Fatal acute myocarditis in patient with rare variant of desminopathy (clinical, morphological, genetic diagnosis)

Blagova O.V.

GBOU VPO Pervyĭ MGMU im. I.M. Sechenova

Zakliaz'minskaia E.V.

FGBU RNTsKh im. akad. B.V. Petrovskogo RAMN

Kupriianova A.G.

FNTs transplantologii i iskusstvennykh organov im. akad. V.I. Shumakova

Nedostup A.V.

GBOU VPO Pervyĭ MGMU im. I.M. Sechenova

Sergushkina N.G.

GBOU VPO Pervyĭ MGMU im. I.M. Sechenova

Dadali E.L.

FGBU Mediko-geneticheskiĭ nauchnyĭ tsentr RAMN, Moskva

Kogan E.A.

Nauchnyĭ tsentr akusherstva, ginekologii i perinatologii im. akad. V.I. Kulakova, Moskva

Sedov V.P.

Pervyĭ MGMU im. I.M. Sechenova

Gagarina N.V.

GBOU VPO Pervyĭ MGMU im. I.M. Sechenova

Zaĭdenov V.A.

FGBU Mediko-geneticheskiĭ nauchnyĭ tsentr RAMN, Moskva

Fatal acute myocarditis in patient with rare variant of desminopathy (clinical, morphological, genetic diagnosis)

Authors:

Blagova O.V., Zakliaz'minskaia E.V., Kupriianova A.G., Nedostup A.V., Sergushkina N.G., Dadali E.L., Kogan E.A., Sedov V.P., Gagarina N.V., Zaĭdenov V.A.

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Journal: Russian Journal of Cardiology and Cardiovascular Surgery. 2012;5(5): 75‑82

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To cite this article:

Blagova OV, Zakliaz'minskaia EV, Kupriianova AG, et al. . Fatal acute myocarditis in patient with rare variant of desminopathy (clinical, morphological, genetic diagnosis). Russian Journal of Cardiology and Cardiovascular Surgery. 2012;5(5):75‑82. (In Russ.)

Подписка 2025-2 (Russian Journal of Cardiology and Cardiovascular Surgery)

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Keywords:

primary myopathy

myodistrophy

cardiomyopathy

myocarditis

desminopathy

DES gene

medical genetics consulting.

Authors:

Blagova O.V.

GBOU VPO Pervyĭ MGMU im. I.M. Sechenova

Zakliaz'minskaia E.V.

FGBU RNTsKh im. akad. B.V. Petrovskogo RAMN

Kupriianova A.G.

FNTs transplantologii i iskusstvennykh organov im. akad. V.I. Shumakova

Nedostup A.V.

GBOU VPO Pervyĭ MGMU im. I.M. Sechenova

Sergushkina N.G.

GBOU VPO Pervyĭ MGMU im. I.M. Sechenova

Dadali E.L.

FGBU Mediko-geneticheskiĭ nauchnyĭ tsentr RAMN, Moskva

Kogan E.A.

Nauchnyĭ tsentr akusherstva, ginekologii i perinatologii im. akad. V.I. Kulakova, Moskva

Sedov V.P.

Pervyĭ MGMU im. I.M. Sechenova

Gagarina N.V.

GBOU VPO Pervyĭ MGMU im. I.M. Sechenova

Zaĭdenov V.A.

FGBU Mediko-geneticheskiĭ nauchnyĭ tsentr RAMN, Moskva

List of references:

Rybakova M.G., Kuznetsova Sh.A., Gudkova A.Ya. i dr. Desmin-oposredovannaya kardiomiopatiya. Arkh patol 2011; 4: 56-59.
Goldfarb L.G., Dalakas M.C. Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease. J Clin Invest 2009; 119: 7: 1806-1813.
Hammer E., Phong T.Q., Steil L. et al. Viral myocarditis induced by Coxsackievirus B3 in A.BY/SnJ mice: analysis of changes in the myocardial proteome. Proteomics 2010; 10: 9: 1802-1818.
He Y., Zhang Z., Hong D. et al. Myocardial fibrosis in desmin-related hypertrophic cardiomyopathy. J Cardiovasc Magn Reson 2010; 12: 68.
Hong D.J., Zhang W., Jiang T.Y. et al. [Clinical characteristics and desmin mutations in patients with desminopathy associated cardiomyopathy from 5 Chinese families]. Zhonghua Xin Xue Guan Bing Za Zhi 2010; 38: 5: 420-424.
Klauke B., Kossmann S., Gaertner A. et al. De novo desmin-mutation N116S is associated with arhythmogenic right ventricular cardiomyopathy. Hum Mol Genet 2010; 19: 23: 4595-4607.
Kostareva A., Gudkova A., Sjoberg G. et al. Desmin mutations in a St. Petersburg cohort of cardiomyopathies. Acta Myol 2006; 25: 3: 109-115.
Kostareva A., Sjoberg G., Gudkova A. et al. Desmin A213V substitution represents a rare polymorphism but not a mutation and is more prevalent in patients with heart dilation of various origins. Acta Myol 2011; 30: 1: 42-45.
Kouloumenta A., Mavroidis M., Capetanaki Y. Proper perinuclear localization of the TRIM-like protein myospryn requires its binding partner desmin. J Biol Chem 2007; 282: 35211-35221.
Kurki P., Karjalainen J., Hautanen A., Virtanen I. Desmin antibodies in acute infectious myopericarditis. APMIS 1989; 97: 6: 527-532.
Mavrogeni S., Papavasiliou A., Spargias K. et al. Myocardial inflammation in Duchenne Muscular Dystrophy as a precipitating factor for heart failure: a prospective study. BMC Neurol 2010; 10: 33.
Miyamoto Y., Akita H., Shiga N. et al. Frequency and clinical characteristics of dilated cardiomyopathy caused by desmin gene mutation in a Japanese population. Eur Heart J 2001; 22: 24: 2284-2289.
Otten E., Asimaki A., Maass A. et al. Desmin mutations as a cause of right ventricular heart failure affect the intercalated disks. Heart Rhythm 2010; 7: 8: 1058-1064.
Tannous P., Zhu H., Johnstone J.L. et al. Autophagy is an adaptive response in desmin-related cardiomyopathy. Proc Natl Acad Sci USA 2008; 105: 28: 9745-9750.
Taylor M.R., Slavov D., Ku L. et al. Prevalence of desmin mutations in dilated cardiomyopathy. Circulation 2007; 115: 10: 1244-1251.
van Spaendonck-Zwarts K., van Hessem L., Jongbloed J.D. et al. Desmin-related myopathy: a review and meta-analysis. Clin Genet 2010; 20: 5: 219-228.
Vrabie A., Goldfarb L.G., Shatunov A. et al. The enlarging spectrum of desminopathies: new morphological findings, eastward geographic spread, novel exon 3 desmin mutation. Acta Neuropathol 2005; 109: 4: 411-417.
Zhao P., Sharma A.C., Ren J. Pathogenesis and therapy of autoimmunity-induced dilated cardiomyopathy. Front Biosci 2009; 14: 1708-1715.
Zhu Y., Mao Z., Lou D., Zhang H. [The expression of connexin 43 and desmin in viral myocarditis]. Zhonghua Bing Li Xue Za Zhi 2000; 29: 4: 288-290.

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