Affiliation:
1. Department of Cardiology German Heart Centre Berlin Berlin Germany
2. Department of Cardiology Charité University Medicine Berlin Berlin Germany
3. Philips Healthcare Systems Hamburg Germany
4. Department of Hepatology and Gastroenterology Charité University Medicine Berlin Berlin Germany
5. Interdisziplinäres Stoffwechsel‐Centrum Charité‐Universitätsmedizin BerlinCampus Virchow Klinikum Berlin Germany
6. German Centre for Cardiovascular Research DZHK, Partner Site Berlin Berlin Germany
7. Department of Endocrinology, Diabetes, and Nutrition Charité University Medicine Berlin Berlin Germany
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 [
P
<0.001]; lateral thickness, 6.1±1.4 versus 6.8±1.2 mm [
P
=0.004]), more dilated left ventricular cavity (end‐diastolic volume, 87±14 versus 80±14 mL/m
2
[
P
=0.0178]; end‐systolic volume, 36±9 versus 29±8 mL/m
2
[
P
<0.001]), lower ejection fraction (59±6% versus 64±6% [
P
<0.001]), reduced systolic deformation (global circumferential strain, −29.9±4.2 % versus −32.2±5.0 % [
P
=0.027]), and lower left ventricular mass (38.2±7.9 versus 47.8±11.0 g/m
2
[
P
<0.001]). T1 native values were decreased (936±53 versus 996±26 ms [
P
<0.001]), with particular low values in patients with phenylalanine >1200 µmol/L (909±48 ms). Both mean phenylalanine (
P
=0.013) and tyrosine (
P
=0.035) levels were independently correlated with T1; and in a multiple regression model, higher phenylalanine levels and higher left ventricular mass associate with lower T1.
Conclusions
Cardiac phenotype of adult patients with phenylketonuria reveals some traits of an early‐stage cardiomyopathy. Regular cardiology follow‐up, tighter therapeutic control, and prophylaxis of cardiovascular risk factors, in particular dyslipidemia, are recommended.
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
Cardiology and Cardiovascular Medicine
Cited by
4 articles.
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