Tóm tắt Luận án Tiến sĩ: Đặc điểm giải phẫu bệnh của tim và một số biến thể gen SCN5A ở người trẻ tuổi chết đột ngột do tim

Sudden Cardiac Death (SCD) in young individuals poses a significant diagnostic challenge, particularly in contexts where comprehensive forensic and genetic investigations are limited. While anatomical pathologies like myocardial hypertrophy and fibrosis are recognized contributors, emerging evidence highlights the crucial role of genetic predispositions, such as variants in genes like SCN5A. In Vietnam, there is a recognized scarcity of integrated studies combining detailed cardiac anatomopathological examination with advanced genetic analysis to elucidate the underlying causes of SCD in this vulnerable population. This research addresses this critical gap by investigating both the structural heart abnormalities and specific gene variants in young victims of SCD, aiming to enhance diagnostic accuracy and inform preventive strategies.

Đối tượng độc giả chính bao gồm các nhà khoa học, bác sĩ pháp y, nhà bệnh học giải phẫu, bác sĩ tim mạch, nhà di truyền học, và các nhà nghiên cứu y học quan tâm đến cơ chế bệnh sinh và chẩn đoán tử vong đột ngột do tim ở người trẻ.

This doctoral thesis comprehensively investigates Sudden Cardiac Death (SCD) in young individuals in Vietnam, a demographic often understudied regarding the complex interplay of cardiac pathology and genetic factors. Utilizing a robust methodology, the study analyzed 206 SCD cases (aged 1-40) from multiple forensic centers, employing a descriptive cross-sectional design with both retrospective and prospective elements. A key innovative approach was the integration of detailed cardiac anatomopathological examinations with advanced molecular biology techniques, specifically Next-Generation Sequencing (NGS) complemented by Sanger sequencing, to accurately identify gene variants. The research made significant contributions by being the first in Vietnam to systematically describe the morphological lesions of the heart and to meticulously identify associated genetic variants in this cohort. Out of 52 subjects undergoing genetic testing, 20 (38.5%) carried gene variants, and notably, 13 (25%) harbored pathogenic variants. The study identified 25 variants across 20 genes from a panel of 166 genes, including 12 previously unreported variants, thereby enriching international gene databases. These findings not only provide crucial scientific grounds for forensic medical examinations, particularly in cases of sudden unexplained death, but also underscore the importance of genetic screening. By linking specific anatomopathological features with identified pathogenic gene variants, this work significantly advances the understanding of SCD etiology in young Vietnamese, paving the way for improved diagnostic protocols, risk stratification, and the development of targeted prevention and treatment strategies.