GPI-anchoring disorders and the heart: Is cardiomyopathy an overlooked feature?

Allan Bayat*, Tobias Lindau, Angel Aledo-Serrano, Antonio Gil-Nagel, Ivo Barić, Dorotea Bartoniček, Josipa Mateševac, Danijela Petković Ramadža, Tamara Žigman, Silvija Pušeljić, Sanja Dorner, Caleb Bupp, Seth Devries, Rikke Steensbjerre Møller

*Corresponding author af dette arbejde

Publikation: Bidrag til tidsskriftArtikelForskningpeer review


Glycosylphosphatidylinositol anchoring disorders (GPI-ADs) are a subgroup of congenital disorders of glycosylation. GPI biosynthesis requires proteins encoded by over 30 genes of which 24 genes are linked to neurodevelopmental disorders. Patients, especially those with PIGA-encephalopathy, have a high risk of premature mortality which sometimes is attributed to cardiomyopathy. We aimed to explore the occurrence of cardiomyopathy among patients with GPI-ADs and to raise awareness about this potentially lethal feature. Unpublished patients with genetically proven GPI-ADs and cardiomyopathy were identified through an international collaboration and recruited through the respective clinicians. We also reviewed the literature for published patients with cardiomyopathy and GPI-AD and contacted the corresponding authors for additional information. We identified four novel and unrelated patients with GPI-AD and cardiomyopathy. Cardiomyopathy was diagnosed before adulthood and was the cause of early demise in two patients. Only one patients underwent cardiac workup after being diagnosed with a GPI-AD. All were diagnosed with PIGA-encephalopathy and three had a disease-causing variant at the same residue. The literature reports five additional children with GPI-AD related cardiomyopathy, three of which died before adulthood. We have shown that patients with GPI-ADs are at risk of developing cardiomyopathy and that regular cardiac workup with echocardiography is necessary.

TidsskriftClinical Genetics
StatusUdgivet, E-publikation før trykning - 25 jul. 2023

Bibliografisk note

© 2023 The Authors. Clinical Genetics published by John Wiley & Sons Ltd.


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