新生儿先天性扩张型心肌病、胆汁淤积性肝损伤和高铁蛋白血症伴FHL2变异病例报告：提示可能的新表型

IF 0.7 4区医学 Q4 CARDIAC & CARDIOVASCULAR SYSTEMS

Cardiology in the Young Pub Date : 2025-10-03 DOI:10.1017/S1047951125109682

Hidenori Yamamoto, Naoki Ohashi, Taichi Kato

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引用次数: 0

摘要

一名男婴因胎儿水肿被诊断为先天性扩张型心肌病，尽管经过强化治疗，但在2个月后死亡。三外显子组测序鉴定为de novo FHL2变异（p.a g131cys）。他还出现了非心源性胆汁淤积性肝损伤和高铁蛋白血症，根据实验模型的支持证据，这可能代表了新的fhl2相关表型。

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Neonatal case of congenital dilated cardiomyopathy, cholestatic liver injury, and hyperferritinemia with FHL2 variant: a case report suggesting possible novel phenotypes.

A male infant with fetal hydrops was diagnosed with congenital dilated cardiomyopathy and died at 2 months despite intensive treatment. Trio-exome sequencing identified as de novo FHL2 variant (p.Arg131Cys). He also presented with non-cardiogenic cholestatic liver injury and hyperferritinemia, which may represent novel FHL2-related phenotypes based on supporting evidence from experimental models.

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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.