Large Variations in Phenylalanine Concentrations Associate Adverse Cardiac Remodelling in Adult Patients With Phenylketonuria—A Long‐Term CMR Study
At long-term follow-up, a marked drop in Phe plasma concentration was associated with detrimental cardiac remodelling consisting of decreased LV systolic function and increased diffuse fibrosis, in PKU patients. These new data prompt further investigation into the effects of large Phe variability over time and underline the usefulness of periodic cardiovascular assessment in adults with PKU.
Authors
- Alessandro Faragli (ORCID: https://orcid.org/0000-0003-0883-2672)
- Athanasia Ziagaki (ORCID: https://orcid.org/0000-0001-6161-3781)
- Christian Stehning (ORCID: https://orcid.org/0000-0002-0660-840X)
- Jan‐Hendrik Hassel
- Patrick Doeblin (ORCID: https://orcid.org/0000-0002-1511-8015)
- Sebastian Kelle (ORCID: https://orcid.org/0000-0001-8105-6599)
- Ursula Plöckinger
- Radu Tanacli (ORCID: https://orcid.org/0000-0002-2193-9813)
Institutions
- Humboldt-Universität zu Berlin (DE)
- Deutsches Herzzentrum der Charité (DE)
- German Centre for Cardiovascular Research (DE)
- Philips (Germany) (DE)
- Freie Universität Berlin (DE)
- Charité - Universitätsmedizin Berlin (DE)
Publication Details
- Journal
- Journal of Cachexia Sarcopenia and Muscle
- Published
- 2025-01-10
- DOI
- https://doi.org/10.1002/jcsm.13667
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Deutsches Zentrum für Herz-Kreislaufforschung
- Deutsche Forschungsgemeinschaft
- Bundesministerium für Bildung und Forschung