Danon’s disease as a cause of hypertrophic cardiomyopathy
Abstract
Hypertrophic cardiomyopathy is the most common inherited disease of the myocardium. The causes of the disease are heterogeneous; its primary form results from mutations in the genes encoding cardiac sarcomeric proteins; its secondary (metabolic and syndromic) forms develop due to mutations in the genes encoding non-sarcomeric proteins. Glycogenosis is the most common cause of the metabolic ones of hypertrophic cardiomyopathy. Danon’s disease (lysosome-associated membrane protein 2 (LAMP2-cardiomyopathy) is a form of glycogenosis and it is characterized by a typical triad: hypertrophic cardiomyopathy, mental retardation, and skeletal myopathy. The disease occurs with mutations in the LAMP2 gene; X-linked dominant inheritance. LAMP2-cardiomyopathy does not virtually differ in its clinical manifestations from the severe form of hypertrophic cardiomyopathy, which results from mutations in the sarcomeric protein genes. The disease is characterized by a poor progressive course with the high probability of causing sudden death or with the progression of severe heart failure. Implantation of a cardioverter defibrillator is a main method to prevent sudden cardiac death.
About the Authors
I. V. Leontyeva
Research Clinical Institute of Pediatrics, N.I. Pirogov Russian National Research Medical University, Moscow
Russian Federation
Russian Federation
D. A. Tsaregorodtsev
I.M. Sechenov First Moscow Medical University, Moscow
Russian Federation
Russian Federation
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Review
For citations:
Leontyeva I.V., Tsaregorodtsev D.A. Danon’s disease as a cause of hypertrophic cardiomyopathy. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2015;60(3):26-30. (In Russ.)
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