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SUDDEN cardiac death in young people (under the age of 50 years) is a devastating event that often occurs out of the blue, without any prior symptoms and in otherwise fit and healthy people.
The stories retold by the families are heartbreaking. A primary school-aged girl who was found deceased in her bed by her sibling when she didn’t come out for breakfast. An adolescent boy who came off his bike while riding home from a friend’s house and was discovered by his parents when he failed to arrive home. A young man who collapsed in front of his family and friends at a party, including prolonged resuscitation efforts while his young children stood watching.
When sudden cardiac death occurs in young people, the cause is often considered to be genetic. For the family, at a time when there is profound grief and trauma, they must also consider the potential heritable consequences, including navigating clinical screening of at-risk relatives and genetic testing options that may shed light on the underlying cause of disease.
Australia is a world leader in research to understand sudden cardiac death in the young (here and here), but also in establishing best practices for post mortem investigation, sample collection and storage, and referral to specialist cardiac genetic clinics.
In this article, we outline the key things clinicians should know when seeing a family that has experienced a young sudden cardiac death.
Sudden cardiac arrest in young people
Sudden cardiac arrest is tragically common, affecting approximately 3000 young Australians per year with 90% mortality. In those under 50 years of age, the most common cause is coronary artery disease; when the lens is narrowed to those under 35 years, the most common cause becomes “unascertained cause of arrest”, which in many cases is confirmed or suspected to be genetic in nature.
Implications for the family
Given many causes of sudden cardiac death in young people can be inherited, investigation of the family is important. We typically suspect inherited arrhythmias and cardiomyopathies in this setting. Most of these diseases are autosomal dominantly inherited, that is, first degree relatives have a one in two or 50% risk of inheriting the genetic variant and are recommended to undergo evaluation with a cardiologist. Recent international expert consensus recommendations outline that this may entail physical examination, electrocardiograms, cardiac imaging, ambulatory monitoring and/or provocative testing in the context of a specialised multidisciplinary clinic.
If an inherited cause is suspected, genetic testing can be very helpful in identifying the genetic variant causing disease. Genetic testing is widely available and includes analysis of genes known to be associated with inherited arrhythmias and cardiomyopathies. After informed consent, a post mortem DNA sample from the decedent is obtained and sent to a clinical testing laboratory. Any rare variants identified will be curated and included in the genetic report.
Genetic testing can be difficult to navigate and comprehend, especially for families grieving the sudden cardiac death of a young relative. Access to genetic counselling, especially pre- and post-test genetic counselling, is a critical aspect of internationally recommended management and care following a young sudden cardiac death. In Australia, genetic counsellors can be identified via the Centre for Genetics Education.
A key challenge of genetic testing is the difficulty in ascertaining which genetic variant is causative. We know that rare variants in genes are collectively common, and even if we were to sequence our own DNA, we would find rare alterations to this sequence. Therefore, it is tricky to determine which genetic variants are disease-causing and which are benign and just part of our unique genetic make-up.
Important disparities exist in genetic testing outcomes based on patient ancestry. Due to the almost exclusive focus on white European research participants in the past, we recognise that our ability to correctly interpret genetic variants in people from more diverse ancestry groups is limited, leading to lower diagnostic yield and greater risk of misclassification. Efforts in Australia and worldwide to increase diversity in genomic research are focused on addressing this. For these reasons, expertise in cardiac genetics is really critical for those interpreting genetic variants in this setting.
If a genetic variant causing an inherited cardiac disease is identified, this is helpful in two ways:
- it provides a likely cause of death, giving the family answers about why their loved one died; and
- it enables cascade genetic testing options for family members to test for the presence or absence of the genetic variant in their DNA. Identifying the genetic variant does not mean they have the disease (as not everyone with a causative genetic variant will develop disease), but the person should be monitored by a cardiologist and, importantly, their children have a one in two risk of inheriting the genetic variant. Those shown not to carry the genetic variant no longer need clinical screening and cannot pass this on to their children.
Psychological impact and support
Families are confronted with navigating numerous challenges simultaneously. In addition to grief and coping with the traumatic and sudden loss of their loved one, they must also navigate the clinical and genetic testing process as well as issues of uncertainty. This often elicits fear and anxiety about both their own, and other family members, health.
To our knowledge, we were the first group in the world to show the significant and ongoing psychological impact of experiencing the sudden cardiac death of a young relative, with almost 50% of first degree relatives of the decedent experiencing clinically significant post-traumatic stress symptoms and/or prolonged grief, on average 6 years after the death. Family members who discovered the deceased’s body, or witnessed the event, were four to five times more likely to have poor psychological outcomes compared with those relatives who did not witness or discover the deceased.
Since this work was published, we have routinely encouraged family members to seek psychological support and this is now part of international recommendations. A subsequent needs analysis with parents who had lost a child to sudden cardiac death identified medical and psychological information and support as needs that were highly endorsed, ranked of high importance, yet remained unmet in a considerable proportion of families. Further work to codesign a support intervention for these families is currently underway.
How can we better support families?
Our most recent work, published on medRxiv and yet to be peer reviewed, reports qualitative interviews with 18 family members who have attended a specialised clinic in Sydney following a young sudden cardiac death in their family, and focuses on their experiences with clinical and genetic testing and psychological support. Our findings enable us to consider how we could better support families after a young sudden cardiac death, with some of the key points summarised below:
- For most families, there is an overwhelming need to understand why the death has occurred. This includes a strong willingness to pursue post mortem genetic testing.
- Identifying a genetic cause of disease often led to reassurance, relief and empowerment. For some, a positive result diminished their guilt that they had missed an important sign of cardiac disease.
- Managing expectations of the low diagnostic yield (~20%) of genetic testing in this setting was critical.
- Waiting times were consistently mentioned as difficult for families, including delays with post mortem reports, clinic appointments and genetic test results. We should try to minimise delays where possible.
- Timely and accessible information about what sudden cardiac death in the young is, and the advice for the family, is lacking. Families felt frustrated trying to get this information from the internet and other places.
- Psychological support needs were largely unmet, especially in the community.
- Insensitivity or lack of understanding by health professionals not knowledgeable about sudden cardiac death in the young were seen as unhelpful.
- There is a critical lack of coordination of care after a young sudden cardiac death, with many participants describing frustration in not being given details of the specialist clinic and having to find this information themselves. Many reported a need to be proactive in seeking out this information.
Resources for families
More research and support are needed for families who experience a devastating sudden cardiac death of a young relative. End Unexplained Cardiac Death is a national charity established to understand why these deaths occur. Families can find information about sudden cardiac death in the young at their website.
Associate Professor Jodie Ingles is Head of the Clinical Genomics Laboratory at Centre for Population Genomics, the Garvan Institute of Medical Research and Murdoch Children’s Research Institute. She is a cardiac genetic counsellor at Royal Prince Alfred Hospital.
Laura Yeates is a PhD candidate at the University of Sydney, and a cardiac genetic counsellor at Royal Prince Alfred Hospital.
Dr Elizabeth Paratz is a cardiologist in the Department of Sports Cardiology at the Baker Heart and Diabetes Institute in Melbourne.
Dr Leesa Adlard is a clinical psychologist within the Department of Cardiology at Royal Prince Alfred Hospital
The statements or opinions expressed in this article reflect the views of the authors and do not necessarily represent the official policy of the AMA, the MJA or InSight+ unless so stated.
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