Publications by authors named "Maria Kudryavtseva"
A genetic diagnosis of primary cardiomyopathies can be a long-unmet need in patients with complex phenotypes. We investigated a three-generation family with cardiomyopathy and various extracardiac abnormalities that had long sought a precise diagnosis. The 41-year-old proband had hypertrophic cardiomyopathy (HCM), left ventricular noncompaction, myocardial fibrosis, arrhythmias, and a short stature.
View Article and Find Full Text PDFArticle Synopsis
- 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 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.
View Article and Find Full Text PDFAbout 50% of patients with arrhythmogenic cardiomyopathy (ACM) carry a pathogenic or likely pathogenic mutation in the desmosomal genes. However, there is a significant number of patients without positive familial anamnesis. Therefore, the molecular reasons for ACM in these patients are frequently unknown and a genetic contribution might be underestimated.
View Article and Find Full Text PDF