儿童的左心室非收缩:心声图随访和一级亲属的患病率
Thilde O Kock1,2,3, Marie F Børresen1,2,3, Anne-Sophie Sillesen1,2
1Department of Cardiology, Copenhagen University Hospital Herlev-Gentofte, Copenhagen, Denmark.
JACC. Advances
|June 28, 2024
概括
与同龄人相比,儿童的左心室非紧缩 (LVNC) 显示出持续的缩功能障碍. 值得注意的是,30%的受影响儿童的一级亲属也符合LVNC标准,这表明存在潜在的遗传联系.
科学领域:
- 心脏病学 心脏病学
- 儿童心脏病学 儿童心脏病学
- 遗传学 是一个遗传学.
背景情况:
- 左心室非紧缩 (LVNC) 是一种罕见的先天性心脏病,其特征是左心室心肌中过度的轨道积分和深深的深处.
- LVNC会导致系统功能受损,心律失常和心力衰竭.
研究的目的:
- 评估出生时被诊断为LVNC的儿童的左心室 (LV) 功能和形态的变化,从婴儿期到2-4岁.
- 确定患有LVNC的儿童的一级亲属中LVNC的流行率.
主要方法:
- 在出生时对患有和没有LVNC的儿童进行心声回顾分析,在2-4年后进行随访.
- 基于非紧心肌与紧心肌比率≥2的LVNC诊断,至少在一个LV段.
- 评估儿童及其一级亲属的LV功能 (射出分数) 和轨道积分的程度.
主要成果:
- 在出生时患有LVNC的儿童在2-4岁时与对照人群相比显示持续较低的LV射出分数 (49%vs60%,P<0.001).
- 在患有LVNC的儿童中,从出生到随访期间,没有观察到轨道运动或LV功能障碍的显著进展.
- 患有LVNC的儿童的一级亲属中有很大一部分 (30%) 符合LVNC的诊断标准,而对照组中没有一个 (P < 0.001).
结论:
- 在出生时诊断出LVNC的儿童表现出持续减少的缩功能,但在2至4岁时没有逐渐的功能障碍或缩.
- 在一级亲属中LVNC的高患病率表明,这种疾病的病因中存在着重要的遗传成分.
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