Genetics of hypertrophic cardiomyopathy: established and emerging implications for clinical practice.

Abstract excerpt

Pathogenic variation in genes encoding proteins of the cardiac sarcomere is responsible for 30%-40% of cases of hypertrophic cardiomyopathy. The main clinical utility of genetic testing is to provide diagnostic confirmation and facilitation of family screening. It also assists in the detection of aetiologies, which require distinct monitoring and treatment approaches. Other clinical applications, including the...

Topics

• Humans
• Genetic Testing
• Cardiomyopathy, Hypertrophic
• Sarcomeres
• Mutation
• Genetic Predisposition to Disease
• Genetic Variation