Channelopathies in sudden death: clinical relevance of molecular autopsy
Keywords:
Channelopathies, Sudden Death, Mutations, Genetic Mapping, Molecular Autopsy.Abstract
Channelopathies include a series of syndromes characteristic of an initial presentation of sudden death or syncope, in persons mostly young and known healthy, who have a normal autopsy. These are due to mutations in the genes encoding ionic channels of cardiac myocytes, as well as the proteins associated with whether functioning or translation. Because of their hereditary association, relatives may be at increased risk of developing the disorder despite being asymptomatic. There lies the importance of genetic mapping in those autopsies in which the cause of death has not been identified. Molecular autopsy allows searching and identifying these mutations and correlating sudden death with a channelopathy. This is essential for the evaluation of risk and prevention of another episode of sudden cardiac death in family members. This article discusses the most important channelopathies associated with sudden death, and the impact of genetic mapping on prevention and management in family members.
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