Successful heart transplantation in an infant with phosphoglucomutase 1 deficiency (PGM1-CDG).

Autor: Altassan R; Department of Medical Genomics, Centre for Genomic Medicine King Faisal Specialist Hospital and Research Centre Riyadh Saudi Arabia.; College of Medicine Alfasial University Riyadh Saudi Arabia.; Department of Clinical Genomics Mayo Clinic Rochester Minnesota USA., Albert-Brotons DC; Department of Cardiology, Heart Centre King Faisal Specialist Hospital and Research Centre Riyadh Saudi Arabia., Alowain M; Department of Medical Genomics, Centre for Genomic Medicine King Faisal Specialist Hospital and Research Centre Riyadh Saudi Arabia.; College of Medicine Alfasial University Riyadh Saudi Arabia., Al-Halees Z; Department of Cardiology, Heart Centre King Faisal Specialist Hospital and Research Centre Riyadh Saudi Arabia., Jaeken J; Department of Pediatrics University Hospitals Leuven Leuven Belgium., Morava E; Department of Clinical Genomics Mayo Clinic Rochester Minnesota USA.
Jazyk: angličtina
Zdroj: JIMD reports [JIMD Rep] 2022 Nov 22; Vol. 64 (2), pp. 123-128. Date of Electronic Publication: 2022 Nov 22 (Print Publication: 2023).
DOI: 10.1002/jmd2.12350
Abstrakt: We report successful heart transplantation in a phosphoglucomutase 1 deficient (PGM1-CDG) patient. She presented with facial dysmorphism, bifid uvula and structural heart defects. Newborn screening was positive for classic galactosemia. The patient was on a galactose-free diet for 8 months. Eventually, whole exome sequencing excluded the galactosemia and revealed PGM1-CDG. Oral D-galactose therapy was started. Rapid deterioration of the progressive dilated cardiomyopathy prompted heart transplantation at the age of 12 months. Cardiac function was stable in the first 18 months of follow-up, and hematologic, hepatic, and endocrine laboratory findings improved during D-galactose therapy. The latter therapy improves several systemic symptoms and biochemical abnormalities in PGM1-CDG but does not correct the heart failure related to cardiomyopathy. Heart transplantation has so far only been described in DOLK-CDG.
Competing Interests: Ruqaiah Altassan, Dimpna C. Albert‐Brotons, Mohammad Alowain, Zohair Al‐Halees, Jaak Jaeken, and Eva Morava have approved the manuscript and declare no conflict of interest. They did not receive reimbursements/fees/funds/salaries from an organization that may in any way gain or lose financially from the results reported in the reviewed manuscript in the last 5 years and have no other competing financial or non‐financial interests, as outlined in the JIMD Conflict of Interest form.
(© 2022 The Authors. JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM.)
Databáze: MEDLINE
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