02388-MOU: Genetic Markers for Familial Subvalvular Aortic Stenosis in Newfoundlands
Grant Status: Closed
Abstract
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. A previous study identified a single gene mutation associated with a cohort of Newfoundland dogs with SAS, however this mutation does not explain all SAS in the breed and requires further evaluation. Studying this disease in Newfoundlands has the potential to identify causative genetic mutations and develop a reliable genetic test for this condition to further aid breeders to reduce the prevalence of this condition. The investigators will study pattern of inheritance and use the most modern genetic techniques to identify the genetic cause of SAS in Newfoundlands, further expanding our understanding of this disease in dogs.
Funding for the research is provided through the collaborative efforts and generosity of the Newfoundland Club of America Charitable Trust. The AKC Canine Health Foundation supports the funding of this effort and will oversee grant administration and scientific progress.
Publication(s)
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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