AUTHOR=Fan Linghua , Jiang Jie , Zhang Yan , Han Xiaoning , Ding Wenhui , Xue Xiaodi , Jiang Yimeng 

TITLE=Case Report: A rare case of Noonan syndrome with multiple lentigines manifesting as cardiac enlargement

JOURNAL=Frontiers in Cardiovascular Medicine

VOLUME=Volume 12 - 2025

YEAR=2025

URL=https://www.frontiersin.org/journals/cardiovascular-medicine/articles/10.3389/fcvm.2025.1490436

DOI=10.3389/fcvm.2025.1490436

ISSN=2297-055X

ABSTRACT=Noonan syndrome with multiple lentigines (NSML) is a rare autosomal dominant disorder, primarily caused by variants in the PTPN11 gene. Characterized by multiple lentigines, hypertelorism, short stature, and hearing loss, its common cardiac manifestations include pulmonary stenosis, hypertrophic cardiomyopathy (HCM), atrial septal defect, and left-sided heart lesions. We report a 58-year-old female diagnosed with NSML presenting with bilateral atrial and ventricular chamber enlargement and atrial fibrillation, which are uncommon cardiac phenotypes of NSML.