02424: Identification of Genetic Variants Associated with Pulmonary Valve Stenosis in Bulldogs through Whole-Genome Sequencing
Grant Status: Open
Pulmonary valve stenosis (PS) is a devastating inherited heart disease in dogs and children. It is the most common congenital heart disease in dogs, with Bulldogs being overrepresented. PS is caused by abnormal anatomy of the pulmonary valve that limits ejection of blood into the lungs. Untreated dogs are at risk of sudden death, congestive heart failure, and may die before five years of age. The type of PS (A or B) and presence of abnormal coronary arteries heavily influences prognosis. While treatment aims to open the narrowed valve region, it is expensive, palliative, and not always effective at resolving the clinical condition. Studying the disease in Bulldogs has the potential to identify a genetic mutation for genetic testing. A prior study performed by the investigators has identified chromosomal regions likely to contain mutations for PS Types A/B and coronaryanomalies in the breed. Whole genome sequencing will be used to investigate the regions to identify variants of interest that segregate with the disease. If identified, the results can be used to aid breeding practices to reduce the prevalence of this disease. Additionally, identification of the molecular basis of PS and coronary anomalies may help elucidate novel therapeutic or diagnostic strategies for this condition.
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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