Congenital heart disease (CHD) is a type of birth defects due to the abnormal development of heart and blood vessels during embryonic stage. Studies indicate that the etiology of CHD is complicated. Genetic and epigenetic mechanisms including chromosomal abnormalities, gene mutations, nucleic acid modifications, non-coding RNAs may play important roles in CHD. At present, genetic mechanisms such as chromosome abnormality and gene mutation have been widely used in the diagnosis and treatment of clinical diseases. However, the application of genetic and epigenetic modification in diagnosis and treatment of CHD still need further research. This paper reviews the relationship between chromosomal abnormality, gene mutation, copy number variation, epigenetic modification and the occurrence of CHD, which may provide a basis for further exploring the early diagnosis and individualized therapy of CHD.
先天性心脏病是胎儿期心脏及大血管发育异常所致的先天性畸形，是最常见的出生缺陷之一。先天性心脏病病因复杂，染色体异常、基因突变、核酸修饰、非编码RNA等遗传和表观遗传机制在其发生过程中发挥重要作用。现阶段，染色体异常、基因突变等遗传机制已经广泛应用于临床疾病的诊断与治疗。然而，针对遗传及表观遗传修饰在先天性心脏病的诊疗应用仍需深入研究。本文综述了染色体异常、基因突变、拷贝数变异及表观遗传修饰与先天性心脏病发生的关系，以期为进一步探究先天性心脏病早期诊断及个体化治疗提供依据。