Impaired myocardial perfusion reserve but preserved peripheral endothelial function in patients with Fabry disease

• Published in: Journal of inherited metabolic disease 2005-08, Vol.28 (4), p.563-573
• Main Authors: Kalliokoski, R. J., Kalliokoski, K. K., Sundell, J., Engblom, E., Penttinen, M., Kantola, I., Raitakari, O. T., Knuuti, J., Nuutila, P.
• Format: Article
• Language: English
• Subjects: Adult; Biological and medical sciences; Blood Flow Velocity; Brachial Artery - pathology; Case-Control Studies; Coronary Circulation; Echocardiography; Endothelium, Vascular - metabolism; Endothelium, Vascular - pathology; Fabry Disease - metabolism; Fabry Disease - pathology; Feeding. Feeding behavior; Female; Fundamental and applied biological sciences. Psychology; Genetics of eukaryotes. Biological and molecular evolution; Glycosphingolipids - metabolism; Heart Ventricles - pathology; Hemodynamics; Humans; Male; Molecular and cellular biology; Muscle, Smooth, Vascular - cytology; Myocardium - pathology; Perfusion; Positron-Emission Tomography; Time Factors; Vertebrates: anatomy and physiology, studies on body, several organs or systems
• ISSN: 0141-8955; 1573-2665
• DOI: 10.1007/s10545-005-0563-2

Summary Fabry disease (McKusick 301500) is an X‐linked lysosomal storage disorder due to deficient α‐galactosidase A activity, which leads to accumulation of glycosphingolipids, especially in vascular smooth‐muscle and endothelial cells. The effect of this accumulation on peripheral and cardiac vascular function is poorly known. We studied 15 Fabry patients (mean age 35 years and mean BMI 24.8 kg/m2) and 30 age‐ and BMI‐matched healthy controls to examine whether myocardial perfusion reserve and peripheral artery endothelial function are altered. Myocardial perfusion was measured at rest and during dipyridamole‐induced hyperaemia by positron emission tomography and H215O. Myocardial blood flow reserve was calculated as the ratio between the dipyridamole‐induced maximal blood flow and resting blood flow. Peripheral artery endothelial function was assessed by measuring the brachial artery flow‐mediated dilatation using ultrasound at rest and during reactive hyperaemia. The myocardial perfusion reserve was significantly lower in Fabry patients than in controls (3.3 ± 1.2 vs 4.4 ± 1.6, p = 0.02), while the brachial artery flow‐mediated dilatation was similar (5.9% ± 3.9%vs 4.5% ± 3.6%, p = 0.27). Thus, inFabry disease, myocardial perfusion reserve is reduced while the peripheral artery endothelial function is preserved.