Kääb Stefan
Medizinische Klinik und Poliklinik I, Ludwig-Maximilians University Clinic, Munich, Germany; DZHK (German Center for Cardiovascular Research), partner site Munich Heart Alliance, Munich, Germany.
Int J Cardiol. 2017 Jun 15;237:42-44. doi: 10.1016/j.ijcard.2017.03.130.
Despite a positive family history of SCD being associated with increased risk for SCD in the offspring, the genetic contribution to SCD in general and in proportion to the population at risk is considered to be small. The majority of SCD is rated a common disease with multi allelic susceptibility markers of minor effect size each. A smaller proportion of obvious familial forms of early onset SCD, or SCD in the young on the other hand is clearly linked to genetics. Here frequently, rare genetic variants with strong effects carry the major risk for SCD. Considering the genetic contribution to SCD it is imperative to specifically define the sub-phenotypes of SCD. Genomic approaches and novel sequencing technologies will allow enhancing our knowledge on the pathophysiology of arrhythmogenesis resulting in SCD. While the group of SCD in the young may account only for a smaller portion of all adult SCD, public awareness, specialized multidisciplinary centers for SCD and potentially regulations are needed to fully gain the benefit of genetic testing followed by family screening and simple but effective preventive measures that are well suited to reduce the burden of SCD in the young in the future.
尽管镰状细胞病(SCD)的家族史阳性与后代患SCD的风险增加相关,但一般而言,遗传因素对SCD的影响以及在高危人群中的占比被认为较小。大多数SCD被归类为常见疾病,每种疾病都有多个效应大小较小的等位基因易感性标记。另一方面,较小比例的明显家族性早发性SCD或年轻人中的SCD则与遗传学有明确关联。在此类情况中,通常是具有强效应的罕见遗传变异携带了SCD的主要风险。考虑到遗传因素对SCD的影响,明确SCD的亚表型至关重要。基因组学方法和新型测序技术将有助于增进我们对导致SCD的心律失常发生病理生理学的了解。虽然年轻人群中的SCD可能仅占所有成人SCD的较小部分,但仍需要提高公众意识、设立专门的SCD多学科中心以及可能的相关规定,以便充分利用基因检测的优势,随后进行家族筛查,并采取简单而有效的预防措施,这些措施非常适合未来减轻年轻人中SCD的负担。