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• W2043935723 abstract "Sudden cardiac death (SCD) is a leading cause of mortality worldwide. Although coronary artery disease remains the most common substrate for SCD, primary cardiac genetic diseases, presenting with or without structural heart abnormalities, play a significant role. In the last 30 years, the study of large family pedigrees allowed the discovery of causative genes unveiling the genetic basis of diseases such as primary cardiomyopathies and arrhythmia syndromes, which are known to increase the risk of SCD. However, recent technological advancement with the ability to perform massive parallel sequencing and analyze the entire genome has uncovered a higher level of complexity in the genetic predisposition for cardiac diseases, which are usually characterized by Mendelian inheritance patterns. Clinical genetic testing, historically shaped around a monogenic Mendelian disorder paradigm, is now facing the challenge to adopt and adapt to a more complex model in which a significant portion of subjects may present with multi-allelic inheritance involving additional genes that could modulate the severity and type of disease-related phenotypes. Here, we will try to provide a viewpoint that will hopefully foster further debate in the field." @default.
• W2043935723 created "2016-06-24" @default.
• W2043935723 creator A5004240247 @default.
• W2043935723 creator A5014073885 @default.
• W2043935723 date "2015-11-01" @default.
• W2043935723 modified "2023-09-26" @default.
• W2043935723 title "Use of genetic testing to identify sudden cardiac death syndromes" @default.
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• W2043935723 doi "https://doi.org/10.1016/j.tcm.2015.03.007" @default.
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