered a distinct clinical entity, combining characteristics of both autosomal dominant disorders: neurofibromatosis...

Neurofibromatosis 1-Noonan Syndrome Associated with Pulmonary Stenosis and Hypertrophic Cardiomyopathy

Article Category: Case Presentation

Pubblicato online: 05 mag 2022

Pagine: 903 - 910

DOI: https://doi.org/10.47803/rjc.2020.31.4.903

Parole chiave
neurofibromatosis 1-Noonan syndrome, pulmonary stenosis, hypertrophic cardiomyopathy

© 2021 Daniela-Noela Radu et al., published by Sciendo

This work is licensed under the Creative Commons Attribution 4.0 International License.

Neurofibromatosis 1-Noonan Syndrome Associated with Pulmonary Stenosis and Hypertrophic Cardiomyopathy

Article Category: Case Presentation

Pubblicato online: 05 mag 2022

Pagine: 903 - 910

DOI: https://doi.org/10.47803/rjc.2020.31.4.903

Parole chiaveneurofibromatosis 1-Noonan syndrome, pulmonary stenosis, hypertrophic cardiomyopathy

© 2021 Daniela-Noela Radu et al., published by Sciendo

This work is licensed under the Creative Commons Attribution 4.0 International License.

Parole chiave
neurofibromatosis 1-Noonan syndrome, pulmonary stenosis, hypertrophic cardiomyopathy