High Prevalence of Late-Onset Fabry Cardiomyopathy in a Cohort of 499 Non-Selective Patients with Left Ventricular Hypertrophy: The Asian Fabry Cardiomyopathy High-Risk Screening Study (ASIAN-FAME).

Left ventricular hypertrophy (LVH) caused by cardiac variant Fabry disease (FD) is typically late-onset and may mimic LVH caused by abnormal loading conditions. We aimed to determine the prevalence of FD in a non-selective patient population of everyday practice presenting with LVH, including those with hypertension and valve disease. We measured plasma alpha-galactosidase A activity using dried blood spot tests in 499 (age = 66 ± 13 years; 336 men) Hong Kong Chinese patients with LVH defined as maximal LV septal/posterior wall thickness ≥13 mm on echocardiography. Patients with low enzyme activity underwent mutation analysis of the GLA gene. Eight (age = 53-74 years; all men) unrelated patients (1.6%) had low plasma alpha-galactosidase A activity (0.57 ± 0.27 µmol/L wb/hr) and all were confirmed to have the GLA IVS4 + 919G > A mutation. FD patients presented with heart failure (n = 5), heart block (n = 2), ventricular tachycardia (n = 1), chest pain (n = 3), and/or murmur (n = 1). Uncontrolled hypertension (n = 4) and/or severe mitral/aortic valve pathology (n = 2) were frequent. Ethnic subgroups included Teochew (n = 5), Canton (n = 2), and Wenzhou (n = 1). Endomyocardial biopsy (n = 6) revealed hypertrophic myocytes with vacuolization and dense lamellar bodies. Late-onset IVS4 + 919G > A FD is prevalent among Chinese LVH patients, and should be considered as a cause of LVH in adult patients even when hypertension and/or valve pathology are present.

Glenoid bone loss: assessment with MR imaging.

PURPOSE: To investigate the agreement among magnetic resonance (MR) imaging, computed tomography (CT), and arthroscopy in the measurement of glenoid bone loss. MATERIALS AND METHODS: This study was approved by the institutional ethics committee. One hundred seventy-six patients (158 male and 18 female patients; mean age, 26.8 years ± 12.3) with anterior shoulder dislocation underwent both shoulder MR imaging and CT examination. Anterior straight line length, glenoid width, and best-fit bone loss were measured with MR imaging and CT. Sixty-five patients also underwent arthroscopy, which was used as the standard of reference. Assessment of glenoid bone loss at MR imaging was compared with that at CT and arthroscopy. Inter- and intrareader reproducibility of MR imaging-derived measurements of glenoid bone loss was evaluated. RESULTS: There was excellent correlation between CT and MR imaging with regard to anterior straight line length (r = 0.97, P < .0001), glenoid width (r = 0.95, P < .0001), and severity of glenoid bone loss-particularly with use of best-fit circle width (r = 0.83, P < .0001) rather than best-fit circle area (r = 0.82, P < .0001). In the assessment of glenoid bone loss, the correlation between CT and arthroscopy (r = 0.91, P < .0001) was marginally better than that between MR imaging and arthroscopy (r = 0.84, P < .0001). The inter- and intrareader correlations of MR imaging-derived measurements of glenoid bone loss were excellent (R = 0.90-0.95). CONCLUSION: MR imaging assessment of glenoid bone loss, particularly with use of glenoid width, is almost as accurate as CT assessment.