Fabry disease: a functional and anatomical study of cardiac manifestations in 20 hemizygous male patients

M Senechal, D P Germain
Clinical Genetics 2003, 63 (1): 46-52
Fabry disease (FD, OMIM 301500) is an X-linked disorder of glycosphingolipid metabolism resulting from the deficient activity of alpha-galactosidase A, a lysosomal acid hydrolase, leading to progressive lysosomal accumulation of incompletely metabolized neutral glycosphingolipids. Cardiac involvement is frequent. The objective of this study was to characterize the cardiac abnormalities in male patients affected with classic Fabry disease and define the context in which the clinicians were able to make the diagnosis. Clinical evaluation, laboratory tests, electrocardiography (ECG) and echocardiography were performed in 20 hemizygous men (mean age 39 years, range 12-65 years). The context of diagnosis was obtained by review of patients' charts. Left ventricular hypertrophy (LVH) and/or concentric remodeling were found in 12 patients (60%). Structural changes in mitral and aortic valves were found in 25% and 10% of cases, respectively. The sensitivity of the ECG Romhilt-Estes score for LVH was high (80%). Short PR interval (40%), ST segment abnormalities and conduction delay were frequent on ECG. Left ventricular mass index, ECG scores for LVH and systolic pulmonary pressure correlated positively with age. There was no relation between classic vascular risk factors and coronary artery disease, transient ischemic attack (TIA) or stroke. Diagnosis of Fabry disease was frequently suggested by nephrologists, dermatologists or geneticists. Echocardiograph and ECG abnormalities are frequently observed in patients with Fabry disease. Cardiologists should be aware of the diagnosis of Fabry disease in patients presenting with LVH, concentric remodeling, mitral and aortic valve thickening on echocardiography, short PR interval and conduction defects on ECG.

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