婴儿多变性心肌病的表现型表达,基因型分析和临床结果:一项回顾性研究
Hisham Ahamed1, Shruti Varghese2, Georg Gutajahr3
1Department of Cardiology, Amrita Institute of Medical Sciences and Research Centre, Kochi, Kerala, India ahamed.hisham@gmail.com.
Archives of disease in childhood
|July 10, 2024
概括
婴儿多变性心肌病 (HCM) 是多样化的,与RASopathy,非综合征性原因和代谢错误在南亚是常见的. 早期诊断和综合护理改善了受影响婴儿的结果.
科学领域:
- 心脏病学 心脏病学
- 遗传学 是一个遗传学.
- 儿科 儿科 儿科
背景情况:
- 婴儿多变性心肌病 (HCM) 是一种复杂的心脏疾病,低收入和中等收入国家的数据有限.
- 这项研究通过在南亚人口中调查婴儿HCM来弥补这一差距.
研究的目的:
- 描述婴儿HCM的表型表现,遗传基础和短期结果.
- 在一个南亚的第三级推中心,提供关于这种情况的病因风景的见解.
主要方法:
- 对阿姆丽塔HCM队列的分析 (2011年1月 - 2021年7月).
- 评估诊断为HCM的婴儿的临床病史,心电图,心声和遗传分析.
主要成果:
- 34名婴儿被诊断患有婴儿HCM;常见病因包括RASopathy (38%),非综合征性 (35%) 和代谢天生的错误 (27%).
- 在20名患者的基因分析中,成功率为90%. 常见的表现是无法壮成长,呼吸障碍和心力衰竭.
- 心声检查显示左心室缩 (65%) 和阻塞性HCM (32%). 死亡率为每100个患者年10.0例,诊断时的年龄,性别和LVH作为风险因素.
结论:
- 婴儿HCM表现出显著的形态,功能和遗传异质性.
- 涉及心脏病学,代谢和遗传服务的综合护理对于优化婴儿HCM患者的结果至关重要.
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