AbstractIn the past decade, genetic testing for cardiac disease has become part of routine clinical care. A genetic diagnosis provides the possibility to clarify risk for relatives. For family planning, a genetic diagnosis provides reproductive options, including prenatal diagnosis and preimplantation genetic testing, that can prevent an affected parent from having a child with the genetic predisposition.

摘要在过去的十年中，心脏病的基因检测已成为常规临床护理的一部分。基因诊断提供了澄清亲属风险的可能性。对于计划生育，基因诊断提供了生殖选择，包括产前诊断和植入前基因检测，可以防止受影响的父母生下具有遗传易感性的孩子。

Owing to the complex genetic architecture of cardiac diseases, characterized by incomplete disease penetrance and the interplay between monogenic and polygenic variants, the risk reduction that can be achieved using reproductive genetic testing varies among individuals. Globally, disparities, including regulatory and financial barriers, in access to reproductive genetic tests exist.

由于心脏疾病的复杂遗传结构，其特征是疾病外显率不完全以及单基因和多基因变异之间的相互作用，因此使用生殖基因检测可以实现的风险降低因个体而异。。

Although reproductive options are gaining a prominent position in the management of patients with inherited cardiac diseases, specific policies and guidance are lacking. Guidelines recommend that prenatal diagnosis and preimplantation genetic testing are options that should be discussed with families.

尽管生殖选择在遗传性心脏病患者的管理中占有突出地位，但缺乏具体的政策和指导。指南建议产前诊断和植入前基因检测是应该与家庭讨论的选择。

Health-care professionals should, therefore, be aware of the possibilities and feel confident to discuss the benefits and challenges. In this Review, we provide an overview of the reproductive options in the context of inherited cardiac diseases, covering the genetic, technical, psychosocial and equity considerations, to prepare health-care professionals for discussions with their patients.Key points.

因此，医疗保健专业人员应该意识到这种可能性，并有信心讨论其益处和挑战。在这篇综述中，我们概述了遗传性心脏病背景下的生殖选择，涵盖了遗传，技术，心理社会和公平的考虑因素，为医疗保健专业人员与患者进行讨论做好准备。关键点。

A genetic aetiology of cardiac diseases is well established, although the genetic architecture is complex, including rare variants of large effect and common variants of individually smaller effect, in genes associated with cardiac disease.

心脏病的遗传病因已经确立，尽管遗传结构很复杂，包括与心脏病相关的基因中罕见的大效应变异和单个较小效应的常见变异。

When a genetic diagnosis is established in a would-be parent, a combination of in vitro fertilization, preimplantation genetic testing (PGT) and embryo selection provides an effective option to have a child who is biologically related to both parents and will not inherit the genetic risk.

当对准父母进行基因诊断时，将体外受精，植入前基因检测（PGT）和胚胎选择相结合，可以有效选择与父母双方有生物学关系且不会遗传遗传风险的孩子。

Genetic counselling, including discussion and support about reproductive (genetic testing) options, inheritance risks and familial implications, is a crucial aspect in the management of patients and their families.

遗传咨询，包括关于生殖（基因检测）选择，遗传风险和家族影响的讨论和支持，是患者及其家人管理的关键方面。

Major differences in financial coverage, logistics of health care, sociocultural backgrounds and societal views on reproductive options exist between countries, limiting universal regulation and guidelines.

各国在财政覆盖范围、医疗保健后勤、社会文化背景和社会对生殖选择的看法方面存在重大差异，限制了普遍的监管和指导方针。

The experience of the cardiac disease in the family is an important driver as to why patients opt for active management of reproductive risk (such as PGT) and can differ between patients.

家庭中心脏病的经历是患者选择积极管理生殖风险（如PGT）的重要驱动因素，并且患者之间可能有所不同。

A detailed medical and family history is necessary to determine the technical and medical possibilities of active management of reproductive risk (mainly PGT) for a patient with an inherited cardiac disease.

为了确定遗传性心脏病患者积极管理生殖风险（主要是PGT）的技术和医学可能性，有必要提供详细的病史和家族史。

PGT is a laborious process, including multiple specialties and technical challenges, that takes up to 12 months on average.

PGT是一个费力的过程，包括多个专业和技术挑战，平均需要12个月。

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Fig. 1: Complex genetic architecture of inherited cardiac diseases.Fig. 2: Technical steps and methods for genetic testing of embryos for PGT.Fig. 3: PGT trajectory of a patient with a genetic cardiac disease.

图1：遗传性心脏病的复杂遗传结构。图2:PGT胚胎基因检测的技术步骤和方法。图3：遗传性心脏病患者的PGT轨迹。

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Download referencesAcknowledgementsJ.A.J.V. is supported by funding from the Dutch Heart Foundation (Dekker Clinical Scientist grant 03-005-2022-0040) and by the Academic Funds of the Maastricht University Medical Centre+ (AF-00499). J.S.W. is supported by the Sir Jules Thorn Charitable Trust (21JTA), Medical Research Council (UK), British Heart Foundation (RE/18/4/34215) and the NIHR Imperial College Biomedical Research Centre.

下载referencesAcknowledgementsJ。A、 J.V.得到了荷兰心脏基金会（Dekker临床科学家拨款03-005-2022-0040）和马斯特里赫特大学医学中心+学术基金（AF-00499）的资助。J、 S.W.得到了朱尔斯·索恩爵士慈善信托基金（21JTA），医学研究委员会（英国），英国心脏基金会（RE/18/4/34215）和NIHR帝国理工学院生物医学研究中心的支持。

J.I. is the recipient of a National Heart Foundation of Australia Future Leader Fellowship (no. 106732). Both J.A.J.V. and J.S.W. are supported by a HORIZON European Innovation Council Grants Pathfinder call (DCM-NEXT).Author informationAuthors and AffiliationsDepartment of Clinical Genetics, Maastricht University Medical Centre+, Maastricht, The NetherlandsJob A.

J、 I.是澳大利亚国家心脏基金会未来领袖奖学金（编号106732）的获得者。J.A.J.V.和J.S.W.都得到了地平线欧洲创新委员会资助的探路者呼叫（DCM-NEXT）的支持。作者信息作者和附属机构荷兰马斯特里赫特马斯特里赫特大学医学中心+临床遗传学系。

J. Verdonschot, Aimee D. C. Paulussen & Christine E. M. de Die-SmuldersDepartment of Cardiology, Cardiovascular Research Institute Maastricht, Maastricht, The NetherlandsJob A. J. VerdonschotEuropean Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), Maastricht, The NetherlandsJob A.

J、 Verdonschot，Aimee D.C.Paulussen＆Christine E.M.de Die Smulders荷兰马斯特里赫特心血管研究所心脏病参考网络，荷兰马斯特里赫特。

J. VerdonschotGROW School for Oncology and Reproduction, Maastricht University, Maastricht, The NetherlandsAimee D. C. Paulussen & Christine E. M. de Die-SmuldersCardiovascular Medicine, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA, USANeal K. LakdawalaNational Heart and Lung Institute & MRC Laboratory of Medical Sciences, Imperial College London, London, UKJames S.

J、 马斯特里赫特大学VerdonschotGROW肿瘤与生殖学院，马斯特里赫特，荷兰Saimee D.C.Paulussen＆Christine E.M.de Die SmuldersCardiovascular Medicine，Brigham and Women's Hospital，Harvard Medical School，Boston，MA，USANAL K.LakdawalaNational Heart and Lung Institute＆MRC Laboratory of Medical Sciences，Imperial College London，London，UKJames s。

WareRoyal Brompton and Harefield Hospitals, Guy’s and St Thomas’ NHS Foundation Trust, London, UKJames S. WareImperial College Healthcare NHS Trust, London, UKJames S. WareGenomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, New Sou.

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PubMed Google ScholarContributionsJ.A.J.V., A.D.C.P. and J.I. researched data for the article, and all the authors discussed its content. J.A.J.V., A.D.C.P., C.E.M.d.D.-S. and J.I. wrote the manuscript, and all the authors reviewed/edited it before submission.Corresponding authorCorrespondence to.

PubMed谷歌学术贡献。A、 J.V.，A.D.C.P.和J.I.研究了这篇文章的数据，所有作者都讨论了它的内容。J、 。对应作者对应。

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Competing interests

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J.S.W. has consulted for Foresite Labs, Health Lumen, MyoKardia, Pfizer and Tenaya Therapeutics and receives research support from Bristol Myers Squibb. J.I. receives research grant support from Bristol Myers Squibb. The other authors declare no competing interests.

J、 S.W.曾为Foresite Labs、Health Lumen、MyoKardia、Pfizer和Tenaya Therapeutics提供咨询，并获得了百时美施贵宝的研究支持。J、 I.获得百时美施贵宝的研究资助。其他作者声明没有利益冲突。

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Nature Reviews Cardiology thanks Lidewij Henneman; Andrew Landstrom, who co-reviewed with Brittany Balint; and the other, anonymous, reviewer(s) for their contribution to the peer review of this work.

自然评论心脏病学感谢Lidewij Henneman；安德鲁·兰斯特罗姆（AndrewLandstrom）与布列塔尼·巴林特（BrittanyBalint）共同审查；另一位匿名审稿人对这项工作的同行评审做出了贡献。

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et al. Reproductive options and genetic testing for patients with an inherited cardiac disease..

遗传性心脏病患者的生殖选择和基因检测。。

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主题

CardiomyopathiesCongenital heart defectsDisease preventionGenetic testing

心肌病先天性心脏缺陷疾病预防基因检测