The variation of morphological and functional cardiac manifestation in Fabry disease: potential implications for the time course of the disease

Aims The aim of this clinical cross-sectional study was to investigate the cardiac interrelation of morphological and functional abnormalities in patients with Fabry disease. Methods and results Fifty-one patients (5–78 years) were compared with 25 controls (8–77 years). In all subjects, end-diastolic thickness of the left ventricle was measured by echocardiography and ultrasonic peak systolic strain rate (SR) was extracted to assess regional myocardial function. Magnetic resonance imaging was performed to assess late-enhancement for the detection of myocardial fibrosis in Fabry patients (n ¼ 39). In patients, women ,20 years of age had no hypertrophy, no late-enhancement, and normal radial and longitudinal function (SR longitudinal ¼ 21.7 + 0.5 s 21 ;