1. Genetics of Pulmonary Valve Stenosis in Bulldogs
- Author
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Kovacs, Samantha Lee, Stern, Joshua A1, Kovacs, Samantha Lee, Kovacs, Samantha Lee, Stern, Joshua A1, and Kovacs, Samantha Lee
- Abstract
Pulmonary valve stenosis (PS) is the most common congenital heart defect in dogs. The condition is due to abnormal valve anatomy present at birth that leads to stenosis of the right ventricular outflow tract. The valve stenosis results in pressure overload of the right ventricle. If severe enough, the stenosis leads to right ventricular hypertrophy, arrhythmias, exercise intolerance, and right-sided heart failure. Severity of disease is typically determined based on velocity of blood flow across the lesion via echocardiography. The median survival time for dogs with severe PS is 4-5 years with medical management, while moderately affected cases have a variable prognosis. The prognosis for mild PS is generally good. The Bulldog, which is the fourth most popular breed according to AKC dog rankings, is a breed highly overrepresented in PS cases. Due to this breed predisposition PS is suspected to be inherited. Mildly affected dogs are frequently not diagnosed as traditional auscultation-based tests are insensitive in dogs with profound airway sounds and barrel-shaped chests such as the Bulldog. These subclinical cases make it incredibly difficult to successfully screen and remove affected individuals from the breeding program. Thus, hindering breeding efforts to reduce disease prevalence. Therefore, the development of a genetic screening test represents the most practical approach to identification and reduction of disease frequency in the breed. Additionally, severe and moderately affected PS cases are treated with traditional balloon valvuloplasty, which has good but variable success. The procedure has a significant cost, does not restore normal function, and there is considerable anesthetic risk for the brachycephalic breeds that are predisposed to PS. Additionally, some PS-affected dogs have concurrent coronary anomalies, which are expensive to identify and make balloon valvuloplasty contraindicated, further highlighting the need for genetic screening tests for thi
- Published
- 2022