一种罕见的PRDM16基因变异与具有复杂副通路特征的沃尔夫-帕金森-怀特综合征和左室非压实性心肌病有关。

IF 0.7 4区医学 Q4 CARDIAC & CARDIOVASCULAR SYSTEMS Cardiology in the Young Pub Date : 2025-02-03 DOI:10.1017/S1047951124036631

Krishna Kishore Umapathi, Stanley B Schmidt, Utkarsh Kohli

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引用次数: 0

摘要

Wolff-Parkinson-White综合征不仅与先天性心脏异常和心肌病有关，而且家族聚集性Wolff-Parkinson-White综合征也有报道。尽管这些众所周知的关联，直接的遗传病因很少涉及沃尔夫-帕金森-怀特综合征患者。我们报告一位17岁的女孩，因pr结构域蛋白16的罕见遗传变异而患有沃尔夫-帕金森-怀特综合征和左心室非压实性心肌病。该报告补充了关于PRDM16、左心室非压实和Wolff-Parkinson-White综合征之间关系的文献综述。

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A rare genetic variant in PRDM16 is associated with Wolff-Parkinson-White syndrome with complex accessory pathway characteristics and left ventricular non-compaction cardiomyopathy.

Not only has Wolff-Parkinson-White syndrome been associated with congenital cardiac abnormalities and cardiomyopathies, but familial clustering of Wolff-Parkinson-White syndrome has also been reported. Despite these well-known associations, direct genetic aetiology is rarely implicated in patients with Wolff-Parkinson-White syndrome. We report a 17-year-old girl with Wolff-Parkinson-White syndrome and left ventricular non-compaction cardiomyopathy due to a rare genetic variant in PR-domain containing protein 16. The report is supplemented by a comprehensive review of literature on association between PRDM16, left ventricular non-compaction and Wolff-Parkinson-White syndrome.

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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.