A standardized autopsy protocol incorporating molecular, genetic, and toxicological testing is crucial for determining the cause of sudden death and guiding screening for at-risk relatives.
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May support molecular-inclusive autopsies for sudden death workup; leaves open prospective validation of family screening impact.
The role of the autopsy: 1) Whether the death is ascribable to a natural or unnatural cause and when natural, if cardiac or extra-cardiac; 2) The nosology of the cardiac diseases and the mechanism of cardiac death, whether arrhythmic or mechanical; 3) If the cardiac disease is inherited, screening and counselling of the next of kin is required. About 30% of sudden deaths is ascribable to genetically determined morbid entities, mostly transmissible with the autosomal dominant pattern of inheritance, so that 50% of the first degree relatives are genetically affected (“carriers”) and exposed at risk; 4) If toxic or illicit drug abuse was involved.
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Thiene et al. (2024) studied this question.
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