Hypertrophic cardiomyopathy 1 / HCM1 (MYBPC3-related) - Cat

About hypertrophic cardiomyopathy 1

Hypertrophic cardiomyopathy is an important inherited heart disease in cats. This analysis focuses on hypertrophic cardiomyopathy 1, also known as HCM1, feline familial HCM, MYBPC3-related HCM, MYBPC3-A31P and Maine Coon HCM. The condition is characterized by thickening of the heart muscle, especially the left ventricle.

Cats with HCM may show few or no obvious signs for a long time. Possible clinical consequences include a heart murmur, abnormal rhythm, exercise intolerance, breathing difficulty, fluid around or behind the lungs, thromboembolism and, in severe cases, sudden death. Echocardiography remains necessary to assess current heart structure and function.

What does this test detect?

This DNA test detects the MYBPC3 variant c.91G>C, which causes the amino acid change p.(A31P). MYBPC3 encodes cardiac myosin binding protein C, a protein important for sarcomere function in heart muscle.

Inheritance and interpretation

For this MYBPC3 variant, the current classification uses an autosomal recessive model. Cats with two copies have a genotype consistent with increased risk for HCM1. Cats with one copy are carriers; clinical relevance should be assessed carefully together with breed, family history and cardiac examination.

Practical value of this test

The result supports breeding selection and helps identify cats with relevant genetic risk early. For breeders, this can help plan combinations more carefully. For veterinarians and owners, the result adds context during screening, echocardiography and follow-up, but it does not replace clinical cardiac examination.