Pediatric Cardiology

, Volume 40, Issue 4, pp 762–767 | Cite as

Rare Copy Number Variations Might Not be Involved in the Molecular Pathogenesis of PA–IVS in an Unselected Chinese Cohort

  • Xiaomin He
  • Xiaoqing Zhang
  • Hui Jing
  • Xiaoyang Zhang
  • Manchen Gao
  • Huiwen Chen
  • Juan Geng
  • Zhaojing Zheng
  • Qihua Fu
  • Zhongqun ZhuEmail author
  • Jinghao ZhengEmail author
Original Article


Congenital heart defect (CHD) is one of the most common birth defects in China, while pulmonary atresia with intact ventricular septum (PA–IVS) is the life-threatening form of CHD. Numerous previous studies revealed that rare copy number variants (CNVs) play important roles in CHD, but little is known about the prevalence and role of rare CNVs in PA–IVS. In this study, we conducted a genome-wide scanning of rare CNVs in an unselected cohort consisted of 54 Chinese patients with PA–IVS and 20 patients with pulmonary atresia with ventricular septal defect (PA–VSD). CNVs were identified in 6/20 PA–VSD patients (30%), and three of these CNVs (15%) were considered potentially pathogenic. Two pathogenic CNVs occurred at a known CHD locus (22q11.2) and one likely pathogenic deletion located at 13q12.12. However, no rare CNVs were detected in patients with PA–IVS. Potentially pathogenic CNVs were more enriched in PA–VSD patients than in PA–IVS patients (p = 0.018). No rare CNVs were detected in patients with PA–IVS in our study. PA/IVS might be different from PA/VSD in terms of genetics as well as anatomy.


Copy number variant (CNV) Pulmonary atresia with ventricular septal defect (PA–VSD) Pulmonary atresia with intact ventricular septum (PA–IVS) Congenital heart defect (CHD) 



We thank all the patients for their participating in this study.

Author Contributions

XMH and XQZ performed the experiments and drafted the manuscript. HJ, XYZ, and MCG collected the samples. JG and ZJZ performed the bioinformatics analyses. HWC and QHF helped with the analysis and writing of the manuscript. ZQZ and JHZ conceived of and supervised the overall research. All authors read, approved and contributed to the final manuscript.


The study was supported by the National Key R&D Program of China (Grant No. 2017YFC1308100), the National Natural Science Foundation of China (Grant Number 81501604 and 81771977), the Biomedical Engineering Fund of Shanghai Jiao Tong University (Grant No. YG2015MS34), and the Science and Technology Development Fund of Pudong New Area (Grant No. PKJ2017-Y02).

Compliance with Ethical Standards

Conflict of interest

The authors declare that they have no interest to disclose.

Ethical Approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Informed Consent

Informed consent was obtained from all individual participants included in the study.

Supplementary material

246_2019_2062_MOESM1_ESM.docx (15 kb)
Supplementary Table 1 (DOCX 16 KB)


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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Department of Pediatric Cardiothoracic SurgeryShanghai Children’s Medical Center, Shanghai Jiao Tong University School of MedicineShanghaiChina
  2. 2.The Department of Laboratory Medicine, Shanghai Children’s Medical CenterShanghai Jiaotong University School of MedicineShanghaiChina
  3. 3.Hangzhou Joingenome DiagnosticsHangzhouChina

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