Abstract
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.
Highlights
Anderson Fabry Disease (AFD) is an X linked disorder of lysosomal storage that can have various cardiac manifestations, most commonly resulting in left ventricular hypertrophy (LVH)
Echocardiographic data on LVH distribution emphasised concentric hypertrophy in males and later onset in females with less hypertrophy. This modality is often limited in visualisation of the left ventricular apex
27 patients with genetically proven AFD were assessed by CMR for hypertrophy, its distribution and LGE
Summary
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. This modality is often limited in visualisation of the left ventricular apex
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