Article
Genetics of hypertrophic cardiomyopathy after 20 years: clinical perspectives.
Journal of the American College of Cardiology - 21 Aug 2012
Maron Barry J, Maron Martin S, Semsarian Christopher
Abstract excerpt
Hypertrophic cardiomyopathy (HCM) is the most common familial heart disease with vast genetic heterogeneity, demonstrated over the past 20 years. Mutations in 11 or more genes encoding proteins of the cardiac sarcomere (>1,400 variants) are responsible for (or associated with) HCM. Explosive progress achieved in understanding the rapidly evolving science underlying HCM genomics has resulted in fee-for-service...
Topics
- Age Factors
- Cardiac Myosins
- Cardiomyopathy, Hypertrophic
- Cardiomyopathy, Hypertrophic, Familial
- Carrier Proteins
- DNA Mutational Analysis
- Diagnosis, Differential
- Echocardiography
- Frameshift Mutation
- Genetic Counseling