Advances in molecular genetics for pulmonary atresia

被引：10

作者：

Gao, Manchen ^{[1
]}

He, Xiaomin ^{[1
]}

Zheng, Jinghao ^{[1
]}

机构：

[1] Shanghai Jiao Tong Univ, Sch Med, Shanghai Childrens Med Ctr, Dept Cardiothorac Surg, 1678 Dongfang Rd, Shanghai 200127, Peoples R China

来源：

CARDIOLOGY IN THE YOUNG | 2017年 / 27卷 / 02期

关键词：

CHD; pulmonary atresia; copy number variants; gene mutations; CONGENITAL HEART-DEFECTS; HYPOPLASTIC LEFT-HEART; COPY-NUMBER VARIANTS; CHROMOSOME; 1Q21.1; 22Q11.2; DELETION; MYH6; MUTATIONS; DISEASE; ASSOCIATION; RISK; POLYMORPHISMS;

D O I：

10.1017/S1047951116001487

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：207 / 216

页数：10

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