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Biallelic PKP2 loss of function variants are associated with a lethal perinatal-onset biventricular dilated cardiomyopathy with excessive trabeculations and ventricular septal defects
  1. Jack Gibb1,
  2. Elizabeth Wall2,
  3. Ella Fields3,4,
  4. Anna Seale5,
  5. Catherine Armstrong1,
  6. Andrew Bamber6,
  7. Piers Daubeney7,8,
  8. Makaela Jacobs-Pearson9,
  9. Tamas Marton10,11,
  10. Karen Stals12,
  11. Karen Low9,13,
  12. Juan Pablo Kaski3,4,
  13. Georgia Spentzou1
  1. 1 Department of Paediatric Cardiology, Bristol Royal Hospital for Children, Bristol, Bristol, UK
  2. 2 Department of Clinical Genetics, Birmingham Women’s and Children’s Hospitals NHS Foundation Trust, Birmingham, UK
  3. 3 Centre for Paediatric Inherited and Rare Cardiovascular Disease, University College London, London, UK
  4. 4 Centre for Inherited Cardiovascular Diseases, Great Ormond Street Hospital for Children, London, UK
  5. 5 Department of Paediatric Cardiology, Birmingham Women’s and Children’s Hospitals NHS Foundation Trust, Birmingham, UK
  6. 6 Department of Cellular Pathology, Southmead Hospital, Bristol, City of Bristol, UK
  7. 7 Department of Paediatric Cardiology, Royal Brompton and Harefield Hospitals, London, UK
  8. 8 Guy's and St Thomas' Hospitals NHS Trust, London, UK
  9. 9 Department of Clinical Genetics, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK
  10. 10 Department of Obstetrics and Gynecology, Semmelweis University Faculty of Medicine, Budapest, Hungary
  11. 11 Department of Cellular pathology, Birmingham Women’s and Children’s Hospitals NHS Foundation Trust, Birmingham, UK
  12. 12 Department of Molecular Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK
  13. 13 Department of Academic Child Health, University of Bristol, Bristol, UK
  1. Correspondence to Dr Jack Gibb, Paediatric cardiology, Bristol Royal Hospital for Children, Bristol, UK; jgibb90{at}


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.

  • Cardiomyopathies
  • Child Health
  • Congenital, Hereditary, and Neonatal Diseases and Abnormalities

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  • JG and EW contributed equally.

  • KL, JPK and GS contributed equally.

  • Contributors All authors contributed to the writing or editing of this manuscript.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.