O'Malley Bridget R, Smith Janine, Sholler Gary F, Ayer Julian, Blue Gillian M
The Heart Centre for Children, Sydney Children's Hospitals Network, Sydney, NSW, 2145, Australia.
The Faculty of Medicine and Health, The University of Sydney, Sydney, Australia.
Pediatr Cardiol. 2025 Sep 16. doi: 10.1007/s00246-025-04010-4.
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. 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. 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 and 14 years, whereas adolescents and parents preferred this to occur between 14 and 16 years. 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 specialized 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.
先天性心脏病（CHD）治疗效果的改善导致青少年/成年CHD患者群体不断增加。随后，关于CHD病因和遗传的教育被认为很重要。本研究旨在确定特定人群对CHD病因和遗传教育的理解及偏好。13至18岁的CHD青少年、他们的父母以及参与CHD患者护理的临床医生完成了一项专门设计的在线调查，概述了他们目前对CHD遗传学和遗传的理解以及他们对教育内容和授课方式的偏好。约50%的参与者不确定CHD是否由遗传因素引起，25%的人认为CHD不是遗传性的。许多参与者（63%（19/30）的青少年、81%（26/32）的父母）想更多地了解CHD病因，大多数人认为这很重要。超过60%的参与者表示未与他们讨论过CHD病因，尽管74%的临床医生（17/23）表示他们会讨论这一问题。在有父母在场的情况下亲自提供关于CHD遗传病因和复发风险的信息，是提供该信息的内容和方式的首选。大多数临床医生表示，遗传学教育应在12至14岁之间开展，而青少年和父母则更倾向于在14至16岁之间进行。参与者希望在有父母陪同的门诊环境中更多地了解CHD病因和遗传。本研究结果支持为患有CHD的青少年制定一个关于CHD病因和遗传的专门遗传学教育项目。此外，它为该信息的内容、时机和提供方式提供了重要见解。
