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

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.

doi:https://doi.org/

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.

More about the authors

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

Read: 1267 times

Download PDF (RU)

Contact the author

Table of contents

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 2026 Кардиология и сердечно-сосудистая хирургия (Russian Journal of Cardiology and Cardiovascular Surgery)

Использование инфографики авторами научных работ

Close metadata

Abstract:

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

Close metadata

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.