Biallelic PKP2 loss of function variants are associated with a lethal perinatal-onset biventricular dilated cardiomyopathy with excessive trabeculations and ventricular septal defects.
- Resource Type
- Academic Journal
- Authors
- Gibb J; Department of Paediatric Cardiology, Bristol Royal Hospital for Children, Bristol, Bristol, UK jgibb90@gmail.com.; Wall E; Department of Clinical Genetics, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.; Fields E; Centre for Paediatric Inherited and Rare Cardiovascular Disease, University College London, London, UK.; Centre for Inherited Cardiovascular Diseases, Great Ormond Street Hospital for Children, London, UK.; Seale A; Department of Paediatric Cardiology, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.; Armstrong C; Department of Paediatric Cardiology, Bristol Royal Hospital for Children, Bristol, Bristol, UK.; Bamber A; Department of Cellular Pathology, Southmead Hospital, Bristol, City of Bristol, UK.; Daubeney P; Department of Paediatric Cardiology, Royal Brompton and Harefield Hospitals, London, UK.; Guy's and St Thomas' Hospitals NHS Trust, London, UK.; Jacobs-Pearson M; Department of Clinical Genetics, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK.; Marton T; Department of Obstetrics and Gynecology, Semmelweis University Faculty of Medicine, Budapest, Hungary.; Department of Cellular pathology, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.; Stals K; Department of Molecular Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.; Low K; Department of Clinical Genetics, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK.; Department of Academic Child Health, University of Bristol, Bristol, UK.; Kaski JP; Centre for Paediatric Inherited and Rare Cardiovascular Disease, University College London, London, UK.; Centre for Inherited Cardiovascular Diseases, Great Ormond Street Hospital for Children, London, UK.; Spentzou G; Department of Paediatric Cardiology, Bristol Royal Hospital for Children, Bristol, Bristol, UK.
- Source
- Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE
- Subject
- Language
- English
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.
Competing Interests: Competing interests: None declared.
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