59-year-old female with breathlessness

Heart. 2016 Oct 15;102(20):1654. doi: 10.1136/heartjnl-2016-309836. Epub 2016 Jun 22.

Abstract

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? Anderson-Fabry's disease (AFD)Cardiac amyloidosisGenotype (+), phenotype (-) hypertrophic cardiomyopathy (HCM)Myocardial iron overloadNormal heart.

Publication types

  • Case Reports

MeSH terms

  • Biomarkers / analysis
  • Dyspnea / diagnosis
  • Fabry Disease / complications*
  • Fabry Disease / diagnostic imaging
  • Fabry Disease / enzymology
  • Female
  • Humans
  • Magnetic Resonance Imaging, Cine
  • Middle Aged
  • alpha-Galactosidase / analysis

Substances

  • Biomarkers
  • GLA protein, human
  • alpha-Galactosidase

Supplementary concepts

  • Fabry Disease, Cardiac Variant