ATRIOVENTRICULAR SEPTAL DEFECT: ETIOLOGY, PATHOGENESIS, CLASSIFICATION, MODERN DIAGNOSTIC METHODS, AND SURGICAL CORRECTION. LITERATURE REVIEW

Abstract

Atrioventricular septal defect (AVSD) is a complex congenital heart defect characterized by abnormal endocardial cushion formation, leading to atrial and ventricular septal defects and atrioventricular valve anomalies. AVSD accounts for approximately 7% of all congenital heart defects and is frequently associated with Down syndrome. Without surgical intervention, patients with complete AVSD are at high risk of developing pulmonary hypertension and heart failure. Modern imaging techniques allow for precise anatomical assessment and optimization of surgical treatment. This study aims to investigate the etiology, pathogenesis, classification, modern diagnostic methods, and surgical correction techniques for AVSD.A review of publications from electronic databases PubMed, MEDLINE, Web of Science, Google Scholar, and an electronic library was conducted using relevant keywords over the past 10 years. A total of 50 sources were included, while duplicate publications and conference abstracts were excluded. Genetic and epigenetic factors, particularly mutations affecting endocardial cushion development, play a significant role in AVSD formation. Impaired cell migration leads to various AVSD subtypes. Modern radiological diagnostic techniques enable accurate defect evaluation. Surgical correction, including the double-patch and single-patch techniques, remains the primary treatment. In complex cases, palliative surgical approaches are employed. Modern diagnostic and surgical methods significantly improve the prognosis of AVSD patients. Genetic research facilitates early detection, while advanced surgical techniques reduce the risk of complications. A comprehensive approach integrating etiological research, pathogenetic modeling, precise diagnosis, and surgical interventions is key to the effective management of AVSD.