GENETIC TESTING FOR CARDIAC DISEASES IN THE SMALL ANIMAL PATIENT

摘要

Hypertrophic cardiomyopathy is the most common form of heart disease in the cat. It is an adult onset myocardial disease known to be inherited in the Maine Coon and Ragdoll breeds and thought to be inherited in Norwegian Forest, Siberian, Sphynx and Bengal cats among others. Causative genetic mutations have now been identified in the Maine Coon and Ragdoll.Hypertrophic cardiomyopathy is inherited as autosomal dominant trait in the Maine Coon.1 Autosomal dominant traits should have the following criteria: males and females are generally equally affected, every affected individual should have at least one affected parent, and the trait is generally observed in every generation. In the Maine Coon, a genetic mutation has been identified in the myosin binding protein C (MYBPC3) gene.2 Myosin binding protein C is the second most commonly mutated gene responsible for the human form of the disease. In the Maine Coon cat, the mutation is a single base pair change from a guanine to a cytosine in the 31st codon of the gene. This mutation changes the structure of myosin binding protein C and alters the ability to interaction with other contractile proteins. The Maine Coon mutation appears to be quite breed specific. It is unlikely to be associated with hypertrophic cardiomyopathy in other breeds of cats unless they are closely related to the Maine Coon breed.