Infant congenital heart disease prevalence and mortality in French Guiana: a population-based study

Lucron, Hugues; Brard, Mélanie; d’Orazio, Julie; Long, Laurence; Lambert, Véronique; Zedong-Assountsa, Serge; Le Harivel de Gonneville, Alix; Ahounkeng, Patrick; Tuttle, Saskia; Stamatelatou, Marianna; Grierson, Rory; Inamo, Jocelyn; Cuttone, Fabio; Elenga, Narcisse; Bonnet, Damien; Banydeen, Rishika

doi:10.1016/j.lana.2023.100649

Cited by 3 publications

(1 citation statement)

References 34 publications

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“…Although great progress has been made, the elimination of CHD remains a great challenge. On the one hand, as a public health issue driven mainly by genetics, it is difficult to remove the genetic predisposition and other environmental contributors that once existed [ 30 ]. On the other hand, timely diagnosis and treatment is still an issue to be solved.…”

Section: Discussionmentioning

confidence: 99%

Trend of Mortality Due to Congenital Anomalies in Children Younger Than 5 Years in Eastern China, 2012-2021: Surveillance Data Analysis

Dong,

Guo,

Wang

et al. 2024

JMIR Public Health Surveill

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Background As one of the leading causes of child mortality, deaths due to congenital anomalies (CAs) have been a prominent obstacle to meet Sustainable Development Goal 3.2. Objective We conducted this study to understand the death burden and trend of under-5 CA mortality (CAMR) in Zhejiang, one of the provinces with the best medical services and public health foundations in Eastern China. Methods We used data retrieved from the under-5 mortality surveillance system in Zhejiang from 2012 to 2021. CAMR by sex, residence, and age group for each year was calculated and standardized according to 2020 National Population Census sex- and residence-specific live birth data in China. Poisson regression models were used to estimate the annual average change rate (AACR) of CAMR and to obtain the rate ratio between subgroups after adjusting for sex, residence, and age group when appropriate. Results From 2012 to 2021, a total of 1753 children died from CAs, and the standardized CAMR declined from 121.2 to 62.6 per 100,000 live births with an AACR of –9% (95% CI –10.7% to –7.2%; P<.001). The declining trend was also observed in female and male children, urban and rural children, and neonates and older infants, and the AACRs were –9.7%, –8.5%, –8.5%, –9.2%, –12%, and –6.3%, respectively (all P<.001). However, no significant reduction was observed in children aged 1-4 years (P=.22). Generally, the CAMR rate ratios for male versus female children, rural versus urban children, older infants versus neonates, and older children versus neonates were 1.18 (95% CI 1.08-1.30; P<.001), 1.20 (95% CI 1.08-1.32; P=.001), 0.66 (95% CI 0.59-0.73; P<.001), and 0.20 (95% CI 0.17-0.24; P<.001), respectively. Among all broad CA groups, circulatory system malformations, mainly deaths caused by congenital heart diseases, accounted for 49.4% (866/1753) of deaths and ranked first across all years, although it declined yearly with an AACR of –9.8% (P<.001). Deaths due to chromosomal abnormalities tended to grow in recent years, although the AACR was not significant (P=.90). Conclusions CAMR reduced annually, with cardiovascular malformations ranking first across all years in Zhejiang, China. Future research and practices should focus more on the prevention, early detection, long-term management of CAs and comprehensive support for families with children with CAs to improve their survival chances.

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Section: Discussionmentioning

confidence: 99%

Trend of Mortality Due to Congenital Anomalies in Children Younger Than 5 Years in Eastern China, 2012-2021: Surveillance Data Analysis

Dong,

Guo,

Wang

et al. 2024

JMIR Public Health Surveill

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Epidemiological Characteristics and Risk Factors Analysis of Congenital Heart Disease in Children in Aksu Region

吉

2024

ACM

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Discovery and functional investigation of BMP4 as a new causative gene for human congenital heart disease

Wang

2024

Am J Transl Res

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Objective: Aggregating evidence highlights the strong genetic basis underpinning congenital heart disease (CHD). Here BMP4 was chosen as a prime candidate gene causative of human CHD predominantly because BMP4 was amply expressed in the embryonic hearts and knockout of Bmp4 in mice led to embryonic demise mainly from multiple cardiovascular developmental malformations. The aim of this retrospective investigation was to discover a novel BMP4 mutation underlying human CHD and explore its functional impact. Methods: A sequencing examination of BMP4 was implemented in 212 index patients suffering from CHD and 236 unrelated non-CHD individuals as well as the family members available from the proband carrying a discovered BMP4 mutation. The impacts of the discovered CHD-causing mutation on the expression of NKX2-5 and TBX20 induced by BMP4 were measured by employing a dual-luciferase analysis system. Results: A new heterozygous BMP4 mutation, NM_001202.6:c.318T>G;p. (Tyr106*), was found in a female proband affected with familial CHD. Genetic research of the mutation carrier's relatives unveiled that the truncating mutation was in co-segregation with CHD in the pedigree. The nonsense mutation was absent from 236 unrelated non-CHD control persons. Quantitative biologic measurement revealed that Tyr106*-mutant BMP4 failed to induce the expression of NKX2-5 and TBX20, two genes whose expression is lost in CHD. Conclusion: The current findings indicate BMP4 as a new gene predisposing to human CHD, allowing for improved prenatal genetic counseling along with personalized treatment of CHD patients.

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Infant congenital heart disease prevalence and mortality in French Guiana: a population-based study

Cited by 3 publications

References 34 publications

Trend of Mortality Due to Congenital Anomalies in Children Younger Than 5 Years in Eastern China, 2012-2021: Surveillance Data Analysis

Trend of Mortality Due to Congenital Anomalies in Children Younger Than 5 Years in Eastern China, 2012-2021: Surveillance Data Analysis

Epidemiological Characteristics and Risk Factors Analysis of Congenital Heart Disease in Children in Aksu Region

Discovery and functional investigation of BMP4 as a new causative gene for human congenital heart disease

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