Fabry's disease

  Due to deficiency of the lysosomal enzyme alpha-galactosidase A, which degrades glycosphingolipids.

  Ceramide trihexoside (globotriaosylceramide) accumulates in myocardial cells.

  Morphologically, cardiac involvement mimics hypertrophic cardiomyopathy.




ECG findings in Fabry's disease

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

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

  Various types of atrioventricular blocks

  Intraventricular conduction block (QRS widening)

  Paroxysmal atrial fibrillation.

  ECG findings suggestive of sick sinus syndrome

  Ventricular arrhythmias




References

  Am J Cardiol 2010;106:1492-1499

  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

  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.