The distribution of hypertrophy in anderson fabry disease
نویسندگان
چکیده
Background AFD is an X linked disorder of lysosomal storage that can have various cardiac manifestations, most commonly resulting in LVH. Echocardiographic data on LVH distribution emphasised concentric hypertrophy in males and later onset in females with less hypertrophy. However this modality is often limited in visualisation of the left ventricular apex. Methods 27 patients (mean age 47, 33% males, a large cohort of female heterozygotes) with genetically proven AFD were assessed by CMR for hypertrophy, its distribution and LGE.
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Anderson-Fabry which is also known as Fabry disease is an X-linked recessive enzyme deficiency disorder. Its clinical manifestations are caused by storage of sphingolipids in the lysosomes of the endothelial, perithelial, and smooth muscle cells, which is due to alpha galactosidase A enzyme deficiency. Its hallmark dermatological manifestation is diffuse angiokeratomas known as ...
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