Update in Genetic Causes of Sudden Cardiac Death

Sudden cardiac death (SCD) is a devastating complication of several different cardiovascular disorders. Over the age of 40 years the most common cause of SCD is due to coronary artery disease and myocardial infarction. In the young under the age of 40 years, inherited/genetic cardiovascular disorders are more common, including the inherited arrhythmia syndromes and the primary cardiomyopathies. Detailed evaluation of the premorbid clinical history, including a detailed family history, and comprehensive expert postmortem examination is essential. In SCD cases where no cause of death is identified at postmortem, a “molecular autopsy”, i.e. genetic testing of a blood or tissue sample collected at postmortem, should be performed, with the aim of identifying a pathological genetic variant that would account for the death of the decedent, i.e. the cause of death. Establishing a cause of SCD can provide a degree of psychological relief for loved ones by providing answers and relieving uncertainty. Furthermore, clinical and genetic screening of family members is essential in the prevention of adverse clinical outcomes and SCD events in surviving relatives. Care should ideally be provided in a specialized multidisciplinary clinic setting, and this model of care should be supported and developed in countries where such services do not currently exist, reducing racial disparities and overcoming socioeconomic factors. Newer genetic and molecular developments may further improve and refine our diagnostic and management strategies with the ultimate goal to prevent SCD in our communities.