大动脉转位：是异心综合征组中的左右侧缺陷还是流出道畸形？
Transposition of the great arteries: A laterality defect in the group of heterotaxy syndromes or an outflow tract malformation?
作者信息
Al-Zahrani Rana S, Alharbi Samaher H, Tuwaijri Rawan M A, Alzomaili Bayan T, Althubaiti Alaa, Yelbuz Talat Mesud
机构信息
College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Kingdom of Saudi Arabia.
Department of Cardiac Sciences, King Abdulaziz Cardiac Center, Section of Pediatric Cardiology, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Kingdom of Saudi Arabia.
出版信息
Ann Pediatr Cardiol. 2018 Sep-Dec;11(3):237-249. doi: 10.4103/apc.APC_24_18.
BACKGROUND/AIM: Transposition of the great arteries (TGA) is traditionally classified as a "conotruncal heart defect", implying that TGA evolves from abnormal development of the outflow tract (OFT) of the embryonic heart. However, recently published genetic data suggest that TGA may be linked to laterality gene defects rather than OFT gene defects. The aim of our study was to clarify whether there is any statistically significant link between TGA and clinically diagnosed laterality defects (heterotaxy).
METHODS
Retrospective cross-sectional analysis of 533 patients diagnosed with TGA at our cardiac center over a period of 13 years (2002-2015). Hospital informatics and digital data recording systems were used for collecting patients' data and all patients were reviewed to check the echocardiograms for verification of the diagnosis, type (TGA, congenitally corrected TGA (ccTGA), and levo-position of the great arteries (LGA)), complexity of TGA, and all other variables (e.g., abdominal organ arrangement, cardiac position, presence or absence of other cardiac defects).
RESULTS
Of 533 TGA patients, 495 (92.9%) had the usual arrangement of the internal organs, 21 (3.9%) had mirror-imagery, 7 (1.3%) had left and 10 (1.8%) had right isomerism. 444 (83.3%) patients had TGA. The number of patients who had usual visceral arrangement in each TGA type was: 418 (94.1%) in TGA, 49 (92.4%) in ccTGA, and 28 (77.7%) in LGA. 6 (1.4%) TGA patients, 4 (11.1%) patients with LGA were found to have right isomerism, while no ccTGA patient presented with this asymmetry. 4 (0.9%) TGA patients, 1 (1.9%) ccTGA patient and 2 (5.6%) patients with LGA had left isomerism. Heterotaxy (mirror-imagery, left and right isomerism) was more associated with LGA than TGA or ccTGA with a statistically significant difference ( value of 0.001).
CONCLUSION
In contrast to recently published genetic data, our morphological data do not disclose a significant link between TGA and heterotaxy.
背景/目的：大动脉转位（TGA）传统上被归类为“圆锥干心脏缺陷”，这意味着TGA是由胚胎心脏流出道（OFT）的异常发育演变而来。然而，最近公布的基因数据表明，TGA可能与左右侧基因缺陷有关，而非OFT基因缺陷。我们研究的目的是阐明TGA与临床诊断的左右侧缺陷（内脏异位）之间是否存在任何具有统计学意义的关联。
方法
对我们心脏中心在13年期间（2002 - 2015年）诊断为TGA的533例患者进行回顾性横断面分析。使用医院信息学和数字数据记录系统收集患者数据，并对所有患者进行复查，检查超声心动图以核实诊断、类型（TGA、先天性矫正型大动脉转位（ccTGA）和大动脉左旋位（LGA））、TGA的复杂性以及所有其他变量（如腹部器官排列、心脏位置、是否存在其他心脏缺陷）。
结果
在533例TGA患者中，495例（92.9%）内脏器官排列正常，21例（3.9%）呈镜像，7例（1.3%）为左侧异构，10例（1.8%）为右侧异构。444例（83.3%）患者为TGA。每种TGA类型中内脏排列正常的患者数量分别为：TGA中418例（94.1%），ccTGA中49例（92.4%），LGA中28例（77.7%）。6例（1.4%）TGA患者、4例（11.1%）LGA患者被发现有右侧异构，而ccTGA患者中未出现这种不对称情况。4例（0.9%）TGA患者、1例（1.9%）ccTGA患者和2例（5.6%）LGA患者有左侧异构。内脏异位（镜像、左侧和右侧异构）与LGA的关联比与TGA或ccTGA更强，差异具有统计学意义（P值为0.001）。
结论
与最近公布的基因数据相反，我们的形态学数据未揭示TGA与内脏异位之间存在显著关联。
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