Genome-wide screening using WES in patients with cardiac disease identified CDH2 and MYH10 as new candidates for arrhythmogenic cardiomyopathy and strengthened the hypothesis of involvement of cell adhesion network in its pathogenesis, discovered gene defects in primary cilium pathway in hypoplastic left heart syndrome, and provided molecular diagnosis for mitochondrial cardiomyopathy cases. The latter holds promise for a personalised treatment of ACAD9 patients using riboflavin supplementation.      «

Genome-wide screening using WES in patients with cardiac disease identified CDH2 and MYH10 as new candidates for arrhythmogenic cardiomyopathy and strengthened the hypothesis of involvement of cell adhesion network in its pathogenesis, discovered gene defects in primary cilium pathway in hypoplastic left heart syndrome, and provided molecular diagnosis for mitochondrial cardiomyopathy cases. The latter holds promise for a personalised treatment of ACAD9 patients using riboflavin supplementation....     »