Salzillo Cecilia, La Verde Marco, Imparato Amalia, Molitierno Rossella, Lucà Stefano, Pagliuca Francesca, Marzullo Andrea
PhD Course in Public Health, Department of Experimental Medicine, University of Campania "Luigi Vanvitelli", 80138 Naples, Italy.
Pathology Unit, Department of Precision and Regenerative Medicine and Ionian Area, University of Bari "Aldo Moro", 70121 Bari, Italy.
Medicina (Kaunas). 2024 Dec 1;60(12):1976. doi: 10.3390/medicina60121976.
Chromosomal abnormalities (CAs) are changes in the number or structure of chromosomes, manifested as alterations in the total number of chromosomes or as structural abnormalities involving the loss, duplication, or rearrangement of chromosomal segments. CAs can be inherited or can occur spontaneously, leading to congenital malformations and genetic diseases. CAs associated with cardiovascular diseases cause structural or functional alterations of the heart, affecting the cardiac chambers, valves, coronary arteries, aorta, and cardiac conduction, thus increasing the likelihood of arrhythmias, cardiac arrest, and sudden cardiac death (SCD). An early diagnosis and the adequate management of chromosomal abnormalities associated with cardiovascular diseases are essential to prevent SCD, which is a serious public health problem today. In our review, we analyzed the structural and functional CAs responsible for congenital heart disease (CHD) that increase the risk of SCD and analyzed the prevention strategies to be implemented to reduce SCD.
染色体异常（CAs）是指染色体数量或结构的改变，表现为染色体总数的改变或涉及染色体片段缺失、重复或重排的结构异常。染色体异常可遗传或自发发生，导致先天性畸形和遗传疾病。与心血管疾病相关的染色体异常会引起心脏的结构或功能改变，影响心腔、瓣膜、冠状动脉、主动脉和心脏传导，从而增加心律失常、心脏骤停和心源性猝死（SCD）的可能性。早期诊断和妥善处理与心血管疾病相关的染色体异常对于预防SCD至关重要，而SCD是当今一个严重的公共卫生问题。在我们的综述中，我们分析了导致先天性心脏病（CHD）并增加SCD风险的结构和功能染色体异常，并分析了为降低SCD而应实施的预防策略。
