Publications by authors named "Tamara Lubimtseva"
Hypertrophic cardiomyopathy (HCM) is one of the most common hereditary diseases, and it is associated with fatal complications. The clinical heterogeneity of HCM requires risk prediction models to identify patients at a high risk of adverse events. Most HCM cases are caused by mutations in genes encoding sarcomere proteins.
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- RNA-binding motif protein 20 (RBM20) is crucial for splicing various cardiac genes, and mutations in this protein can lead to serious heart diseases like cardiomyopathies.
- The initial discovery linked RBM20 mutations to dilated cardiomyopathy through improper splicing of the titin gene, which is vital for heart muscle function.
- This summary also highlights a specific clinical case of an uncommon arrhythmogenic phenotype related to an unclear genetic variant, despite the absence of visible heart structure issues.