Biallelic PKP2 loss of function variants are associated with a lethal perinatal-onset biventricular dilated cardiomyopathy with excessive trabeculations and ventricular septal defects

We report three more cases from two families with homozygous pathogenic PKP2 variants and perinatal-onset, lethal DCM-ET. Identification of the genetic abnormalities played a key role in decision-making and family counselling in these cases. This case series supports the published evidence that biallelic loss of function PKP2 variants cause a lethal, perinatal-onset cardiomyopathy.

Source: Journal of Medical Genetics - March 21, 2024 Category: Genetics & Stem Cells Authors: Gibb, J., Wall, E., Fields, E., Seale, A., Armstrong, C., Bamber, A., Daubeney, P., Jacobs-Pearson, M., Marton, T., Stals, K., Low, K., Kaski, J. P., Spentzou, G. Tags: Phenotypes Source Type: research