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


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