Abstract
BACKGROUND: Congenital heart disease (CHD) remains a leading contributor to congenital anomalies globally. In Malaysia, available data on CHD are limited, with birth prevalence estimates varying widely across studies, suggesting potential underestimation and gaps in understanding CHD prevalence. This systematic review and meta-analysis aimed to assess the reported prevalence and subtypes of CHD in Malaysia. METHODS: This study was conducted according to PRISMA guidelines and registered with PROSPERO (CRD42024500619). Studies from the Malaysian population published from inception till October 2024 were searched in Google Scholar, PubMed, EMBASE, and Web of Science. RESULTS: A total of 303 were identified and 7 studies met the inclusion criteria. Data on total CHD prevalence and 36 specific subtypes were collected and pooled using an inverse variance random-effect model. Among the 7 eligible studies, encompassing 1,474,172 live births, the pooled CHD prevalence was 4.21 per 1,000 live births (95% confidence interval [CI] [2.21–6.22]; P < 0.0001), with significant heterogeneity (I(2) = 99%). The reported prevalence exhibited markedly variation, declining from 6.80 per live births (95%CI [5.19–8.41]) in 1963 to 1.35 per 1,000 live births (95%CI [0.96–1.74]) in 1999, before rising again to 6.80 per 1,000 live births (95%CI [6.63–6.97]) in 2020. Among CHD subtypes, ventricular septal defects were the most prevalent (36.23%), followed by patent ductus arteriosus (18.16%). Subgroup analyses by geographic location (states of Malaysia), publication year, and study design highlighted further variability in prevalence rates. CONCLUSIONS: The observed fluctuations in CHD prevalence underscore the necessity for robust surveillance systems and investigation into the factors driving these trends in Malaysia. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12889-025-23800-2.