Background: The aim of the study was to determine, whether electrocardiogram (ECG) screening could reduce the risk of sudden cardiac death in patients with (Cardiol J 2016; 23, 1: 34-41)

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Congenital long QT syndrome (LQTS) is a primary cardiac channelopathy. Genetic testing has not only diagnostic but also prognostic and therapeutic implications. At present, 15 genes have been associated with the disease, with most mutations located in 3 major LQTS-susceptibility genes. During a routine genetic screening for KCNQ1, KCNH2 and SCN5A genes in index cases with LQTS, seven novel variants in KCNH2 and SCN5A genes were found. Genotypephenotype correlations were analysed in these patients and their families. An open reading frame and splice site analysis of the exons was conducted using next-generation sequencing. In novel variants, phenotypes of carriers and their affected relatives were analysed. In 39 unrelated patients, 40 pathogenic/putative pathogenic mutations were found. Thirty-three of them, predominantly missense, were reported previously: 11 were in the KCNQ, 17 in the KCNH2 and 5 in the SCN5A gene. Seven novel missense variants were found in eight families. Among them, four variants were in typical for LQTS location. Two variants in the KCNH2 gene (p.D803Y and p.D46F) and one in the SCN5A gene (G1391R) were in amino acid (AA) position which up to present has not been reported in LQTS. Phenotype analysis showed the life-threatening course of the disease in index cases with a history of sudden cardiac death in six families. Mutation carriers presented with ECG abnormalities and some of them received beta-blocker therapy. We report three novel variants (KCNQ1 p.46, KCNH2 p.D803Y, SCN5A p.G1391R) which have never been reported for this AA location in LQTS; the phenotype-genotype correlation suggests their pathogenicity. Keywords Long QT syndrome. Genetic screening. Novel variants What's new? Novel variants which have never been reported before in patients with LQT syndrome

Thrombosis secondary to Glenn anastomosis in Ebstein's anomaly has been reported very rarely, treatment depends on presenting symptoms and risk factors. In this article we presented the case of 63-year-old woman with Ebstein's anomaly (implantation of biological tricuspid valve,Glenn procedure, closure of patent foramen ovale and implantation of DDD type pacemaker with epicardial electrodes) who complained on neck discomfort while tilting head forward.Eventually in whom thrombosis within Glenn anastomosis was diagnosed by angio-CT scan. JRCD 2015; 2 (3): 89-91

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