Abstract
随着分子遗传学机制研究的深入和基因筛查技术的发展，越来越多的遗传性心血管疾病的致病基因和变异位点被发现。心脏猝死相关的基因变异，特别是核纤层蛋白A/C、受磷蛋白、细丝蛋白-C等致病基因的基因型和表型关联分析的结果，为遗传性心血管疾病的诊断和风险评估提供了依据，已被2019、2022年国际专家共识和2021年国际指南推荐用于指导心脏植入性器械［如植入式心律转复除颤器（ICD）］的临床应用，以预防心脏猝死、改善预后、降低死亡率。.
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