Inherited cardiovascular diseases cover the inherited cardiovascular disease familial hypercholesterolemia and inherited cardiac diseases, like inherited cardiomyopathies and inherited arrhythmia syndromes. Cascade genetic counseling and testing in inherited cardiovascular diseases have had three decades of academic attention. Inherited cardiovascular diseases affect around 1–2% of the population worldwide and cascade genetic counseling and testing are considered valuable since preventive measures and/or treatments are available. Cascade genetic counseling via a family-mediated approach leads to an uptake of genetic counseling and testing among at-risk relatives of around 40% one year after identification of the causal variant in the proband, with uptake remaining far from complete on the long-term. These findings align with uptake rates among relatives at-risk for other late onset medically actionable hereditary diseases, like hereditary cancer syndromes. Previous interventions to increase uptake have focused on optimizing the process of informing relatives through the proband and on contacting relatives directly. However, despite successful information dissemination to at-risk relatives, these approaches had little or no effect on uptake. The limited research into the barriers that impede at-risk relatives from seeking counseling has revealed knowledge, attitudinal, social and practical barriers but it remains unknown how these factors contribute to the decision-making process for seeking counseling in at-risk relatives. A significant effect on uptake of genetic testing has only been reached in the setting of familial hypercholesterolemia, where active information provision was accompanied by a reduction of health-system-related barriers. We propose that more research is needed on barriers -including health-system-related barriers- and how they hinder counseling and testing in at-risk relatives, so that uptake can be optimized by (adjusted) interventions.

遗传性心血管疾病包括遗传性心血管疾病家族性高胆固醇血症和遗传性心脏病，如遗传性心肌病和遗传性心律失常综合征。遗传性心血管疾病的级联遗传咨询和检测已经引起了学术界三十年的关注。遗传性心血管疾病影响全世界约 1-2% 的人口，由于可以采取预防措施和/或治疗，因此级联遗传咨询和检测被认为是有价值的。通过家庭介导的方法进行级联遗传咨询，在先证者中发现致病变异一年后，大约 40% 的高危亲属接受了遗传咨询和检测，但从长远来看，这种接受还远未完成。 。这些发现与其他晚发性可通过药物治疗的遗传性疾病（如遗传性癌症综合征）风险的亲属的患病率一致。之前提高吸收率的干预措施主要集中在优化通过先证者通知亲属的流程以及直接联系亲属。然而，尽管成功地向高危亲属传播了信息，但这些方法对吸收的影响很小或根本没有影响。对阻碍高危亲属寻求咨询的障碍的有限研究揭示了知识、态度、社会和实践障碍，但仍不清楚这些因素如何影响高危亲属寻求咨询的决策过程。只有在家族性高胆固醇血症的情况下才对基因检测的采用产生显着影响，在这种情况下，积极提供信息的同时也减少了卫生系统相关的障碍。我们建议需要对障碍（包括与卫生系统相关的障碍）以及它们如何阻碍高危亲属的咨询和检测进行更多研究，以便可以通过（调整后的）干预措施来优化吸收。