Fabry's disease

  X-linked lysosomal storage disorder.

  Lysosomal enzyme alpha-galactosidase A degrades glycosphingolipids.

  Deficient
alpha-galactosidase activity leads to the deposition of globotriaosylceramide in cells and tissues.

      Ceramide trihexoside = globotriaosylceramide

  Morphologically, cardiac involvement mimics hypertrophic cardiomyopathy.

  ECG abnormalities in Fabry disease are
frequent but nonspecific.



ECG findings in Fabry's disease

  ECG signs of left ventricular hypertrophy (20-60%)

  Short PR interval without delta wave (20-40%)

      (due to accelerated atrioventricular conduction; not due to accessory pathway).

 
Negative T waves (common).

  Intraventricular conduction block (
QRS widening)

 
Paroxysmal atrial fibrillation.

  Various types of
atrioventricular blocks (more common in terminal stage cardiac Fabry disease)

  ECG findings suggestive of
sick sinus syndrome (more common in terminal stage cardiac Fabry disease)

 
Ventricular arrhythmias (more common in terminal stage cardiac Fabry disease)



References (including links to free full-text articles)

  Tex Heart Inst J 2016;43(6):531-533.

  Clin Cardiol 2018 Jun 30. doi: 10.1002/clc.23019.

  JIMD Rep 2015;28:19-28.

  Heart 2011;97(6):485-490.

  Heart 2010;96(21):1782-1783.

  Am J Cardiol 2010;106:1492-1499

  Arch Intern Med 2009;169(20):1925-1926

  Pacing Clin Electrophysiol 2008;31(6):782-783

  Europace 2006;8:1045-1047

  Heart 2006;92:685

  N Engl J Med 2005;352:362-372

  N Engl J Med 2003;348:1186-1187

  Circulation 2007;116:e350-351

  Br Heart J 1992;68:323-325

  Br Heart J 1987;57:296-299

  Postgrad Med J 1986;62:285-287

  Angiology 1978;29(7):562-568

  J Am Coll Cardiol 2009;55:1769-1779.

  Journal of Cardiology 2008;51:50-59

  Am J Cardiol 2005;96:842-846.

  Eur J Pediatr 2003;162:767-72.

  Acta Paediatr Suppl 2002;91:15-20.





ECG 1. The ECG above belongs to a 40 years-old man with Fabry disease and chronic renal failure.
He had undergone enzyme therapy for Fabry disease.
ECHOcardiography, performed on the same day with the above ECG, showed normal left ventricular wall thickness.
However, the ECG shows left ventricular hypertrophy according to the Sokolow Lyon criteria.
ECHOcardiography also showed normal left ventricular systolic function.
He does not complain of chest pain. He does not have known coronary artery disease.
Leads I, II, III, aVF and V4-to-V6 show symmetrically negative T waves.
Lead aVR shows upright T waves with negative P wave and QRS complexes.

Click here for a more detailed ECG





ECG 2. The ECG above belongs to a 43 years-old man with Fabry disease and chronic renal failure.
Leads II, III, aVF and V4-to-V6 show negative T waves.
Lead aVR shows upright T waves.
The above ECG was recorded at a paper speed of 50 mm/second and at a calibration of 10 mm/mV.

Dr. Peter Kukla has donated the above ECG to our website.

Click here for a more detailed ECG