Integrating Genetics and Medicine: Disease-Modifying Treatment Strategies for Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy (HCM) was the first inherited cardiomyopathy characterized at the molecular level [1,2]. Approximately 25years have elapsed since landmark genetic studies demonstrated that sarcomere mutations cause disease. In that time, genetic testing has evolved from residing strictly in the realm of research performed at a small number of laboratories, to becoming a commercially-available test used in clinical practice. Genetic testing now routinely identifies disease-causing (pathogenic) sarcomere mutations in patients with HCM.
Source: Progress in Pediatric Cardiology - Category: Cardiology Authors: Tags: Review Source Type: research