AUTHOR=Primorac Dragan , Odak Ljubica , Perić Vitorio , Ćatić Jasmina , Šikić Jozica , Radeljić Vjekoslav , Manola Šime , Nussbaum Robert , Vatta Matteo , Aradhya Swaroop , Sofrenović Tanja , Matišić Vid , Molnar Vilim , Skelin Andrea , Mirat Jure , Brachmann Johannes 

TITLE=Sudden Cardiac Death—A New Insight Into Potentially Fatal Genetic Markers

JOURNAL=Frontiers in Medicine

VOLUME=Volume 8 - 2021

YEAR=2021

URL=https://www.frontiersin.org/journals/medicine/articles/10.3389/fmed.2021.647412

DOI=10.3389/fmed.2021.647412

ISSN=2296-858X

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 heart disease. Based on the analysis of 294 genetic variants obtained by Invitae Corp. clinical laboratory test, as well as laboratory findings and ECG, the potential combination of fatal gene variants of the proband was reconstructed and presented as the possible cause of SCD by excluding other etiological factors including coronary artery disease and cardiomyopathy caused by de novo variant.