Danon’s disease as a cause of hypertrophic cardiomyopathy
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 ge...
| Main Authors: | , |
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| Format: | Article |
| Language: | Russian |
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Ltd. “The National Academy of Pediatric Science and Innovation”
2016-03-01
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| Series: | Rossijskij Vestnik Perinatologii i Pediatrii |
| Subjects: | |
| Online Access: | https://www.ped-perinatology.ru/jour/article/view/187 |
| _version_ | 1797875344729964544 |
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| author | I. V. Leontyeva D. A. Tsaregorodtsev |
| author_facet | I. V. Leontyeva D. A. Tsaregorodtsev |
| author_sort | I. V. Leontyeva |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-10T01:46:09Z |
| format | Article |
| id | doaj.art-e4fe5d32e1394b49beca7fef6e1b161b |
| institution | Directory Open Access Journal |
| issn | 1027-4065 2500-2228 |
| language | Russian |
| last_indexed | 2024-04-10T01:46:09Z |
| publishDate | 2016-03-01 |
| publisher | Ltd. “The National Academy of Pediatric Science and Innovation” |
| record_format | Article |
| series | Rossijskij Vestnik Perinatologii i Pediatrii |
| spelling | doaj.art-e4fe5d32e1394b49beca7fef6e1b161b2023-03-13T09:12:40ZrusLtd. “The National Academy of Pediatric Science and Innovation”Rossijskij Vestnik Perinatologii i Pediatrii1027-40652500-22282016-03-016032630180Danon’s disease as a cause of hypertrophic cardiomyopathyI. V. Leontyeva0D. A. Tsaregorodtsev1Научно-исследовательский клинический институт педиатрии ГБОУ ВПО «Российский национальный исследовательский медицинский университет им. Н.И. Пирогова», МоскваГБОУ ВПО «Первый медицинский университет им. И.М. Сеченова», МоскваHypertrophic 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.https://www.ped-perinatology.ru/jour/article/view/187детигипертрофическая кардиомиопатияболезнь данонализосомассоцированный мембранный протеингликогенозвнезапная сердечная смертьпрофилактика |
| spellingShingle | I. V. Leontyeva D. A. Tsaregorodtsev Danon’s disease as a cause of hypertrophic cardiomyopathy Rossijskij Vestnik Perinatologii i Pediatrii дети гипертрофическая кардиомиопатия болезнь данона лизосомассоцированный мембранный протеин гликогеноз внезапная сердечная смерть профилактика |
| title | Danon’s disease as a cause of hypertrophic cardiomyopathy |
| title_full | Danon’s disease as a cause of hypertrophic cardiomyopathy |
| title_fullStr | Danon’s disease as a cause of hypertrophic cardiomyopathy |
| title_full_unstemmed | Danon’s disease as a cause of hypertrophic cardiomyopathy |
| title_short | Danon’s disease as a cause of hypertrophic cardiomyopathy |
| title_sort | danon s disease as a cause of hypertrophic cardiomyopathy |
| topic | дети гипертрофическая кардиомиопатия болезнь данона лизосомассоцированный мембранный протеин гликогеноз внезапная сердечная смерть профилактика |
| url | https://www.ped-perinatology.ru/jour/article/view/187 |
| work_keys_str_mv | AT ivleontyeva danonsdiseaseasacauseofhypertrophiccardiomyopathy AT datsaregorodtsev danonsdiseaseasacauseofhypertrophiccardiomyopathy |