Genetics of canine subvalvular aortic stenosis (SAS)

• Published in: Canine Medicine and Genetics
• Main Authors: Ontiveros, Eric S., Stern, Joshua A.
• Other Authors: American Kennel Club Canine Health Foundation
• Format: Article in Journal/Newspaper
• Language: English
• Published: Springer Science and Business Media LLC 2021
• Subjects: General Medicine; Bouvier; Flandres; Newfoundland
• Online Access: http://dx.doi.org/10.1186/s40575-021-00103-4; https://link.springer.com/content/pdf/10.1186/s40575-021-00103-4.pdf; https://link.springer.com/article/10.1186/s40575-021-00103-4/fulltext.html

Abstract Subvalvular aortic stenosis (SAS) is one of the most common congenital heart defects of dogs. The disease is characterized by obstruction of the left ventricular outflow tract, resulting in pressure overload on the left ventricle. The etiology of obstruction is a fibromuscular nodule, ridge, or ring of tissue that increases aortic outflow tract velocity. This review is focused on the prevalence, inheritance pattern, and current genetic insights of canine SAS. The prevalence of this disease was reported at 4.7 % in a large veterinary referral hospital. The mode of inheritance for this disease has also been described in breeds with a high disease prevalence such as the Bullmastiff, Bouvier des Flandres, Dogue de Bordeaux, Golden Retriever, Newfoundland, and Rottweiler. Genetic investigations seeking to identify causative mutations for SAS are lacking with only a single published variant associated with SAS in Newfoundlands.