Publications by authors named "Elena Basargina"
Successful therapy in a cohort with early onset Danon disease (DD) highlights the potential importance of earlier disease recognition. We present experience from the largest National Pediatric Center in Russia for cardiomyopathy patients. This report focuses on identification of early clinical features of DD in the pediatric population by detailed pedigree analysis and review of medical records.
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- Left ventricular noncompaction (LVNC) cardiomyopathy can lead to serious health issues like heart failure and sudden cardiac death, and this study aimed to explore its genetic factors in a large group of Russian patients.
- Researchers analyzed clinical data and genetic samples from 214 participants and discovered 54 significant genetic variants across 24 genes, with many variants potentially unique to the Russian LVNC population.
- The study found that as the number of genetic variants increased, so did the severity of LVNC symptoms, suggesting genetic testing can greatly enhance diagnosis and treatment options for affected patients.
Left ventricular non-compaction cardiomyopathy (LVNC) is a rare heart disease, with or without left ventricular dysfunction, which is characterized by a two-layer structure of the myocardium and an increased number of trabeculae. The study of familial forms of LVNC is helpful for risk prediction and genetic counseling of relatives. Here, we present a family consisting of three members with LVNC.
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