Article
Hypertrophic Cardiomyopathy Genotype-Phenotype Analysis in Lithuanian Single-Center Cohort.
International journal of molecular sciences - 25 Dec 2025
Šukys Marius, Ereminienė Eglė, Aleknavičienė Kristina, Jonikas Rimvydas, Tamulėnaitė-Stuokė Eglė, Ažukaitė Joana, Ugenskienė Rasa
Abstract excerpt
Hypertrophic cardiomyopathies (HCMs) are among the most common genetic disorders; however, they might be underdiagnosed. Sequencing core sarcomere gene panels remain the main diagnostic tool. We present the results of HCM genetic testing performed at Lithuania's tertiary care center. All patients with diagnosed or clinically suspected HCM underwent next-generation panel sequencing. Of 204 patients, 34 (16.7%)...
Topics
- Humans
- Cardiomyopathy, Hypertrophic
- Female
- Lithuania
- Carrier Proteins
- Genetic Association Studies
- Male
- Myosin Binding Protein C
- Adult
- Phenotype
- Mutation