Large Genomic Rearrangements of Desmosomal Genes in Italian Arrhythmogenic Cardiomyopathy Patients [Original Articles]

Conclusions: Genomic rearrangements were detected in 7% of AC probands negative for pathogenic point mutations in desmosomal genes, highlighting the potential of CNVs analysis to substantially increase the diagnostic yield of genetic testing. Genotype–phenotype correlation demonstrated the presence of the disease in about one third of family members carrying the CNV, underlying the role of other factors in the development and progression of the disease.

http://circep.ahajournals.org/cgi/content/short/10/10/e005324?rss=1

Source: Circulation: Arrhythmia and Electrophysiology - October 16, 2017 Category: Cardiology Authors: Pilichou, K., Lazzarini, E., Rigato, I., Celeghin, R., De Bortoli, M., Perazzolo Marra, M., Cason, M., Jongbloed, J., Calore, M., Rizzo, S., Regazzo, D., Poloni, G., Iliceto, S., Daliento, L., Delise, P., Corrado, D., Van Tintelen, J. P., Thiene, G., Ramp Tags: Arrhythmias, Sudden Cardiac Death, Clinical Studies, Genetics, Cardiomyopathy Original Articles Source Type: research