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Sudden infant death syndrome and inherited cardiac conditions
Nature Reviews Cardiology ( IF 41.7 ) Pub Date : 2017-09-07 , DOI: 10.1038/nrcardio.2017.129
Alban-Elouen Baruteau 1, 2 , David J Tester 3, 4 , Jamie D Kapplinger 3 , Michael J Ackerman 3, 4 , Elijah R Behr 1
Affiliation  

Sudden infant death syndrome (SIDS) is the leading cause of post-neonatal infant mortality in developed countries, characterized by the death of infants for no obvious reason and without prior warning. The complex interaction of multiple factors in the pathogenesis of SIDS is illustrated by the 'triple risk hypothesis', which proposed that SIDS results from a convergence of three overlapping risk factors: a critical developmental period, an exogenous stressor, and underlying genetic and/or nongenetic vulnerability in the infant. Rare variants in genes associated with inherited arrhythmia syndromes and cardiomyopathies have been proposed as the substrate for an infant's critical vulnerability in a small subset of SIDS cases. Given the potential risk of inherited cardiac disease, current guidelines recommend post-mortem genetic testing (molecular autopsy) and cardiological investigation of the surviving family, complemented by targeted genetic testing if appropriate. In this Review, we highlight the latest developments in understanding the spectrum and prevalence of cardiac-mediated SIDS, and discuss the clinical implications of SIDS in the surviving family and the general population.



中文翻译:

婴儿猝死综合症和遗传性心脏病

婴儿猝死综合征(SIDS)是发达国家新生儿后婴儿死亡的主要原因,其特点是婴儿在没有明显原因和事先警告的情况下死亡。“三重风险假说”说明了 SIDS 发病机制中多种因素的复杂相互作用,该假说提出 SIDS 是由三个重叠的风险因素共同引起的:关键发育期、外源性压力源以及潜在的遗传和/或婴儿的非遗传易感性。与遗传性心律失常综合征和心肌病相关的基因的罕见变异已被提议作为婴儿在一小部分 SIDS 病例中的严重脆弱性的底物。鉴于遗传性心脏病的潜在风险,目前的指南建议对幸存的家庭进行死后基因检测(分子尸检)和心脏病学调查,并在适当的情况下辅以有针对性的基因检测。在这篇综述中,我们重点介绍了了解心脏介导的 SIDS 的谱系和患病率方面的最新进展,并讨论了 SIDS 在幸存家庭和普通人群中的临床意义。

更新日期:2017-09-07
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