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Hypertrophic cardiomyopathy does not always present with obvious symptoms. It can be diagnosed on the basis of symptoms, a cardiological examination or a family history investigation following the detection of a case. However, it can also remain asymptomatic for years, until an arrhythmia, heart failure or, in the most severe cases, sudden death occurs.
It is one of those conditions that explain why genetics has become so important in cardiology.
The National Centre for Cardiovascular Research has published in Nature Cardiovascular Research a study on hypertrophic cardiomyopathy associated with variants in the MYBPC3 gene, one of the most common causes of this disease. The study describes a new mechanism involved in its development and analyses the effect of mavacamten, a state-of-the-art treatment that acts on the contraction of the heart muscle.
Hypertrophic cardiomyopathy is characterised by abnormal thickening of the heart muscle. Not all cases progress in the same way, and that is a major part of the problem. In some people, the condition causes hardly any symptoms; in others, it can lead to shortness of breath, chest pain, fainting spells, arrhythmias or significant limitations in daily life.
The new study focuses on forms linked to MYBPC3, a gene associated with cardiac myosin-binding protein C, which is essential for the proper functioning of the sarcomere—the structure that allows the muscle to contract. When certain genetic variants are present, this mechanism can be disrupted, leading to excessive heart contraction.
The CNIC team has been working with human and animal models to gain a better understanding of this condition. According to the centre, the results show that mavacamten can reduce hypercontractility and improve symptoms associated with the disease in experimental models. The scientific article highlights benefits in variants of MYBPC3both missense and truncating mutations, two distinct forms of genetic alteration.
This nuance is significant because it is often not enough simply to know that a gene is involved. We need to understand what type of variant is present, how it affects the heart muscle, and whether a treatment can target that specific mechanism. This forms the basis of an increasingly precise approach to cardiology that looks beyond the general diagnosis to the underlying biology.
Mavacamten belongs to a new generation of medicines known as cardiac myosin inhibitors. Its function is to modulate the force of the heart’s contraction when that contraction is excessively increased. It is not a one-size-fits-all solution for all patients, but it represents a significant change in the management of a condition that, for years, has been treated primarily by controlling symptoms, reducing risks and monitoring progression.
The study provides information relevant to a mechanism of disease and on how a treatment targeted can modify it in experimental models.
The implications for healthcare are clear: it will enable us to gain a better understanding of the genetic and molecular basis of heart disease, refine diagnosis, select patients more effectively and pave the way for more personalised strategies.
It also helps to bring to the fore a condition that is not always apparent. Hypertrophic cardiomyopathy can affect young people, run in families and have significant implications for physical activity, cardiological follow-up and the prevention of serious events.
That is why this type of research matters. Not only because it is published in a high-impact journal, but because it links the laboratory to very specific questions arising from clinical practice: which patients are at greatest risk, what mechanisms underlie the disease, and which treatments might be effective for them.
In cardiology, precision is no longer just a technological aspiration. It often begins with a better understanding of genes.
Sources
CNIC — Discovery of a new mechanism for the genetic cardiac disease that is most common and confirm the effectiveness of a treatment of the latest generation:
https://www.cnic.es/es/actualidad/noticias?combine=miocardiopat%C3%ADa
Nature Cardiovascular Research — Mavacamten shows broad benefit in human and mouse models of MYBPC3-related hypertrophic cardiomyopathy:
https://www.nature.com/articles/s44161-026-00833-3
PubMed — Mavacamten shows broad benefit in human and mouse models of MYBPC3-related hypertrophic cardiomyopathy:
https://pubmed.ncbi.nlm.nih.gov/42414613/
CNIC — Intercellular Signalling Group in Cardiovascular Development and Disease:
https://www.cnic.es/es/node/813