Prevalence of congenital heart disease at live birth: an accurate assessment by echocardiographic screening

Zhao, Qiyi; Ma, Xiaojing; Jia, Bing; Huang, Guoying

doi:10.1111/apa.12170

Cited by 75 publications

(48 citation statements)

References 24 publications

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“…However, the etiology of CHD remains largely unknown. Currently, the prevalence of CHD in China has reached approximately 26.6 per 1000 newborns [2]. Cyanotic CHD was a type of a severe congenital disease that threatens newborns’ survival and quality of life, and Tetralogy of Fallot (TOF) is the most prevalent type [3].…”

Section: Introductionmentioning

confidence: 99%

Multiple gene variations contributed to congenital heart disease via GATA family transcriptional regulation

et al. 2017

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BackgroundCongenital heart disease (CHD) is a common birth defect, and most cases occur sporadically. Mutations in key genes that are responsible for cardiac development could contribute to CHD. To date, the genetic causes of CHD remain largely unknown.MethodsIn this study, twenty-nine candidate genes in CHD were sequenced in 106 patients with Tetralogy of Fallot (TOF) using target exome sequencing (TES). The co-immunoprecipitation (CO-IP) and luciferase reporter gene assays were performed in HEK293T cells, and wild-type and mutant mRNA of ZFPM2 were microinjected into zebrafish embryos.ResultsRare variants in key cardiac transcriptional factors and JAG1 were identified in the patients. Four patients carried multiple gene variants. The novel E1148K variant was located at the eighth Zinc-finger domain of FOG2 protein. The CO-IP assays in the HEK293T cells revealed that the variant significantly damaged the interaction between ZFPM2/FOG2 and GATA4. The luciferase reporter gene assays revealed that the E1148K mutant ZFPM2 protein displayed a significantly greater inhibition of the transcriptional activation of GATA4 than the wild-type protein. The wild-type mRNA and the E1148K mutant mRNA of ZFPM2 were injected into zebrafish embryos. At 48 hpf, in the mutant mRNA injection group, the number of embryos with an abnormal cardiac chamber structure and a loss of left–right asymmetry was increased. By 72 hpf, the defects in the chamber and left–right asymmetry became obvious.ConclusionsWe performed TES in sporadic TOF patients and identified rare variants in candidate genes in CHD. We first validated the E1148 K variant in ZFPM2, which is likely involved in the pathogenesis of CHD via GATA4. Moreover, our results suggest that TES could be a useful tool for discovering sequence variants in CHD patients.Electronic supplementary materialThe online version of this article (doi:10.1186/s12967-017-1173-0) contains supplementary material, which is available to authorized users.

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Section: Introductionmentioning

confidence: 99%

Multiple gene variations contributed to congenital heart disease via GATA family transcriptional regulation

et al. 2017

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“…Ventricular septal defect (VSD) is the most common congenital heart defect, accounting for 20–30% of all congenital heart defects [2]. In a recent study, Zhao et al [3] described a 2.66% prevalence of CHD at live birth in China using echocardiographic screening, and they also found that only a 1.21% prevalence of CHD that could be detected by clinical evaluation, with the most common CHD as VSD at a prevalence of 1.73%. VSDs can occur alone or in combination with other cardiac defects.…”

Section: Introductionmentioning

confidence: 99%

Prediction of spontaneous closure of isolated ventricular septal defects in utero and postnatal life

Song

et al. 2016

BMC Pediatr

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BackgroundVentricular septal defect (VSD) is a highly prevalent fetal congenital heart defect, which can become spontaneously closed during infancy. The current study aims to characterize fetal VSDs that were subsequently spontaneously closed in the first 2 years of life in eastern China.MethodsBetween January 2011 and December 2013, 257 fetal patients diagnosed with isolated VSD by fetal echocardiography at Nanjing Maternity and Child Health Care Hospital, China, were enrolled in the study. Subjects were divided into three groups: group 1 = persistent VSD; group 2 = closed after birth; group 3 = closed during gestation. Fetal echocardiography data, physical features at birth and follow-up outcomes for 2 years were compared to identify factors contributing to spontaneous closure (SC) of VSD. A predictive formula was applied to patients admitted to hospital in the first quarter of 2014 (n = 23) for validation.ResultsSC occurred in 42.8% patients. Birth weight (3.095 ± 0.774, 3.174 ± 0.535, 3.499 ± 0.532 kg in groups 1, 2 and 3, respectively) and defect diameter (3.422 ± 0.972, 2.426 ± 0.599, 2.292 ± 0.479 mm, in groups 1, 2 and 3, respectively) showed statistically significant differences between the three groups (P = 0.004 and P = 0.000, respectively). Receiver operating characteristic (ROC) curves identified cut-off value for the defect diameter as 2.55 mm, and logistic regression analysis identified the SC probability = (1 + exp -[-2.151 − 0.716*birth weight + 1.393*diameter])-1. Results indicated that male fetuses, full-term birth, muscular VSD, and defects without blood flow crossing the septum, have higher incidence of SC.ConclusionsThe major determinants of SC of isolated VSD are birth weight and diameter of the defect. In addition, VSD location may also affect the SC incidence.

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“…A recent systematic review and meta-analysis comprising a large study population reported that the worldwide prevalence of CHD has increased substantially over time, from <1 per 1,000 live births in 1930 to 9 per 1,000 live births in recent years, corresponding to 1.35 million worldwide live births affected with CHD every year [ 9 ]. The prevalence may be even greater than previously thought as a recent study in a large cohort of neonates undergoing echocardiographic screening revealed a live birth prevalence of CHD of 26.6 per 1,000 [ 10 ]. To further complicate the epidemiology of CHD in neonates, a large regional variation in the prevalence has been reported in various countries [ 11 ].…”

Section: Epidemiology Of Congenital Heart Diseasementioning

confidence: 99%

Anesthesia for Cardiac Surgery in Neonates

Miller‐Hance

Gottlieb

Motta

2014

Neonatal Anesthesia

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Prevalence of congenital heart disease at live birth: an accurate assessment by echocardiographic screening

Abstract: Prevalence of CHD determined by echocardiography screening was higher but more accurate than that obtained from birth defect registries.

Cited by 75 publications

References 24 publications

Multiple gene variations contributed to congenital heart disease via GATA family transcriptional regulation

Multiple gene variations contributed to congenital heart disease via GATA family transcriptional regulation

Prediction of spontaneous closure of isolated ventricular septal defects in utero and postnatal life

Anesthesia for Cardiac Surgery in Neonates

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