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. 2007 Oct;30(5):750-7.
doi: 10.1007/s10545-007-0586-y. Epub 2007 Jun 14.

Cardiac abnormalities in adults with the attenuated form of mucopolysaccharidosis type I

O I I Soliman  1 , R G M Timmermans, A Nemes, W B Vletter, J H P Wilson, F J ten Cate, M L Geleijnse
Affiliations

Cardiac abnormalities in adults with the attenuated form of mucopolysaccharidosis type I

O I I Soliman et al. J Inherit Metab Dis. 2007 Oct.

Abstract

Background: Cardiac involvement in mucopolysaccharidosis type I (MPS I) has been studied primarily in its most severe forms. Cardiac involvement, particularly left ventricular (LV) systolic and diastolic function, in the attenuated form of MPS I is less well known.

Methods: Cardiac function was prospectively investigated in 9 adult patients with the attenuated form of MPS I. All patients underwent 12-lead electrocardiography, 24 h Holter monitoring and two-dimensional echocardiography including tissue Doppler imaging (TDI). Eighteen age- and sex-matched healthy volunteers served as a control group.

Results: Aortic, mitral and tricuspid valve thickening was seen in, respectively, 5 (56%), 4 (44%) and 2 (22%) patients. Moderate mitral valve stenosis was seen in 1 patient and moderate aortic stenosis in 2 patients. All patients had mild-to-moderate aortic and mitral valve regurgitation and 6 patients (67%) had mild-to-moderate tricuspid valve regurgitation. Despite normal LV dimensions, ejection fraction and mass index, MPS patients had lower mean systolic mitral annular velocities (6.1 +/- 0.6 vs 9.1 +/- 1.4 cm/s, p < 0.01) compared to normal control subjects. Similarly, mean early diastolic mitral annular velocities were lower in MPS patients (7.8 +/- 0.9 vs 13.3 +/- 3.3 cm/s, p < 0.01).

Conclusion: MPS I patients with the attenuated phenotype have not only valvular abnormalities but also LV diastolic and systolic abnormalities.

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Figures

Fig. 1
Fig. 1
Echocardiographic signs of cardiac involvement in patient (no. 1) with mucopolysaccharidosis type I: thickened mitral and aortic valve leaflets in parasternal long-axis view (A); thickened tricuspid valve leaflets in apical 4-chamber view (B); thickened mitral valve leaflets in parasternal short-axis view (C); mitral regurgitation jet in parasternal long-axis view (D); aortic regurgitation jet in apical long-axis view (E); and mitral annular velocity profile (F) from septal annulus (upper panel) and from lateral annulus (lower panel)
See this image and copyright information in PMC

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