What genetic factor is frequently associated with hypertrophic cardiomyopathy?

Hypertrophic cardiomyopathy (HCM) is primarily linked to mutations in genes encoding components of the sarcomere, which is the basic contractile unit of cardiac muscle. The most common mutations that cause HCM affect genes such as MYH7, MYBPC3, and others that play critical roles in muscle contraction and structural integrity of the heart. These genetic mutations lead to abnormal growth of heart muscle, which is the hallmark of HCM.

The connection between sarcomere gene mutations and hypertrophic cardiomyopathy explains why identifying these genetic factors is so crucial for diagnosis, management, and counseling of affected individuals and families. Understanding that HCM is commonly inherited in an autosomal dominant pattern further highlights the importance of genetic testing in at-risk populations.

Other options, while related to different genetic conditions, do not directly correspond to the frequent association seen with HCM. For instance, trisomy 21 relates to Down syndrome and is not specifically linked to hypertrophic cardiomyopathy. Similarly, chromosome 15 deletions are more associated with other genetic syndromes rather than HCM. While MYH6 gene mutations can also contribute to certain types of cardiomyopathies, mutations in sarcomere genes as a whole encompass a broader category