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杜琴肌力发育不良的早期心脏功能障碍:一个病例报告和文献更新

Maria Lupu¹, Iustina Mihaela Pintilie², Raluca Ioana Teleanu^1,2

¹Clinical Neurosciences Department, Paediatric Neurology, Faculty of Medicine, Carol Davila University of Medicine and Pharmacy, 020021 Bucharest, Romania.

International journal of molecular sciences

|February 26, 2025

概括

杜氏肌肉发育不良 (DMD) 可以导致早期的心脏问题. 这份病例报告详细介绍了一名患有扩张性心肌病的3岁儿童,强调早期心脏监测和DMD患者的个性化治疗.

科学领域:

遗传学遗传学是一个
心脏病学心脏病学
神经肌肉疾病神经肌肉疾病

背景情况:

杜琴肌肉发育不良症 (DMD) 是一种严重的X相关疾病,由于缺乏素,导致肌肉逐渐退化.
心脏参与,特别是扩张性心肌病变,是DMD发病率和死亡率的主要原因,通常在10岁后出现.
早期出现的心脏问题在DMD是罕见的,但显著影响患者的结果.

研究的目的:

报告一个罕见的早期发病的扩张性心肌病症的病例,该病例发生在患有杜氏肌肉发育不良的儿科患者身上.
审查基因型-表型相关性和DMD中心脏参与的新兴疗法.
突出早期和持续的心脏评估在管理DMD中的重要性.

主要方法:

一个3岁男孩的病例报告,该病例证实了dystrophin基因中55号外因子的缺失.
临床监测心脏功能,包括左心室功能障碍.
审查有关DMD心脏参与,遗传因素和治疗策略的现有文献.

主要成果:

患者在3年8个月时出现了扩张性心肌病症和渐进的左心室功能障碍.
标准治疗 (皮质类固醇,ACE抑制剂,β抑制剂) 在预防心脏恶化方面表现出有限的有效性.
特定的双素基因变异 (外因子12,14-17,31-42,45,48-49) 与更严重的心脏功能障碍有关.

结论:

这一案例强调了所有DMD患者早期和警的心脏监测的急需,无论年龄如何.
个性化治疗方法和新疗法对于管理DMD心脏参与的异质性至关重要.
对基因型-表型相关性的进一步研究对于改善心脏结果和开发针对DMD的有针对性的干预措施至关重要.

关键词:

杜申尼肌肉发育不良症杜申尼肌肉发育不良症心脏病理学心脏病理学扩张性心肌病症扩张性心肌病症双基因基因双基因基因突出跳过的突出跳过基因型表型基因型表型

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