ClinicalGlobal approaches to cardiogenetic evaluation after sudden cardiac death in the young: A survey among health care professionals
Introduction
Sudden cardiac death (SCD) in the young is a rare but tragic event. Postmortem pathologic examination may identify structural changes. In older patients, the majority of SCD can be attributed to coronary artery disease.1 Cardiomyopathies, potentially genetic, may be another cause of SCD identified at postmortem examination.2 However, in 30%–40% of SCD in young people (<35–40 years), no structural changes are identified.3,4 Although SCD in a young family member is devastating, not knowing the cause of death can limit clinical and genetic screening options, thus adding to the uncertainty.5
When no structural abnormalities are identified at postmortem evaluation and an underlying inherited arrhythmia syndrome is suspected, genetic testing is often performed as part of a multidisciplinary investigation of sudden unexpected death per international guidelines.6, 7, 8, 9 Postmortem genetic testing may identify an underlying inherited cardiac disease in 15%–40% of cases.3,10, 11, 12 It thereby allows for determination of the risk of family members, which ultimately can lead to prevention of morbidity and mortality. Genetic testing in combination with clinical screening of family members can increase the yield, ranging from 33%–53%.13, 14, 15 From a psychosocial perspective, identifying a cause of death can give families much needed answers.
In many countries, autopsy and/or postmortem genetic testing is not routinely performed after SCD in the young.8,16 Although national and sometimes continental regulations are in place, the rates of postmortem investigation and genetic testing, as well as the procedures for doing them, are vastly different among countries.8 These differences likely reflect various legislative requirements, cultural differences, inequities in funding and health care services, models of care allowing access to relatives, and routine assessment of families in specialized clinics.8 There are few data revealing how practices vary worldwide. Here we explore current practices of postmortem investigation, including genetic testing and clinical follow-up of surviving family members worldwide, as well as attitudes toward these practices of health care professionals involved.
Section snippets
Participants and recruitment
For this cross-sectional survey, health care professionals involved in postmortem genetic testing, including cardiologists, genetic counselors, clinical geneticists, and pathologists, were asked to participate. Health care professionals were approached through newsletters of relevant societies (both national and international societies) (Supplemental Table S1), via social media (Twitter), and/or directly by 2 of the authors (JI, PvT). The survey was provided online, using Redcap survey software.
Demographics
In total, 112 respondents participated in the survey, of whom 100 completed the entire survey. As it is unclear how many health care professionals received the survey invitation, a response rate could not be calculated. Figure 1 shows the sociodemographic characteristics of participants. Most participants were cardiologists (N = 41 [37%]) or genetic counselors (N = 36 [33%]). Other professions included clinical geneticists, pathologists, scientists, cardiac nurses, and cardiology fellows. No
Discussion
Postmortem investigation including genetic testing and clinical follow-up of surviving family members is not routinely performed after SCD in the young across all continents involved in this study. Indeed, this study reveals striking inconsistencies within and between countries and continents, in access to all aspects of the postmortem genetic investigation, from the completion of an autopsy to access to clinical and genetic investigations.
Global practices are remarkably inconsistent, often
Conclusion
We showed that access to cardiogenetic evaluation after SCD in the young is highly variable among countries, and that many aspects of the process of the investigation are largely inconsistent, leaving many cases inadequately investigated. Lack of financial resources and limited knowledge about the importance among professionals involved may lead to inequities in access for many SCD families. Health services should aim to make postmortem genetic testing available in all cases of SCD in the young
Acknowledgments
We thank all health care professionals who participated in this survey.
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Cited by (6)
Principles of Genetic Counseling in Inherited Heart Conditions
2023, Cardiac Electrophysiology ClinicsConcealed Cardiomyopathy in Autopsy-Inconclusive Cases of Sudden Cardiac Death and Implications for Families
2022, Journal of the American College of CardiologySudden cardiac death in the young: A qualitative study of experiences of family members with cardiogenetic evaluation
2023, Journal of Genetic CounselingWhither social media and clinical genetics?
2023, American Journal of Medical Genetics, Part APostmortem genetic testing in young individuals: What clinical medical practitioners need to know
2022, South African Medical Journal
Funding sources: This work was supported by the Netherlands Cardiovascular Research Initiative, an initiative with support of the Dutch Heart Foundation (2015-12 eDETECT), and the eDETECT Young Talent Fund to Lieke M. van den Heuvel. Laura Yeates is a recipient of a co-funded National Heart Foundation of Australia/National Health and Medical Research Council (NHMRC) PhD Scholarship (#102568/#191351). Dr Semsarian is the recipient of a National Health and Medical Research Council (NHMRC) Practitioner Fellowship (#1154992). Dr Ingles is the recipient of an NHMRC Career Development Fellowship (#1162929).
Disclosures: Dr James receives research grant support from Boston Scientific Corp. Dr Ingles receives research grant support from Myokardia, Inc. All other authors have reported that they have no relationships relevant to the contents of this paper to disclose.