Hypertrophic cardiomyopathy 3 / HCM3 (MYBPC3-related) - Ragdoll

Hypertrophic cardiomyopathy 3 in Ragdolls

This DNA test analyses the MYBPC3 variant c.2453C>T, known as R820W and listed in current OMIA transcript notation as p.(R818W). This variant causes genetic predisposition to hypertrophic cardiomyopathy 3, also called HCM3, Ragdoll HCM, MYBPC3-related HCM or feline familial HCM.

HCM is characterized by thickening of the heart muscle. In cats this can lead to heart murmur, rhythm abnormalities, reduced exercise tolerance, breathing difficulty, fluid around or behind the lungs, thromboembolism and sudden death. In Ragdolls, this MYBPC3 variant is an important inherited risk variant for breeding selection.

Practical value of this test

• Determines whether a Ragdoll carries the MYBPC3 c.2453C>T variant.
• Helps identify variant-positive animals before breeding decisions are made.
• Supports planning of combinations so that spread of HCM3 in lines can be limited.

The inheritance is practically interpreted as autosomal incomplete dominant. One copy can already be important; penetrance, age of onset and severity can differ between cats.