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A Case of Severe Left-Ventricular Noncompaction Associated with Splicing Altering Variant in the FHOD3 Geneстатья Электронная публикация
Информация о цитировании статьи получена из
Scopus
Статья опубликована в журнале из списка Web of Science и/или Scopus
Дата последнего поиска статьи во внешних источниках: 8 апреля 2022 г.
- Авторы: Myasnikov Roman, Bukaeva Anna, Kulikova Olga, Meshkov Alexey, Kiseleva Anna, Ershova Alexandra, Petukhova Anna, Divashuk Mikhail, Zotova Evgenia, Sotnikova Evgeniia, Kharlap Maria, Zharikova Anastasia, Vyatkin Yuri, Ramensky Vasily, Abisheva Alexandra, Muraveva Alisa, Koretskiy Sergey, Kudryavtseva Maria, Popov Sergey, Utkina Marina, Mershina Elena, Sinitsyn Valentin, Kogan Evgeniya, Blagova Olga, Drapkina Oxana
- Журнал: Genes
- Том: 13
- Номер: 2
- Год издания: 2022
- Издательство: MDPI
- Местоположение издательства: Basel, Switzerland
- Номер статьи: 309
- DOI: 10.3390/genes13020309
- Аннотация: Left ventricular noncompaction (LVNC) is a highly heterogeneous primary disorder of the myocardium. Its clinical features and genetic spectrum strongly overlap with other types of primary cardiomyopathies, in particular, hypertrophic cardiomyopathy. Study and the accumulation of genotype–phenotype correlations are the way to improve the precision of our diagnostics. We present a familial case of LVNC with arrhythmic and thrombotic complications, myocardial fibrosis and heart failure, cosegregating with the splicing variant in the FHOD3 gene. This is the first description of FHOD3-dependent LVNC to our knowledge. We also revise the assumed mechanism of pathogenesis in the case of FHOD3 splicing alterations.
- Добавил в систему: Жарикова Анастасия Александровна