Protocol
  1. Anatomy module (A)
  2. LV function module (B)
  3. T1 Mapping module (K)
  4. LGE module (E)
Report
  1. Dimensions, mass (corrected for BSA) and function
    • LV: EDV, ESV , SV, EF, longitudinal function, mass
    • Regional wall motion abnormalities
  2. LGE pattern
  3. Native T1 and ECV (if available)
Key Points
  1. General
    • Multi-system lysosomal storage disease
    • X-linked (men > women)
  2. Disease pathophysiology:
    • Accumulation of globotriaosylceramide in the vascular endothelium, leading to ischemia and infarction in the kidney, heart and brain
  3. Common symptoms:
    • Acroparesthesia
    • Hypohydrosis
    • Palpitations (SV/V arrhythmias)
    • Proteinuria -> renal impairment
    • Hearing loss
  4. ECG:
    • Young age: Short PR (no delta wave)
    • Older age: AV block
    • Prolonged, high voltage QRS
  5. Concentric LVH
    • Relatively late disease manifestation (3rd decade in men, 4th decade in women)
    • Patterns of hypertrophy often indistinguishable from HCM
    • LVH associated with progressive myocardial fibrosis
  6. LGE
    • Present in 50% of cases
    • Mid-wall or subepicardial LGE of the inferolateral wall of mid to basal LV
  7. T1 mapping:
    • Native T1↓ of septum (< 940ms (1.5T))
    • ECV↓
    • Inferolateral LGE: pseudonormalisation native T1 normal/↑ possible if the effects of replacement fibrosis exceed the fatty-related T1 decrease
  8. Follow up:
    • Evaluate genetic testing
    • Enzyme replacement therapy (ERT) for α-galactosidase
    • LVH ↓ after ERT
  9. AFD is underdiagnosed (prevalent in dialysis patients, late-onset “HCM”)
Tips and Tricks
  1. Exclude more common cause of LVH (see DD LV hypertrophy chapter)
  2. Pseudonormalisation native T1 possible if the effects of replacement fibrosis exceed the fatty-related T1 decrease. ECV might help to differentiate.
  3. Elevated T1 in areas of LGE (inferolateral)
References
  1. Hoigné P, Attenhofer Jost CH, Duru F, et al. Simple criteria for differentiation of Fabry disease from amyloid heart disease and other causes of left ventricular hypertrophy. International Journal of Cardiology. 2006;111(3), 413–422.
  2. Sado DM, White SK, Piechnik SK, et al. Identification and assessment of Anderson-Fabry disease by cardiovascular magnetic resonance noncontrast myocardial T1 mapping. Circulation: Cardiovascular Imaging. 2013;6(3), 392–398.