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  • Review Article
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Reproductive options and genetic testing for patients with an inherited cardiac disease

Nature Reviews Cardiology volume 22, pages 199–211 (2025)Cite this article

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Abstract

In 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. 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. 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. 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

  • 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.

  • 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.

  • 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.

  • 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.

  • 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.

  • 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.

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

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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.

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References

  1. Arbelo, E. et al. 2023 ESC guidelines for the management of cardiomyopathies. Eur. Heart J. 44, 3503–3626 (2023).

    Article  CAS  PubMed  Google Scholar 

  2. McDonagh, T. A. et al. 2021 ESC guidelines for the diagnosis and treatment of acute and chronic heart failure. Eur. Heart J. 42, 3599–3726 (2021).

    Article  CAS  PubMed  Google Scholar 

  3. Ommen, S. R. et al. 2020 AHA/ACC guideline for the diagnosis and treatment of patients with hypertrophic cardiomyopathy: a report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines. Circulation 142, e558–e631 (2020).

    PubMed  Google Scholar 

  4. Wilde, A. A. M. et al. European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) expert consensus statement on the state of genetic testing for cardiac diseases. Europace 24, 1307–1367 (2022).

    Article  PubMed  PubMed Central  Google Scholar 

  5. Paul, R. A. et al. Preimplantation genetic testing for adult-onset neurodegenerative disease: considerations for access, utilization, and counseling. Neurology 101, 836–841 (2023).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  6. Thompson, W. S. et al. State of the science and ethical considerations for preimplantation genetic testing for monogenic cystic kidney diseases and ciliopathies. J. Am. Soc. Nephrol. 35, 235–248 (2023).

    Article  PubMed  PubMed Central  Google Scholar 

  7. Albujja, M. H., Al-Ghedan, M., Dakshnamoorthy, L. & Pla Victori, J. Preimplantation genetic testing for embryos predisposed to hereditary cancer: possibilities and challenges. Cancer Pathog. Ther. 2, 1–14 (2024).

    Article  PubMed  Google Scholar 

  8. Musunuru, K. et al. Genetic testing for inherited cardiovascular diseases: a scientific statement from the American Heart Association. Circ. Genom. Precis. Med. 13, e000067 (2020).

    Article  PubMed  Google Scholar 

  9. Landstrom, A. P. et al. Genetic testing for heritable cardiovascular diseases in pediatric patients: a scientific statement from the American Heart Association. Circ. Genom. Precis. Med. 14, e000086 (2021).

    Article  PubMed  PubMed Central  Google Scholar 

  10. Jordan, E. et al. Evidence-based assessment of genes in dilated cardiomyopathy. Circulation 144, 7–19 (2021).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  11. Ingles, J. et al. Evaluating the clinical validity of hypertrophic cardiomyopathy genes. Circ. Genom. Precis. Med. 12, e002460 (2019).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  12. Adler, A. et al. An international, multicentered, evidence-based reappraisal of genes reported to cause congenital long QT syndrome. Circulation 141, 418–428 (2020).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  13. Hosseini, S. M. et al. Reappraisal of reported genes for sudden arrhythmic death: evidence-based evaluation of gene validity for Brugada syndrome. Circulation 138, 1195–1205 (2018).

    Article  PubMed  PubMed Central  Google Scholar 

  14. Escobar-Lopez, L. et al. Association of genetic variants with outcomes in patients with nonischemic dilated cardiomyopathy. J. Am. Coll. Cardiol. 78, 1682–1699 (2021).

    Article  CAS  PubMed  Google Scholar 

  15. Walsh, R., Tadros, R. & Bezzina, C. R. When genetic burden reaches threshold. Eur. Heart J. 41, 3849–3855 (2020).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  16. Koch, S., Schmidtke, J., Krawczak, M. & Caliebe, A. Clinical utility of polygenic risk scores: a critical 2023 appraisal. J. Community Genet. 14, 471–487 (2023).

    Article  PubMed  PubMed Central  Google Scholar 

  17. NHS England Clinical Reference Group for Medical Genetics. Clinical Commissioning Policy: Pre-implantation Genetic Diagnosis (PGD). NHS England. https://www.england.nhs.uk/wp-content/uploads/2014/04/e01-med-gen-0414.pdf (2014).

  18. Latham, K. E. Preimplantation embryo gene expression: 56 years of discovery, and counting. Mol. Reprod. Dev. 90, 169–200 (2023).

    Article  CAS  PubMed  Google Scholar 

  19. Practice Committee and Genetic Counseling Professional Group of the American Society for Reproductive Medicine and American Society for Reproductive Medicine. Indications and management of preimplantation genetic testing for monogenic conditions: a committee opinion. Fertil. Steril. 120, 61–71 (2023).

    Article  Google Scholar 

  20. Kuliev, A., Pomerantseva, E., Polling, D., Verlinsky, O. & Rechitsky, S. PGD for inherited cardiac diseases. Reprod. Biomed. Online 24, 443–453 (2012).

    Article  PubMed  Google Scholar 

  21. Carvalho, F. et al. ESHRE PGT Consortium good practice recommendations for the detection of monogenic disorders. Hum. Reprod. Open 2020, hoaa018 (2020).

    Article  PubMed  PubMed Central  Google Scholar 

  22. van Dijk, W. et al. Embryo tracking system for high-throughput sequencing-based preimplantation genetic testing. Hum. Reprod. 37, 2700–2708 (2022).

    Article  PubMed  PubMed Central  Google Scholar 

  23. Giuliano, R., Maione, A., Vallefuoco, A., Sorrentino, U. & Zuccarello, D. Preimplantation genetic testing for genetic diseases: limits and review of current literature. Genes 14, 2095 (2023).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  24. Backenroth, D. et al. Haploseek: a 24-hour all-in-one method for preimplantation genetic diagnosis (PGD) of monogenic disease and aneuploidy. Genet. Med. 21, 1390–1399 (2019).

    Article  CAS  PubMed  Google Scholar 

  25. Natesan, S. A. et al. Genome-wide karyomapping accurately identifies the inheritance of single-gene defects in human preimplantation embryos in vitro. Genet. Med. 16, 838–845 (2014).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  26. Handyside, A. H. et al. Karyomapping: a universal method for genome wide analysis of genetic disease based on mapping crossovers between parental haplotypes. J. Med. Genet. 47, 651–658 (2010).

    Article  PubMed  Google Scholar 

  27. Zamani Esteki, M. et al. Concurrent whole-genome haplotyping and copy-number profiling of single cells. Am. J. Hum. Genet. 96, 894–912 (2015).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  28. Janssen, A. E. J. et al. Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing. Nat. Commun. 15, 7164 (2024).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  29. van der Schoot, V. et al. Preimplantation genetic testing for more than one genetic condition: clinical and ethical considerations and dilemmas. Hum. Reprod. 34, 1146–1154 (2019).

    Article  PubMed  Google Scholar 

  30. Verdonschot, J. A. J. et al. Clinical guideline for preimplantation genetic testing in inherited cardiac diseases. Circ. Genom. Precis. Med. 17, e004416 (2024).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  31. Charron, P. et al. Genetic counselling and testing in cardiomyopathies: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur. Heart J. 31, 2715–2726 (2010).

    Article  PubMed  Google Scholar 

  32. Hershberger, R. E. et al. Genetic evaluation of cardiomyopathy — a Heart Failure Society of America Practice Guideline. J. Card. Fail. 24, 281–302 (2018).

    Article  PubMed  PubMed Central  Google Scholar 

  33. Ackerman, M. J. et al. HRS/EHRA Expert Consensus Statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). Europace 13, 1077–1109 (2011).

    Article  PubMed  Google Scholar 

  34. Ahmad, F. et al. Establishment of specialized clinical cardiovascular genetics programs: recognizing the need and meeting standards: a scientific statement from the American Heart Association. Circ. Genom. Precis. Med. 12, e000054 (2019).

    Article  PubMed  Google Scholar 

  35. Bedrick, B. S. et al. State-mandated insurance coverage and preimplantation genetic testing in the United States. Obstet. Gynecol. 139, 500–508 (2022).

    PubMed  Google Scholar 

  36. Bedrick, B. S., Anderson, K., Broughton, D. E., Hamilton, B. & Jungheim, E. S. Factors associated with early in vitro fertilization treatment discontinuation. Fertil. Steril. 112, 105–111 (2019).

    Article  PubMed  PubMed Central  Google Scholar 

  37. Jain, T., Harlow, B. L. & Hornstein, M. D. Insurance coverage and outcomes of in vitro fertilization. N. Engl. J. Med. 347, 661–666 (2002).

    Article  PubMed  Google Scholar 

  38. Chin, A. H. B. & Sun, N. Sociocultural imperatives for Singapore to permit preimplantation genetic testing-aneuploidy (PGT-A) despite uncertain results and ongoing controversy. J. Assist. Reprod. Genet. 40, 1377–1379 (2023).

    Article  PubMed  PubMed Central  Google Scholar 

  39. Di Gioacchino, V., Langlois, S. & Elliott, A. M. Canadian genetic healthcare professionals’ attitudes towards discussing private pay options with patients. Mol. Genet. Genom. Med. 7, e00572 (2019).

    Article  Google Scholar 

  40. Drazba, K. T., Kelley, M. A. & Hershberger, P. E. A qualitative inquiry of the financial concerns of couples opting to use preimplantation genetic diagnosis to prevent the transmission of known genetic disorders. J. Genet. Couns. 23, 202–211 (2014).

    Article  PubMed  Google Scholar 

  41. Ethics Committee of the American Society for Reproductive Medicine. Use of reproductive technology for sex selection for nonmedical reasons: an ethics committee opinion. Fertil. Steril. 117, 720–726 (2022).

    Article  Google Scholar 

  42. Kushnir, V. A., Adashi, E. Y. & Cohen, I. G. Preimplantation sex selection via in vitro fertilization: time for a reappraisal. F. S. Rep. 4, 241–243 (2023).

    PubMed  PubMed Central  Google Scholar 

  43. Nakasato, K., Yamamoto, B. A. & Kato, K. Evaluating standards for ‘serious’ disease for preimplantation genetic testing: a multi-case study on regulatory frameworks in Japan, the UK, and Western Australia. Hum. Genomics 16, 16 (2022).

    Article  PubMed  PubMed Central  Google Scholar 

  44. Tehsin, F. et al. Preimplantation genetic testing: a perceptual study from the Eastern Province, Saudi Arabia. Cureus 13, e20421 (2021).

    PubMed  PubMed Central  Google Scholar 

  45. Lammens, C. et al. Attitude towards pre-implantation genetic diagnosis for hereditary cancer. Fam. Cancer 8, 457–464 (2009).

    Article  PubMed  PubMed Central  Google Scholar 

  46. Gietel-Habets, J. J. et al. Awareness and attitude regarding reproductive options of persons carrying a BRCA mutation and their partners. Hum. Reprod. 32, 588–597 (2017).

    CAS  PubMed  Google Scholar 

  47. Greenfield, A. Making sense of heritable human genome editing: scientific and ethical considerations. Prog. Mol. Biol. Transl. Sci. 182, 1–28 (2021).

    Article  CAS  PubMed  Google Scholar 

  48. Ranisch, R. Germline genome editing versus preimplantation genetic diagnosis: is there a case in favour of germline interventions? Bioethics 34, 60–69 (2020).

    Article  PubMed  Google Scholar 

  49. van Dijke, I. et al. Should germline genome editing be allowed? The effect of treatment characteristics on public acceptability. Hum. Reprod. 36, 465–478 (2021).

    Article  PubMed  Google Scholar 

  50. van Dijke, I. et al. How will new genetic technologies, such as gene editing, change reproductive decision-making? Views of high-risk couples. Eur. J. Hum. Genet. 29, 39–50 (2021).

    Article  PubMed  Google Scholar 

  51. Landry, L. G. & Rehm, H. L. Association of racial/ethnic categories with the ability of genetic tests to detect a cause of cardiomyopathy. JAMA Cardiol. 3, 341–345 (2018).

    Article  PubMed  PubMed Central  Google Scholar 

  52. Butters, A. et al. Clinical profile and health disparities in a multiethnic cohort of patients with hypertrophic cardiomyopathy. Circ. Heart Fail. 14, e007537 (2021).

    Article  CAS  PubMed  Google Scholar 

  53. Manrai, A. K. et al. Genetic misdiagnoses and the potential for health disparities. N. Engl. J. Med. 375, 655–665 (2016).

    Article  PubMed  PubMed Central  Google Scholar 

  54. Peterson, R. E. et al. Genome-wide association studies in ancestrally diverse populations: opportunities, methods, pitfalls, and recommendations. Cell 179, 589–603 (2019).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  55. Gudmundsson, S. et al. Variant interpretation using population databases: lessons from gnomAD. Hum. Mutat. 43, 1012–1030 (2022).

    Article  PubMed  Google Scholar 

  56. Butters, A. et al. A rare splice-site variant in cardiac troponin-T (TNNT2): the need for ancestral diversity in genomic reference datasets. Heart Lung Circ. 33, S99 (2024).

    Article  Google Scholar 

  57. Ingles, J. & MacArthur, D. G. The moral and practical urgency of increasing diversity in genomics. Eur. Heart J. 44, 5157–5159 (2023).

    Article  PubMed  Google Scholar 

  58. Ingles, J. Psychological issues in managing families with inherited cardiovascular diseases. Cold Spring Harb. Perspect. Med. 10, a036558 (2020).

    Article  PubMed  PubMed Central  Google Scholar 

  59. Aatre, R. D. & Day, S. M. Psychological issues in genetic testing for inherited cardiovascular diseases. Circ. Cardiovasc. Genet. 4, 81–90 (2011).

    Article  PubMed  Google Scholar 

  60. Hughes, T. et al. A review on the motivations, decision-making factors, attitudes and experiences of couples using pre-implantation genetic testing for inherited conditions. Hum. Reprod. Update 27, 944–966 (2021).

    Article  CAS  PubMed  Google Scholar 

  61. Dennison Himmelfarb, C. R. et al. Shared decision-making and cardiovascular health: a scientific statement from the American Heart Association. Circulation 148, 912–931 (2023).

    Article  PubMed  Google Scholar 

  62. Severijns, Y. et al. The effects of an online decision aid to support the reproductive decision-making process of genetically at risk couples — a pilot study. J. Genet. Couns. 32, 153–165 (2023).

    Article  PubMed  Google Scholar 

  63. Yeates, L. et al. Decision-making and experiences of preimplantation genetic diagnosis in inherited heart diseases: a qualitative study. Eur. J. Hum. Genet. 30, 187–193 (2022).

    Article  PubMed  Google Scholar 

  64. Ingles, J. et al. Posttraumatic stress and prolonged grief after the sudden cardiac death of a young relative. JAMA Intern. Med. 176, 402–405 (2016).

    Article  PubMed  Google Scholar 

  65. Patton, K., Wong, E. K., Cirino, A. L., Dobson, L. J. & Harris, S. Reproductive decision-making and the utilization of preimplantation genetic testing among individuals with inherited aortic or vascular disease. J. Genet. Couns. 33, 592–604 (2023).

    Article  PubMed  Google Scholar 

  66. Wilton, L., Thornhill, A., Traeger-Synodinos, J., Sermon, K. D. & Harper, J. C. The causes of misdiagnosis and adverse outcomes in PGD. Hum. Reprod. 24, 1221–1228 (2009).

    Article  CAS  PubMed  Google Scholar 

  67. Harper, J. C. et al. ESHRE PGD Consortium Data Collection VII: cycles from January to December 2004 with pregnancy follow-up to October 2005. Hum. Reprod. 23, 741–755 (2008).

    Article  CAS  PubMed  Google Scholar 

  68. Hardy, T. The role of prenatal diagnosis following preimplantation genetic testing for single-gene conditions: a historical overview of evolving technologies and clinical practice. Prenat. Diagn. 40, 647–651 (2020).

    Article  PubMed  Google Scholar 

  69. Ware, J. S. & Cook, S. A. Role of titin in cardiomyopathy: from DNA variants to patient stratification. Nat. Rev. Cardiol. 15, 241–252 (2018).

    Article  CAS  PubMed  Google Scholar 

  70. Pirruccello, J. P. et al. Analysis of cardiac magnetic resonance imaging in 36,000 individuals yields genetic insights into dilated cardiomyopathy. Nat. Commun. 11, 2254 (2020).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  71. Yun, H., Noh, N. I. & Lee, E. Y. Genetic risk scores used in cardiovascular disease prediction models: a systematic review. Rev. Cardiovasc. Med. 23, 8 (2022).

    Article  PubMed  Google Scholar 

  72. Siermann, M. et al. Limitations, concerns and potential: attitudes of healthcare professionals toward preimplantation genetic testing using polygenic risk scores. Eur. J. Hum. Genet. 31, 1133–1138 (2023).

    Article  PubMed  PubMed Central  Google Scholar 

  73. Johnston, J. & Matthews, L. J. Polygenic embryo testing: understated ethics, unclear utility. Nat. Med. 28, 446–448 (2022).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  74. Matthews, L. J. Half a century later and we’re back where we started: how the problem of locality turned in to the problem of portability. Stud. Hist. Philos. Sci. 91, 1–9 (2022).

    Article  PubMed  Google Scholar 

  75. Martin, A. R. et al. Clinical use of current polygenic risk scores may exacerbate health disparities. Nat. Genet. 51, 584–591 (2019).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  76. Mostafavi, H. et al. Variable prediction accuracy of polygenic scores within an ancestry group. eLife 9, e48376 (2020).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

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Acknowledgements

J.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. 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).

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Authors and Affiliations

  1. Department of Clinical Genetics, Maastricht University Medical Centre+, Maastricht, The Netherlands

    Job A. J. Verdonschot, Aimee D. C. Paulussen & Christine E. M. de Die-Smulders

  2. Department of Cardiology, Cardiovascular Research Institute Maastricht, Maastricht, The Netherlands

    Job A. J. Verdonschot

  3. European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), Maastricht, The Netherlands

    Job A. J. Verdonschot

  4. GROW School for Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands

    Aimee D. C. Paulussen & Christine E. M. de Die-Smulders

  5. Cardiovascular Medicine, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA, USA

    Neal K. Lakdawala

  6. National Heart and Lung Institute & MRC Laboratory of Medical Sciences, Imperial College London, London, UK

    James S. Ware

  7. Royal Brompton and Harefield Hospitals, Guy’s and St Thomas’ NHS Foundation Trust, London, UK

    James S. Ware

  8. Imperial College Healthcare NHS Trust, London, UK

    James S. Ware

  9. Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, New South Wales, Australia

    Jodie Ingles

  10. UNSW Sydney, Sydney, New South Wales, Australia

    Jodie Ingles

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J.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.

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Correspondence to Job A. J. Verdonschot.

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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.

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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.

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Verdonschot, J.A.J., Paulussen, A.D.C., Lakdawala, N.K. et al. Reproductive options and genetic testing for patients with an inherited cardiac disease. Nat Rev Cardiol 22, 199–211 (2025). https://doi.org/10.1038/s41569-024-01073-3

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