Related Experiment Video
Updated: Nov 9, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
Sudden Cardiac Death-A New Insight Into Potentially Fatal Genetic Markers
Dragan Primorac1,2,3,4,5,6,7,8,9, Ljubica Odak1,10, Vitorio Perić1
1St. Catherine Specialty Hospital, Zagreb, Croatia.
Abstract:
Sudden cardiac death (SCD) is an unexpected and dramatic event. It draws special attention especially in young, seemingly healthy athletes. Our scientific paper is based on the death of a young, 23-year-old professional footballer, who died on the football field after a two-year history of cardiac symptoms. In this study we analyzed clinical, ECG and laboratory data, as well as results of genetic testing analysis in family members. To elucidate potential genetic etiology of SCD in this family, our analysis included 294 genes related to various cardiac conditions.
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