Genotype-phenotype correlation in arrhythmogenic right ventricular cardiomyopathy--risk of arrhythmias and heart failure

Conclusion
In this large cohort of ARVC families with long-term follow-up, we found PKP2 genotype to be more arrhythmic than DSC2/DSG2/DSP or gene-negative carrier status, whereas reduced LVEF was mostly seen among DSC2/DSG2/DSP carriers. Male sex was associated with a more severe phenotype.

Source: Journal of Medical Genetics - August 19, 2022 Category: Genetics & Stem Cells Authors: Christensen, A. H., Platonov, P. G., Jensen, H. K., Chivulescu, M., Svensson, A., Dahlberg, P., Madsen, T., Frederiksen, T. C., Heliö, T., Lie, O. H., Haugaa, K. H., Hastrup Svendsen, J., Bundgaard, H. Tags: Genotype-phenotype correlations Source Type: research