Abstract
Background: Congenital heart disease (CHD) is the most common serious congenital disorder. CHD is the leading cause of death in the first year of life. One of the factors influencing the incidence of CHD is collagen structural abnormalities such as connective tissue dysplasia (CTD). Aim: To study the prevalence of CHD and its subtypes, to determine the combination of CHD and CTD with minor cardiac abnormalities (MCA). Methods: A retrospective study on the prevalence of CHD in the Republic of Kazakhstan and Semey city and a case-control study in the pediatric clinic of the Medical University Hospital was conducted. With CHD, CTD, and healthy children were included in the study. Children of all groups were examined according to the methodology, which included a collection of medical and family history; clinical examination; assessment of CHD severity. The collected data were then analyzed using SPSS software. Results: The prevalence of CHD in Semey was 6.9 per 1,000 live births. Atrial septal defect and ventricular septal defect were the most common CHD subtypes. The phenotype was represented by the asthenic physique, joint hypermobility, ear anomalies, and scoliosis. MCAs were in children with CHD and CTD. Mitral valve prolapse and left ventricular false tendons were detected most frequently. Conclusion: MCAs detected in children with CTD. CTD is a factor influencing the severity of CHD.