Targeted next-generation sequencing in Slovak cardiomyopathy patients

E. Nagyova*, J. Radvanszky, M. Hyblova, V. Simovicova, E. Goncalvesova, F. W. Asselbergs, L. Kadasi, T. Szemes, G. Minarik

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

2 Citations (Scopus)


OBJECTIVES: For the first time we used targeted next-generation sequencing to detect candidate pathogenic variants in Slovak cardiomyopathy patients. BACKGROUND: Targeted next-generation sequencing is considered to be the best practice in genetic diagnostics of cardiomyopathies. However, in Slovakia, with high cardiomyopathies prevalence of 1/440, the current diagnostic tests are still based on Sanger sequencing of a few genes. Consequently, little is known about the exact contribution of pathogenic variants in known cardiomyopathy genes in Slovak patients. METHODS: We used a panel of 46 known cardiomyopathy-associated genes to detect genetic variants in 16 Slovak cardiomyopathy patients (6 dilated, 8 hypertrophic, 2 non-compaction subtypes). RESULTS: We identified candidate pathogenic variants in 11 of 16 patients (69 %). Genes with higher count of candidate pathogenic variants were MYBPC3, MYH and TTN, each with 3 different variants. Seven variants ACTC1 (c.329C > T), ANKRD1 (c.683G > T), MYH7 (c.1025C > T), PKP2 (c.2003delA), TTN (c.51655C > T, c.84841G > T, c.101874_101881delAGAATTTG) have been detected for the first time and might represent Slovak- specific genetic cause. CONCLUSIONS: We have performed genetic testing of previously untested Slovak cardiomyopathy patients using next-generation sequencing cardiomyopathy gene panel. Given the high percentage of candidate pathogenic variants it should be recommended to implement this method into routine genetic diagnostic practice in Slovakia.

Original languageEnglish
Pages (from-to)46-51
Number of pages6
JournalBratislava Medical Journal
Issue number1
Publication statusPublished - 2019


  • Cardiomyopathy
  • Gene panel
  • Genetic testing
  • Next-generation sequencing
  • Slovak patients


Dive into the research topics of 'Targeted next-generation sequencing in Slovak cardiomyopathy patients'. Together they form a unique fingerprint.

Cite this