Ricardo Cardoso de Matos et al. 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 patients commonly have the presentation of the classic triad of disease.
The clues of the involvement of HC with pre-excitation and persistent increased troponin I in these individuals are related to the process of autophagy that contributes to cardiac remodeling. However, there is still no specific treatment for DD. The approach to cardiac manifestations includes implantable cardioverter defibrillator (ICD) and ablation to improve symptoms and decrease the risk of sudden death. In cases of advanced heart failure (HF), heart transplantation is an effective and safe measure. Studies for gene therapy are currently in progress. ,
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