Molecular autopsy: A contributory tool in the medicolegal investigations

Abstract

Sudden death is defined as death of an individual who appears healthy and dies suddenly within a few minutes or several hours due to pre-existing disease or functional disorder. Significant proportions of sudden deaths are unexplained, with no abnormalities identified after full conventional autopsy in approximately 18% of cases and classified as sudden unexplained deaths which further divided into sudden non-cardiac deaths and sudden cardiac deaths. Sudden death among individuals aged <50 years was caused by non-cardiac diseases in 28% of cases which related to central nervous system (ruptured brain aneurysm, cerebral hemorrhage, cerebral thrombosis and infarction), respiratory system (pulmonary embolism, chemical inhalation, reactive airways dysfunction syndrome and irritant-induced asthma, acute respiratory distress syndrome), gastrointestinal tract (bleeding, perforation and acute gastroenteritis), genitourinary system, endocrine disorders (adrenal insufficiency, dysgenesis and destruction, and impaired steroidogenesis), leptospirosis, epilepsy, malaria, shock, concelaed trauma. Cardiac diseases are the most common cause of an unexpected sudden death in all age groups. Sudden cardiac death with structural cardiac abnormalities includes coronary artery disease, hypertensive heart disease, and primary myocardial disease which are detected at autopsy in approximately 40 to 45% of cases. On the other hand, some cases have no structural abnormalities such as long QT syndrome, brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, sick sinus syndrome, cardiac conduction disease, and overlap syndromes in these cases conventional medicolegal autopsy is of no benefit. In recent years, the contribution of molecular biology assays to investigate sudden unexplained juvenile death has allowed to clarify some of the pathogenic aspects of such deaths and from the clinical point of view enabling preventive actions on the relatives of the deceased. This will create links between clinicians and forensic and molecular investigators.