| Autor: |
Roman Myasnikov, Anna Bukaeva, Olga Kulikova, Alexey Meshkov, Anna Kiseleva, Alexandra Ershova, Anna Petukhova, Mikhail Divashuk, Evgenia Zotova, Evgeniia Sotnikova, Maria Kharlap, Anastasia Zharikova, Yuri Vyatkin, Vasily Ramensky, Alexandra Abisheva, Alisa Muraveva, Sergey Koretskiy, Maria Kudryavtseva, Sergey Popov, Marina Utkina, Elena Mershina, Valentin Sinitsyn, Evgeniya Kogan, Olga Blagova, Oxana Drapkina |
| Rok vydání: |
2022 |
| Předmět: |
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| Zdroj: |
Genes. 13:309 |
| ISSN: |
2073-4425 |
| Popis: |
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. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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