Pediatrics & Therapeutics
Open Access
ISSN: 2161-0665
+44 1478 350008
ISSN: 2161-0665
+44 1478 350008
Sandra Matiz Mejia
Universidad El Bosque, Colombia
Posters-Accepted Abstracts: Pediat Therapeut
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 accumulation of neutral glycosphingolipids in the vascular endothelium and visceral tissues throughout the body. In the heart, glycosphingolipids deposition causes progressive left ventricular hypertrophy (LVH). We can confirm the disease by demonstration of a low plasma alfa-galactosidase A (alfa-Gal A) activity. Also, diagnose and make follow-up of the patients with electrocardiogram, chest radiograph, echocardiogram, coronary arteriography or cardiac magnetic resonance imaging. On electrocardiogram we can find: prolongation of the QTc interval (>440 ms), widening of corrected QRS, left ventricular hypertrophy, bundle branch block, atrioventricular block, premature atrial contraction, premature ventricular contraction and Wolff-Parkinson-White syndrome. We can also make analysis of genomic DNA and observe alfa-Gal A gene mutation. 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, treat efficiently and rapidly, to improve the quality of life in pediatric patients with Fabry Disease.
Email: sandramatiz@gmail.com