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Molecular autopsy detects genetic defects

ROCHESTER, N.Y., Feb. 2 (UPI) -- Postmortem genetic testing -- molecular autopsy -- has been found to detect genetic defects that impair the heart's rhythm center, say U.S. researchers.

Conventional autopsies found no cause of death for 49 young people who died suddenly and inexplicably at an average age of 14, but using molecular autopsy Mayo Clinic researchers found that more than one-third died due to potentially heritable genetic defects.

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The defects were caused by mutations, which can be thought of as spelling errors in the genetic code. The defects produced one of two abnormal heart rhythm conditions: long QT syndrome and catecholaminergic polymorphic ventricular tachycardia, according to study leader Michael J. Ackerman.

Both syndromes can declare their presence silently and catastrophically with a sudden-death episode as the first symptom. Because they leave no structural or physical clues, the defects can't be detected with conventional autopsy methods -- so families have been left with the additional grief of wondering what caused the premature death.

The findings are published in the Journal of the American College of Cardiology.

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