Atypical patterns of cardiac involvement in Fabry disease

BMJ Case Rep. 2016 Mar 17:2016:bcr2015213819. doi: 10.1136/bcr-2015-213819.


A 58-year-old woman was referred to our cardiology service with chest pain, exertional dyspnoea and palpitations on a background of known Fabry disease diagnosed with genetic testing in 1994. ECG showed sinus rhythm, shortened PR interval, widespread t wave inversion, q waves in the lateral leads and left ventricular hypertrophy (LVH). Coronary angiogram showed only mild atheroma. Transthoracic echocardiogram showed anterolateral LVH and reduced left ventricular cavity size in keeping with Fabry cardiomyopathy. Cardiac MRI demonstrated asymmetric hypertrophy with evidence of diffuse myocardial fibrosis in the maximally hypertrophied segments from base to apex with late gadolinium enhancement in the anterior and anteroseptal walls. This was quite an atypical appearance for Fabry cardiomyopathy. This case highlights the heterogeneity of patterns of cardiac involvement that may be associated with this rare X-linked lysosomal disorder.

Publication types

  • Case Reports

MeSH terms

  • Cardiomyopathy, Hypertrophic / diagnostic imaging
  • Cardiomyopathy, Hypertrophic / etiology
  • Chest Pain / etiology
  • Coronary Angiography
  • Diagnosis, Differential
  • Dyspnea / etiology
  • Echocardiography
  • Electrocardiography
  • Fabry Disease / complications*
  • Fabry Disease / genetics
  • Female
  • Heart / physiopathology*
  • Humans
  • Hypertrophy, Left Ventricular / diagnostic imaging
  • Hypertrophy, Left Ventricular / etiology*
  • Magnetic Resonance Imaging
  • Middle Aged