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Familial Subvalvular Aortic Stenosis in the Rottweiler

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Presentation on theme: "Familial Subvalvular Aortic Stenosis in the Rottweiler"— Presentation transcript:

1 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

2 SAS in Rottweilers Devastating disease
Mild forms of disease can go unrecognized Rottweilers over represented Appears familial

3 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

4 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

5 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

6 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 6

7 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

8 Aortic Velocities ARCH Recommendations
<1.9 m/s normal (clear for breeding) 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)

9 Prognosis for dogs with SAS
Highly variable No clinical consequences Sudden Death Congestive Heart Failure Potential to pass on more severe form to offspring

10 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

11 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

12 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

13 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

14 Our Study Enroll affected and normal Rottweilers
Use SNParray to analyze entire genome Identify regions that are different between normal and affected

15 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

16 We Are Still Enrolling Normal or affected Rottweilers of variable lineage Echocardiography results from cardiologist 3 generation pedigree Blood sample (3ccs purple top tube)

17 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

18 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)


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