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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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2025-01-01
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| Series: | Frontiers in Cardiovascular Medicine |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fcvm.2025.1490436/full |
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| author | Linghua Fan Jie Jiang Yan Zhang Xiaoning Han Wenhui Ding Xiaodi Xue Yimeng Jiang |
| author_facet | Linghua Fan Jie Jiang Yan Zhang Xiaoning Han Wenhui Ding Xiaodi Xue Yimeng Jiang |
| author_sort | Linghua Fan |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-6d757f3023f14e2d8bcc1259279e7564 |
| institution | Kabale University |
| issn | 2297-055X |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Cardiovascular Medicine |
| spelling | doaj-art-6d757f3023f14e2d8bcc1259279e75642025-01-17T06:50:59ZengFrontiers Media S.A.Frontiers in Cardiovascular Medicine2297-055X2025-01-011210.3389/fcvm.2025.14904361490436Case Report: A rare case of Noonan syndrome with multiple lentigines manifesting as cardiac enlargementLinghua FanJie JiangYan ZhangXiaoning HanWenhui DingXiaodi XueYimeng JiangNoonan 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.https://www.frontiersin.org/articles/10.3389/fcvm.2025.1490436/fullNoonan syndrome with multiple lentiginesheart failurecardiomegalyatrial fibrillationLEOPARD syndrome |
| spellingShingle | Linghua Fan Jie Jiang Yan Zhang Xiaoning Han Wenhui Ding Xiaodi Xue Yimeng Jiang Case Report: A rare case of Noonan syndrome with multiple lentigines manifesting as cardiac enlargement Frontiers in Cardiovascular Medicine Noonan syndrome with multiple lentigines heart failure cardiomegaly atrial fibrillation LEOPARD syndrome |
| title | Case Report: A rare case of Noonan syndrome with multiple lentigines manifesting as cardiac enlargement |
| title_full | Case Report: A rare case of Noonan syndrome with multiple lentigines manifesting as cardiac enlargement |
| title_fullStr | Case Report: A rare case of Noonan syndrome with multiple lentigines manifesting as cardiac enlargement |
| title_full_unstemmed | Case Report: A rare case of Noonan syndrome with multiple lentigines manifesting as cardiac enlargement |
| title_short | Case Report: A rare case of Noonan syndrome with multiple lentigines manifesting as cardiac enlargement |
| title_sort | case report a rare case of noonan syndrome with multiple lentigines manifesting as cardiac enlargement |
| topic | Noonan syndrome with multiple lentigines heart failure cardiomegaly atrial fibrillation LEOPARD syndrome |
| url | https://www.frontiersin.org/articles/10.3389/fcvm.2025.1490436/full |
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