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Familial Subvalvular Aortic Stenosis in the Rottweiler Kathryn M Meurs, DVM, PhD, ACVIM (Cardiology) Joshua A Stern, DVM Veterinary Cardiac Genetics Laboratory North Carolina State University College of Veterinary Medicine SAS in Rottweilers • Devastating disease • Mild forms of disease can go unrecognized • Rottweilers over represented • Appears familial Background: Subvalvular Aortic Stenosis • Commonly reported congenital heart disease • Characterized by aortic subvalvular ridge • Most common in large breed dogs • Familial link demonstrated in Newfoundlands & golden retrievers Physiologic Consequences of SAS • Aortic stenosis increases pressure in the left side of the heart • Left ventricular heart muscle thickens in response to pressure • Aorta can dilate after the stenosis Consequences of SAS Continued • Aortic valve may leak • Thick heart muscle does not oxygenate well • The thick muscle with less oxygen can lead to rhythm disturbances Diagnosis: • Gold Standard – Necropsy demonstration of subvalvular ridge, ring, band or nodules • Antemortem test – Echocardiography : elevated aortic velocities – Auscultation: not specific for SAS – Angiography: presence of subvalvular stenosis Auscultation Screening • Auscultation screening is a good first step – Dogs that pass are unlikely to have SAS – Dogs that fail may or may not have SAS – Echocardiography can help differentiate dogs with functional murmurs from those with SAS Aortic Velocities • ARCH Recommendations – <1.9 m/s normal (clear for breeding) – 1.9-2.4 m/s equivocal (breeding assumes a certain risk level) – > 2.4 affected (breeding not recommended) *ARCH = ACVIM Registry of Cardiac Health (guidelines established by veterinary cardiologists) Prognosis for dogs with SAS • Highly variable – No clinical consequences – Sudden Death – Congestive Heart Failure – Potential to pass on more severe form to offspring Prognosis • Based on echocardiographic analysis of severity as Mild – Typically have normal lifespan – Increased risk of bacterial endocarditis – May produce puppies with disease more severe than their own Prognosis • Based on echocardiographic analysis of severity as Moderate – Increased risk of sudden death, heart failure – May live normal lifespan – Increased risk of bacterial endocarditis Prognosis • Based on echocardiographic analysis of severity as Severe – High risk of sudden death, heart failure – Few live normal lifespan (19-45 months) – Increased risk of bacterial endocarditis Breeding Considerations • SAS appears familial in Rottweiler • Removing dogs from breeding pool should be done with caution – Small gene pool – Equivocal category is still uncertain – Aortic velocity is not a static measure Our Study • Enroll affected and normal Rottweilers • Use SNParray to analyze entire genome • Identify regions that are different between normal and affected Our Study Continued • Focus search in regions of interest for a mutation • Identification of a mutation or mutations that cause SAS (a potential screening tool) • Participation is confidential We Are Still Enrolling • Normal or affected Rottweilers of variable lineage • Echocardiography results from cardiologist • 3 generation pedigree • Blood sample (3ccs purple top tube) Conclusion • SAS is a life threatening disease • Appears to be inherited in the Rottweiler • Pattern of inheritance is still unclear • Screening is important in reducing prevalence • Genetic studies are underway to identify possible mutations Contact Us Kathryn M Meurs DVM, PhD, ACVIM (Cardiology) Joshua A Stern, DVM North Caroline State University College of Veterinary Medicine Veterinary Cardiac Genetics Laboratory Research Bldg. 460 1060 William Moore Dr Raleigh, NC 27607 (919) 513.8279 [email protected] www.cvm.ncsu.edu/vhc/csds/vcgl/