Biallelic PKP2 loss of function variants are associated with a lethal perinatal-onset biventricular dilated cardiomyopathy with excessive trabeculations and ventricular septal defects
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Authors
Gibb, J.
Wall, E.
Fields, E.
Seale, A.
Armstrong, C.
Bamber, A.
Daubeney, P.
Jacobs-Pearson, M.
Marton, T.
Stals, K.
Issue Date
2023-11-01
Type
Journal Article
Language
eng
Keywords
Cardiomyopathies , Child Health , Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Alternative Title
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.
Description
Citation
Gibb J, Wall E, Fields E, Seale A, Armstrong C, Bamber A, et al. Biallelic PKP2 loss of function variants are associated with a lethal perinatal-onset biventricular dilated cardiomyopathy with excessive trabeculations and ventricular septal defects. J Med Genet. 2023.
Publisher
BMJ
License
© Author(s) (or their employer(s)) 2023. No commercial re-use. See rights and permissions. Published by BMJ.
Journal
Journal of medical genetics