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

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

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 car...

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Bibliographic Details
Main Authors: Linghua Fan, Jie Jiang, Yan Zhang, Xiaoning Han, Wenhui Ding, Xiaodi Xue, Yimeng Jiang
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-01-01
Series:Frontiers in Cardiovascular Medicine
Subjects:
Noonan syndrome with multiple lentigines
heart failure
cardiomegaly
atrial fibrillation
LEOPARD syndrome
Online Access:https://www.frontiersin.org/articles/10.3389/fcvm.2025.1490436/full
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