Hypertrophic cardiomyopathy is the most common cardiac disease in cats worldwide. It is characterized by the increase in wall thickness of the left ventricle and the intraventricular septum, eventually leading to congestive heart failure.
In the Maine Coon, a point mutation (A31P) in the MYBPC3 gene has been found causative for the disease. The relative risk for developing HCM is around 1.8 in heterozygous cats and 18 in homozygous cats compared to Maine Coons negative for A31P. HCM has also been found in about 5.4% of cats negative for A31P, thus this mutation is not sole cause of HCM in Maine Coons.
In the Ragdoll, a point mutation (R820W) in the MYBPC3 gene has been found as causative for the disease. Most cats heterozygous (1-copy) for this mutation do not develop clinical signs, whereas homozygous (2-copies) are at high risk of developing severe HCM signs early in the life and shorter lifespan.
Multiple previously unknown genetic mutation candidates for HCM in domestic cats, all domestic cats = not breed specific, were presented at the 2019 Canine and Feline Genomics and Genetics Conference in Bern, Switzerland.
The incredible support of Optimal Selection by Wisdom Health in TICA's Mid Atlantic increases the body of knowledge of feline genetics and allows Wisdom Health to support research that may lead to being able to screen for more feline HCM mutations with just a cheek swab.