Abstract
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.
Highlights
Cardiovascular diseases are the leading global cause of death, accounting for 30% of documented mortality
Nine genes are associated with CPVT (Figure 1), and genetic alteration is a potential cause in almost 65% of cases, 60% of cases are attributed to rare nonsynonymous variants in the cardiac ryanodine receptor (RYR2) [20]
Comprehensive genetic analysis identified a genetic cause in 40% of cases, with most diagnosed cases resulting from alterations in KCNH2, KCNQ1, and KCNJ2
Summary
Cardiovascular diseases are the leading global cause of death, accounting for 30% of documented mortality (www.who.int/health-topics/cardiovascular-diseases). Because SCD is often the first sign of disease, early identification is critical to implement preventive measures This is especially important in asymptomatic individuals for whom genetics are the only sign of risk. The four predominant IASs are long QT syndrome (LQTS), Brugada syndrome (BrS), catecholaminergic polymorphic ventricular tachycardia (CPVT), and short QT syndrome (SQTS) [4]. These inherited disorders are characterized by incomplete penetrance and variable expressivity, usually impeding definite diagnosis. Almost 40% of SCD cases do not present cardiac anomalies after complete autopsy, and lethal IAS is often designated as the most plausible cause of death [7]. We discuss genetic approaches used to identify nonsynonymous variants in IAS and considerations for their interpretation
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