ArticleJournal of the American Heart Association2021
Cardiac Magnetic Resonance Reveals Incipient Cardiomyopathy Traits in Adult Patients With Phenylketonuria.
Article in Journal of the American Heart Association, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 11 citations in OpenAlex.
- Assessing the nutritional value and health risks of special low‑protein foods: narrative review.Orphanet journal of rare diseases · 2026Review
- Nutritional knowledge of the phenylketonuria diet among healthcare providers in Saudi Arabia.Saudi medical journal · 2025Article
- Bridging metabolism and immuno-inflammation: a novel framework to characterize dilated cardiomyopathy subtype.Journal of translational medicine · 2025Article
- The association of plasma level of phenylalanine with inflammatory markers, insulin resistance, and atherosclerotic indexes in patients with phenylketonuria.Journal of diabetes and metabolic disorders · 2025Article
- The relationship between adult phenylketonuria and the cardiovascular system - insights into mechanisms and risks.Orphanet journal of rare diseases · 2025Review
- Large Variations in Phenylalanine Concentrations Associate Adverse Cardiac Remodelling in Adult Patients With Phenylketonuria-A Long-Term CMR Study.Journal of cachexia, sarcopenia and muscle · 2025Article
- No evidence for systemic low-grade inflammation in adult patients with early-treated phenylketonuria: The INGRAPH study.JIMD reports · 2023Article
- Half-Dose versus Single-Dose Gadobutrol for Extracellular Volume Measurements in Cardiac Magnetic Resonance.Journal of cardiovascular development and disease · 2023Article
- Phenylketonuria (PKU) Urinary Metabolomic Phenotype Is Defined by Genotype and Metabolite Imbalance: Results in 51 Early Treated Patients Using Ex VivoMolecules (Basel, Switzerland) · 2023Article
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Authors and funding
15 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background Phenylketonuria is the most common inborn error of amino acid metabolism, where oxidative stress and collateral metabolic abnormalities are likely to cause cardiac structural and functional modifications. We aim herein to characterize the cardiac phenotype of adult subjects with phenylketonuria using advanced cardiac imaging. Methods and Results Thirty-nine adult patients with phenylketonuria (age, 30.5±8.7 years; 10-year mean phenylalanine concentration, 924±330 µmol/L) and 39 age- and sex-matched healthy controls were investigated. Participants underwent a comprehensive cardiac magnetic resonance and echocardiography examination. Ten-year mean plasma levels of phenylalanine and tyrosine were used to quantify disease activity and adherence to treatment. Patients with phenylketonuria had thinner left ventricular walls (septal end-diastolic thickness, 7.0±17 versus 8.8±1.7 mm [
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