Mitral stenosis/aortic atresia (MS/AA) has been reported as a high-risk variant of hypoplastic left heart syndrome (HLHS), potentially related to ventriculocoronary connections (VCCs) or endocardial fibroelastosis (EFE) and myocardial hypoperfusion. We aimed to identify echocardiographic and clinical factors associated with early death or transplant in this group. Patients with HLHS MS/AA treated at our center between 2000 and 2020 were included. Pre—stage I palliation echocardiograms were reviewed. Certain imaging factors, such as determination of VCC, EFE, and measurement of tricuspid annular plane systolic excursion were measured from retrospective review of preoperative images; others were derived from clinical reports. Groups were compared according to primary outcome of death or transplant prior to stage II palliation. Of 141 patients included, 39 (27.7%) experienced a primary outcome. Ventriculocoronary connections were identified in 103 (73.0%) patients and EFE in 95 (67.4%) patients. Among imaging variables, smaller ascending aorta size (median, 2.2 [interquartile range (IQR) 1.7-2.8] vs 2.6 [2.2-3.4] mm, = .01) was associated with primary outcome. There was similar frequency of VCC (74.4% vs 72.5%, = .83), EFE (59.0% vs 72.5%, = .19), moderate or greater tricuspid regurgitation (5.1% vs 5.9%, = 1.00), and similar right ventricular systolic function (indexed tricuspid annular plane systolic excursion 32.5 ± 7.3 vs 31.4 ± 7.2 mm/m, = .47) in the primary outcome group compared to other patients. Clinical factors associated with primary outcome included lower birth weight (mean, 2.8 ± SD 0.8 vs 3.3 ± 0.5 kg, = .0003), gestational age <37 weeks (31.6% vs 4.9%, < .0001), longer cardiopulmonary bypass time (median, 112 [IQR, 93-162] vs 82 [71-119] minutes, = .001), longer intensive care unit length of stay (median, 19 [IQR, 10-30] vs 10 [7-15] days, = .001), and extracorporeal membrane oxygenation following stage I palliation (43.6% vs 8.8%, < .0001). Presence of VCCs and EFE was not associated with death or transplant after controlling for birth weight and era of stage I palliation. In one of the largest reported single-center cohorts of HLHS MS/AA, there were few pre–stage I palliation imaging characteristics associated with primary outcome. Imaging findings evaluated in this study, including the presence of VCC and/or EFE as determined using highly sensitive echocardiogram criteria, should not preclude intervention, although impact on long-term outcomes requires further evaluation.

中文翻译：

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左心发育不全综合征伴二尖瓣狭窄和主动脉闭锁——超声心动图检查结果和早期结果

据报道，二尖瓣狭窄/主动脉闭锁（MS/AA）是左心发育不全综合征（HLHS）的高危变异，可能与心室冠状动脉连接（VCC）或心内膜弹力纤维增生症（EFE）和心肌灌注不足有关。我们的目的是确定与该组患者早期死亡或移植相关的超声心动图和临床因素。纳入 2000 年至 2020 年间在我们中心接受治疗的 HLHS MS/AA 患者。回顾了 I 期姑息治疗前超声心动图。某些影像学因素，例如 VCC、EFE 的测定和三尖瓣环平面收缩期偏移的测量，是通过术前图像的回顾性检查来测量的；其他的则来自临床报告。根据第二阶段姑息治疗之前死亡或移植的主要结局对各组进行比较。在 141 名患者中，39 名 (27.7%) 经历了主要结局。 103 名 (73.0%) 患者发现了心室冠状动脉连接，95 名 (67.4%) 患者发现了 EFE。在影像学变量中，较小的升主动脉尺寸（中位数，2.2 [四分位距 (IQR) 1.7-2.8] vs 2.6 [2.2-3.4] mm，= 0.01）与主要结局相关。 VCC（74.4% vs 72.5%，= .83）、EFE（59.0% vs 72.5%，= .19）、中度或更大三尖瓣反流（5.1% vs 5.9%，= 1.00）以及类似的右与其他患者相比，主要结果组的心室收缩功能（指数三尖瓣环平面收缩期偏移 32.5 ± 7.3 vs 31.4 ± 7.2 mm/m，= .47）。与主要结局相关的临床因素包括出生体重较低（平均值，2.8 ± SD 0.8 vs 3.3 ± 0.5 kg，= .0003）、胎龄<37周（31.6% vs 4.9%，< .0001）、较长的体外循环时间（中位数，112 [IQR，93-162] vs 82 [71-119] 分钟，= .001)，更长的重症监护室住院时间（中位数，19 [IQR，10-30] vs 10 [7-15] 天, = .001)，以及 I 期姑息治疗后的体外膜氧合 (43.6% vs 8.8%, < .0001)。在控制出生体重和 I 期姑息治疗时期后，VCC 和 EFE 的存在与死亡或移植无关。在报道最多的 HLHS MS/AA 单中心队列之一中，几乎没有与主要结局相关的 I 期前姑息成像特征。本研究中评估的影像学结果，包括使用高度敏感的超声心动图标准确定的 VCC 和/或 EFE 的存在，不应排除干预措施，尽管对长期结果的影响需要进一步评估。