Long-QT syndrome

Molecular autopsy finds that a genetic heart condition may be the cause of many unexplained drownings

ROCHESTER, MINN. -- According to a study by Mayo Clinic pediatric cardiology and pathology specialists published in this week's edition of New England Journal of Medicine, a genetic defect known as long-QT syndrome may be the cause of many unexplained drownings.

Drowning kills more than 4,000 children and young adults each year. Drowning is second only to motor vehicle accidents as the leading causes of accidental death in children and young adults. Many drownings are attributed to lack of supervision, alcohol or drug abuse, trauma and seizures. However, each year, more than 400 drownings involving children and young adults have no explanation.

"The study proves for the first time that an unexplained drowning could be caused by a genetic defect that affects the heart's rhythm," says Michael Ackerman, M.D., Ph.D., a Mayo Clinic pediatric cardiologist and principal investigator of the study. "In a case study of a 19-year-old woman who died after a near-drowning, we were able to prove through molecular testing, that she had long-QT syndrome. And since the genetic defect runs in families, we were able to test family members and offer preventive treatment to other family members who also have the defect."

Long-QT syndrome is a genetic condition that affects the heart's electrical system. In patients with long-QT syndrome, the heart takes longer to reset, or re-charge itself between each beat. Usually, patients have no problem with this condition, but certain triggers like swimming, intense physical exertion, or being suddenly startled or frightened can set it off, causing fainting spells, seizures or even death from a fatal heart rhythm called ventricular fibrillation.

Dr. Ackerman and his colleagues investigated the cause of death of the 19-year-

Contact: Chris Gade
Mayo Clinic

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