Resumo

TOLDO¹, Cristian Maximiliano; MARCONETTO², Fernando Horacio  e  CAMACHO³, Leonardo. Anderson Fabry disease. Perspective from the cardiologist. Insuf. card. [online]. 2017, vol.12, n.2, pp.51-61. ISSN 1852-3862.

-Fabry disease is within the pathologies by lysosomal storage, with multisystemic or renal, cardiac or neurological repercussions. Among the most representative signs and symptoms are angiokeratomas, cornea verticillata, hypo-anhidrosis, abdominal pain, dyspnea, left ventricular hypertrophy, ventricular relaxation disorder, palpitations, nephropathy, acroparesthesias and cerebrovascular accidents. From the cardiological perspective, the echocardiogram in all its variants is of particular interest, and in recent years, a great surge of cardiac magnetic resonance. Several biomarkers are under development to identify the storage of globotriasylceramide. To the symptomatic treatment, enzymatic substitution therapy has been added intravenously since 2001 and, more recently, by pharmacological chaperones, for oral administration, for a special type of mutation. Its early detection is fundamental in this disease for a rapid establishment of the treatment and the search for the genetic defect in the rest of the family members.

Palavras-chave : Fabry disease; Ventricular hypertrophy; Echocardiogram; Globotriasylceramide; Renal insufficiency.

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