Abstract
Sudden cardiac death (SCD) is an important cause of mortality worldwide. It accounts for approximately half of all deaths from cardiovascular disease. While coronary artery disease and acute myocardial infarction account for the majority of SCD in the elderly population, inherited cardiac diseases (inherited CDs) comprise a substantial proportion of younger SCD victims with a significant genetic component. Currently, the use of next-generation sequencing enables the rapid analysis to investigate relationships between genetic variants and inherited CDs causing SCD. Genetic contribution to risk has been considered an alternate predictor of SCD. In the past years, large numbers of SCD susceptibility variants were reported, but these results are scattered in numerous publications. Here, we present the SCD-associated Variants Annotation Database (SVAD) to facilitate the interpretation of variants and to meet the needs of data integration. SVAD contains data from a broad screening of scientific literature. It was constructed to provide a comprehensive collection of genetic variants along with integrated information regarding their effects. At present, SVAD has accumulated 2,292 entries within 1,239 variants by manually surveying pertinent literature, and approximately one-third of the collected variants are pathogenic/likely-pathogenic following the ACMG guidelines. To the best of our knowledge, SVAD is the most comprehensive database that can provide integrated information on the associated variants in various types of inherited CDs. SVAD represents a valuable source of variant information based on scientific literature and benefits clinicians and researchers, and it is now available on http://svad.mbc.nctu.edu.tw/.
Highlights
Sudden cardiac death (SCD) is defined as the unexpected death occurring within 1 h from the onset of symptoms in a subject with no known prior fatal condition [1, 2]
It was presently focused on five types of inherited CD (i.e., Hypertrophic cardiomyopathy (HCM), Arrhythmogenic right ventricular cardiomyopathy (ARVC), Long QT syndrome (LQTS), BrS and Catecholaminergic polymorphic ventricular tachycardia (CPVT)) causing non-ischemic SCD, and associated literature was searched in the Entrez PubMed using “hypertrophic cardiomyopathy”, “arrhythmogenic right ventricular cardiomyopathy”, “long QT syndrome”, “Brugada syndrome”, “catecholaminergic polymorphic ventricular tachycardia” and “Date— Publication from 2011/01/01 to 2018/03/31” as search terms
The key genes were selected according to our ICDscreening panel, and this panel included only the established genes with significant clinical impact, high prevalence, and clear and relevant pathogenetic mechanisms
Summary
Sudden cardiac death (SCD) is defined as the unexpected death occurring within 1 h from the onset of symptoms in a subject with no known prior fatal condition [1, 2]. SCD is a major public health issue, accounting for approximately half of all deaths from cardiovascular diseases [3, 4]. While coronary artery disease and acute myocardial infarction account for the majority of SCD in the elderly population, inherited cardiac diseases (inherited CDs) comprise a substantial proportion of younger SCD victims with a significant genetic component [14, 17,18,19,20,21,22,23]. In half of young SCD victims, the etiology has been reported to be inherited CDs [2, 24]. In the United States, the most common causes of SCD in the young are HCM (~40% to 50%), arrhythmias (~20%), other cardiomyopathies (~10%), and others [29]
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