Volume 16 Supplement 1

Abstracts of the 17th Annual SCMR Scientific Sessions

Open Access

Comprehensive characterization of cardiac morphology and function in adult patients with phenylketonuria using CMR

  • Jan-Hendrik Hassel1,
  • Nikolaus Tilling2,
  • Lenka Bosanska2,
  • Bernhard Schnackenburg3,
  • Daniel Messroghli1,
  • Alexander Berger1,
  • Rolf Gebker1,
  • Christopher Schneeweis1,
  • Eckart Fleck1,
  • Ursula Plöckinger2 and
  • Sebastian Kelle1
Journal of Cardiovascular Magnetic Resonance201416(Suppl 1):P246

https://doi.org/10.1186/1532-429X-16-S1-P246

Published: 16 January 2014

Background

Phenylketonuria (PKU) is one of the most common inherited metabolic disorders. The molecular pathway of neurological damage is not yet sufficiently understood. To date, there is a lack information about cardiac involvement related to the disease. This study aims to characterize cardiac morphology and function in adult patients with PKU using cardiovascular magnetic resonance (CMR).

Methods

28 patients with PKU (age 30 ± 9 years/mean ± SD) underwent a comprehensive CMR protocol at a 1.5T CMR scanner (Philips, Achieva) including assessment of left ventricular (LV) volume and mass. In addition, T1 measurements pre- and post-administration of gadolinium for evaluation of extra corpuscular volume (ECV) and tagging for quantitative analysis of left ventricular circumferential strain (Ecc) were performed. 8 healthy age-matched volunteers underwent a similar protocol and served as controls for the ECV values. LV parameters and Ecc were compared to reference values from previous studies with similar data setup [13].

Results

CMR exams were successfully performed in all patients. As shown in Figure 1 LV mass index was reduced to the lower 95% confidence interval of the reference values [4, 5] in each subgroup. ECV showed no significant difference between PKU patients (0.27 ± 0.03/mean ± SD) and the control group (0.28 ± 0.02/mean ± SD) (Figure 2) p = 0.15. PKU patients had higher Ecc values (= -0.22%) compared to reference values (Ecc = -0.20%) with similar segmental patterns.
Figure 1

left ventricular mass index (LVMI) in patients with phenylketonuria separated after age and sex.

Figure 2

ECV in patients with phenylketonuria and healthy controls.

Conclusions

The results of this study indicate that in PKU patients compared to healthy controls LV mass indexed to BSA is reduced to the reference values; we found increased average Ecc parameters and normal ECV values. Further investigations in larger patient groups and older PKU patients are necessary for evaluation of cardiac involvement of the disease over time and its consequences.

Funding

None.

Authors’ Affiliations

(1)
Cardiology, German Heart Institute Berlin
(2)
Interdisziplinäres Stoffwechsel-Centrum, Charité-Universitätsmedizin Berlin
(3)
Philips Healthcare Systems

References

  1. Kuijer, et al: Three-dimensional myocardial strains at end-systole and during diastole in the left ventricle of normal humans. J Cardiovasc Magn Reson. 2002, 4 (3): 341-351. 10.1081/JCMR-120013299.View ArticlePubMedGoogle Scholar
  2. Moore, et al: Three-dimensional systolic strain patterns in the normal human left ventricle: characterization with tagged MR imaging. In Radiology. 2000, 214 (2): 453-466. 10.1148/radiology.214.2.r00fe17453.View ArticleGoogle Scholar
  3. Young, et al: Three-dimensional left ventricular deformation in hypertrophic cardiomyopathy. In Circulation. 1994, 90 (2): 854-867. 10.1161/01.CIR.90.2.854.View ArticleGoogle Scholar
  4. Maceira, et al: Normalized left ventricular systolic and diastolic function by steady state free precession cardiovascular magnetic resonance. In J Cardiovasc Magn Reson. 2006, 8 (3): 417-426. 10.1080/10976640600572889.View ArticleGoogle Scholar
  5. Maceira, et al: Reference right ventricular systolic and diastolic function normalized to age, gender and body surface area from steady-state free precession cardiovascular magnetic resonance. In Eur Heart J. 2006, 27 (23): 2879-2888. 10.1093/eurheartj/ehl336.View ArticleGoogle Scholar

Copyright

© Hassel et al.; licensee BioMed Central Ltd. 2014

This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

Advertisement