New mechanism in hypertrophic cardiomyopathy found, drug efficacy confirmed

Researchers at the Centro Nacional de Investigaciones Cardiovasculares (CNIC) have identified a previously unknown molecular mechanism underlying a subset of hypertrophic cardiomyopathy (HCM) cases and confirmed that the drug mavacamten is effective regardless of the genetic mutation involved. HCM is the most common genetic heart disease, affecting 1 in 250 to 500 people, and is the leading cause of sudden death in young athletes Source: abc.es, infobae, elconfidencial.

The discovery

The team focused on mutations in the MYBPC3 gene that do not reduce protein levels but instead alter its ability to interact with myosin, the heart's molecular motor. Using a mouse model carrying the R502W variant, they showed that this disruption leads to uncontrolled contraction and hypercontractility Source: abc.es, elconfidencial. "The work focuses on studying the molecular mechanism of a subgroup of mutations in MYBPC3 that… alter its capacity to interact with other proteins of the heart," said lead author Laura Sen-Martín Source: abc.es.

Treatment implications

Mavacamten, a myosin modulator, was tested in the mouse model and in human tissue. It reduced excessive contraction and improved heart function, proving effective across mutation types. The study, published in Nature Cardiovascular Research, suggests that more patients could benefit from this therapy Source: infobae, elconfidencial. The mouse model also provides a tool for testing early intervention strategies Source: elconfidencial.

• HCM affects approximately 95,000 people in Spain Source: infobae.
• The newly described mechanism explains why some patients with normal protein levels still develop disease Source: abc.es.