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Advances in molecular genetics for pulmonary atresia

Published online by Cambridge University Press:  22 September 2016

Manchen Gao ,
Xiaomin He  and
Jinghao Zheng
Manchen Gao
Affiliation:
Department of Cardiothoracic Surgery, Shanghai Children’s Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China
Xiaomin He*
Affiliation:
Department of Cardiothoracic Surgery, Shanghai Children’s Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China
Jinghao Zheng*
Affiliation:
Department of Cardiothoracic Surgery, Shanghai Children’s Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China
*
Correspondence to: X. He & J. Zheng, Department of Cardiothoracic Surgery, Shanghai Children’s Medical Center, Shanghai Jiao Tong University School of Medicine, 1678 Dongfang Road, Shanghai, 200127, China. Tel: +86 21 3862 6161; Fax: +86 21 3862 6161; E-mail: mrxmhe@163.com; zhengjh210@163.com
Correspondence to: X. He & J. Zheng, Department of Cardiothoracic Surgery, Shanghai Children’s Medical Center, Shanghai Jiao Tong University School of Medicine, 1678 Dongfang Road, Shanghai, 200127, China. Tel: +86 21 3862 6161; Fax: +86 21 3862 6161; E-mail: mrxmhe@163.com; zhengjh210@163.com
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Abstract

Genetic and environmental factors may be similar in certain CHD. It has been widely accepted that it is the cumulative effect of these risk factors that results in disease. Pulmonary atresia is a rare type of complex cyanotic CHD with a poor prognosis. Understanding the molecular mechanism of pulmonary atresia is essential for future diagnosis, prevention, and therapeutic approaches. In this article, we reviewed several related copy number variants and related genetic mutations, which were identified in patients with pulmonary atresia, including pulmonary atresia with ventricular septal defect and pulmonary atresia with intact ventricular septum.

Keywords

CHDpulmonary atresiacopy number variantsgene mutations
Type
Review Articles
Information
Cardiology in the Young , Volume 27 , Issue 2 , March 2017 , pp. 207 - 216
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Copyright
© Cambridge University Press 2016 

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