Jack Gibb, Elizabeth Wall, Ella Fields, Anna Seale, Catherine Armstrong, Andrew Bamber, Piers Daubeney, Makaela Jacobs-Pearson, Tamas Marton, Karen Stals, Karen Low, Juan Pablo Kaski, Georgia Spentzou
Homozygous plakophilin-2 ( PKP2 ) variants have been identified as a cause of a lethal form of dilated cardiomyopathy with excessive trabeculations (DCM-ET) in three cases. 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...
November 27, 2023: Journal of Medical Genetics