Novel characterization of MRAS mutation-associated Noonan syndrome: Mild adult-onset hypertrophic cardiomyopathy combined with infective endocarditis: A case report

This case expands the genotypic spectrum of Noonan syndrome by supporting MRAS mutations as pathogenic drivers. It also identifies infective endocarditis as a previously unreported complication in MRAS-associated NS with outflow tract obstruction, highlighting the importance of careful cardiac surveillance in patients with RASopathies.

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Publication Details

Journal
Medicine
Published
2026-01-09
DOI
https://doi.org/10.1097/md.0000000000046340
Primary Topic
Protein Tyrosine Phosphatases
Type
article
Field-Weighted Citation Impact
0.00
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article

Novel characterization of MRAS mutation-associated Noonan syndrome: Mild adult-onset hypertrophic cardiomyopathy combined with infective endocarditis: A case report

Junshuai Feng, Y Z Zhang, Xiaoli Mou, Yong Liu et al.
Medicine
Protein Tyrosine Phosphatases
article

Novel characterization of MRAS mutation-associated Noonan syndrome: Mild adult-onset hypertrophic cardiomyopathy combined with infective endocarditis: A case report

Junshuai Feng, Y Z Zhang, Xiaoli Mou, Yong Liu, Xinhe Cheng
article en

Abstract

This case expands the genotypic spectrum of Noonan syndrome by supporting MRAS mutations as pathogenic drivers. It also identifies infective endocarditis as a previously unreported complication in MRAS-associated NS with outflow tract obstruction, highlighting the importance of careful cardiac surveillance in patients with RASopathies.

MedicineVol. 105(2)
Gansu Provincial Hospital (CN)
Good health and well-being
Openalex Percentile: Top 92%
Protein Tyrosine Phosphatases
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