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Myxomatous Valvular Degeneration (MMVD; also known as Mitral Valve Disease) is a common heart condition in older, small breed dogs (under 20kg).
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Specifications
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
General information
Myxomatous Valvular Degeneration (MMVD; also known as Mitral Valve Disease) is a common heart condition in older, small breed dogs (under 20kg). The exact cause is not fully understood, though an inherited or genetic component is suspected. Mutations in the NEBL gene (Nebulin-like proteins; nebulette gene) are potentially contributing and associated with the condition. This gene is involved in the structure and function of cardiac muscle cells and is therefore involved in muscle fiber stability.
In MMVD, the mitral valve weakens, causing improper closure and blood to flow backward into the atrium (regurgitation). This leads to heart failure over time. The disease occurs more often in males and breeds like Cavalier King Charles Spaniels and Dachshunds.
Here we test for a mutation in NEBL2. For NEBL1 and NEBL3 separate tests are offered.
Clinical features
Dogs carrying one or more risk alleles at the NEBL-loci are more likely to develop MMVD and to develop it earlier in life (up to three years earlier in homozygous individuals). Initially, mitral valve insufficiency (MVI) is asymptomatic, meaning it produces no obvious signs. The earliest sign of mitral valve leakage is usually a heart murmur, which results from the turbulent flow of blood back through the damaged valve into the left atrium. Dogs may develop a heart murmur as early as four to six years of age. As the disease progresses and regurgitation becomes more severe, the heart's ability to pump blood effectively decreases, eventually leading to congestive heart failure (CHF). Symptoms of heart failure typically include coughing, difficulty breathing, exercise intolerance, and fainting.
Additional information
The presence of NEBL variants does not guarantee MMVD, and MMVD can occur in dogs without these variants. Meaning that variations in the NEBL gene increase the risk of developing MMVD, without any direct causal link to MMVD. The increased risk of NEBL1–3 variants (in the nebulette gene) for developing MMVD is still being clarified in the research, but there is strong evidence linking NEBL mutations to higher susceptibility in certain dog breeds, e.g. Cavalier King Charles Spaniels. This is mainly seen as a reduced susceptibility to MMVD in dogs lacking the mutations in the NEBL gene.
References
Pubmed ID: 36553559
Omia ID: 654