Sudden Cardiac Death in Children and Young Adults
What is the incidence and etiology of sudden cardiac death (SCD) in patients 1-35 years of age, as determined by comprehensive autopsy examination and genetic testing?
A prospective study was performed of all cases of sudden death among children and young adults in Australia and New Zealand between 2010 and 2012. In cases that had no cause identified after a comprehensive autopsy including toxicologic and histologic studies, at least 59 cardiac genes were analyzed for a clinically relevant cardiac gene mutation.
A total of 490 cases of SCD were identified in young adults ages 1-35 in Australia and New Zealand between 2010 and 2012, with a majority (72%) occurring in males. Of the 490 cases, 292 were explained. Of the 198 unexplained deaths, 113 had next-of-kin permission to obtain blood samples and had available DNA. The annual incidence was 1.3 cases per 100,000 persons in the age range of the study. Persons 31-35 years of age had the highest incidence of SCD (3.2 cases per 100,000 persons per year), with coronary artery disease becoming an important factor in the older patients. Persons 16-20 years of age had the highest incidence of unexplained SCD (0.8 cases per 100,000 persons per year). Younger age and death at night were independently associated with unexplained SCD as compared with explained SCD. A clinically relevant cardiac gene mutation was identified in 31 of 113 cases (27%) of unexplained SCD.
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.
This study demonstrates the additive value of post-mortem genetic testing in identifying the cause of death in young patients with SCD. While a great deal of attention is given to sudden death with exertion, this study showed that the majority of SCD occurs during times of sleep or rest as compared with exercise. An additional benefit of genetic testing in this situation is that it allows for the potential identification of inherited cardiovascular disease in surviving family members.
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