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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

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familial subvalvular aortic stenosis in the rottweiler

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
SAS in Rottweilers
  • Devastating disease
  • Mild forms of disease can go unrecognized
  • Rottweilers over represented
  • Appears familial
slide3

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
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
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
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
  • 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
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
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
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
prognosis1
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
prognosis2
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
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
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
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
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
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
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

Josh_Stern@ncsu.edu

www.cvm.ncsu.edu/vhc/csds/vcgl/