Molecular autopsy and sudden cardiac death in the young.

Abstract

Sudden cardiac death is defined as sudden death due to a confirmed cardiovascular disease or when there is no explanation after medico-legal autopsy and arrhythmogenic, possibly hereditary etiology is presumed. Molecular autopsy should be indicated in all cases of sudden cardiac death due to suspected cardiomyopathy and hereditary arrhythmic syndrome. It should also be considered in thoracic aortic dissection. These hereditary cardiovascular diseases account for the majority of sudden cardiac death cases in the young up to 40 years of age. They are mostly inherited in an autosomal dominant manner carrying a 50% risk of passing the diasease-causing mutation to the offspring. In fact, all first-degree relatives have a high risk of developing the disease associated with sudden cardiac death. Hence, knowledge of the exact cause of death derived from molecular autopsy combined with a cardiologic and targeted genetic examination of first-degree relatives may help us detect other at risk family members and provides us with an opportunity to prevent further sudden deaths in the family by means of timely preventive measures. Forensic pathologists play a key role in this process of primary prevention of sudden death. They should retain tissue samples for DNA analysis whenever a hereditary cardiovascular disease is suspected. They should also recommend to the relatives a thorough cardiogenetic examination at one of the specialized centres. A multipdisciplinary team including cardiologists, geneticists, psychologists, forensic pathologists and coroners should be involved in the investigation of sudden cardiac death in the young.