by Tom Avril
When an Amish child fainted after running around outside, the family’s physician was stumped. Results from an electrocardiogram and exercise stress test were normal, and no other cause was apparent. But a few years later at age 12 — again while engaged in everyday physical activity — the child died of sudden cardiac arrest. And within months, a 10-year-old sibling died in similar fashion. Over more than a decade, an additional 16 children from two extended Amish families would die before researchers pinpointed the culprit: a rare genetic mutation. The details were described this month in a study led by the Mayo Clinic, along with researchers from the Alfred I. DuPont Hospital for Children in Wilmington and other institutions. Five more children with the inherited heart defect have been identified, though so far they have survived — in one case after receiving CPR, the authors wrote in JAMA Cardiology.
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Context: Researchers used post-mortem genetic testing to find the underlying cause of multiple sudden deaths in young people and sudden cardiac arrests in two large Amish families.
Using an exome molecular autopsy, Michael Ackerman, M.D., Ph.D., and his associates conducted genetic testing of four siblings who each died suddenly during exercise. Dr. Ackerman is a genetic cardiologist and director of the Windland Smith Rice Comprehensive Sudden Cardiac Death Program at Mayo Clinic. The findings are published in JAMA Cardiology. Dr. Ackerman is the senior author.
You can learn more about the research on Mayo Clinic News Network.
Contact: Terri Malloy