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59-year-old female with breathlessness
  1. Alessandra Scatteia1,2,
  2. Estefania De Garate1,
  3. Chiara Bucciarelli-Ducci1
  1. 1CMR-unit Bristol Heart Institute, Bristol Heart Institute, University Hospitals Bristol NHS Foundation Trust, Bristol, UK
  2. 2Department of Biomedical science, Federico II, University of Naples, Naples, Italy
  1. Correspondence to Dr Alessandra Scatteia, Federico II, University of Naples, Naples 80138, Italy; a.scatteia{at}


Clinical introduction A 59-year-old female underwent an electrocardiogram (ECG) and echocardiographic screening. Her brother died at quite a young age of kidney failure. Resting ECG showed borderline voltage criteria for left ventricular hypertrophy (LVH), with marked widespread T-wave inversion. Echocardiogram was normal, but in consideration of exertional breathlessness and abnormal baseline ECG, she underwent a coronary angiogram, which showed unobstructed coronaries. She was then referred to have a cardiac MR (CMR) for further characterisation. CMR images were acquired with a 1.5 T scanner and the imaging protocol included Steady-State Free Precession (SSFP) cine images (Figure 1A) as well as late gadolinium enhancement (LGE) images in the long-axis and short-axis planes covering the whole left ventricle (Figure 1B). In addition, native and postcontrast T1 mapping (Modified Look-Locker (MOLLI)) images were acquired for further tissue characterisation (Figure 1C and D, respectively).

Question What is the most likely diagnosis based on CMR findings?

  1. Anderson-Fabry's disease (AFD)

  2. Cardiac amyloidosis

  3. Genotype (+), phenotype (−) hypertrophic cardiomyopathy (HCM)

  4. Myocardial iron overload

  5. Normal heart

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