What is the role of Fabry disease in the etiology of dilated cardiomyopathy?

Updated: Nov 28, 2018
  • Author: Vinh Q Nguyen, MD; Chief Editor: Gyanendra K Sharma, MD, FACC, FASE  more...
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Answer

Fabry disease is an X-linked recessive lysosomal storage disease that involves alpha galactosidase A deficiency, which leads to accumulation of glycosphingolipid deposition in the myocardium, skin, and kidneys. [49]

Echocardiographic findings of Fabry disease include concentric LV hypertrophy with diastolic dysfunction and normal LVEF and dimension. Athough such features may mimic hypertrophic cardiomyopathy, distinguishing characteristics of Fabry disease include the absence of asymmetrical hypertrophy causing LV outflow tract obstruction and a “binary” myocardial appearance due to the increased echogenicity of the subendocardial layer owing to the sphingolipid presence, paralleled by a less echogenic myocardium. [50, 51, 52] Cardiac MRI (CMRI) typically shows focal inferolateral midwall LGE sparing the subendocardium. [53, 54]


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