Phenotype variation of hypertrophic cardiomyopathy in carriers of the p.Arg870His pathogenic variant in the MYH7 gene
The review analyzes variability of clinical manifestations of p.Arg870His in the MYH7 gene, which is repeatedly registered in patients with hypertrophic cardiomyopathy (HCM). The analysis involves the data from scientific publications obtained as a search result in the PubMed, СlinVar, and eLibrary....
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| Format: | Article |
| Language: | English |
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Siberian State Medical University (Tomsk)
2022-10-01
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| Series: | Бюллетень сибирской медицины |
| Subjects: | |
| Online Access: | https://bulletin.ssmu.ru/jour/article/view/4922 |
| _version_ | 1797872798981423104 |
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| author | A. N. Kucher N. R. Valiakhmetov R. R. Salakhov M. V. Golubenko E. N. Pavlyukova M. S. Nazarenko |
| author_facet | A. N. Kucher N. R. Valiakhmetov R. R. Salakhov M. V. Golubenko E. N. Pavlyukova M. S. Nazarenko |
| author_sort | A. N. Kucher |
| collection | DOAJ |
| description | The review analyzes variability of clinical manifestations of p.Arg870His in the MYH7 gene, which is repeatedly registered in patients with hypertrophic cardiomyopathy (HCM). The analysis involves the data from scientific publications obtained as a search result in the PubMed, СlinVar, and eLibrary.ru databases, as well as authors’ own results. A wide range of phenotypic manifestations have been revealed in carriers of p.Arg870His, from the asymptomatic to severe course, rapid progression, and early death. The review considers possible factors that modify the effect of the pathogenic variant (i.e. dosage of the pathogenic variant, the presence of other unfavorable genetic variants, etc.). The importance of accumulating information on the clinical features of HCM in the carriers of specific gene variants is emphasized in order to clarify their pathogenicity and to identify factors modifying the clinical outcome, which is important for the choice of the treatment strategy for HCM. |
| first_indexed | 2024-04-10T01:04:46Z |
| format | Article |
| id | doaj.art-f5165208c4c04d87a554c0e473749b95 |
| institution | Directory Open Access Journal |
| issn | 1682-0363 1819-3684 |
| language | English |
| last_indexed | 2024-04-10T01:04:46Z |
| publishDate | 2022-10-01 |
| publisher | Siberian State Medical University (Tomsk) |
| record_format | Article |
| series | Бюллетень сибирской медицины |
| spelling | doaj.art-f5165208c4c04d87a554c0e473749b952023-03-13T09:58:28ZengSiberian State Medical University (Tomsk)Бюллетень сибирской медицины1682-03631819-36842022-10-0121320521610.20538/1682-0363-2022-3-205-2162932Phenotype variation of hypertrophic cardiomyopathy in carriers of the p.Arg870His pathogenic variant in the MYH7 geneA. N. Kucher0N. R. Valiakhmetov1R. R. Salakhov2M. V. Golubenko3E. N. Pavlyukova4M. S. Nazarenko5Научно-исследовательский институт (НИИ) медицинской генетики, Томский национальный исследовательский медицинский центр (НИМЦ), Российская академия наукНаучно-исследовательский институт (НИИ) медицинской генетики, Томский национальный исследовательский медицинский центр (НИМЦ), Российская академия наукНаучно-исследовательский институт (НИИ) медицинской генетики, Томский национальный исследовательский медицинский центр (НИМЦ), Российская академия наук; Сибирский государственный медицинский университет (СибГМУ)Научно-исследовательский институт (НИИ) медицинской генетики, Томский национальный исследовательский медицинский центр (НИМЦ), Российская академия наукНаучно-исследовательский институт (НИИ) кардиологии, Томский национальный исследовательский медицинский центр (НИМЦ), Российская академия наукНаучно-исследовательский институт (НИИ) медицинской генетики, Томский национальный исследовательский медицинский центр (НИМЦ), Российская академия наук; Сибирский государственный медицинский университет (СибГМУ)The review analyzes variability of clinical manifestations of p.Arg870His in the MYH7 gene, which is repeatedly registered in patients with hypertrophic cardiomyopathy (HCM). The analysis involves the data from scientific publications obtained as a search result in the PubMed, СlinVar, and eLibrary.ru databases, as well as authors’ own results. A wide range of phenotypic manifestations have been revealed in carriers of p.Arg870His, from the asymptomatic to severe course, rapid progression, and early death. The review considers possible factors that modify the effect of the pathogenic variant (i.e. dosage of the pathogenic variant, the presence of other unfavorable genetic variants, etc.). The importance of accumulating information on the clinical features of HCM in the carriers of specific gene variants is emphasized in order to clarify their pathogenicity and to identify factors modifying the clinical outcome, which is important for the choice of the treatment strategy for HCM.https://bulletin.ssmu.ru/jour/article/view/4922гипертрофическая кардиомиопатия (гкмп)ген тяжелой цепи миозина (myh7) |
| spellingShingle | A. N. Kucher N. R. Valiakhmetov R. R. Salakhov M. V. Golubenko E. N. Pavlyukova M. S. Nazarenko Phenotype variation of hypertrophic cardiomyopathy in carriers of the p.Arg870His pathogenic variant in the MYH7 gene Бюллетень сибирской медицины гипертрофическая кардиомиопатия (гкмп) ген тяжелой цепи миозина (myh7) |
| title | Phenotype variation of hypertrophic cardiomyopathy in carriers of the p.Arg870His pathogenic variant in the MYH7 gene |
| title_full | Phenotype variation of hypertrophic cardiomyopathy in carriers of the p.Arg870His pathogenic variant in the MYH7 gene |
| title_fullStr | Phenotype variation of hypertrophic cardiomyopathy in carriers of the p.Arg870His pathogenic variant in the MYH7 gene |
| title_full_unstemmed | Phenotype variation of hypertrophic cardiomyopathy in carriers of the p.Arg870His pathogenic variant in the MYH7 gene |
| title_short | Phenotype variation of hypertrophic cardiomyopathy in carriers of the p.Arg870His pathogenic variant in the MYH7 gene |
| title_sort | phenotype variation of hypertrophic cardiomyopathy in carriers of the p arg870his pathogenic variant in the myh7 gene |
| topic | гипертрофическая кардиомиопатия (гкмп) ген тяжелой цепи миозина (myh7) |
| url | https://bulletin.ssmu.ru/jour/article/view/4922 |
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