A research letter in Nature Genetics identifies genetic variants associated with hypertrophic cardiomyopathy, an inherited heart condition. Hypertrophic cardiomyopathy results in a thickening of the heart muscle and affects about one in 500 people worldwide. The condition varies in expression and can occur at different ages. Some people may experience chest pain and shortness of breath, especially during exercise. Others may have no symptoms. Heart failure and sudden death can occur in others, including young and middle-aged adults.
By analyzing the genes of 2,780 adults with hypertrophic cardiomyopathy, and comparing their DNA to 47,000 adults without the condition, the researchers identified genetic links associated with hypertrophic cardiomyopathy. The authors envision this insight could be used by clinicians to help patients calculate their risk for the condition. Depending on their genetic profile, an at-risk individual may have half or double the chance for developing hypertrophic cardiomyopathy. Another clinical insight is the connection elevated blood pressure, a modifiable risk factor, has on influencing susceptibility for hypertrophic cardiomyopathy among individuals with common variants. The authors note more research is necessary to understand how common and rare variants affect hypertrophic cardiomyopathy progression throughout the lifespan. The research was supported by the NHLBI.