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Fig. 1 | BMC Medical Genetics

Fig. 1

From: Case report of a 45-year old female Fabry disease patient carrying two alpha-galactosidase A gene mutation alleles

Fig. 1

Index patient’s imaging features of cardiac a-c and brain d-e involvement at FAZIT baseline visit. Please note that morphologic and late gadolinium enhancement cardiac MRI a-b reveals mild hypertrophy and marginal fibrotic scar tissue with only minimal intramural late gadolinium enhancement detectable. In two-dimensional speckle tracking c peak systolic strain is mildly reduced, visualizing in loco typico early stage Fabry cardiomyopathy in the posterior-lateral and antero-lateral walls (bull’s eye method). Brain MRI d-e shows residual lesions (encircled) due to previously suffered cryptogenic stroke

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