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

IF 2.8 3区 医学 Q2 CARDIAC & CARDIOVASCULAR SYSTEMS Frontiers in Cardiovascular Medicine Pub Date : 2025-01-17 eCollection Date: 2025-01-01 DOI:10.3389/fcvm.2025.1490436
Linghua Fan, Jie Jiang, Yan Zhang, Xiaoning Han, Wenhui Ding, Xiaodi Xue, Yimeng Jiang
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引用次数: 0

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.

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来源期刊
Frontiers in Cardiovascular Medicine
Frontiers in Cardiovascular Medicine Medicine-Cardiology and Cardiovascular Medicine
CiteScore
3.80
自引率
11.10%
发文量
3529
审稿时长
14 weeks
期刊介绍: Frontiers? Which frontiers? Where exactly are the frontiers of cardiovascular medicine? And who should be defining these frontiers? At Frontiers in Cardiovascular Medicine we believe it is worth being curious to foresee and explore beyond the current frontiers. In other words, we would like, through the articles published by our community journal Frontiers in Cardiovascular Medicine, to anticipate the future of cardiovascular medicine, and thus better prevent cardiovascular disorders and improve therapeutic options and outcomes of our patients.
期刊最新文献
Case Report: A rare case of Noonan syndrome with multiple lentigines manifesting as cardiac enlargement. Editorial: Insights in cardiac rhythmology 2023. Nonlinear association between red cell distribution width/albumin ratio and peripheral arterial disease in the NHANES: a cross-section study with propensity score matching analysis. Progress on long non-coding RNAs in calcific aortic valve disease. Machine learning analysis of emerging risk factors for early-onset hypertension in the Tlalpan 2020 cohort.
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