Home > Uncategorized > Genetic testing in children and young adults with Sudden Cardiac Death

Genetic testing in children and young adults with Sudden Cardiac Death

Bagnall et al report a prospective study of sudden cardiac death in children and young adults. The use of genetic testing for unexplained cases is described.

Summary

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.

Excerpts

NB: look at genetic findings

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