Why the study?
Inherited arrhythmogenic syndromes cause unexpected lethal cardiac episodes in young people, and early identification of causative genetic defects may enable preventive measures to reduce lethal arrhythmia risk.
Genetic testing using massive sequencing technologies can identify risk markers for sudden death in inherited arrhythmogenic syndromes, enabling personalized preventive measures.
Supports genetic testing as a family risk marker in inherited arrhythmogenic syndromes; leaves open prospective validation before clinical adoption.
Inherited arrhythmogenic syndromes are the primary cause of unexpected lethal cardiac episodes in young people. It is possible that the first sign of the condition may be sudden death. Inherited arrhythmogenic syndromes are caused by genetic defects that may be analyzed using different technical approaches. A genetic alteration may be used as a marker of risk for families who carry the genetic alterations. Therefore, the early identification of the responsible genetic defect may help the adoption of preventive therapeutic measures focused on reducing the risk of lethal arrhythmias. Here, we describe the use of massive sequencing technologies and the interpretation of genetic analyses in inherited arrhythmogenic syndromes.
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Campuzano et al. (2020) studied this question.
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