Sudden cardiac death in the young. From gross to molecular autopsy

Abstract

Sudden Cardiac Death (SCD) may complicate diseases of the heart and great vessels. The cause is easily visible at the naked eye at autopsy in the presence of coronary thrombosis, aortic dissection, pulmonary thromboembolism, or at the microscope with histological anomalies (inflammation, necrosis, storage, fibrosis). However, there are cases of SCD in which the heart appears normal, both at gross and histological examination. They may present electrocardiogram (ECG) disorders of depolarization and repolarization of myocardial electrical activity (long and short QT, repolarization syndrome) or of electro-mechanical coupling (catecholaminergic ventricular tachycardia), due to alterations of Na+, K+or Ca++ flows, known as channelopathies. They are genetic, hereditary morbid entities transmitted at the time of conception. Molecular studies of SCD at autopsy include both the detection of viral genomes in inflammatory cardiomyopathies and gene mutations in either structural or nonstructural genetically determined heart diseases.