A bimonthly publication part of the Brazilian Society of Cardiology portfolio of journals connected with ABC Cardiol publishing national and international scientific production in the field of cardiovascular sciences.
ISSN 2359-4802
eISSN 2359-5647
Ricardo Cardoso Cardoso de Matos
, Amanda Cunha Soares
, Raquel Tavares Boy da Silva
, Evandro Tinoco Mesquita
Ricardo Cardoso Cardoso de Matos
, Amanda Cunha Soares
, Raquel Tavares Boy da Silva
, Evandro Tinoco Mesquita
Introdução Danon disease (DD) is a rare, dominant X-linked disease caused by mutation of the LAMP2 gene, which encodes a lysosome-associated membrane glycoprotein, thereby affecting lysosomal deposition. DD is characterized by a classic triad of cardiomyopathy (featured by hypertrophic cardiomyopathy [HC]), skeletal myopathy, and cognitive changes. While female patients tend to have milder phenotypic manifestations, an isolated cardiac involvement, in addition to a later onset of symptoms, without the need for heart transplantation before the fourth decade of life, male […]
Keywords: Glycogen Storage Disease Type II/genetics; Cardiomyopathy Hypertrophic; Phenotype; Lysosomal-Assoiated Membrane Protein 2/genetics (DD Danon Disease)