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


CONCLUSIONS
MPS I patients with the attenuated phenotype have not only valvular abnormalities but also LV diastolic and systolic abnormalities.
Soliman
O I I
OI
Department of Cardiology, Thoraxcenter, Erasmus Medical Center, Rotterdam, The Netherlands.
Timmermans
R G M
RG
Nemes
A
A
Vletter
W B
WB
Wilson
J H P
JH
ten Cate
F J
FJ
Geleijnse
M L
ML
D000328:Adult; D001022:Aortic Valve Insufficiency / Q000209:etiology; D001024:Aortic Valve Stenosis / Q000209:etiology; D016022:Case-Control Studies; D003971:Diastole; D015150:Echocardiography, Doppler; D015716:Electrocardiography, Ambulatory; D005260:Female; D006349:Heart Valve Diseases / Q000000981:diagnostic imaging / Q000209:etiology* / Q000503:physiopathology; D006801:Humans; D008297:Male; D008944:Mitral Valve Insufficiency / Q000209:etiology; D008946:Mitral Valve Stenosis / Q000209:etiology; D008059:Mucopolysaccharidosis I / Q000150:complications* / Q000000981:diagnostic imaging / Q000503:physiopathology; D010641:Phenotype; D011446:Prospective Studies; D012107:Research Design; D012720:Severity of Illness Index; D013599:Systole; D014262:Tricuspid Valve Insufficiency / Q000209:etiology; D016277:Ventricular Function, Left