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Genetic testing helps identify causes of sudden cardiac death in children, young adults
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The addition of genetic testing to the autopsy investigation may better identify possible causes of sudden cardiac death in children and young adults, according to data published in The New England Journal of Medicine.
Researchers conducted a prospective analysis of premorbid and autopsy investigation data on children and young adults who experienced sudden cardiac death between 2010 and 2012 in Australia and New Zealand.
According to the results, 490 individuals aged 1 to 35 years experienced sudden cardiac death, and of these, 198 (40%) were unexplained. Incidence of sudden cardiac death (3.2 cases per 100,000 persons per year) was higher in individuals aged 31 to 35 years, but individuals aged 16 to 20 years had the greatest incidence of unexplained sudden cardiac death (0.8 cases per 100,000 persons per year).
The most common finding at autopsy was unexplained sudden cardiac death (40%), followed by CAD (24%) and inherited cardiomyopathies (16%). Myocarditis accounted for 7% and aortic dissection for 4% of the deaths.
Sudden cardiac death most often occurred while the individual was sleeping (38%) or at rest (27%) and more often at night, according to the researchers.
“This observation raises questions about the efficacy of limiting physical activity as a means of reducing the risk of sudden death among children and young adults, as is sometimes recommended for competitive athletes,” Richard D. Bagnall, PhD, from the Agnes Ginges Center for Molecular Cardiology, Centenary Institute, and Sydney Medical School, University of Sydney, and colleagues wrote.
Instead, they wrote, more focus is needed on why sudden cardiac death occurs most often when a person is at rest or sleeping.
Of the 198 individuals who experienced unexplained sudden cardiac death, the families of 113 gave permission for genetic testing to be performed, and of them, a relevant cardiac gene mutation was identified in 31 (27%) of the unexplained sudden cardiac deaths, according to the researchers.
Twelve of the 91 families who underwent clinical screening were given a definite clinical diagnosis, including long QT syndrome (n = 4), catecholaminergic polymorphic ventricular tachycardia (n = 1), primary conduction disease (n = 1) and arrhythmogenic right ventricular cardiomyopathy (n = 2).
“Autopsy investigation combined with genetic testing and family screening was associated with a substantially higher likelihood of identifying a possible cause of sudden cardiac death among children and young adults than did autopsy investigation alone,” the researchers wrote. – by Tracey Romero
Disclosure: Bagnall reports no relevant financial disclosures. Please see the full study for list of all other researchers’ relevant financial disclosures.
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