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Peer-reviewed veterinary case report

Known cat gene variants not found in diverse cats with heart disease

By O'Donnell, K et al.·Published in Animal genetics·2021·Department of Veterinary Clinical Sciences, United States·View original on PubMed

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Original publication title: Absence of known feline MYH7 and MYBPC3 variants in a diverse cohort of cats with hypertrophic cardiomyopathy.

Species:
cat

Plain-English summary

A group of cats diagnosed with hypertrophic cardiomyopathy (HCM), a common heart disease, were tested for specific genetic variants known to be linked to this condition. The study included 103 cats, primarily domestic shorthairs and longhairs, that were not Maine Coons or Ragdolls, which are the breeds typically associated with these genetic variants. None of the cats showed the known variants in their DNA, suggesting that these genetic markers may only be relevant for the breeds where they were originally identified. This means that genetic testing for these variants might not be useful for most cats with HCM.

People also search for: cat heart disease symptoms · hypertrophic cardiomyopathy in cats · genetic testing for cat heart problems

Abstract

Hypertrophic cardiomyopathy (HCM) is the most common cause of heart disease in the domestic cat with a genetic predisposition in a few breeds. In the Maine Coon and Ragdoll breeds, two variants associated with the HCM phenotype have been identified in the cardiac myosin binding protein C gene (MYBPC3; p.Ala31Pro and p.Arg820Trp respectively), and a single variant has been identified in the myosin heavy chain gene (MYH7; p.Glu1883Lys) in one domestic cat with HCM. It is not known if these variants influence the development of HCM in other cohorts of the feline population. The objective of this study was to evaluate the presence of the known MYBPC3 and MYH7 variants in a population of cats with HCM. DNA was isolated from samples collected from non-Ragdoll and non-Maine Coon domestic cats diagnosed with HCM through the North Carolina State University College of Veterinary Medicine and genotyped for the three variants. One-hundred and three DNA samples from cats with HCM were evaluated from domestic shorthair, domestic longhair and purebred cats. All samples were wt for the MYBPC3 and MYH7 variants. Although this study was limited by its inclusion of cats from one tertiary hospital, the lack of these MYBPC3 and MYH7 variants in this feline HCM population indicates that the clinical utility of genetic testing for these variants may be isolated to the two cat breeds in which these variants have been identified. Further studies to identify the causative variants for the feline HCM population are warranted.

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Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/33970514/