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- Title
A Case of Severe Left-Ventricular Noncompaction Associated with Splicing Altering Variant in the FHOD3 Gene.
- Authors
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
- Abstract
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.
- Subjects
HYPERTROPHIC cardiomyopathy; GENETIC variation; HEART fibrosis; HEART failure; CARDIOMYOPATHIES; RNA splicing
- Publication
Genes, 2022, Vol 13, Issue 2, p309
- ISSN
2073-4425
- Publication type
Article
- DOI
10.3390/genes13020309