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Cardiac involvement in genotype-positive Fabry disease patients assessed by cardiovascular MR
  1. Rebecca Kozor1,2,3,
  2. Stuart M Grieve1,2,4,
  3. Michel C Tchan2,5,
  4. Fraser Callaghan2,
  5. Christian Hamilton-Craig6,7,
  6. Charles Denaro7,8,
  7. James C Moon9,
  8. Gemma A Figtree1,2,3
  1. 1North Shore Heart Research Group, Kolling Institute of Medical Research, University of Sydney, Sydney, New South Wales, Australia
  2. 2Sydney Translational Imaging Laboratory, Sydney Medical School and Charles Perkins Centre, University of Sydney, Sydney, New South Wales, Australia
  3. 3Department of Cardiology, Royal North Shore Hospital, Sydney, New South Wales, Australia
  4. 4Department of Radiology, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia
  5. 5Genetic Medicine, Westmead Hospital, Sydney, New South Wales, Australia
  6. 6Heart & Lung Institute, The Prince Charles Hospital, Brisbane, New South Wales, Australia
  7. 7School of Medicine, University of Queensland, Brisbane, New South Wales, Australia
  8. 8Internal Medicine & Aged Care, Royal Brisbane and Woman's Hospital, Brisbane, New South Wales, Australia
  9. 9Cardiac Imaging Department, Barts Heart Centre, London, UK
  1. Correspondence to Dr Gemma Figtree, Department of Cardiology, Royal North Shore Hospital, St Leonards, NSW 2065, Australia; gemma.figtree{at}sydney.edu.au

Abstract

Objective Cardiac magnetic resonance (CMR) has the potential to provide early detection of cardiac involvement in Fabry disease. We aimed to gain further insight into this by assessing a cohort of Fabry patients using CMR.

Methods/results Fifty genotype-positive Fabry subjects (age 45±2 years; 50% male) referred for CMR and 39 matched controls (age 40±2 years; 59% male) were recruited. Patients had a mean Mainz severity score index of 15±2 (range 0–46), reflecting an overall mild degree of disease severity. Compared with controls, Fabry subjects had a 34% greater left ventricular mass (LVM) index (82±5 vs 61±2 g/m2, p=0.001) and had a significantly greater papillary muscle contribution to total LVM (13±1 vs 6±0.5%, p<0.001), even in the absence of left ventricular hypertrophy (LVH). Late gadolinium enhancement (LGE) was present in 15 Fabry subjects (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 LVM index and LGE. Despite this, there were two males and three females with no LVH that displayed LGE. Of Fabry subjects who were not on enzyme replacement therapy at enrolment (n=28), six were reclassified as having cardiac involvement (four LVH-negative/LGE-positive, one LVH-positive/LGE-positive and one LVH-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.

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