Request for Information and Samples from Cavalier King Charles Spaniels suffering from Mitral Valve Disease and their Family Members.
Disease description
Degenerative valve disease is an adult onset disease resulting from myxomatous degeneration of the mitral (most often) valve and chordae tendinae. These structural or compositional changes in the mitral valve reduce valve strength and lead to valve leakage (and the clinical sign of a cardiac murmur). Ultimately, significant valve leakage may lead to congestive heart failure. Cavalier King Charles spaniels as a breed are at increased risk of developing this disease and tend to develop a more rapidly progressive form at a younger age than other predisposed breeds. Therefore, it is suspected to be inherited.Study description
The goal of this study is to find the altered version of the gene or genes that is responsible for the development of Mitral Valve Disease (MVD) in the Cavalier King Charles Spaniels. Knowledge of this variation within the gene will allow for testing of all the CKCS as early as a few weeks old to identify potentially affected animals, carriers and normal dogs. Hence, this will allow for controlled breeding and eventually the elimination of the disease from the Cavalier King Charles Spaniel breed. In order to achieve this goal we need your help to gather clinical information, pedigrees and blood or tissue samples from MVD affected dogs, their siblings, parents and if possible grandparents (normal or affected). The more samples we get with accurate information the faster we will be able to find the gene. All information will be handled confidentially. At this time we are focusing on collecting samples from affected dogs and their close relations.
In particular, we need dogs that have been examined by a cardiologist (and a copy of the examination form) with a grade 3/6 or louder murmur (consistent with mitral regurgitation) noted at 4 years of age or younger.
Note that the current age of the dog does not matter as long as a copy of the certification is available showing that the dog had this murmur before 5 years of age.
Please keep in mind this is NOT a test, we will not be able to provide you with any results. The identification of the gene variation, the verification of it as the actual cause of the disease and the development of a test might take several years
If you are interested in making a donation to this research project, please send a check written to “Trustees of the University of Pennsylvania” with “Cavalier heart fund” in the memo to the same address. Donations are tax deductible.
