Sub Aortic Stenosis (SAS)
Sample Collection for Samoyeds to Aid in Finding a Genetic Marker for Sub-aortic Stenosis
We have an opportunity to help move the health of our breed forward in a very significant way. Most who have been involved in the breed for a few years have heard the stories of Samoyeds who, having not exhibited any signs of ill health, suddenly collapse and die. What has been found to be the cause in many of these sudden-death scenarios is a heart condition called Sub-Aortic Stenosis, or SAS. Cornell describes SAS as:
“Subaortic stenosis is a narrowing (stenosis) of the area underneath, the aortic valve, that causes some degree of obstruction or blockage of the blood flow through the heart. The narrowing can be mild, moderate, or severe; if moderate or severe, it can force the heart to work harder and potentially be harmful to the heart’s health.
Subaortic stenosis is a problem that affects dogs and is rare in cats. It most commonly occurs in large-breed dogs. Subaortic stenosis appears to be genetic in origin; the first signs of it may be present at birth (moderate or severe cases) or may appear in the first year of life (usually milder cases).”
One of the researchers who has been studying SAS for a number of years is Dr. Joshua Stern of UC Davis. He and his team have successfully identified one gene marker for SAS in Newfoundlands and are conducting further research in Familial Subvalvular Aortic Stenosis in Newfoundlands and Bullmastiff’s, partially funded by the AKC Canine Health Foundation. Dr. Stern’s lab is considering embarking on this research for Samoyeds. At this time, their main focus will be to continue to collect both affected and control samples. If your Samoyed has had a cardiac ultrasound, irrespective of the results, we would strongly encourage you to consider submitting a sample to help further this research. The components for submission include the following:
1.) An EDTA blood sample (2-3ml in a purple top tube)
2.) A 3 generation pedigree if available
3.) A copy of the cardiologist’s echocardiogram report
4.) Filled out enrollment form
Once Dr. Stern’s lab has an adequate sample size (approximately 48 affected animals and 48 “normal” controls), they will be able to pursue various funding sources to conduct genetic analysis to try to isolate the gene(s) responsible for this devastating disorder in our dogs. We have members who have been pioneers in helping identify a number of marker genes for eye disorders in our breed – let’s see if we can make this happen for their hearts!