Our first experiences with genetic testing of patients with hypertrophic cardiomyopathy: mutations in genes for troponin T and troponin I

Abstract

In 40 Czech patiens with hypertrophic cardiomyopathy we observed higher frequency (7,5%) of Troponin I mutations and no mutation in Troponin T gene. Patients with mutations were characterized by mild symptomatology, but in family affected by mutation Ala157Val was noted higher incidence of sudden death.

Keywords

• hypertrophic cardiomyopathy
• genes
• mutations
• Troponin I
• Troponin T