August 1, 2013
View Full PaperGenetic Biomarkers in Hypertrophic Cardiomyopathy
Key Result
Genetic testing identifies mutations in approximately 60% of patients with hypertrophic cardiomyopathy, aiding in accurate diagnosis and the identification of at-risk relatives.
Structured PICO
What is the current role of genetic biomarkers in the diagnosis and screening of hypertrophic cardiomyopathy?
P
Population
Patients with hypertrophic cardiomyopathy and their relatives
I
Intervention
Genetic testing and genetic screening
Genetic biomarkers play a crucial role in the accurate diagnosis of hypertrophic cardiomyopathy and the identification of at-risk relatives.
Abstract
Hypertrophic cardiomyopathy is a common inherited heart muscle disorder associated with sudden cardiac death, arrhythmias and heart failure. Genetic mutations can be identified in approximately 60% of patients; these are commonest in genes that encode proteins of the cardiac sarcomere. Similar to other Mendelian diseases these mutations are characterized by incomplete penetrance and variable clinical expression. Our knowledge of this genetic diversity is rapidly evolving as high-throughput DNA sequencing technology is now used to characterize an individual patient's disease. In addition, the genomic basis of several multisystem diseases associated with a hypertrophic cardiomyopathy phenotype has been elucidated. Genetic biomarkers can be helpful in making an accurate diagnosis and in identifying relatives at risk of developing the condition. In the clinical setting, genetic testing and genetic screening should be used pragmatically with appropriate counseling. Here we review the current role of genetic biomarkers in hypertrophic cardiomyopathy, highlight recent progress in the field and discuss future challenges.
Cite This Study
Coats et al. (Thu,) conducted a review in Hypertrophic cardiomyopathy. Genetic biomarkers was evaluated. Genetic testing identifies mutations in approximately 60% of patients with hypertrophic cardiomyopathy, aiding in accurate diagnosis and the identification of at-risk relatives.