Linghua Fan, Jie Jiang, Yan Zhang, Xiaoning Han, Wenhui Ding, Xiaodi Xue, Yimeng Jiang
{"title":"Case Report: A rare case of Noonan syndrome with multiple lentigines manifesting as cardiac enlargement.","authors":"Linghua Fan, Jie Jiang, Yan Zhang, Xiaoning Han, Wenhui Ding, Xiaodi Xue, Yimeng Jiang","doi":"10.3389/fcvm.2025.1490436","DOIUrl":null,"url":null,"abstract":"<p><p>Noonan syndrome with multiple lentigines (NSML) is a rare autosomal dominant disorder, primarily caused by variants in the <i>PTPN11</i> 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.</p>","PeriodicalId":12414,"journal":{"name":"Frontiers in Cardiovascular Medicine","volume":"12 ","pages":"1490436"},"PeriodicalIF":2.8000,"publicationDate":"2025-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11782280/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Frontiers in Cardiovascular Medicine","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.3389/fcvm.2025.1490436","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/1/1 0:00:00","PubModel":"eCollection","JCR":"Q2","JCRName":"CARDIAC & CARDIOVASCULAR SYSTEMS","Score":null,"Total":0}
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.
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.