Pediatric Cardiac Intensive Care Unit, Stollery Children's Hospital, Edmonton, Alberta, Canada;
Department of Pediatrics, University of Saskatchewan, Saskatoon, Saskatchewan, Canada.
Pediatrics. 2018 Aug;142(2). doi: 10.1542/peds.2017-4267.
Infants with heterotaxy syndrome (HS) have abnormal lateralization of organs along the right-left body axis. Intestinal rotation abnormalities (IRAs) are a potential source of morbidity and mortality. For this study, our objective was to prospectively observe a cohort of infants with HS and determine the incidence and natural history of IRA.
Infants ≤6 months of age with HS were enrolled in this prospective observational study. Exclusion criteria were other congenital abnormalities that necessitated abdominal surgery. HS was defined as any arrangement of organs that was not situs solitus or situs inversus along with associated congenital heart disease. The investigation for IRA was at the discretion of each participating center.
Infants were recruited from January 2012 to December 2016. Thirty-eight infants from 7 institutions were included; 22 infants had right isomerism and 16 infants had left isomerism. Twenty-nine infants (76%) were evaluated for IRAs; 21 of 29 evaluations (72%) were abnormal. Eight infants were investigated because of symptoms, and 21 infants were evaluated routinely. The median age at symptom presentation was 46 days (range: 5-171 days). Seven infants had a Ladd procedure; 4 were prophylactic, with 3 as part of a combined procedure, and 3 were emergent. No child suffered acute midgut volvulus over a median follow-up of 1.6 years (range: 0.06-4.93 years).
IRAs are common in infants with HS. Infants with symptoms presented by 6 months of age. There was no failure of expectant management resulting in midgut volvulus during a median follow-up of 1.6 years.
患有内脏转位综合征（HS）的婴儿其器官沿左右体轴的侧向化存在异常。肠旋转异常（IRA）是发病率和死亡率的潜在来源。在这项研究中，我们的目的是前瞻性观察一组患有 HS 的婴儿，并确定 IRA 的发生率和自然史。
本前瞻性观察性研究纳入了≤6 个月龄的 HS 婴儿。排除标准为需要腹部手术的其他先天性异常。HS 定义为任何器官排列，不是 situs solitus 或 situs inversus ，同时伴有先天性心脏病。IRA 的调查由每个参与中心自行决定。
研究对象于 2012 年 1 月至 2016 年 12 月招募。来自 7 个机构的 38 名婴儿入组；22 名婴儿为右异构，16 名婴儿为左异构。29 名婴儿（76%）接受了 IRA 评估；29 次评估中有 21 次（72%）异常。8 名婴儿因症状接受了检查，21 名婴儿接受了常规评估。症状出现的中位年龄为 46 天（范围：5-171 天）。7 名婴儿接受了 Ladd 手术；4 例为预防性手术，其中 3 例为联合手术，3 例为急症手术。在中位随访 1.6 年（范围：0.06-4.93 年）期间，没有婴儿发生急性中肠扭转。
IRA 在患有 HS 的婴儿中很常见。有症状的婴儿在 6 个月龄时出现症状。在中位随访 1.6 年期间，没有因中肠扭转而导致的期待治疗失败。
