FELINE HYPERTROPHIC CARDIOMYOPATHY: GENETIC BASIS AND GENOTYPE-PHENOTYPE RELATIONSHIP
Abstract
Hypertrophic cardiomyopathy (HCM) is the most common cardiac disease in cats, with a global prevalence of approximately 15%, increasing up to 30% in cats over 9 years of age. It is a genetic and heterogeneous cardiomyopathy characterized by concentric hypertrophy of the left ventricle in the absence of other conditions that could explain the increased wall thickness. The phenotypic presentation is highly variable, occurs more frequently in males, and its expression increases with age.
This disease is analogous to human HCM, where more than 1,400 mutations have been described in at least 14 genes, and the genotype-phenotype relationship has been established for many of these.
In feline medicine, only two causal mutations are widely demonstrated, both affecting the gene that encodes the beta-myosin heavy chain motor protein (MYBPC3); these mutations are breed-specific (A31P mutation in Maine Coon and R820W in Ragdoll). Other potential mutations reported are still considered of uncertain significance, with few studies on the genotype-phenotype relationship, which are exclusive to these breeds.
The aim of this manuscript is to review the current state of knowledge, since there is an increasing accessibility of genotyping, which is enhancing the capacity to investigate additional genes associated with feline HCM. These advances will support future studies exploring the relationship between new mutations and the expressed phenotype.
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