与PLD1突变相关的三重重复的胎儿先天性心脏病:一个病例报告
Yuki Masuda1,2, Yoko Nagayasu3, Hikaru Murakami1
1Department of Obstetrics and Gynecology, Osaka Medical and Pharmaceutical University, Takatsuki, Japan.
Journal of medical case reports
|September 28, 2023
概括
这项研究详细介绍了一例罕见的,由脂酶D1 (PLD1) 基因突变引起的连续三个胎儿先天性心脏缺陷. 这些发现突出了PLD1突变作为重复性心脏病和子宫内胎儿死亡的重要原因.
科学领域:
- 遗传学 遗传学 是一个
- 心脏病学 心脏病学
- 发展生物学 发展生物学
背景情况:
- 先天性心脏病 (CHD) 影响~1%的新生儿,遗传因素起着至关重要的作用.
- 虽然兄弟的复发是显著的 (3-9%),导致心脏病的致病基因仍然在很大程度上未被阐明.
- 脂酶D1 (PLD1) 是最近发现的一种涉及心脏发育的基因,发表的病例报告有限.
研究的目的:
- 研究复发性胎儿先天性心脏病的临床表现和遗传基础.
- 探索脂酶D1 (PLD1) 突变在三重胎儿心脏异常的独特病例中的作用.
- 建立一种潜在的遗传标记物,用于选患有先天性心脏病风险的后期怀孕.
主要方法:
- 使用下一代测序对胎儿样本 (带,胎盘) 和父母血液进行了全外体分析.
- 在四个怀孕中进行了详细的胎儿超声波和遗传分析.
- 病例报告详细介绍临床进展,诊断和遗传发现在一个家庭的复发性胎儿心脏缺陷.
主要成果:
- 在三个连续被诊断患有严重先天性心脏病的胎儿中鉴定出半身性PLD1突变,包括管道动脉依赖的左心室单心室和肺动脉缩.
- 第四个胎儿出生时健康,对PLD1突变异质,父母也是如此.
- 这代表了兄弟病例中连续三次同卵性PLD1突变的首例报告,导致重复的先天性心脏病和子宫内胎儿死亡.
结论:
- 这些发现支持PLD1突变是导致先天性心脏病的原因,特别是右心室膜发育不良.
- 这一案例强调了PLD1基因分析在重复发作的胎儿心脏缺陷和子宫内胎儿死亡中的重要性.
- 进一步积累关于PLD1突变的数据对于全面了解其在心脏病中的作用至关重要.
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