Carotid intima-media thickness is increased in patients with mucopolysaccharidoses
Raymond Y Wang1, Kelly K Covault, Eileen M Halcrow
1Division of Metabolic Disorders, Pediatric Subspecialty Faculty, CHOC Children's, Orange, CA, USA. rawang@choc.org
Background:
The feasibility of carotid artery intima-media thickness (C-IMT), an established cardiovascular disease marker, as a cardiac risk marker in mucopolysaccharidosis (MPS) patients was explored.
Objectives:
To determine if C-IMT is abnormal in MPS versus unaffected controls, and if C-IMT correlates with coronary artery diameter in MPS.
Material And Methods:
Measurements of C-IMT via neck ultrasound and echocardiographic parameters, including coronary artery diameters, were obtained from MPS and control patients, and compared.
Results:
Sixteen MPS subjects (6 MPS I, 6 MPS II, 2 MPS III, 1 MPS VI, 1 MPS VII) and sixteen age, ethnicity, and gender-matched controls were enrolled. Median MPS and control subject ages were 8.3±4.5 and 8.6±4.3 years, respectively (p=0.73). Mean MPS and control C-IMTs were 0.54±0.070 and 0.48±0.034 mm (p=0.0029). No differences in left main, left anterior descending, or right coronary artery diameters were seen between MPS and controls. A significant proportion of MPS subjects had mitral insufficiency (14/16; p=0.0002), aortic insufficiency (10/16; p=0.0021), and left ventricular dilatation (7/16, p=0.037) versus controls. C-IMT did not correlate significantly with age, height, weight, coronary measurements, or duration of treatment.
Conclusion:
C-IMT in MPS patients is increased compared to matched controls, likely reflective of arterial intima-medial glycosaminoglycan accumulation. MPS subjects demonstrated a high percentage of left-sided valvular insufficiency and ventricular dilatation. Additional studies should be performed in MPS patients to determine if C-IMT correlates with arterial elasticity, biomarkers of vascular dysfunction, and higher risk of cardiovascular events.
Insights
Carotid artery intima-media thickness (C-IMT) is elevated in mucopolysaccharidosis (MPS) patients, indicating increased cardiovascular risk. This study explored C-IMT as a cardiac marker in MPS, finding it higher than in controls.
Area of Science:
- Cardiovascular Medicine
- Pediatric Endocrinology
- Rare Diseases
Background:
- Mucopolysaccharidosis (MPS) is a group of rare genetic disorders.
- Cardiovascular disease is a significant concern in MPS patients.
- Carotid artery intima-media thickness (C-IMT) is a known marker for cardiovascular disease.
Purpose of the Study:
- To assess if C-IMT is abnormal in MPS patients compared to healthy controls.
- To investigate the correlation between C-IMT and coronary artery diameter in MPS patients.
Main Methods:
- Neck ultrasound was used to measure C-IMT in MPS patients and controls.
- Echocardiography was performed to obtain coronary artery diameters.
- Measurements were compared between MPS and control groups.
Main Results:
- MPS patients exhibited significantly higher mean C-IMT (0.54±0.070 mm) than controls (0.48±0.034 mm).
- No significant differences were found in coronary artery diameters between groups.
- MPS patients showed a high prevalence of mitral and aortic insufficiency, and left ventricular dilatation.
Conclusions:
- Elevated C-IMT in MPS patients suggests arterial wall thickening, possibly due to glycosaminoglycan accumulation.
- MPS patients have a high incidence of left-sided heart valve abnormalities and ventricular dilatation.
- Further research is needed to link C-IMT with vascular dysfunction and cardiovascular events in MPS.
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