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Case Reports: Emery...
Case Reports: Emery-Dreifuss Muscular Dystrophy Presenting as a Heart Rhythm Disorders in Children
- Article/chapterEnglish2021
Publisher, publication year, extent ...
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2021-05-07
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Frontiers Media SA,2021
Numbers
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LIBRIS-ID:oai:prod.swepub.kib.ki.se:146761768
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http://kipublications.ki.se/Default.aspx?queryparsed=id:146761768URI
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https://doi.org/10.3389/fcvm.2021.668231DOI
Supplementary language notes
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Language:English
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Summary in:English
Part of subdatabase
Classification
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Subject category:vet swepub-contenttype
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Subject category:art swepub-publicationtype
Notes
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Emery-Dreifuss muscular dystrophy (EDMD) is inherited muscle dystrophy often accompanied by cardiac abnormalities in the form of supraventricular arrhythmias, conduction defects and sinus node dysfunction. Cardiac phenotype typically arises years after skeletal muscle presentation, though, could be severe and life-threatening. The defined clinical manifestation with joint contractures, progressive muscle weakness and atrophy, as well as cardiac symptoms are observed by the third decade of life. Still, clinical course and sequence of muscle and cardiac signs may be variable and depends on the genotype. Cardiac abnormalities in patients with EDMD in pediatric age are not commonly seen. Here we describe five patients with different forms of EDMD (X-linked and autosomal-dominant) caused by the mutations in EMD and LMNA genes, presented with early onset of cardiac abnormalities and no prominent skeletal muscle phenotype. The predominant forms of cardiac pathology were atrial arrhythmias and conduction disturbances that progress over time. The presented cases discussed in the light of therapeutic strategy, including radiofrequency ablation and antiarrhythmic devices implantation, and the importance of thorough neurological and genetic screening in pediatric patients presenting with complex heart rhythm disorders.
Added entries (persons, corporate bodies, meetings, titles ...)
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Yakovleva, E
(author)
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Fetisova, S
(author)
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Vershinina, T
(author)
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Lebedeva, V
(author)
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Lyubimtseva, T
(author)
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Lebedev, D
(author)
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Mitrofanova, L
(author)
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Ryzhkov, A
(author)
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Sokolnikova, P
(author)
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Fomicheva, Y
(author)
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Kozyreva, A
(author)
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Zhuk, S
(author)
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Smolina, N
(author)
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Zlotina, A
(author)
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Pervunina, T
(author)
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Kostareva, AKarolinska Institutet
(author)
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Vasichkina, E
(author)
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Karolinska Institutet
(creator_code:org_t)
Related titles
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In:Frontiers in cardiovascular medicine: Frontiers Media SA8, s. 668231-2297-055X
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- By the author/editor
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Kovalchuk, T
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Yakovleva, E
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Fetisova, S
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Vershinina, T
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Lebedeva, V
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Lyubimtseva, T
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show more...
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Lebedev, D
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Mitrofanova, L
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Ryzhkov, A
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Sokolnikova, P
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Fomicheva, Y
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Kozyreva, A
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Zhuk, S
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Smolina, N
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Zlotina, A
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Pervunina, T
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Kostareva, A
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Vasichkina, E
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- Articles in the publication
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Frontiers in car ...
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Karolinska Institutet