儿童心肌病伴预兴奋和传导异常

IF 1.7 Q2 CARDIAC & CARDIOVASCULAR SYSTEMS

Journal of Arrhythmia Pub Date : 2025-09-12 DOI:10.1002/joa3.70191

Gorav Sharma, Ansh Goswami, Siddharthan Deepti, Neeraj Parakh, Sudheer Kumar Arava

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引用次数: 0

摘要

一个11岁的男孩提出扩张性心肌病，与束室通路和窦房结和房室传导异常有关。全外显子组测序揭示了LIM结构域结合蛋白3 （LDB3）的一个新的不确定意义的变异，这是迄今为止尚未描述的。通过计算预测工具Polyphen2和SIFT预测该变异是有害的。该突变等位基因在患者体内是杂合的。分离分析结果显示，其父亲携带了相同的杂合型变异。据报道，这种病例很罕见。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

Cardiomyopathy With Preexcitation and Conduction Abnormalities in a Child

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Cardiomyopathy With Preexcitation and Conduction Abnormalities in a Child

An 11-year-old boy presented with dilated cardiomyopathy in association with a fasciculoventricular pathway and sinus node and atrioventricular conduction abnormalities. Whole exome sequencing revealed a novel variant of uncertain significance in LIM domain-binding protein 3 (LDB3) which has not been heretofore described. This variant was predicted to be deleterious by the computational prediction tools: Polyphen2 and SIFT. The mutated allele was heterozygous in the patient. Segregation analysis revealed that his father carried the same variant in heterozygous form. The case is reported for its rarity.

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