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Peer-reviewed veterinary case report

Genes linked to early mitral valve disease in Cavalier King Charles

By Madsen, Majbritt Busk et al.·Published in The Journal of heredity·2011·Department of Animal and Veterinary Basic Sciences·View original on PubMed

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Original publication title: Identification of 2 loci associated with development of myxomatous mitral valve disease in Cavalier King Charles Spaniels.

Species:
dog

Plain-English summary

A group of Cavalier King Charles Spaniels was studied to understand why they often develop myxomatous mitral valve disease (MMVD), a common heart problem in dogs that leads to heart failure. Researchers found specific genetic regions linked to this disease, which usually affects these dogs as they age, especially by the time they reach 10 years old. Identifying these genetic markers could help in understanding and potentially preventing MMVD in this breed.

People also search for: Cavalier King Charles Spaniel heart disease · myxomatous mitral valve disease in dogs · CKCS heart problems · dog heart disease genetics

Abstract

Myxomatous mitral valve disease (MMVD) is the most common heart disease in dogs. It is characterized by chronic progressive degenerative lesions of the mitral valve. The valve leaflets become thickened and prolapse into the left atrium resulting in mitral regurgitation (MR). MMVD is most prevalent in small to medium sized dog breeds, Cavalier King Charles Spaniels (CKCS) in particular. The onset of MMVD is highly age dependent, and at the age of 10 years, nearly all CKCS are affected. The incidence of a similar disease in humans-mitral valve prolapse-is 1-5%. By defining CKCSs with an early onset of MMVD as cases and old dogs with no or mild signs of MMVD as controls, we conducted a genome-wide association study (GWAS) to identify loci associated with development of MMVD. We have identified a 1.58 Mb region on CFA13 (P(genome) = 4.0 × 10(-5)) and a 1.68 Mb region on CFA14 (P(genome) = 7.9 × 10(-4)) associated with development of MMVD. This confirms the power of using the dog as a model to uncover potential candidate regions involved in the molecular mechanisms behind complex traits.

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Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/21846748/