不典型的临床特征在一个小男孩与LMNA突变：扩大谱板病。

IF 0.7 4区医学 Q4 CARDIAC & CARDIOVASCULAR SYSTEMS

Cardiology in the Young Pub Date : 2025-09-30 DOI:10.1017/S1047951125109311

Nicoletta Cantarutti, Maria C Casarini, Fabrizio Drago

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引用次数: 0

摘要

层压板病是一组遗传性疾病，具有新的和非典型的表现。我们报告一例17岁的男孩LMNA突变，表现为扩张性心肌病、主动脉根扩张、脑桥海绵状血管瘤、感音神经性听力损失和骨源性肉瘤。这些发现扩大了层压板病的已知表型谱，并强调了从小就进行多学科评估的必要性。

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Atypical clinical features in a young boy with LMNA mutation: expanding the spectrum of laminopathies.

Laminopathies represent a group of inherited disorders, with emerging novel and atypical manifestations. We present the case of a 17-year-old boy with LMNA mutation, showing dilated cardiomyopathy, aortic root dilatation, pontine cavernous angiomas, sensorineural hearing loss, and osteogenic sarcoma. These findings expand the known phenotypic spectrum of laminopathies and highlight the need for multidisciplinary evaluation from a young age.

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来源期刊

Cardiology in the Young 医学-小儿科

CiteScore

1.70

自引率

10.00%

发文量

715

审稿时长

4-8 weeks

期刊介绍： Cardiology in the Young is devoted to cardiovascular issues affecting the young, and the older patient suffering the sequels of congenital heart disease, or other cardiac diseases acquired in childhood. The journal serves the interests of all professionals concerned with these topics. By design, the journal is international and multidisciplinary in its approach, and members of the editorial board take an active role in the its mission, helping to make it the essential journal in paediatric cardiology. All aspects of paediatric cardiology are covered within the journal. The content includes original articles, brief reports, editorials, reviews, and papers devoted to continuing professional development.