Abstract
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.
Highlights
Atrial dilatation is not a pathognomonic sign in Fabry disease as it is in cardiac amyloidosis
Hypertrophy is accompanied by variparallels left ventricular involvement when ous other findings on echocardiography during Valve abnormalities are observed frequently assessed with standard echocardiographic disease progression
It is of note that late ity of binary appearance to screen for Fabry is no reduction in right ventricular hypertro- enhancement in cardiac magnetic resonance disease or the ability to distinguish between phy under enzyme replacement therapy, which can be seen even in some non-hypertrophic Fabry cardiomyopathy and other hypertrophic is in contrast to the response of the left ventri- females, there is no evidence of wall diseases.[23,24,25]
Summary
Correspondence: Frank Weidemann, Medizinische Klinik und Poliklinik I, Markus Niemann, Frank Weidemann. Fabry disease is an X-linked lysosomal stor- is a rare finding as well as moderate or severe Received for publication: 11 July 2012. Fabry patients die due to cardiac reasons. This review provides echocardiographic guidance in Fabry disease and highc lights possible alterations of the hearts compor nents visualizable with echocardiography. Mm Introduction -co Fabry disease (FD) is an X-linked lysosomal storage disorder caused by a-galactosidase A n deficiency.[1] The genetic defect leads to proo gressive intracellular accumulation of Gl3 in N various tissues, including heart, kidney, vascu-. A prominent bulbus aortae of 40-44 mm is very common in middle-aged Fabry patients and might be linked to tissue alterations induced by Gl3 storage (Figure 1)
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