CLINICAL FEATURES AND DIAGNOSTIC ALGORITHMS OF CARDIOMYOPATHIES WITH RESTRICTIVE PHENOTYPE CAUSED BY CARDIAC TROPONIN I AND DESMIN GENES MUTATIONS

CLINICAL FEATURES AND DIAGNOSTIC ALGORITHMS OF CARDIOMYOPATHIES WITH RESTRICTIVE PHENOTYPE CAUSED BY CARDIAC TROPONIN I AND DESMIN GENES MUTATIONS

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The authors are citing the literature data and share their own experiences of observation of two patients with cardiomyopathy associated with restrictive phenotype caused by mutations in defined genes encoding the synthesis of cardiac troponin I and desmin gene. Particular attention of the authors i...

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Main Authors: M.V. Tural'chuk, G.A. Novik, A.Ya. Gudkova
Format: Article
Language:English
Published: Paediatrician Publishers, LLC 2011-08-01
Series:Pediatričeskaâ Farmakologiâ
Online Access:https://www.pedpharma.ru/jour/article/view/1255
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spelling doaj-54d0c84f06d34f6db34f1efca297a5cb2021-07-28T16:32:38ZengPaediatrician Publishers, LLCPediatričeskaâ Farmakologiâ1727-57762500-30892011-08-01841121161250CLINICAL FEATURES AND DIAGNOSTIC ALGORITHMS OF CARDIOMYOPATHIES WITH RESTRICTIVE PHENOTYPE CAUSED BY CARDIAC TROPONIN I AND DESMIN GENES MUTATIONSM.V. Tural'chuk0G.A. Novik1A.Ya. Gudkova2St-Petersburg Pediatric Medical AcademySt-Petersburg Pediatric Medical AcademyI.P. Pavlov Medical University, St-PetersburgThe authors are citing the literature data and share their own experiences of observation of two patients with cardiomyopathy associated with restrictive phenotype caused by mutations in defined genes encoding the synthesis of cardiac troponin I and desmin gene. Particular attention of the authors is paid to the importance of family anamnesis, which could allow to suppose hereditary disease character and the diagnostic value of genetic testing. The complex of the correct and timely executed diagnostic algorithm will favour optimization of the therapeutic tactics and possibly extend the life of the patient.Key words: cardiomyopathy, restrictive phenotype, cardiac troponin I desmin, gene mutations, diagnostics, treatment.https://www.pedpharma.ru/jour/article/view/1255
collection DOAJ
language English
format Article
sources DOAJ
author M.V. Tural'chuk
G.A. Novik
A.Ya. Gudkova
spellingShingle M.V. Tural'chuk
G.A. Novik
A.Ya. Gudkova
CLINICAL FEATURES AND DIAGNOSTIC ALGORITHMS OF CARDIOMYOPATHIES WITH RESTRICTIVE PHENOTYPE CAUSED BY CARDIAC TROPONIN I AND DESMIN GENES MUTATIONS
Pediatričeskaâ Farmakologiâ
author_facet M.V. Tural'chuk
G.A. Novik
A.Ya. Gudkova
author_sort M.V. Tural'chuk
title CLINICAL FEATURES AND DIAGNOSTIC ALGORITHMS OF CARDIOMYOPATHIES WITH RESTRICTIVE PHENOTYPE CAUSED BY CARDIAC TROPONIN I AND DESMIN GENES MUTATIONS
title_short CLINICAL FEATURES AND DIAGNOSTIC ALGORITHMS OF CARDIOMYOPATHIES WITH RESTRICTIVE PHENOTYPE CAUSED BY CARDIAC TROPONIN I AND DESMIN GENES MUTATIONS
title_full CLINICAL FEATURES AND DIAGNOSTIC ALGORITHMS OF CARDIOMYOPATHIES WITH RESTRICTIVE PHENOTYPE CAUSED BY CARDIAC TROPONIN I AND DESMIN GENES MUTATIONS
title_fullStr CLINICAL FEATURES AND DIAGNOSTIC ALGORITHMS OF CARDIOMYOPATHIES WITH RESTRICTIVE PHENOTYPE CAUSED BY CARDIAC TROPONIN I AND DESMIN GENES MUTATIONS
title_full_unstemmed CLINICAL FEATURES AND DIAGNOSTIC ALGORITHMS OF CARDIOMYOPATHIES WITH RESTRICTIVE PHENOTYPE CAUSED BY CARDIAC TROPONIN I AND DESMIN GENES MUTATIONS
title_sort clinical features and diagnostic algorithms of cardiomyopathies with restrictive phenotype caused by cardiac troponin i and desmin genes mutations
publisher Paediatrician Publishers, LLC
series Pediatričeskaâ Farmakologiâ
issn 1727-5776
2500-3089
publishDate 2011-08-01
description The authors are citing the literature data and share their own experiences of observation of two patients with cardiomyopathy associated with restrictive phenotype caused by mutations in defined genes encoding the synthesis of cardiac troponin I and desmin gene. Particular attention of the authors is paid to the importance of family anamnesis, which could allow to suppose hereditary disease character and the diagnostic value of genetic testing. The complex of the correct and timely executed diagnostic algorithm will favour optimization of the therapeutic tactics and possibly extend the life of the patient.Key words: cardiomyopathy, restrictive phenotype, cardiac troponin I desmin, gene mutations, diagnostics, treatment.
url https://www.pedpharma.ru/jour/article/view/1255
work_keys_str_mv AT mvturalchuk clinicalfeaturesanddiagnosticalgorithmsofcardiomyopathieswithrestrictivephenotypecausedbycardiactroponinianddesmingenesmutations
AT ganovik clinicalfeaturesanddiagnosticalgorithmsofcardiomyopathieswithrestrictivephenotypecausedbycardiactroponinianddesmingenesmutations
AT ayagudkova clinicalfeaturesanddiagnosticalgorithmsofcardiomyopathieswithrestrictivephenotypecausedbycardiactroponinianddesmingenesmutations
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