02327-MOU: Identification of Genetic Markers for Familial Subvalvular Aortic Stenosis in Bullmastiffs

Grant Status: Closed

Grant Amount: $55,173
Joshua A Stern, DVM, PhD; University of California, Davis
April 1, 2017 - August 31, 2020

Sponsor(s): American Bullmastiff Association

Breed(s): Bullmastiff
Research Program Area: Cardiology
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Subvalvular Aortic Stenosis (SAS) is a heart defect characterized by a fibrous ridge located below the aortic valve. Affected dogs are at risk of developing heart valve infections, congestive heart failure or sudden death. Severely affected dogs have an average lifespan of 19 months. SAS is an inherited heart problem reported in Bullmastiffs and other breeds. Studying this disease in Bullmastiffs has the potential to identify a genetic mutation and develop a test for this condition. Ultimately the identification of a mutation in Bullmastiffs would aid breeders in making decisions to reduce the prevalence of this condition. The objective of this study is to use the most modern genetic techniques to identify the genetic cause of SAS in Bullmastiffs. The investigators have collected DNA samples from affected and unaffected Bullmastiffs and will study inheritance to identify genetic variants associated with SAS.

Funding for the research is provided through the collaborative efforts and generosity of the American Bullmastiff Association. The AKC Canine Health Foundation supports the funding of this effort and will oversee administration of funds and scientific progress.

Learn how you can participate in this study!


Ontiveros, E. S., & Stern, J. A. (2021). Genetics of canine subvalvular aortic stenosis (SAS). Canine Medicine and Genetics, 8(1), 4. https://doi.org/10.1186/s40575-021-00103-4

Ontiveros, E. S., Fousse, S. L., Crofton, A. E., Hodge, T. E., Gunther-Harrington, C. T., Visser, L. C., & Stern, J. A. (2019). Congenital Cardiac Outflow Tract Abnormalities in Dogs: Prevalence and Pattern of Inheritance From 2008 to 2017. Frontiers in Veterinary Science, 6. https://doi.org/10.3389/fvets.2019.00052

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