Congenital heart disease

Genetic variations of ISL1 associated with human congenital heart disease in Chinese Han people

Z. L. Luo, Sun, H., Yang, Z. Q., Ma, Y. H., Gu, Y., He, Y. Q., Wei, D., Xia, L. B., Yang, B. H., and Guo, T., “Genetic variations of ISL1 associated with human congenital heart disease in Chinese Han people”, vol. 13, pp. 1329-1338, 2014.

Congenital heart disease (CHD) is the most common birth abnormality, but the etiology of CHD is unknown. ISL1 may play a fundamental role in cardiac morphogenesis, and mutations of this gene could cause CHD. To evaluate whether genetic variations of ISL1 are associated with CHD in Chinese Han people, polymerase chain reaction restriction fragment-length polymorphism and SNaPshot were used to examine 9 polymorphisms of ISL1 in 233 patients with CHD as well as 288 healthy controls. We found that one SNP (rs1017) in ISL1 was significantly associated with simple CHD.

Genetic variants of the endothelial NO synthase gene (eNOS) may confer increased risk of sporadic congenital heart disease

K. Zhou, Wang, Y., Peng, W., Sun, J., Qing, Y. M., and Mo, X. M., “Genetic variants of the endothelial NO synthase gene (eNOS) may confer increased risk of sporadic congenital heart disease”, vol. 13, pp. 3805-3811, 2014.

The endothelial NO synthase (eNOS) enzyme is expressed during the early stages of cardiogenesis and plays an important role in normal heart development. Genetic variations of eNOS G894T have been shown to influence individual susceptibility to some phenotypes of congenital heart disease (CHD) in different populations. We conducted a case-control study comprised of 945 CHD patients and 972 non-CHD individuals in a Chinese population.

Spectrum and features of congenital heart disease in Xi'an, China as detected using fetal echocardiography

Y. J. Wei, Liu, B. M., Zhou, Y. H., Jia, X. H., Mu, S. G., Gao, X. R., Yang, M. L., and Zhang, Y., “Spectrum and features of congenital heart disease in Xi'an, China as detected using fetal echocardiography”, vol. 13, pp. 9412-9420, 2014.

This study aimed to investigate the spectrum and features of congenital heart disease (CHD) in Xi’an, China using fetal echocardiography. All pregnant women referred for fetal echocardiography underwent a systematic fetal echocardiographic examination. Each case of complex defects was diagnosed according to the predominant pathophysiology, and the overall frequency of each defect was recorded and classified according to its location in the fetal heart. CHD was diagnosed in 195 fetuses.

Single-nucleotide polymorphism of the pri-miR-34b/c gene is not associated with susceptibility to congenital heart disease in the Han Chinese population

Y. - M. Liu, Wang, Y., Peng, W., Wu, Z., Wang, X. - H., Wang, M. - L., Wang, W., Sun, J., Zhang, Z. - D., and Mo, X. - M., “Single-nucleotide polymorphism of the pri-miR-34b/c gene is not associated with susceptibility to congenital heart disease in the Han Chinese population”, vol. 12, pp. 2937-2944, 2013.

Recent evidence has shown that the microRNA polymorphism may play an important role in the susceptibility to congenital heart disease (CHD). A potentially functional SNP rs4938723 (T>C) in the promoter region of pri-miR-34b/c might affect transcription factor GATA binding and therefore pri-miR-34b/c expression. We genotyped the pri-miR-34b/c polymorphism in a case-control study of 590 patients and 672 controls in a Han Chinese population and assessed the effects of the pri-miR-34b/c polymorphism on CHD susceptibility by TaqMan SNP genotyping assay.

Novel NKX2-5 mutations responsible for congenital heart disease

J. Wang, Liu, X. Y., and Yang, Y. Q., “Novel NKX2-5 mutations responsible for congenital heart disease”, vol. 10, pp. 2905-2915, 2011.

Congenital heart disease (CHD) is the most common birth defect and is the leading cause of infant morbidity and mortality resulting from birth defects. Increasing evidence demonstrates that genetic variation in the NKX2-5 gene, which encodes a homeobox-containing transcription factor crucial to cardiogenesis, is an important molecular determinant for CHD. Nevertheless, the genetic components underlying CHD remain largely unknown. We screened NKX2-5 for potential molecular defects in patients with CHD.

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