2017

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2017/№4

Obvious signs of non‑obvious disease: Danon disease with gender variations of LAMP2‑cardiomyopathy phenotypes

Vaikhanskaya T. G.1, Sivitskaya L. N.2, Danilenko N. G.2, Kurushko T. V.1, Levdanskiy O. D.2, Davydenko О. G.2
1 – State Institution Republican Science and Practice Center "Cardiology", R. Luxemburg 110, Minsk 220036, Belarus
2 – Institute of Genetics and Cytology of Belarus National Academy of Sciences, Akademicheskaya 27, Minsk 220072, Belarus

Keywords: Danon disease, hypertrophic cardiomyopathy, dilated cardiomyopathy, LAMP2 gene mutations, LAMP2‑cardiomyopathy

DOI: 10.18087/rhfj.2017.4.2373

Danon disease (DD) is an X-linked, dominant disease caused by primary deficiency of lysosomal membrane protein 2 (LAMP2). The article presents a brief review of literature on complexity of DD diagnostics and two case reports of cardiomyopathy associated with mutations in the LAMP2 gene, which clearly evidenced clinical polymorphism and gender variations of DD phenotypes. This disease is a rare and difficult for identification multidisciplinary pathology with multiple systemic clinical manifestations, which require a comprehensive interaction of several specialists, cardiologists, neurologists, ophthalmologists, and geneticists. DD is characterized by an extremely unfavorable and steadily progressive course with a high risk of sudden death and severe HF. Considering the adverse prognosis of LAMP2-associated cardiomyopathy early diagnosis is of critical significance for identifying an adequate therapeutic strategy and timely performing heart transplantation as the most efficient treatment.
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Vaikhanskaya T. G., Sivitskaya L. N., Danilenko N. G., Kurushko T. V., Levdanskiy O. D., Davydenko О. G. Obvious signs of non‑obvious disease: Danon disease with gender variations of LA MP2‑cardiomyopathy phenotypes. Russian Heart Failure Journal. 2017;18(4):303–312

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