Echocardiography in Fabry disease

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Markus Niemann
Frank Weidemann *
(*) Corresponding Author:
Frank Weidemann |


Fabry disease is an X-linked lysosomal storage disorder caused by alpha-galactosidase A deficiency. The genetic defect leads to progressive intracellular accumulation of Gl3 in various tissues, including heart, kidney, vascular endothelium and the nervous system. Cardiac involvement is frequent and since renal transplantation therapy became standard most Fabry patients die due to cardiac reasons. Left ventricular hypertrophy is the morphological hallmark of the disease. Hypertrophy can be accompanied by various other cardiac findings, which can be visualized using echocardiography. Especially the left ventricular geometry and the regional myocardial function can show major alterations during disease progression. This review provides echocardiographic guidance in Fabry disease and highlights possible alterations of the hearts components visualizable with echocardiography. The main findings are summarized in the Take home message sections.

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