Article
Genetic Testing in Patients with Hypertrophic Cardiomyopathy.
International journal of molecular sciences - 27 Sept 2021
Bonaventura Jiri, Polakova Eva, Vejtasova Veronika, Veselka Josef
Abstract excerpt
Hypertrophic cardiomyopathy (HCM) is a common inherited heart disease with an estimated prevalence of up to 1 in 200 individuals. In the majority of cases, HCM is considered a Mendelian disease, with mainly autosomal dominant inheritance. Most pathogenic variants are usually detected in genes for sarcomeric proteins. Nowadays, the genetic basis of HCM is believed to be rather complex. Thousands of mutations in...
Topics
- Cardiomyopathy, Hypertrophic
- Genetic Testing
- Humans
- Muscle Proteins
- Mutation
- Sarcomeres