MYBPC3

MYBPC3: The Genetic Heart of Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy (HCM) is the most common inherited heart disease, affecting an estimated 1 in 500 people worldwide. It‘s a condition characterized by the thickening of the heart muscle, which can lead to various symptoms like shortness of breath, chest pain, and even sudden cardiac arrest. While there are multiple genes linked to HCM, one gene stands out as a major player: MYBPC3.

What is MYBPC3?

MYBPC3 is a gene that provides instructions for making a protein called cardiac myosin-binding protein C (cMyBP-C). This protein plays a crucial role in the heart‘s contraction by regulating the interaction between myosin and actin filaments, the main components of the heart‘s contractile machinery.

The MYBPC3-HCM Connection

Mutations in the MYBPC3 gene can disrupt the normal production or function of cMyBP-C, leading to the development of HCM. These mutations can be inherited from a parent or occur spontaneously. In fact, MYBPC3 mutations are the most frequent cause of familial HCM, accounting for about 30-40% of cases.

The effects of MYBPC3 mutations can vary widely, ranging from mild to severe forms of HCM. Some individuals with MYBPC3 mutations may remain asymptomatic for many years, while others experience significant heart problems early in life. The severity of HCM also depends on other factors like age, lifestyle, and the presence of additional genetic or environmental modifiers.

Genetic Testing and Counseling

If you have a family history of HCM or experience symptoms suggestive of the condition, genetic testing for MYBPC3 mutations may be recommended. This can help confirm a diagnosis, identify other family members at risk, and guide treatment decisions.

Genetic counseling is an essential part of the process, providing information about the inheritance pattern of HCM, the potential risks for you and your family, and the available management options.