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A Prospective Study of Sudden Cardiac Death among Children and Young Adults
Richard D Bagnall1, Robert G Weintraub1, Jodie Ingles1
1From the Agnes Ginges Center for Molecular Cardiology, Centenary Institute, University of Sydney (R.D.B., J.I., L.Y., L.L., C.S.), Sydney Medical School, University of Sydney (R.D.B., J.I., J.D., R.P., C.S.), Department of Forensic Medicine, NSW Health Pathology (J.D.), and Department of Cardiology, Royal Prince Alfred Hospital (J.I., L.Y., R.P., C.S.), Sydney, the Department of Cardiology, Royal Children's Hospital, Murdoch Children's Research Institute and University of Melbourne (R.G.W., A.M.D., V.C., D.S.), Departments of Pediatrics (A.M.D.) and Pathology (P.J.), University of Melbourne, Genetic Medicine, Royal Melbourne Hospital (T.T., P.J., J.V., I.W.), Department of Medicine, Royal Melbourne Hospital, University of Melbourne (J.V., I.W.), and Victorian Institute of Forensic Medicine (M.L., N.M.), Melbourne, VIC, Forensic and Scientific Services, Archerfield, QL (J.W., C.N.), University of Queensland (J.W., C.N.), and Royal Brisbane and Women's Hospital (J.A., J.M.), Brisbane, QL, Department of Forensic Pathology, PathWest, Fremantle, WA (J.W.), ACT Pathology, Canberra Hospital, Canberra, ACT (L.H.), Royal Hobart Hospital, University of Tasmania, Hobart, TAS (C.L.), and the Attorney General's Department, University of Adelaide, Adelaide, SA (N.L.) - all in Australia; and Green Lane Pediatric and Congenital Cardiac Services, Starship Children's Hospital (J.C., J.R.S.), LabPLUS, Auckland City Hospital (D.L.), and the Department of Child Health, University of Auckland (J.R.S.), Auckland, New Zealand.
Insights
Sudden cardiac death in young people is often unexplained. Genetic testing after autopsy significantly increases the chances of finding a cause, revealing inherited heart conditions in families.
Area of Science:
- Cardiology
- Genetics
- Forensic Pathology
Background:
- Sudden cardiac death (SCD) in children and young adults is a critical public health concern.
- A significant proportion of SCD cases remain unexplained after standard autopsy.
Purpose of the Study:
- To investigate the incidence and causes of SCD in individuals aged 1-35 years in Australia and New Zealand.
- To evaluate the effectiveness of genetic testing in identifying the cause of unexplained SCD.
Main Methods:
- Prospective collection of clinical, demographic, and autopsy data for SCD cases from 2010-2012.
- Comprehensive autopsy including toxicology and histology.
- Genetic analysis of at least 59 cardiac genes for mutations in unexplained SCD cases.
Main Results:
- Identified 490 SCD cases with an annual incidence of 1.3 per 100,000.
- Coronary artery disease (24%) and inherited cardiomyopathies (16%) were leading explained causes.
- Unexplained SCD accounted for 40% of cases; genetic testing identified mutations in 27% of these.
- Inherited cardiovascular disease was diagnosed in 13% of families with unexplained SCD.
Conclusions:
- Genetic testing significantly enhances the diagnostic yield for SCD in young individuals.
- This approach aids in identifying inherited cardiovascular diseases within families, enabling preventative strategies.
Background:
Sudden cardiac death among children and young adults is a devastating event. We performed a prospective, population-based, clinical and genetic study of sudden cardiac death among children and young adults.
Methods:
We prospectively collected clinical, demographic, and autopsy information on all cases of sudden cardiac death among children and young adults 1 to 35 years of age in Australia and New Zealand from 2010 through 2012. In cases that had no cause identified after a comprehensive autopsy that included toxicologic and histologic studies (unexplained sudden cardiac death), at least 59 cardiac genes were analyzed for a clinically relevant cardiac gene mutation.
Results:
A total of 490 cases of sudden cardiac death were identified. The annual incidence was 1.3 cases per 100,000 persons 1 to 35 years of age; 72% of the cases involved boys or young men. Persons 31 to 35 years of age had the highest incidence of sudden cardiac death (3.2 cases per 100,000 persons per year), and persons 16 to 20 years of age had the highest incidence of unexplained sudden cardiac death (0.8 cases per 100,000 persons per year). The most common explained causes of sudden cardiac death were coronary artery disease (24% of cases) and inherited cardiomyopathies (16% of cases). Unexplained sudden cardiac death (40% of cases) was the predominant finding among persons in all age groups, except for those 31 to 35 years of age, for whom coronary artery disease was the most common finding. Younger age and death at night were independently associated with unexplained sudden cardiac death as compared with explained sudden cardiac death. A clinically relevant cardiac gene mutation was identified in 31 of 113 cases (27%) of unexplained sudden cardiac death in which genetic testing was performed. During follow-up, a clinical diagnosis of an inherited cardiovascular disease was identified in 13% of the families in which an unexplained sudden cardiac death occurred.
Conclusions:
The addition of genetic testing to autopsy investigation substantially increased the identification of a possible cause of sudden cardiac death among children and young adults. (Funded by the National Health and Medical Research Council of Australia and others.).
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