Abstract
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 [...]
Highlights
Danon disease (DD)[1] 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
Considering the small number of cases described in the literature about DD and the gap in knowledge for an earlier approach, we aimed to describe the case of a patient with incidental diagnosis of DD, presenting a mutation not previously described in the literature and its five-year follow-up
The present study reports the case of late diagnosis of DD as the cause of HC, with a new genetic variant in heterozygosis NP_002285.1:p.Asn242Thrfs*41 in the LAMP2 protein encoding the protein Lysosome-associated membrane glycoprotein 2
Summary
Ricardo Cardoso Cardoso de Matos,[1] Amanda Cunha Soares,[1,2] Raquel Tavares Boy da Silva,[3] Evandro Tinoco Mesquita[1,4,5]. Danon disease (DD)[1] 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 patients commonly have the presentation of the classic triad of disease.[2]. The approach to cardiac manifestations includes implantable cardioverter defibrillator (ICD) and ablation to improve symptoms and decrease the risk of sudden death. Glycogen Storage Disease Type II/genetics; Cardiomyopathy Hypertrophic; Phenotype; LysosomalAssoiated Membrane Protein 2/genetics (DD Danon Disease). Considering the small number of cases described in the literature about DD and the gap in knowledge for an earlier approach, we aimed to describe the case of a patient with incidental diagnosis of DD, presenting a mutation not previously described in the literature and its five-year follow-up
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