Related Experiment Video
Updated: Jun 27, 2025
Fetal Mouse Cardiovascular Imaging Using a High-frequency Ultrasound 30/45MHZ System
Published on: May 5, 2018
Epigenetics of conotruncal congenital heart disease: Protocol for a systematic review and meta-analysis
Elhadi H Aburawi1, Linda Östlundh2, Hanan E Aburawi3
1Department of Pediatrics, UAE University, Al Ain, United Arab Emirates.
Insights
This systematic review protocol investigates epigenetic alterations in conotruncal congenital heart defects (CTD), exploring racial variations in associations and gene expression changes. Findings aim to inform targeted prevention strategies for congenital heart disease (CHD).
Area of Science:
- Cardiovascular Research
- Genetics and Epigenetics
- Public Health
Background:
- Conotruncal congenital heart defects (CTD) are a subset of congenital heart diseases (CHD) involving cardiac outflow tract anomalies.
- CHD arises from multifactorial inheritance, genetic/chromosomal changes, and increasingly recognized epigenetic alterations.
- Epigenetic modifications influence gene function due to environmental/behavioral factors, indirectly causing CHD by altering DNA.
Purpose of the Study:
- To systematically review and meta-analyze the association between epigenetic changes and CTD types.
- To explore potential variations in this association across different racial groups.
- To compare gene expression changes associated with specific epigenetic mutations in CTD.
Main Methods:
- Protocol adheres to Preferred Reporting Items for Systematic Reviews and Meta-Analyses Protocol (PRISMA-P) guidelines.
- Comprehensive literature search planned across seven major biomedical databases (PubMed, Embase, Scopus, Web of Science, Cochrane Library, CIANHL, PsycInfo) in June 2023.
- Data extraction will include study characteristics, sample sizes, epigenetic changes, CTD types, and measures of association; risk of bias assessed using NHLBI Quality Assessment Tool.
Main Results:
- This section is not applicable as this is a protocol for a systematic review and meta-analysis.
- The study aims to identify and quantify associations between epigenetic factors and CTD, and compare gene expression profiles.
- Results will be synthesized to explore racial disparities and identify key epigenetic modifications implicated in CTD.
Conclusions:
- This protocol outlines the first systematic review and meta-analysis on the epigenetics of CTD.
- Findings will elucidate the role of epigenetics in CHD etiology and highlight population-specific risk factors.
- Results are expected to contribute to developing effective, tailored prevention programs for congenital heart disease.
Background:
Conotruncal congenital heart defects (CTD) are a subset of congenital heart diseases (CHD) that involve structural anomalies of the right, left, or both cardiac outflow tracts. CHD is caused by multifactorial inheritance and changes in the genes or chromosomes. Recently, CHD was found to be due to epigenetic alterations, which are a combination of genetic and other environmental factors. Epigenetics is the study of how a gene's function changes as a result of environmental and behavioral influences. These causative factors can indirectly cause CHD by altering the DNA through epigenetic modifications. This is a protocol for a systematic review and meta-analysis that aims to explore whether the strength of association between various epigenetic changes and CTD types varies by race. Furthermore, to determine and compare the changes in gene expression of each mutation.
Methods:
Our protocol follows the Preferred Reporting Items for Systematic Reviews and Meta-Analyses Protocol (PRISMA-P) guidelines. A comprehensive pre-search has been developed in PubMed and PubMed's Medical Subject Headings (MeSH). The final search will be performed in June 2023 in PubMed, Embase, Scopus, Web of Science, Cochrane Library, CIANHL, and PsycInfo, without restrictions on publication years. The Covidence systematic review software will be used for blinded screening and selection. Conflicts will be resolved by a third, independent reviewer. The risk of bias in selected studies will be assessed using the National Heart, Lung, and Blood Institute (NHLBI) Quality Assessment Tool for Observational Cohort and Cross-Sectional Studies. The data to be extracted will cover basic information on the included studies, study sample size, number of patients with various types of epigenetic changes, number of patients with various CTD types, measures of association and their 95% confidence interval between each epigenetic change and each CTD. The protocol has been registered with the International Prospero Register of Systematic Review (PROSPERO) [CRD42023377597].
Discussion:
To the best of our knowledge, this protocol outlines the first systematic review and meta-analysis of the epigenetics of CTD. There is a growing body of evidence on epigenetics and its indirect involvement in disease by altering the DNA through epigenetic modifications in the genes associated with the causative factors for CHD. We will conduct a comprehensive and systematic search for literature in the above-mentioned seven core biomedical databases. It is very important to identify population-specific risk factors for CHD, which will have significant creative, custom-made, and effective prevention programs for the future generation.
