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Utility of Cardiac MRI in Anderson Fabry Disease
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Author: Mahi Ashwath MD, FACC, FASE

Date: 11/30/2017

Indications and Purpose of the Scan

  • CMR is an excellent way to non-invasively diagnose cardiac involvement in Anderson Fabry disease (AFD). CMR can help differentiate Fabry disease from other potential causes of cardiomyopathy. CMR is especially valuable in diagnosing patients mislabelled as hypertrophic cardiomyopathy.

Why CMR (specific advantages)

  • CMR provides a non-invasive method to assess structure, function, and abnormal scar in the extracellular tissues via late gadolinium enhancement (LGE). Concentric thickening and inferolateral, mid- myocardial scar are the most common manifestations of AFD, but apical and asymmetric septal hypertrophy has also been described. Significant hypertrophy is associated with ventricular arrhythmia. Male patients have higher incidence of hypertrophy compared to female patients. However, among men, myocardial fibrosis generally occurs in those with left ventricular hypertrophy. In women, myocardial fibrosis can occur without left ventricular hypertrophy.
  • Noncontrast T1 mapping was found to be a useful measure in patients with Fabry disease. The values are significantly lower in Fabry disease, compared to healthy volunteers and patients with other confounding diseases (aortic stenosis, hypertrophic cardiomyopathy, hypertension) causing left ventricular hypertrophy. T1 values showed pseudonormalization or elevation in the left ventricular inferolateral wall, correlating with the presence or absence of late gadolinium enhancement. (1, 2) Female subjects had lower LV mass and wall thickness, longer myocardial T1 values and larger extracellular volume suggesting a key sex difference in cardiac remodeling (2).



  • Any implanted device that is not MRI compatible
  • Inability to lie flat
  • Inability to tolerate the scan
  • Altered mental status
  • Severe arrhythmias


  1.  Deva et al. Cardiovascular magnetic resonance demonstration of the spectrum of morphological phenotypes and patterns of myocardial scarring in Anderson- Fabry disease. JCMR 2016 18:14
  2.  De Cobelli F, Esposito A, Belloni E, et al. Delayed-enhanced cardiac MRI for differentiation of Fabry's disease from symmetric hypertrophic cardiomyopathy. AJR Am J Roentgenol 2009; 192:W97.
  3.  Weidemann F, Niemann M, Breunig F, et al. Long-term effects of enzyme replacement therapy on fabry cardiomyopathy: evidence for a better outcome with early treatment. Circulation 2009; 119:524.
  4.  Niemann M, Herrmann S, Hu K, et al. Differences in Fabry cardiomyopathy between female and male patients: consequences for diagnostic assessment. JACC Cardiovasc Imaging 2011; 4:592.
  5.  Moon JC, Sheppard M, Reed E, et al. The histological basis of late gadolinium enhancement cardiovascular magnetic resonance in a patient with Anderson-Fabry disease. J Cardiovasc Magn Reson 2006; 8:479.
  6.  Moon JC, Sachdev B, Elkington AG, et al. Gadolinium enhanced cardiovascular magnetic resonance in Anderson-Fabry disease. Evidence for a disease specific abnormality of the myocardial interstitium. Eur Heart J 2003; 24:2151.
  7. Identification and assessment of Anderson-Fabry disease by cardiovascular magnetic resonance noncontrast myocardial T1 mapping. Circ Cardiovasc Imaging. 2013 May 1;6(3):392-8, Sado DM1White SKPiechnik SK et al
  8. T₁ mapping with cardiovascular MRI is highly sensitive for Fabry disease independent of hypertrophy and sex. Circ Cardiovasc Imaging. 2013 Sep;6(5):637-45. Thompson RB1Chow KKhan A et al.
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