Genetic Profiling of Cardiac Disorders

The study was performed according to the Declaration of Helsinki, and approval was obtained from the Ethical Review Boards of Almazov National Medical Research Centre, approval number 2014/95. Written informed consent was obtained from the study subject, including a consent for publication of the clinical case. Target next generation sequencing was performed on Illumina MiSeq using Haloplex custom target enrichment kit (Agilent; Waldbronn, Germany) with a panel of 108 genes associated with cardiac disorders as earlier described (Kostareva et al., 2016 (link)). All disease-related genetic variants were subsequently validated by Sanger sequencing and classified according to American College of Medical Genetics guidelines (Richards et al., 2015 (link)).