OBJECTIVE: Cardiac magnetic resonance (CMR) has the potential to provide early detection of cardiac involvement in @entity2314 . We aimed to gain further insight into this by assessing a cohort of Fabry @entity1 using CMR. METHODS/RESULTS: Fifty genotype-positive @entity2314 (age 45  2   years; 50% male) referred for CMR and 39 matched controls (age 40  2   years; 59% male) were recruited. @entity1 had a mean Mainz severity score index of 15  2 (range 0-46), reflecting an overall mild degree of disease severity. Compared with controls, @entity2314 had a 34% greater @entity1002 ( @entity1002 ) index (82  5 vs 61  2   g/m(2), p=0.001) and had a significantly greater papillary muscle contribution to total @entity1002 (13  1 vs 6  0.5%, p<0.001), even in the absence of @entity4346 ( @entity4346 ). Late @entity2287 enhancement (LGE) was present in 15 @entity2314 (9/21 males and 6/23 females). The most common site for LGE was the basal inferolateral wall (93%, 14/15). There was a positive association between @entity1002 index and LGE. Despite this, there were two males and three females with no @entity4346 that displayed LGE. Of @entity2314 who were not on enzyme replacement therapy at enrolment (n=28), six were reclassified as having cardiac involvement (four @entity4346 -negative/LGE-positive, one @entity4346 -positive/LGE-positive and one @entity4346 -positive/LGE-negative). CONCLUSIONS: CMR was able to detect cardiac involvement in 48% of this Fabry cohort, despite the overall mild disease phenotype of the cohort. Of those not on ERT, 21% were reclassified as having cardiac involvement allowing improved risk stratification and targeting of therapy.

Cardiac involvement in genotype-positive @entity2314 XXXX assessed by cardiovascular MR.

@entity1 :: ('9606', 'Species') :: ['Patients', 'patients'] @entity2314 :: ('MESH:D000795', 'Disease') :: ['Fabry disease', 'Fabry subjects'] @entity4346 :: ('MESH:D017379', 'Disease') :: ['LVH', 'left ventricular hypertrophy'] @entity2287 :: ('MESH:D005682', 'Chemical') :: ['gadolinium'] @entity1002 :: ('MESH:D018487', 'Disease') :: ['LVM', 'left ventricular mass']
@entity1 :: (9606,Species) :: ['patients']
