Genetic Health Education in Adolescents with Congenital Heart Disease: A Patient, Parent and Clinician Perspective

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O’Malley, Janine Smith, Gary F. Sholler, Julian Ayer, and 1 more This is a preprint; it has not been peer reviewed by a journal. https://doi.org/ 10.21203/rs.3.rs-7191712/v1 This work is licensed under a CC BY 4.0 License Status: Published Journal Publication published 16 Sep, 2025 Read the published version in Pediatric Cardiology → Version 1 posted 15 You are reading this latest preprint version Abstract Background: Improvements in outcomes for congenital heart disease (CHD) have resulted in a growing adolescent/adult CHD population. Subsequently, education on CHD causes and inheritance has been identified as important. This study aimed to determine population-specific understanding and preferences of CHD causes and inheritance education. Methods: CHD adolescents aged 13–18 years, their parent, and clinicians involved in the care of patients with CHD completed a purpose-designed, online survey outlining their current understanding of CHD genetics and inheritance and their preferences for education content and delivery. Results: Approximately 50% of participants were unsure if CHD was caused by genetic factors, and 25% believed CHD was not genetic. Many participants (63%(19/30) adolescents, 81%(26/32) parents) wanted to know more about CHD causes, with most considering this important. Over 60% of participants indicated that CHD causes had not been discussed with them, despite 74% of clinicians (17/23) indicating they discuss this. Information on genetic causes of CHD and recurrence risks, delivered in-person with parents present, was the preferred option for the content and delivery of this information. Most clinicians indicated genetics education should be introduced between 12–14 years, whereas adolescents and parents preferred this to occur between 14–16 years. Conclusion: Participants want to know more about CHD causes and inheritance, in an outpatient setting with parents in attendance. The findings of this study support the development of a specialised genetics education program about CHD causes and inheritance for adolescents with CHD. Further, it provides important insight into the content, timing and delivery of this information. Congenital Heart Disease Adolescents Education Genetics Recurrence Figures Figure 1 Figure 2 Figure 3 Introduction Congenital Heart Disease (CHD) is the most prevalent congenital abnormality, affecting approximately 9.4/1000 babies born globally[ 1 , 2 ]. CHD is a clinically heterogenous condition that encompasses various structural lesions affecting the heart, heart valves or central blood vessels[ 1 ]. Improved outcomes for CHD patients, with 97% of affected children surviving to adulthood, have resulted in an expanding adolescent and adult CHD population, with an estimated annual increase of ~ 5%[ 3 ]. Subsequently, addressing outcomes, such as long-term health and quality of life, is increasingly relevant for this population[ 4 ]. The aetiology of CHD is complex and, in most cases (~ 80%), is thought to be multifactorial, with both genetic and environmental (maternal-fetal-placental) factors contributing to disease development. Approximately 20–30% of CHD cases are attributed to known causes[ 5 , 6 ]. Recurrence rates in CHD can vary considerably depending on whether the condition is familial, if it occurs in isolation or with other non-cardiac health issues[ 5 ]. As such, having a better understanding of the causes of CHD and associated recurrence risks is important for adolescents and young adults with CHD as this has important consequences for family planning. The shift in disease outlook as a result of improved long-term outcomes for CHD has emphasized the importance of effective transition processes from paediatric to adult cardiac care, including education and psychosocial support[ 7 – 10 ]. Education about causes and recurrence risks has been identified as an important area for improvement[ 8 , 10 – 13 ], however, little evidence exists about best practices for the content and delivery of this information. This study aimed to determine population-specific understanding and preferences of CHD causes and inheritance education in Australian adolescents with CHD, their parents, and clinicians involved in CHD care, to inform the development of a specialised genetics education program. This work builds on the literature[ 14 ], through the inclusion of a more multicultural study cohort representative of the Australian population, greater representation of CHD lesions across the severity spectrum and, importantly, the inclusion of clinicians’ perspectives on this topic. Methods This study was approved by the Sydney Children’s Hospital Network (SCHN) Human Research Ethics Committee (2022/ETH01064). Adolescents with CHD aged 13–18 years and their parent (participants), attending routine cardiology appointments at the Sydney Children's Hospital Network (SCHN), completed a purpose-designed, online survey outlining their current understanding of CHD genetics and inheritance, and their preferences for education content and delivery. Parents/guardians of adolescents with a diagnosed syndrome with associated neurodevelopmental delay were approached and were able to determine their child’s capacity to participate. Non-English-speaking participants requiring an interpreter, were approached if an interpreter was present. Participants’ electronic medical records were used to confirm cardiac and genetic diagnoses, and any engagement with clinical genetics services at SCHN. The survey comprised the following four domains; Information about you (9 items) About your heart condition (9 items) Your understanding of heart disease causes (6 items) Your preferences for a genetics education program (6 items) For further details on survey design, refer to supplementary methods. Clinicians involved in the care of CHD patients at SCHN and nationally via the Cardiac Society of Australia and New Zealand’s (CSANZ) Paediatric and Congenital Council, completed a survey to identify current practices and preferences for the delivery of this information. Participant and clinician responses were analysed initially as three distinct groups and subsequently as paired adolescent-parent dyads. Descriptive statistics were used to describe demographic and clinical characteristics, and appropriate descriptive and statistical analyses were applied. Chi-squared analyses were used to evaluate correlations between participant demographics and clinical characteristics and items assessing their understanding of genetic causes of CHD and recurrence risks. Additional analyses compared responses between adolescents, parents, and clinicians. All statistical analyses were completed using SPSS version 25. Results Adolescent and parent analysis Over a 12-month period, 118 participants were consented to the study and 62 participants completed the survey, resulting in a response rate of 53% (Figure 1). Participant demographic characteristics are shown in Table 1. The range of CHD severity was well represented with 46%(14/30) adolescents exhibiting complex CHD, and the remainder simple or moderate disease[15]. 7%(2/30) of adolescents and 12%(4/32) parents reported a family history of CHD (Table 1). Participants were largely unsure if CHD was caused by genetic factors, and 25% believed CHD was not genetic (Figure 2). There was no significant difference between adolescents and parents in their understanding of genetic causes of CHD (p=0.755,Figure 2). 48%(14/30) of adolescents stated they had learnt about genetics at school (Table 1) and this was not significantly associated with having a better understanding of CHD genetic causes (p=0.378) or recurrence (p=0.529). Despite 72%(13/18) of clinicians indicating they discuss CHD causes, over 60% of participants indicated this had not been discussed with them. More male adolescents reported that they had engaged in these discussions (53%,9/17), compared to their female counterparts (15%,2/13,p=0.057) and that this was mostly with their parents and/or cardiologist. Parent recollections of their experience of these discussions are highlighted by the free text responses: “We were told left heart defects are not genetic and no known causes are known” “He was just born with it. No reason for it. Advised by the doctor at 5 days old.” In terms of recurrence risks, approximately 33%(10/30) of adolescents and 38%(12/32) of parents indicated that they/their child could pass on their heart condition to their children (Figure 2). Interestingly, one adolescent indicated it was ‘certain’ that they would pass on CHD to their children; and three adolescents and one parent thought there was no chance of this. Both adolescents and parents highly valued education about CHD causes and recurrence, with 100%(32/32) of parents and 87%(26/30) of adolescents considering this important (Figure 2). In line with this, 81%(26/32) of parents and 63%(19/30) of adolescents wanted to learn more, with similar interest in being contacted for participation in a specialised program, should one become available (60%(18/30)adolescents and 77%(24/31)parents; Figure 3). Parents were eager for their child to learn about all suggested topics and were most interested in risk reduction, recurrence, and resources to access in the future. In comparison, adolescents wanted to learn about CHD causes, effect on family members and resources they could access in the future (Figure 3). Most participants indicated that genetics information should be introduced at age 14-16 years (Figure 3) and most adolescents (60%,18/30) indicated that they wanted their parents present during discussions. Dyad analysis Dyad analysis assessed parent-adolescent responses among the 21 dyad pairs across all survey items. There were no significant differences in responses between parent and adolescent dyads across any of the survey items. Clinician Analysis: 23/140 contacted clinicians completed the survey, resulting in a response rate of 16% (Figure 1). Responses received included those from local clinicians and clinicians practicing around Australia. The cohort was broken down by specialty with those who primarily provide cardiac care (e.g cardiologist), including 1 paediatrician and 3 cardiac specialty nurses, referred to as ‘cardiac clinicians’ (n=18) and those providing primarily genetics-related care as ‘genetic clinicians’ (n=5) (Supplementary Figure 1). Most clinicians had over 15yrs experience (Supplementary Figure 1) and provided care to paediatric, or both paediatric and adult CHD patients. Most cardiac clinicians (61%,11/18) were confident in their CHD genetics knowledge and were comfortable discussing this information (72%,13/18). When asked to elaborate on the topics they discuss, cardiac clinicians indicated that they ‘always’ and/or ‘often’ discuss ‘CHD causes’ (10/12), ‘CHD recurrence’ (10/14), ‘Genetic testing availability’ (9/13) and ‘Options for referrals to genetic services’ (12/17) (Supplementary Figure 2). All clinicians (23/23) thought that it was important for patients and their families to understand CHD causes and inheritance, with all cardiac clinicians (18/18) and most (4/5, 80%) clinical genetics clinicians indicating that a specialised genetics education program would be beneficial for their patients. Nearly half of all clinicians thought genetics education should be introduced at ages 12-14 years (43%,10/23)(Figure 3). Cardiologists were identified as being the most appropriate person to introduce CHD genetics discussions (65%,15/23) and a genetic counsellor (61%,14/23) as the ideal person to discuss detailed information with patients. Both cardiac and genetic clinicians identified the ideal setting for the delivery of CHD genetics information as individually, in-person(Figure 3). Discussion To date, there is limited data on CHD adolescents’ understanding of CHD genetics and inheritance. This study aimed to investigate current understanding of CHD genetics and recurrence in adolescents with CHD and their parents, preferred delivery modes, and content of a specialized genetics education program in our unique Australian population. Expanding on work by Crawford et al (2020), with the inclusion of the clinician perspective, greater representation across disease severity and cultural diversity, this study aimed to inform the development of a specialised CHD genetics education program, to be implemented into routine cardiac care of adolescents with CHD. The importance of effective education for adolescents with CHD transitioning from paediatric to adult cardiac care is well described[ 7 , 9 , 10 , 16 ]. Education about recurrence risks was identified as an important area for improvement[ 10 – 13 , 16 ], however, little evidence exists about best practices for the content and delivery of this information. This study identified that both adolescents and parents highly valued education about CHD causes and recurrence risks, with most indicating they wanted to learn more about this. Participants also thought having a good understanding of CHD causes and recurrence risks was important. Current understanding and experiences Most participants had a good understanding of their CHD, contrasting previous reports[ 17 ].Participant recounts of receiving information on CHD causes in our cohort were low, albeit consistent with the literature[ 13 , 18 ], highlighting the importance of ongoing and repeated discussions to reinforce the topic. Further, parents indicated that these discussions typically occurred following a clinical suspicion of a syndromic diagnosis, however, for most patients with isolated CHD, parents could only recall limited information about the possible causes being provided. Importantly, a quarter of study participants did not think that CHD may be caused by genetic factors, with most indicating they were ‘unsure’ and only about a third of participants thought that CHD could be passed onto future generations, similar to previous reports[ 14 ]. This highlights the need for improved genetics education in this patient group, specifically on the causes and inheritance/recurrence of CHD. While recurrence risks are generally low for isolated CHD, they can vary considerably between specific CHD types and clinical presentations and in some cases can be as high as other monogenic diseases. It is therefore important that patients are aware of these increased risks and whether they relate to their specific clinical presentation as they enter reproductive age. Clinicians were confident in their understanding of CHD genetics and their ability to relay basic information to their patients about CHD causes and recurrence, with most clinicians(72%) indicating that they provide this information to most or all their patients and take as long as needed to explain this information. Program delivery preferences The ideal setting to deliver genetics education was individually in-person, with parents present, in conjunction with a routine cardiology appointment at 14–16 years of age. This is in line with reports in the literature where participants preferred in-person education session, at ~ 16 years of age and with parents and clinicians present[ 14 , 16 ]. Adolescent and parental preferences for an education program were largely similar. Adolescents highly favored in-person delivery of education, and surprisingly, showed little interest in e-based learning options, however, this is reflective of current literature[ 14 ]. Our study expanded on previous reports in terms of the content of the genetic education with participants being able to indicate their preferences on topics covered. Adolescents were mostly interested in CHD causes, whereas parents’ preferences were high across all topics, possibly reflecting a greater interest in any information related to this topic having already had a child with CHD. Clinicians were supportive of a specialised genetics education program and mirrored participant preferences in terms of the setting and mode of delivery. They also indicated cardiologists as the most appropriate person to engage in initial discussions about CHD causes and inheritance and for a genetics clinician to provide more detailed information on this. Interestingly, clinicians indicated that the education session should be delivered earlier between the ages of 12–14 years, suggestive of the relevance at this life stage and an increased confidence in their patients’ abilities to absorb the information at a younger age. The findings of this study support the development of a genetics education program for adolescents with CHD, as follows: To deliver a voluntary individual, in-person genetics education program to patients with CHD, built into existing transition clinics and/or cardiac appointments, preferably between the ages of 14–16 years To have the option of parents/additional family members/support person in attendance at the genetics education program To cover topics including: (1)the causes of CHD, (2)inheritance and recurrence risks of CHD, (3)risk reduction in CHD, (4)available resources and information, and (5) a brief overview of pre-pregnancy planning We acknowledge that these preferences represent those of the study participants and may not consider practical aspects, including resourcing and scalability beyond specialist centers/services. As such, this study also recommends: Ongoing conversations, relevant to life-stage, between cardiologists, parents and young people with CHD about CHD causes and inheritance to reinforce this information over time to ensure retention and relevancy. Earlier preliminary discussions on CHD causes and inheritance introduced to adolescents and parents by cardiologists from the ages of 12–14 years to raise awareness of the topic. Exploring other avenues, such as e-based options, as alternatives in cases where resources are mis-matched to demand and to address feasibility and scalability. Opportunities and resources adolescents can access in future, particularly for topics related to recurrence and pre-pregnancy planning. Future work should focus on the development, implementation, and evaluation of a specialised genetics education program as part of routine cardiac care for adolescents with CHD. While this work and that of others, support an individual, in-person genetics education program, future work should focus on the practicalities, including the allocation and funding of the many resources required, to facilitate this. Acknowledging ideal participant preferences, other avenues, such as e-based options, may need to be explored as alternatives in cases where resources are mis-matched to demand. Finally, further investigation into the effectiveness of genetics education for patients with CHD, particularly in the long term and how this information may inform and promote improved healthcare outcomes, also in terms of family planning, for this patient group will be needed. Limitations : There are several limitations to consider in this study. As with most surveys, there will be participation bias, with those study participants and clinicians more interested and/or familiar with the survey topic, more likely to participate, than those that aren’t. Further, as study participants were recruited during their cardiology appointments, this may have influenced their responses, particularly their understanding of their heart defect. While participants with a broad range of cardiac lesions were recruited to the study, including some with less severe/complex disease, they were recruited from outpatient cardiac clinics typically requiring ongoing care, such that those patients no longer engaging in the service, being excluded. Similarly, while study participants represent a culturally diverse population, representative of the largest tertiary paediatric cardiac centre in New South Wales, the findings are limited to a single institution. Finally, the views and experiences of parent participants, most likely reflect experiences and information received at the time of their child’s surgery which may be > 17 years ago and therefore, may not reflect current practices and experiences. Conclusion In summary, adolescents with CHD require an effective transition process, equipping them with the required skills and knowledge to navigate this shift in medical autonomy. Having a sound understanding of the genetic causes of CHD and the associated recurrence risks is key information as they begin to contemplate this. While study limitations including participation and recall bias, need to be acknowledged, the findings of this study support the development of a specialised genetics education program for all adolescents with CHD and provide important insight into the content, timing and delivery of this information. Declarations None declared Consent : All participants provided informed consent to participate in this study. Funding: BRO’M is supported by a Postgraduate Scholarship (ID 108330-2024_PGS) from the National Heart Foundation of Australia. GMB is supported by a NSW Health Cardiovascular Research Capacity Program Early-Mid Career Researcher Grant; and a NSW CVRN Career Advancement Grant. Author Contribution G.B developed the study and contributed to data analysis and manuscript preparation. J.S, G.S, J.A contributed to study design and methodology. B.O'M undertook data collation and analysis, manuscript preparation and preparation of figures and tables. All authors reviewed the manuscript. Acknowledgement The authors would like to thank all the participants who generously gave their time to complete the survey and provide their valuable insight and unique perspectives. References Australian Institute of Health and Welfare. Congenital heart disease in Australia. Canberra: AIHW; 2019. Liu YJ, Chen S, Zühlke L, et al. Global birth prevalence of congenital heart defects 1970-2017: updated systematic review and meta-analysis of 260 studies. Int J Epidemiol. 2019;48(2):455-63. Leggat S. 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Planning Transition of Care for Adolescents Affected by Congenital Heart Disease: The Irish National Pathway. Pediatr Cardiol. 2023;44(1):24-33. Haberer K, Silversides CK. Congenital Heart Disease and Women's Health Across the Life Span: Focus on Reproductive Issues. Can J Cardiol. 2019;35(12):1652-63. Londono-Obregon C, Goldmuntz E, Davey BT, Zhang XM, Slap GB, Kim YY. Adult CHD: the ongoing need for physician counselling about heredity and contraceptive options. Cardiology in the Young. 2017;27(4):671-6. Crawford CA, Vujakovich CE, Elmore L, et al. Adolescents with congenital heart defects: a patient and parental perspective of genetic information and genetic risk. Cardiology in the Young. 2020;30(2):219-26. O'Malley BR, Raja N, Blue GM, Winlaw DS, Sholler GF, Congenital Heart Disease Synergy Study G. The CHD severity classification system: development of a tool to assist with disease stratification for CHD research. Cardiol Young. 2024:1-6. de Hosson M, De Groote K, Wynendaele H, Mosquera LM, Goossens E, De Backer J. Preferences for disease-related information and transitional skills among adolescents with congenital heart disease in the early transitional stage. European Journal of Pediatrics. 2023;182(9):3917-27. Van Deyk K, Pelgrims E, Troost E, et al. Adolescents' understanding of their congenital heart disease on transfer to adult-focused care. Am J Cardiol. 2010;106(12):1803-7. Kasparian NA, Fidock B, Sholler GF, et al. Parents' perceptions of genetics services for congenital heart disease: the role of demographic, clinical, and psychological factors in determining service attendance. Genetics in Medicine. 2014;16(6):460-8. Table 1 Table 1 is available in the Supplementary Files section. Additional Declarations No competing interests reported. Supplementary Files V5Supplementarymaterial.docx GeneticHealthinAdolescentCHDTable1.docx Cite Share Download PDF Status: Published Journal Publication published 16 Sep, 2025 Read the published version in Pediatric Cardiology → Version 1 posted Editorial decision: Revision requested 30 Jul, 2025 Reviews received at journal 30 Jul, 2025 Reviewers agreed at journal 29 Jul, 2025 Reviews received at journal 29 Jul, 2025 Reviews received at journal 28 Jul, 2025 Reviewers agreed at journal 28 Jul, 2025 Reviewers agreed at journal 28 Jul, 2025 Reviewers agreed at journal 25 Jul, 2025 Reviewers agreed at journal 24 Jul, 2025 Reviewers agreed at journal 24 Jul, 2025 Reviewers agreed at journal 24 Jul, 2025 Reviewers invited by journal 24 Jul, 2025 Editor assigned by journal 23 Jul, 2025 Submission checks completed at journal 23 Jul, 2025 First submitted to journal 22 Jul, 2025 You are reading this latest preprint version Research Square lets you share your work early, gain feedback from the community, and start making changes to your manuscript prior to peer review in a journal. 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Sholler","email":"","orcid":"","institution":"Sydney Children’s Hospital Network","correspondingAuthor":false,"prefix":"","firstName":"Gary","middleName":"F.","lastName":"Sholler","suffix":""},{"id":490878611,"identity":"d88df5d4-e19a-457b-a05f-9f547be07f26","order_by":3,"name":"Julian Ayer","email":"","orcid":"","institution":"Sydney Children’s Hospital Network","correspondingAuthor":false,"prefix":"","firstName":"Julian","middleName":"","lastName":"Ayer","suffix":""},{"id":490878612,"identity":"e5b76a00-f832-46d8-83cb-18228c92ef0f","order_by":4,"name":"Gillian M. Blue","email":"data:image/png;base64,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","orcid":"","institution":"Sydney Children’s Hospital Network","correspondingAuthor":true,"prefix":"","firstName":"Gillian","middleName":"M.","lastName":"Blue","suffix":""}],"badges":[],"createdAt":"2025-07-23 03:38:38","currentVersionCode":1,"declarations":"","doi":"10.21203/rs.3.rs-7191712/v1","doiUrl":"https://doi.org/10.21203/rs.3.rs-7191712/v1","draftVersion":[],"editorialEvents":[{"content":"https://doi.org/10.1007/s00246-025-04010-4","type":"published","date":"2025-09-16T15:56:50+00:00"}],"editorialNote":"","failedWorkflow":false,"files":[{"id":87732323,"identity":"4f66a789-66ca-4beb-bfcb-572f03ee2e18","added_by":"auto","created_at":"2025-07-28 11:48:52","extension":"png","order_by":1,"title":"Figure 1","display":"","copyAsset":false,"role":"figure","size":95636,"visible":true,"origin":"","legend":"\u003cp\u003eStudy recruitment and participant response rate\u003c/p\u003e\n\u003cp\u003e*Reasons for not consenting included being under 18 years of age with no parent to co-consent and not wanting to participate.\u003c/p\u003e","description":"","filename":"1.png","url":"https://assets-eu.researchsquare.com/files/rs-7191712/v1/23d7a88c6936a5f204821f0a.png"},{"id":87732326,"identity":"1e0866d6-2af6-4259-b98d-96ebbc07fd4c","added_by":"auto","created_at":"2025-07-28 11:48:52","extension":"png","order_by":2,"title":"Figure 2","display":"","copyAsset":false,"role":"figure","size":96461,"visible":true,"origin":"","legend":"\u003cp\u003eParticipant understanding and importance of CHD causes and inheritance\u003c/p\u003e","description":"","filename":"2.png","url":"https://assets-eu.researchsquare.com/files/rs-7191712/v1/0d635a2c09fabcc3d37398b9.png"},{"id":87733289,"identity":"7b5a3a5c-417c-4af1-b1b7-3e3fcad6be06","added_by":"auto","created_at":"2025-07-28 11:56:52","extension":"png","order_by":3,"title":"Figure 3","display":"","copyAsset":false,"role":"figure","size":135252,"visible":true,"origin":"","legend":"\u003cp\u003eParticipant interest and preferences for CHD genetics education.\u003c/p\u003e\n\u003cp\u003e\u003cem\u003e# A multistage approach, with written information provided followed by tailored counselling.\u003c/em\u003e\u003c/p\u003e\n\u003cp\u003e*impact on ability to exercise and weightlifting, contact at the Children’s Hospital once their child leaves at 18 years and one parent did not provide a response\u003c/p\u003e","description":"","filename":"3.png","url":"https://assets-eu.researchsquare.com/files/rs-7191712/v1/70013f96eac3fcf0f42e4f0e.png"},{"id":91889768,"identity":"e9b79b82-72e1-446b-90ba-9348062339f4","added_by":"auto","created_at":"2025-09-22 16:00:05","extension":"pdf","order_by":0,"title":"","display":"","copyAsset":false,"role":"manuscript-pdf","size":822919,"visible":true,"origin":"","legend":"","description":"","filename":"manuscript.pdf","url":"https://assets-eu.researchsquare.com/files/rs-7191712/v1/1846b493-c769-4ac6-8251-f4366029481a.pdf"},{"id":87733291,"identity":"06a45c2d-bf0c-4a0b-9d57-8252b4383f2a","added_by":"auto","created_at":"2025-07-28 11:56:52","extension":"docx","order_by":1,"title":"","display":"","copyAsset":false,"role":"supplement","size":409487,"visible":true,"origin":"","legend":"","description":"","filename":"V5Supplementarymaterial.docx","url":"https://assets-eu.researchsquare.com/files/rs-7191712/v1/ff43214019a9b658f1acbb5b.docx"},{"id":87732328,"identity":"068bb3f0-232b-4972-bea2-44ff95cccfbf","added_by":"auto","created_at":"2025-07-28 11:48:52","extension":"docx","order_by":2,"title":"","display":"","copyAsset":false,"role":"supplement","size":19795,"visible":true,"origin":"","legend":"","description":"","filename":"GeneticHealthinAdolescentCHDTable1.docx","url":"https://assets-eu.researchsquare.com/files/rs-7191712/v1/0d0d60b98b0c0f8cbc3a046d.docx"}],"financialInterests":"No competing interests reported.","formattedTitle":"Genetic Health Education in Adolescents with Congenital Heart Disease: A Patient, Parent and Clinician Perspective","fulltext":[{"header":"Introduction","content":"\u003cp\u003eCongenital Heart Disease (CHD) is the most prevalent congenital abnormality, affecting approximately 9.4/1000 babies born globally[\u003cspan citationid=\"CR1\" class=\"CitationRef\"\u003e1\u003c/span\u003e, \u003cspan citationid=\"CR2\" class=\"CitationRef\"\u003e2\u003c/span\u003e]. CHD is a clinically heterogenous condition that encompasses various structural lesions affecting the heart, heart valves or central blood vessels[\u003cspan citationid=\"CR1\" class=\"CitationRef\"\u003e1\u003c/span\u003e]. Improved outcomes for CHD patients, with 97% of affected children surviving to adulthood, have resulted in an expanding adolescent and adult CHD population, with an estimated annual increase of ~ 5%[\u003cspan citationid=\"CR3\" class=\"CitationRef\"\u003e3\u003c/span\u003e]. Subsequently, addressing outcomes, such as long-term health and quality of life, is increasingly relevant for this population[\u003cspan citationid=\"CR4\" class=\"CitationRef\"\u003e4\u003c/span\u003e].\u003c/p\u003e\u003cp\u003eThe aetiology of CHD is complex and, in most cases (~ 80%), is thought to be multifactorial, with both genetic and environmental (maternal-fetal-placental) factors contributing to disease development. Approximately 20–30% of CHD cases are attributed to known causes[\u003cspan citationid=\"CR5\" class=\"CitationRef\"\u003e5\u003c/span\u003e, \u003cspan citationid=\"CR6\" class=\"CitationRef\"\u003e6\u003c/span\u003e]. Recurrence rates in CHD can vary considerably depending on whether the condition is familial, if it occurs in isolation or with other non-cardiac health issues[\u003cspan citationid=\"CR5\" class=\"CitationRef\"\u003e5\u003c/span\u003e]. As such, having a better understanding of the causes of CHD and associated recurrence risks is important for adolescents and young adults with CHD as this has important consequences for family planning.\u003c/p\u003e\u003cp\u003eThe shift in disease outlook as a result of improved long-term outcomes for CHD has emphasized the importance of effective transition processes from paediatric to adult cardiac care, including education and psychosocial support[\u003cspan additionalcitationids=\"CR8 CR9\" citationid=\"CR7\" class=\"CitationRef\"\u003e7\u003c/span\u003e–\u003cspan citationid=\"CR10\" class=\"CitationRef\"\u003e10\u003c/span\u003e]. Education about causes and recurrence risks has been identified as an important area for improvement[\u003cspan citationid=\"CR8\" class=\"CitationRef\"\u003e8\u003c/span\u003e, \u003cspan additionalcitationids=\"CR11 CR12\" citationid=\"CR10\" class=\"CitationRef\"\u003e10\u003c/span\u003e–\u003cspan citationid=\"CR13\" class=\"CitationRef\"\u003e13\u003c/span\u003e], however, little evidence exists about best practices for the content and delivery of this information. This study aimed to determine population-specific understanding and preferences of CHD causes and inheritance education in Australian adolescents with CHD, their parents, and clinicians involved in CHD care, to inform the development of a specialised genetics education program. This work builds on the literature[\u003cspan citationid=\"CR14\" class=\"CitationRef\"\u003e14\u003c/span\u003e], through the inclusion of a more multicultural study cohort representative of the Australian population, greater representation of CHD lesions across the severity spectrum and, importantly, the inclusion of clinicians’ perspectives on this topic.\u003c/p\u003e"},{"header":"Methods","content":"\u003cp\u003eThis study was approved by the Sydney Children’s Hospital Network (SCHN) Human Research Ethics Committee (2022/ETH01064). Adolescents with CHD aged 13–18 years and their parent (participants), attending routine cardiology appointments at the Sydney Children's Hospital Network (SCHN), completed a purpose-designed, online survey outlining their current understanding of CHD genetics and inheritance, and their preferences for education content and delivery. Parents/guardians of adolescents with a diagnosed syndrome with associated neurodevelopmental delay were approached and were able to determine their child’s capacity to participate. Non-English-speaking participants requiring an interpreter, were approached if an interpreter was present. Participants’ electronic medical records were used to confirm cardiac and genetic diagnoses, and any engagement with clinical genetics services at SCHN.\u003c/p\u003e\u003cp\u003eThe survey comprised the following four domains;\u003c/p\u003e\u003col style=\"list-style-type: upper-alpha;\"\u003e\u003cspan\u003e\u003cli\u003e\u003cp\u003e\u003cb\u003eInformation about you (9 items)\u003c/b\u003e\u003c/p\u003e\u003c/li\u003e\u003c/span\u003e\u003cspan\u003e\u003cli\u003e\u003cp\u003e\u003cb\u003eAbout your heart condition (9 items)\u003c/b\u003e\u003c/p\u003e\u003c/li\u003e\u003c/span\u003e\u003cspan\u003e\u003cli\u003e\u003cp\u003e\u003cb\u003eYour understanding of heart disease causes (6 items)\u003c/b\u003e\u003c/p\u003e\u003c/li\u003e\u003c/span\u003e\u003cspan\u003e\u003cli\u003e\u003cp\u003e\u003cb\u003eYour preferences for a genetics education program (6 items)\u003c/b\u003e\u003c/p\u003e\u003c/li\u003e\u003c/span\u003e\u003c/ol\u003e\u003cp\u003eFor further details on survey design, refer to supplementary methods.\u003c/p\u003e\u003cp\u003eClinicians involved in the care of CHD patients at SCHN and nationally via the Cardiac Society of Australia and New Zealand’s (CSANZ) Paediatric and Congenital Council, completed a survey to identify current practices and preferences for the delivery of this information.\u003c/p\u003e\u003cp\u003eParticipant and clinician responses were analysed initially as three distinct groups and subsequently as paired adolescent-parent dyads. Descriptive statistics were used to describe demographic and clinical characteristics, and appropriate descriptive and statistical analyses were applied. Chi-squared analyses were used to evaluate correlations between participant demographics and clinical characteristics and items assessing their understanding of genetic causes of CHD and recurrence risks. Additional analyses compared responses between adolescents, parents, and clinicians. All statistical analyses were completed using SPSS version 25.\u003c/p\u003e"},{"header":"Results","content":"\u003cp\u003e\u003cem\u003eAdolescent and parent analysis\u003c/em\u003e\u003c/p\u003e\n\u003cp\u003eOver a 12-month period, 118 participants were consented to the study and 62 participants completed the survey, resulting in a response rate of 53% (Figure 1). Participant demographic characteristics are shown in Table 1. The range of CHD severity was well represented with 46%(14/30) adolescents exhibiting complex CHD, and the remainder simple or moderate disease[15]. 7%(2/30) of adolescents and 12%(4/32) parents reported a family history of CHD (Table 1).\u0026nbsp;\u003c/p\u003e\n\u003cp\u003eParticipants were largely unsure if CHD was caused by genetic factors, and 25% believed CHD was not genetic (Figure 2). There was no significant difference between adolescents and parents in their understanding of genetic causes of CHD (p=0.755,Figure 2). 48%(14/30) of adolescents stated they had learnt about genetics at school (Table 1) and this was not significantly associated with having a better understanding of CHD genetic causes (p=0.378) or recurrence (p=0.529). Despite 72%(13/18) of clinicians indicating they discuss CHD causes, over 60% of participants indicated this had not been discussed with them. More male adolescents reported that they had engaged in these discussions (53%,9/17), compared to their female counterparts (15%,2/13,p=0.057) and that this was mostly with their parents and/or cardiologist. Parent recollections of their experience of these discussions are highlighted by the free text responses:\u003c/p\u003e\n\u003cp\u003e\u003cem\u003e“We were told left heart defects are not genetic and no known causes are known”\u003c/em\u003e\u003c/p\u003e\n\u003cp\u003e\u003cem\u003e“He was just born with it. No reason for it. Advised by the doctor at 5 days old.”\u003c/em\u003e\u003c/p\u003e\n\u003cp\u003e\u0026nbsp;In terms of recurrence risks, approximately 33%(10/30) of adolescents and 38%(12/32) of parents indicated that they/their child could pass on their heart condition to their children (Figure 2). Interestingly, one adolescent indicated it was ‘certain’ that they would pass on CHD to their children; and three adolescents and one parent thought there was no chance of this.\u003c/p\u003e\n\u003cp\u003eBoth adolescents and parents highly valued education about CHD causes and recurrence, with 100%(32/32) of parents and 87%(26/30) of adolescents considering this important (Figure 2). In line with this, 81%(26/32) of parents and 63%(19/30) of adolescents wanted to learn more, with similar interest in being contacted for participation in a specialised program, should one become available (60%(18/30)adolescents and 77%(24/31)parents; Figure 3). Parents were eager for their child to learn about all suggested topics and were most interested in risk reduction, recurrence, and resources to access in the future. In comparison, adolescents wanted to learn about CHD causes, effect on family members and resources they could access in the future (Figure 3). Most participants indicated that genetics information should be introduced at age 14-16 years (Figure 3) and most adolescents (60%,18/30) indicated that they wanted their parents present during discussions.\u003c/p\u003e\n\u003cp\u003e\u003cem\u003eDyad analysis\u003c/em\u003e\u003c/p\u003e\n\u003cp\u003eDyad analysis assessed parent-adolescent responses among the 21 dyad pairs across all survey items. There were no significant differences in responses between parent and adolescent dyads across any of the survey items.\u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u003cem\u003eClinician Analysis:\u0026nbsp;\u003c/em\u003e\u003c/p\u003e\n\u003cp\u003e23/140 contacted clinicians completed the survey, resulting in a response rate of 16% (Figure 1). Responses received included those from local clinicians and clinicians practicing around Australia. The cohort was broken down by specialty with those who primarily provide cardiac care (e.g cardiologist), including 1 paediatrician and 3 cardiac specialty nurses, referred to as ‘cardiac clinicians’ (n=18) and those providing primarily genetics-related care as ‘genetic clinicians’ (n=5) (Supplementary Figure 1). Most clinicians had over 15yrs experience (Supplementary Figure 1) and provided care to paediatric, or both paediatric and adult CHD patients. \u0026nbsp;\u003c/p\u003e\n\u003cp\u003eMost cardiac clinicians (61%,11/18) were confident in their CHD genetics knowledge and were comfortable discussing this information (72%,13/18). When asked to elaborate on the topics they discuss, cardiac clinicians indicated that they ‘always’ and/or ‘often’ discuss ‘CHD causes’ (10/12), ‘CHD recurrence’ (10/14), ‘Genetic testing availability’ (9/13) and ‘Options for referrals to genetic services’ (12/17) (Supplementary Figure 2).\u0026nbsp;\u003c/p\u003e\n\u003cp\u003eAll clinicians (23/23) thought that it was important for patients and their families to understand CHD causes and inheritance, with all cardiac clinicians (18/18) and most (4/5, 80%) clinical genetics clinicians indicating that a specialised genetics education program would be beneficial for their patients. Nearly half of all clinicians thought genetics education should be introduced at ages 12-14 years (43%,10/23)(Figure 3). Cardiologists were identified as being the most appropriate person to introduce CHD genetics discussions (65%,15/23) and a genetic counsellor (61%,14/23) as the ideal person to discuss detailed information with patients. Both cardiac and genetic clinicians identified the ideal setting for the delivery of CHD genetics information as individually, in-person(Figure 3).\u003c/p\u003e"},{"header":"Discussion","content":"\u003cp\u003eTo date, there is limited data on CHD adolescents\u0026rsquo; understanding of CHD genetics and inheritance. This study aimed to investigate current understanding of CHD genetics and recurrence in adolescents with CHD and their parents, preferred delivery modes, and content of a specialized genetics education program in our unique Australian population. Expanding on work by Crawford et al (2020), with the inclusion of the clinician perspective, greater representation across disease severity and cultural diversity, this study aimed to inform the development of a specialised CHD genetics education program, to be implemented into routine cardiac care of adolescents with CHD.\u003c/p\u003e\u003cp\u003eThe importance of effective education for adolescents with CHD transitioning from paediatric to adult cardiac care is well described[\u003cspan citationid=\"CR7\" class=\"CitationRef\"\u003e7\u003c/span\u003e, \u003cspan citationid=\"CR9\" class=\"CitationRef\"\u003e9\u003c/span\u003e, \u003cspan citationid=\"CR10\" class=\"CitationRef\"\u003e10\u003c/span\u003e, \u003cspan citationid=\"CR16\" class=\"CitationRef\"\u003e16\u003c/span\u003e]. Education about recurrence risks was identified as an important area for improvement[\u003cspan additionalcitationids=\"CR11 CR12\" citationid=\"CR10\" class=\"CitationRef\"\u003e10\u003c/span\u003e\u0026ndash;\u003cspan citationid=\"CR13\" class=\"CitationRef\"\u003e13\u003c/span\u003e, \u003cspan citationid=\"CR16\" class=\"CitationRef\"\u003e16\u003c/span\u003e], however, little evidence exists about best practices for the content and delivery of this information. This study identified that both adolescents and parents highly valued education about CHD causes and recurrence risks, with most indicating they wanted to learn more about this. Participants also thought having a good understanding of CHD causes and recurrence risks was important.\u003c/p\u003e\u003cp\u003e\u003cem\u003eCurrent understanding and experiences\u003c/em\u003e\u003c/p\u003e\u003cp\u003eMost participants had a good understanding of their CHD, contrasting previous reports[\u003cspan citationid=\"CR17\" class=\"CitationRef\"\u003e17\u003c/span\u003e].Participant recounts of receiving information on CHD causes in our cohort were low, albeit consistent with the literature[\u003cspan citationid=\"CR13\" class=\"CitationRef\"\u003e13\u003c/span\u003e, \u003cspan citationid=\"CR18\" class=\"CitationRef\"\u003e18\u003c/span\u003e], highlighting the importance of ongoing and repeated discussions to reinforce the topic. Further, parents indicated that these discussions typically occurred following a clinical suspicion of a syndromic diagnosis, however, for most patients with isolated CHD, parents could only recall limited information about the possible causes being provided. Importantly, a quarter of study participants did not think that CHD may be caused by genetic factors, with most indicating they were \u0026lsquo;unsure\u0026rsquo; and only about a third of participants thought that CHD could be passed onto future generations, similar to previous reports[\u003cspan citationid=\"CR14\" class=\"CitationRef\"\u003e14\u003c/span\u003e]. This highlights the need for improved genetics education in this patient group, specifically on the causes and inheritance/recurrence of CHD. While recurrence risks are generally low for isolated CHD, they can vary considerably between specific CHD types and clinical presentations and in some cases can be as high as other monogenic diseases. It is therefore important that patients are aware of these increased risks and whether they relate to their specific clinical presentation as they enter reproductive age.\u003c/p\u003e\u003cp\u003eClinicians were confident in their understanding of CHD genetics and their ability to relay basic information to their patients about CHD causes and recurrence, with most clinicians(72%) indicating that they provide this information to most or all their patients and take as long as needed to explain this information.\u003c/p\u003e\u003cp\u003e\u003cem\u003eProgram delivery preferences\u003c/em\u003e\u003c/p\u003e\u003cp\u003eThe ideal setting to deliver genetics education was individually in-person, with parents present, in conjunction with a routine cardiology appointment at 14\u0026ndash;16 years of age. This is in line with reports in the literature where participants preferred in-person education session, at ~\u0026thinsp;16 years of age and with parents and clinicians present[\u003cspan citationid=\"CR14\" class=\"CitationRef\"\u003e14\u003c/span\u003e, \u003cspan citationid=\"CR16\" class=\"CitationRef\"\u003e16\u003c/span\u003e]. Adolescent and parental preferences for an education program were largely similar. Adolescents highly favored in-person delivery of education, and surprisingly, showed little interest in e-based learning options, however, this is reflective of current literature[\u003cspan citationid=\"CR14\" class=\"CitationRef\"\u003e14\u003c/span\u003e]. Our study expanded on previous reports in terms of the content of the genetic education with participants being able to indicate their preferences on topics covered. Adolescents were mostly interested in CHD causes, whereas parents\u0026rsquo; preferences were high across all topics, possibly reflecting a greater interest in any information related to this topic having already had a child with CHD.\u003c/p\u003e\u003cp\u003eClinicians were supportive of a specialised genetics education program and mirrored participant preferences in terms of the setting and mode of delivery. They also indicated cardiologists as the most appropriate person to engage in initial discussions about CHD causes and inheritance and for a genetics clinician to provide more detailed information on this. Interestingly, clinicians indicated that the education session should be delivered earlier between the ages of 12\u0026ndash;14 years, suggestive of the relevance at this life stage and an increased confidence in their patients\u0026rsquo; abilities to absorb the information at a younger age.\u003c/p\u003e\u003cp\u003eThe findings of this study support the development of a genetics education program for adolescents with CHD, as follows:\u003c/p\u003e\u003cp\u003e\u003cul\u003e\u003cli\u003e\u003cp\u003eTo deliver a voluntary individual, in-person genetics education program to patients with CHD, built into existing transition clinics and/or cardiac appointments, preferably between the ages of 14\u0026ndash;16 years\u003c/p\u003e\u003c/li\u003e\u003cli\u003e\u003cp\u003eTo have the option of parents/additional family members/support person in attendance at the genetics education program\u003c/p\u003e\u003c/li\u003e\u003cli\u003e\u003cp\u003eTo cover topics including: (1)the causes of CHD, (2)inheritance and recurrence risks of CHD, (3)risk reduction in CHD, (4)available resources and information, and (5) a brief overview of pre-pregnancy planning\u003c/p\u003e\u003c/li\u003e\u003c/ul\u003e\u003c/p\u003e\u003cp\u003eWe acknowledge that these preferences represent those of the study participants and may not consider practical aspects, including resourcing and scalability beyond specialist centers/services. As such, this study also recommends:\u003c/p\u003e\u003cp\u003e\u003cul\u003e\u003cli\u003e\u003cp\u003eOngoing conversations, relevant to life-stage, between cardiologists, parents and young people with CHD about CHD causes and inheritance to reinforce this information over time to ensure retention and relevancy.\u003c/p\u003e\u003c/li\u003e\u003cli\u003e\u003cp\u003eEarlier preliminary discussions on CHD causes and inheritance introduced to adolescents and parents by cardiologists from the ages of 12\u0026ndash;14 years to raise awareness of the topic.\u003c/p\u003e\u003c/li\u003e\u003cli\u003e\u003cp\u003eExploring other avenues, such as e-based options, as alternatives in cases where resources are mis-matched to demand and to address feasibility and scalability.\u003c/p\u003e\u003c/li\u003e\u003cli\u003e\u003cp\u003eOpportunities and resources adolescents can access in future, particularly for topics related to recurrence and pre-pregnancy planning.\u003c/p\u003e\u003c/li\u003e\u003c/ul\u003e\u003c/p\u003e\u003cp\u003eFuture work should focus on the development, implementation, and evaluation of a specialised genetics education program as part of routine cardiac care for adolescents with CHD. While this work and that of others, support an individual, in-person genetics education program, future work should focus on the practicalities, including the allocation and funding of the many resources required, to facilitate this. Acknowledging ideal participant preferences, other avenues, such as e-based options, may need to be explored as alternatives in cases where resources are mis-matched to demand. Finally, further investigation into the effectiveness of genetics education for patients with CHD, particularly in the long term and how this information may inform and promote improved healthcare outcomes, also in terms of family planning, for this patient group will be needed.\u003c/p\u003e\u003cp\u003e\u003cem\u003eLimitations\u003c/em\u003e:\u003c/p\u003e\u003cp\u003eThere are several limitations to consider in this study. As with most surveys, there will be participation bias, with those study participants and clinicians more interested and/or familiar with the survey topic, more likely to participate, than those that aren\u0026rsquo;t. Further, as study participants were recruited during their cardiology appointments, this may have influenced their responses, particularly their understanding of their heart defect. While participants with a broad range of cardiac lesions were recruited to the study, including some with less severe/complex disease, they were recruited from outpatient cardiac clinics typically requiring ongoing care, such that those patients no longer engaging in the service, being excluded. Similarly, while study participants represent a culturally diverse population, representative of the largest tertiary paediatric cardiac centre in New South Wales, the findings are limited to a single institution. Finally, the views and experiences of parent participants, most likely reflect experiences and information received at the time of their child\u0026rsquo;s surgery which may be \u0026gt;\u0026thinsp;17 years ago and therefore, may not reflect current practices and experiences.\u003c/p\u003e"},{"header":"Conclusion","content":"\u003cp\u003eIn summary, adolescents with CHD require an effective transition process, equipping them with the required skills and knowledge to navigate this shift in medical autonomy. Having a sound understanding of the genetic causes of CHD and the associated recurrence risks is key information as they begin to contemplate this. While study limitations including participation and recall bias, need to be acknowledged, the findings of this study support the development of a specialised genetics education program for all adolescents with CHD and provide important insight into the content, timing and delivery of this information.\u003c/p\u003e"},{"header":"Declarations","content":"\u003cp\u003eNone declared\u003c/p\u003e\u003cp\u003e\u003cb\u003eConsent\u003c/b\u003e:\u003c/p\u003e\u003cp\u003eAll participants provided informed consent to participate in this study.\u003c/p\u003e\u003ch2\u003eFunding:\u003c/h2\u003e\u003cp\u003eBRO\u0026rsquo;M is supported by a Postgraduate Scholarship (ID 108330-2024_PGS) from the National Heart Foundation of Australia. GMB is supported by a NSW Health Cardiovascular Research Capacity Program Early-Mid Career Researcher Grant; and a NSW CVRN Career Advancement Grant.\u003c/p\u003e\u003ch2\u003eAuthor Contribution\u003c/h2\u003e\u003cp\u003eG.B developed the study and contributed to data analysis and manuscript preparation. J.S, G.S, J.A contributed to study design and methodology. B.O'M undertook data collation and analysis, manuscript preparation and preparation of figures and tables. All authors reviewed the manuscript.\u003c/p\u003e\u003ch2\u003eAcknowledgement\u003c/h2\u003e\u003cp\u003eThe authors would like to thank all the participants who generously gave their time to complete the survey and provide their valuable insight and unique perspectives.\u003c/p\u003e"},{"header":"References","content":"\u003col\u003e\n\u003cli\u003eAustralian Institute of Health and Welfare. Congenital heart disease in Australia. Canberra: AIHW; 2019.\u003c/li\u003e\n\u003cli\u003eLiu YJ, Chen S, Z\u0026uuml;hlke L, et al. Global birth prevalence of congenital heart defects 1970-2017: updated systematic review and meta-analysis of 260 studies. Int J Epidemiol. 2019;48(2):455-63.\u003c/li\u003e\n\u003cli\u003eLeggat S. The 2011 Childhood Heart Disease in Australia White Paper. Childhood heart disease in Australia: Current Practices and Future Needs. Pennant Hills, NSW, Australia, HeartKids Australia.: A report for HeartKids and Paediatric and Congenital Council of the Cardiac Society of Australia and New Zealand. ; 2011.\u003c/li\u003e\n\u003cli\u003eCelermajer D, Strange G, Cordina R, et al. Congenital Heart Disease Requires a Lifetime Continuum of Care: A Call for a Regional Registry. Heart Lung Circ. 2016;25(8):750-4.\u003c/li\u003e\n\u003cli\u003eBlue GM, Kirk EP, Sholler GF, Harvey RP, Winlaw DS. Congenital heart disease: current knowledge about causes and inheritance. Med J Aust. 2012;197(3):155-9.\u003c/li\u003e\n\u003cli\u003ePierpont ME, Brueckner M, Chung WK, et al. Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association. Circulation. 2018;138(21):e653-e711.\u003c/li\u003e\n\u003cli\u003ede Hosson M, De Groote K, Hecke AV, et al. Evaluation of a nurse-led multi-component transition program for adolescents with congenital heart disease. Patient Educ Couns. 2023;118:108028.\u003c/li\u003e\n\u003cli\u003ede Hosson M, De Groote K, Wynendaele H, Mosquera LM, Goossens E, De Backer J. Preferences for disease-related information and transitional skills among adolescents with congenital heart disease in the early transitional stage. Eur J Pediatr. 2023;182(9):3917-27.\u003c/li\u003e\n\u003cli\u003eMora MA, Sparud-Lundin C, Bratt EL, Moons P. Person-centred transition programme to empower adolescents with congenital heart disease in the transition to adulthood: a study protocol for a hybrid randomised controlled trial (STEPSTONES project). Bmj Open. 2017;7(4).\u003c/li\u003e\n\u003cli\u003eSable C, Foster E, Uzark K, et al. Best practices in managing transition to adulthood for adolescents with congenital heart disease: the transition process and medical and psychosocial issues: a scientific statement from the American Heart Association. Circulation. 2011;123(13):1454-85.\u003c/li\u003e\n\u003cli\u003eBassareo PP, McMahon CJ, Prendiville T, et al. Planning Transition of Care for Adolescents Affected by Congenital Heart Disease: The Irish National Pathway. Pediatr Cardiol. 2023;44(1):24-33.\u003c/li\u003e\n\u003cli\u003eHaberer K, Silversides CK. Congenital Heart Disease and Women\u0026apos;s Health Across the Life Span: Focus on Reproductive Issues. Can J Cardiol. 2019;35(12):1652-63.\u003c/li\u003e\n\u003cli\u003eLondono-Obregon C, Goldmuntz E, Davey BT, Zhang XM, Slap GB, Kim YY. Adult CHD: the ongoing need for physician counselling about heredity and contraceptive options. Cardiology in the Young. 2017;27(4):671-6.\u003c/li\u003e\n\u003cli\u003eCrawford CA, Vujakovich CE, Elmore L, et al. Adolescents with congenital heart defects: a patient and parental perspective of genetic information and genetic risk. Cardiology in the Young. 2020;30(2):219-26.\u003c/li\u003e\n\u003cli\u003eO\u0026apos;Malley BR, Raja N, Blue GM, Winlaw DS, Sholler GF, Congenital Heart Disease Synergy Study G. The CHD severity classification system: development of a tool to assist with disease stratification for CHD research. Cardiol Young. 2024:1-6.\u003c/li\u003e\n\u003cli\u003ede Hosson M, De Groote K, Wynendaele H, Mosquera LM, Goossens E, De Backer J. Preferences for disease-related information and transitional skills among adolescents with congenital heart disease in the early transitional stage. European Journal of Pediatrics. 2023;182(9):3917-27.\u003c/li\u003e\n\u003cli\u003eVan Deyk K, Pelgrims E, Troost E, et al. Adolescents\u0026apos; understanding of their congenital heart disease on transfer to adult-focused care. Am J Cardiol. 2010;106(12):1803-7.\u003c/li\u003e\n\u003cli\u003eKasparian NA, Fidock B, Sholler GF, et al. Parents\u0026apos; perceptions of genetics services for congenital heart disease: the role of demographic, clinical, and psychological factors in determining service attendance. Genetics in Medicine. 2014;16(6):460-8.\u003c/li\u003e\n\u003c/ol\u003e"},{"header":"Table 1","content":"\u003cp\u003eTable 1 is available in the Supplementary Files section.\u003c/p\u003e"}],"fulltextSource":"","fullText":"","funders":[],"hasAdminPriorityOnWorkflow":false,"hasManuscriptDocX":true,"hasOptedInToPreprint":true,"hasPassedJournalQc":"","hasAnyPriority":false,"hideJournal":false,"highlight":"","institution":"","isAcceptedByJournal":true,"isAuthorSuppliedPdf":false,"isDeskRejected":"","isHiddenFromSearch":false,"isInQc":false,"isInWorkflow":false,"isPdf":false,"isPdfUpToDate":true,"isWithdrawnOrRetracted":false,"journal":{"display":true,"email":"[email protected]","identity":"pediatric-cardiology","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":false,"externalIdentity":"pedc","sideBox":"Learn more about [Pediatric Cardiology](http://link.springer.com/journal/246)","snPcode":"246","submissionUrl":"https://submission.nature.com/new-submission/246/3","title":"Pediatric Cardiology","twitterHandle":"","acdcEnabled":true,"dfaEnabled":true,"editorialSystem":"em","reportingPortfolio":"Springer Hybrid","inReviewEnabled":true,"inReviewRevisionsEnabled":false},"keywords":"Congenital Heart Disease, Adolescents, Education, Genetics, Recurrence","lastPublishedDoi":"10.21203/rs.3.rs-7191712/v1","lastPublishedDoiUrl":"https://doi.org/10.21203/rs.3.rs-7191712/v1","license":{"name":"CC BY 4.0","url":"https://creativecommons.org/licenses/by/4.0/"},"manuscriptAbstract":"\u003ch2\u003eBackground:\u003c/h2\u003e\u003cp\u003eImprovements in outcomes for congenital heart disease (CHD) have resulted in a growing adolescent/adult CHD population. Subsequently, education on CHD causes and inheritance has been identified as important. This study aimed to determine population-specific understanding and preferences of CHD causes and inheritance education.\u003c/p\u003e\u003ch2\u003eMethods:\u003c/h2\u003e\u003cp\u003eCHD adolescents aged 13\u0026ndash;18 years, their parent, and clinicians involved in the care of patients with CHD completed a purpose-designed, online survey outlining their current understanding of CHD genetics and inheritance and their preferences for education content and delivery.\u003c/p\u003e\u003ch2\u003eResults:\u003c/h2\u003e\u003cp\u003eApproximately 50% of participants were unsure if CHD was caused by genetic factors, and 25% believed CHD was not genetic. Many participants (63%(19/30) adolescents, 81%(26/32) parents) wanted to know more about CHD causes, with most considering this important. Over 60% of participants indicated that CHD causes had not been discussed with them, despite 74% of clinicians (17/23) indicating they discuss this. Information on genetic causes of CHD and recurrence risks, delivered in-person with parents present, was the preferred option for the content and delivery of this information. Most clinicians indicated genetics education should be introduced between 12\u0026ndash;14 years, whereas adolescents and parents preferred this to occur between 14\u0026ndash;16 years.\u003c/p\u003e\u003ch2\u003eConclusion:\u003c/h2\u003e\u003cp\u003eParticipants want to know more about CHD causes and inheritance, in an outpatient setting with parents in attendance. The findings of this study support the development of a specialised genetics education program about CHD causes and inheritance for adolescents with CHD. Further, it provides important insight into the content, timing and delivery of this information.\u003c/p\u003e","manuscriptTitle":"Genetic Health Education in Adolescents with Congenital Heart Disease: A Patient, Parent and Clinician Perspective","msid":"","msnumber":"","nonDraftVersions":[{"code":1,"date":"2025-07-28 11:48:47","doi":"10.21203/rs.3.rs-7191712/v1","editorialEvents":[{"type":"communityComments","content":0},{"type":"decision","content":"Revision requested","date":"2025-07-31T01:16:02+00:00","index":"","fulltext":""},{"type":"editorInvitedReview","content":"","date":"2025-07-30T15:39:50+00:00","index":"hide","fulltext":""},{"type":"reviewerAgreed","content":"150757411616201764870819942207133644364","date":"2025-07-29T15:00:13+00:00","index":"hide","fulltext":""},{"type":"editorInvitedReview","content":"","date":"2025-07-29T13:49:31+00:00","index":"hide","fulltext":""},{"type":"editorInvitedReview","content":"","date":"2025-07-28T21:57:04+00:00","index":"hide","fulltext":""},{"type":"reviewerAgreed","content":"52269465911781271622916975027234756202","date":"2025-07-28T21:15:49+00:00","index":"hide","fulltext":""},{"type":"reviewerAgreed","content":"48570365522308370344653321793242801793","date":"2025-07-28T13:53:57+00:00","index":"hide","fulltext":""},{"type":"reviewerAgreed","content":"77516003595894534158293500935495037183","date":"2025-07-25T13:02:25+00:00","index":"hide","fulltext":""},{"type":"reviewerAgreed","content":"24468842114088935194497049651298438822","date":"2025-07-24T13:31:16+00:00","index":"hide","fulltext":""},{"type":"reviewerAgreed","content":"13761432657025709237821054513173335833","date":"2025-07-24T13:09:16+00:00","index":"hide","fulltext":""},{"type":"reviewerAgreed","content":"172220315250158112315682352184017652192","date":"2025-07-24T12:50:21+00:00","index":"hide","fulltext":""},{"type":"reviewersInvited","content":"","date":"2025-07-24T05:27:31+00:00","index":"","fulltext":""},{"type":"editorAssigned","content":"","date":"2025-07-23T11:44:27+00:00","index":"","fulltext":""},{"type":"checksComplete","content":"","date":"2025-07-23T11:43:57+00:00","index":"","fulltext":""},{"type":"submitted","content":"Pediatric Cardiology","date":"2025-07-23T03:32:55+00:00","index":"","fulltext":""}],"status":"published","journal":{"display":true,"email":"[email protected]","identity":"pediatric-cardiology","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":false,"externalIdentity":"pedc","sideBox":"Learn more about [Pediatric Cardiology](http://link.springer.com/journal/246)","snPcode":"246","submissionUrl":"https://submission.nature.com/new-submission/246/3","title":"Pediatric Cardiology","twitterHandle":"","acdcEnabled":true,"dfaEnabled":true,"editorialSystem":"em","reportingPortfolio":"Springer Hybrid","inReviewEnabled":true,"inReviewRevisionsEnabled":false}}],"origin":"","ownerIdentity":"b18c6410-119b-48be-9ad2-65c507c56b61","owner":[],"postedDate":"July 28th, 2025","published":true,"recentEditorialEvents":[],"rejectedJournal":[],"revision":"","amendment":"","status":"published-in-journal","subjectAreas":[],"tags":[],"updatedAt":"2025-09-22T15:58:06+00:00","versionOfRecord":{"articleIdentity":"rs-7191712","link":"https://doi.org/10.1007/s00246-025-04010-4","journal":{"identity":"pediatric-cardiology","isVorOnly":false,"title":"Pediatric Cardiology"},"publishedOn":"2025-09-16 15:56:50","publishedOnDateReadable":"September 16th, 2025"},"versionCreatedAt":"2025-07-28 11:48:47","video":"","vorDoi":"10.1007/s00246-025-04010-4","vorDoiUrl":"https://doi.org/10.1007/s00246-025-04010-4","workflowStages":[]},"version":"v1","identity":"rs-7191712","journalConfig":"researchsquare"},"__N_SSP":true},"page":"/article/[identity]/[[...version]]","query":{"redirect":"/article/rs-7191712","identity":"rs-7191712","version":["v1"]},"buildId":"8U1c8b4HqxoKbykW_rLl7","isFallback":false,"isExperimentalCompile":false,"dynamicIds":[84888],"gssp":true,"scriptLoader":[]}