Details

Autor(en) / Beteiligte

• Gibb, Jack
• Wall, Elizabeth
• Fields, Ella
• Seale, Anna
• Armstrong, Catherine
• Bamber, Andrew
• Daubeney, Piers
• Jacobs-Pearson, Makaela
• Marton, Tamas
• Stals, Karen
• Low, Karen
• Kaski, Juan Pablo
• Spentzou, Georgia

Titel

Biallelic PKP2 loss of function variants are associated with a lethal perinatal-onset biventricular dilated cardiomyopathy with excessive trabeculations and ventricular septal defects

Ist Teil von

• Journal of medical genetics, 2024-03, Vol.61 (4), p.405-409

Ort / Verlag

England: BMJ Publishing Group LTD

Erscheinungsjahr

2024

Quelle

MEDLINE

Beschreibungen/Notizen

• Homozygous plakophilin-2 ( ) 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 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 variants cause a lethal, perinatal-onset cardiomyopathy.