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.
Authors
- Junshuai Feng
- Y Z Zhang
- Xiaoli Mou
- Yong Liu (ORCID: https://orcid.org/0000-0003-0019-3562)
- Xinhe Cheng
Institutions
- Gansu Provincial Hospital (CN)
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