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Forensic Medicine · Thanatology: molecular autopsy
Sample itemA 16-year-old girl collapses and dies at the edge of a swimming pool. A sister had earlier fainted during exercise. Autopsy shows a structurally normal heart, no water in the lungs and a negative toxicology screen. What is the most useful next step to find the cause?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
A. Genetic testing for inherited cardiac channelopathies on stored blood or tissue
When a young person dies suddenly with a normal heart and negative toxicology, an inherited arrhythmia syndrome such as long QT syndrome is a leading cause. A molecular autopsy, with genetic testing on preserved blood or tissue, can identify it and also allows screening of surviving relatives. The faint of a sibling during exercise supports this.
Option by option
A. Genetic testing for inherited cardiac channelopathies on stored blood or tissue (correct)
Correct. Molecular testing for channelopathies can reveal the cause and protect relatives.
B. Bacterial culture of heart blood
Culture of heart blood looks for sepsis, which does not fit the collapse during exercise.
C. Neuropathological examination of the spinal cord
The spinal cord is not the likely site of pathology in a sudden arrhythmic death.
D. Repeating the toxicology screen with a second immunoassay
A repeat immunoassay adds little when the screen is already negative and the history points to arrhythmia.
Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.
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