%0 Journal Article
%T Biallelic PKP2 loss of function variants are associated with a lethal perinatal-onset biventricular dilated cardiomyopathy with excessive trabeculations and ventricular septal defects.
%A Gibb J
%A Wall E
%A Fields E
%A Seale A
%A Armstrong C
%A Bamber A
%A Daubeney P
%A Jacobs-Pearson M
%A Marton T
%A Stals K
%A Low K
%A Kaski JP
%A Spentzou G
%J J Med Genet
%V 61
%N 4
%D 2024 Mar 21
%M 38050058
%F 5.941
%R 10.1136/jmg-2023-109493
%X 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.