Population
Patients with hypertrophic cardiomyopathy
Design
Review
Key result
The genetic spectrum of hypertrophic cardiomyopathy has expanded beyond sarcomeric genes, suggesting the condition should be subdivided based on genotype and echocardiographic septal shape.
Authors
Loading...
Genetic testing refines HCM family screening; leaves open precise mutation-based risk prediction and therapy.
Recent discoveries in genotype-phenotype relationships and the expanding genetic spectrum of hypertrophic cardiomyopathy suggest the disease should be subdivided based on underlying pathogenetic mutations and morphological features.
Bos et al. (2007) conducted a review in Hypertrophic cardiomyopathy. The genetic spectrum of hypertrophic cardiomyopathy has expanded beyond sarcomeric genes, suggesting the condition should be subdivided based on genotype and echocardiographic septal shape.