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Genetic Testing Helps Identify Causes of Sudden Cardiac Death

Clinically relevant gene mutations identified in 27 percent of cases of unexplained sudden cardiac death

THURSDAY, June 23, 2016 (HealthDay News) — Genetic testing can increase the identification of a possible cause of sudden cardiac death in children and young adults, according to a study published in the June 23 issue of the New England Journal of Medicine.

Richard D. Bagnall, Ph.D., from the University of Sydney, and colleagues conducted a prospective study of all cases of sudden cardiac death among children and young adults aged 1 to 35 years in Australia and New Zealand. At least 59 cardiac genes were analyzed in cases that had no cause identified after a comprehensive autopsy.

The researchers identified 490 cases of sudden cardiac death. The annual incidence was 1.3 cases per 100,000 persons; 72 percent involved males. The highest incidence of sudden cardiac death was seen for those aged 31 to 35 years (3.2 cases per 100,000 persons/year), while the highest incidence of unexplained sudden cardiac death was seen for those aged 16 to 20 years (0.8 cases per 100,000 persons/year). Coronary artery disease and inherited cardiomyopathies were the most common explained causes of sudden cardiac death (24 and 16 percent of cases, respectively). In 27 percent of unexplained sudden cardiac death in which genetic testing was performed, a clinically relevant cardiac gene mutation was identified.

“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,” the authors write.

Two authors disclosed financial ties to the pharmaceutical, medical technology, and medical device industries.

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