The presence of a genetic condition is a risk factor for increased mortality in hypoplastic left heart syndrome (HLHS). Speckle tracking strain analysis in interstage echocardiograms have shown promise in identifying patients with HLHS at increased risk of mortality. We hypothesized that fetuses with a genetic condition and HLHS have impaired right ventricular global longitudinal strain compared with fetuses with HLHS and no evident genetic condition. We performed a retrospective analysis of 60 patients diagnosed in fetal life with HLHS from 11/2015 to 11/2019. We evaluated presenting echocardiograms and calculated right ventricular global longitudinal strain (RV GLS) and fractional area of change (FAC) using post-processing software. We first compared RV GLS and FAC between those with genetic conditions to those without. We examined the secondary outcome of mortality among those with and without genetic conditions and among HLHS subgroups. Of the 60 patients with available genetic testing, 11 (18%) had an identified genetic condition. Neither RV GLS nor FAC was significantly different between patients with and without genetic conditions. There was no difference in RV GLS or FAC among HLHS phenotype or those who died or survived as infants. However, patients with a genetic syndrome had increased neonatal and overall mortality. In this cohort, RV GLS did not differ between those with and without a genetic diagnosis, among HLHS phenotypes, or between those surviving and dying as infants. Further analysis of strain throughout gestation and after birth could provide insight into the developing heart in fetuses with HLHS.

中文翻译：

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左心发育不全综合征胎儿的右心室整体纵向应变在有和没有遗传条件的胎儿之间没有差异。

遗传病的存在是左心发育不全综合征 (HLHS) 死亡率增加的危险因素。阶段间超声心动图中的斑点追踪应变分析已显示出在识别 HLHS 患者死亡风险增加方面的前景。我们假设，与具有 HLHS 且没有明显遗传状况的胎儿相比，具有遗传状况和 HLHS 的胎儿具有受损的右心室整体纵向应变。我们对 2015 年 11 月至 2019 年 11 月在胎儿生命中诊断为 HLHS 的 60 名患者进行了回顾性分析。我们使用后处理软件评估呈现的超声心动图并计算右心室整体纵向应变 (RV GLS) 和变化面积分数 (FAC)。我们首先比较了有遗传条件的人和没有遗传条件的人之间的 RV GLS 和 FAC。我们检查了有和没有遗传条件的人以及 HLHS 亚组的死亡率的次要结果。在 60 名可进行基因检测的患者中，11 名（18%）有确定的遗传病。RV GLS 和 FAC 在有和没有遗传疾病的患者之间没有显着差异。HLHS 表型或婴儿死亡或存活的 RV GLS 或 FAC 没有差异。然而，遗传综合征患者的新生儿死亡率和总死亡率增加。在这个队列中，RV GLS 在有和没有基因诊断的人之间、在 HLHS 表型之间或在婴儿时存活和死亡的人之间没有差异。对整个妊娠期和出生后的应变进行进一步分析可以深入了解 HLHS 胎儿的心脏发育。