Pediatric Cardiology

Biography

Biography: Sandra Matiz Mejia

Abstract

Fabry disease is a progressive X-linked disorder of glycosphingolipid metabolism caused by a deficiency of the Alfa -galactosidase lysosomal enzyme. The partial or complete deficiency of the lysosomal enzyme leads to an accumulation of neutral glycosphingolipids in the vascular endothelium and visceral tissues throughout the body. We can confirm the disease by demonstration of a low plasma Alfa-galactosidase A (Alfa-Gal A) activity. In the heart, glycosphingolipids deposition causes progressive concentric left ventricular hypertrophy (LVH) without dilation, severe loss of left ventricular systolic function and compromised diastolic function, mitral and aortic valvulopathy and disorders of the Atrioventricular conduction, repolarization or arrhythmias.
On electrocardiogram we can find: Prolongation of the QTc interval (> 440 ms), widening of corrected QRS, bundle branch block, Atrioventricular block, premature atrial contraction, premature ventricular contraction and Wolff-Parkinson-White syndrome.
The availability of enzyme replacement therapy (ERT) for this debilitating condition has led to the need for a deep knowledge from the Pediatric and Cardiology Pediatric groups in order to diagnose and treat it efficiently an rapidly. This will improve the quality of life and attenuate the cardiovascular compromise in pediatric patients with Fabry Disease.