Thanks to the excellent support from Golden retriever owners across the country we have collected enough DNA to begin the first phase of testing. 

Last week we were able to send the DNA of 25 normal Goldens and 25 Goldens affected with subvalvular aortic stenosis out for SNP array.  The SNP array is a way that massive amounts of genetic information can be compared at the same time.  The goal of this test is to identify a region within a single or multiple chromosomes that shows variation between the normal and affected dogs.  The results of the SNP array can take several months and in the meantime we continue to move forward with our research in Goldens.

 At this time we are focusing on evaluating the variation of this disease amongst Golden retrievers and sorting out a pattern of inheritance based upon pedigree analysis. 

We are still enrolling Goldens in the study and would be very pleased to have continued submissions.  We will continue to evaluate pedigrees and bank DNA for future branches of this research.  

Thanks again to all of the study participants!

 

 The Sphynx is a wonderful breed of cat! It is beautiful and sophisticated but is also very friendly. We always look forward to opportunities to meet a Sphynx cat when it comes into the clinic because of their wonderful personality, but really we wish we saw them less frequently than we do because cats rarely come to the clinic just to visit! They come to the cardiology clinic when they are sick and unfortunately, we see quite a few Sphynx because they suffer from an inheritable form of cardiac disease called Hypertrophic Cardiomyopathy. Cats with this disease may present with clinical signs such as shortness of breath. Some cats die suddenly without ever showing any clinical signs which is very devastating to everyone in the family! Although the disease is inherited, the cat does not usually show any signs of heart disease until they are at least 1 year of age.

   We would like to be able to help our Sphynx friends by studying hypertrophic cardiomyopathy. At this time we are in particular need of DNA samples and information from Sphynx cats with and without this disease. If you know of a cat with this disease will you please consider helping us out by completing the questionnaire that is attached and consider sending us a blood sample for DNA extraction? We also need samples from Sphynx cats without this disease, however since this disease often does not show up until the cat is a few years of age, we would ideally have samples from unaffected cats that are at least 8 years of age.

This is a picture of  Skinzin Bling of Destyny’s, who does NOT have heart disease. Judy Gunby was kind enough to allow me to use her picture for this blog . Thank you Judy!

 

DNA collection form for study 2009.doc (36.50 kb)

The VCGL team has returned to Pullman after a very successful weekend at the Evergreen Golden Retriever Specialty Show in Auburn Washington (on 9/5/2009). 

Dr. Stern, Dr. Meurs and cardiology technician Raychel had a great time visiting with all of the wonderful Golden Retrievers and their families. 

Throughout the course of a busy day we evaluated more than  30 Goldens and collected small blood samples for DNA extraction.  Each dog received auscultation(listening to the heart for murmurs), echocardiogram (ultrasound of the heart to look for evidence of abnormalities) and blood sampling.  This was a huge success because it added more than 30 dogs to our study and will enable the genetic comparison of normal Goldens and Goldens affected with subvalvular aortic stenosis.

Thanks a million to all willing participants.  We loved meeting all of you and your beautiful dogs. Special thanks to everyone for their contributions to our study of this devastating disease in Golden Retrievers is greatly appreciated.  

Pictured below are Dr. Stern and Raychel performing an echocardiogram on one of our lovely volunteers and a photo of some of these beautiful dogs at work in the show ring!   

                       

(Dr. Stern's Golden Retriever - "Florin")

On 9/5/2009  Dr. Joshua Stern & Dr. Kate Meurs hit the road to enroll Golden Retrievers in the genetic study for subvalvular aortic stenosis (SAS).

Golden Retrievers are just one of many wonderful dog breeds that are routinely affected with subvalvular aortic stenosis (SAS).  This terrible disease commonly causes sudden death and there is no cure.  In the Golden Retriever this disease is inherited and can be passed on through generations.  Our work is aimed at enrolling both affected and normal Golden Retrievers to study and compare their DNA to find a mutation responsible for this disease. 

We’ve been collecting samples from across the country and are so pleased with the wonderful Golden Retriever fans and supporters. 

When we heard that the Evergreen Golden Retriever Specialty Show was coming to Auburn Washington on 9/5/2009 – we decided to make an appearance and get to meet some of you in person!

If you’re a Golden Retriever fan like we are and planning to attend this show – we might just see you there on Saturday 9/5/2009.  We’re enrolling Goldens free of charge (cardiac evaluation includes, echocardiogram, auscultation and blood sampling) and offering OFA heart certifications for a $25 donation.

Feel free to contact Dr. Joshua Stern with any questions regarding the SAS study in Golden Retrievers at jstern@vetmed.wsu.edu

The most common form of heart disease in the dog is called valvular endocardiosis. This is a degenerative disease of the heart valve that can result in coughing, shortness of breath and sometimes even collapse or death. It affects many of the small breed dogs such as Schnauzers, Cocker Spaniels, Terriers and many mixed breed dogs as they become middle aged or elderly. There is no cure for this disease although  many dogs can be maintained on medications for awhile.

We have recently started participating in a multi-center study to evaluate a new drug for dogs with this disease who have not yet developed any symptoms. The aim of the new medication is to delay the onset of congestive heart failure in dogs with this disease. Enrolled patients will be randomized to placebo or the new cardiac medication and followed for up to 4 years.

In order to participate, dogs should have been diagnosed with a heart murmur on the left side of the heart consistent with valvular heart disease. They should not show any symptoms (cough, etc) and should not yet be on any heart medications.  

The study will pay for an initial visit (exam and echocardiogram) for a patient to be evaluated at Washington State University College of Veterinary Medicine for possible enrollment in the study.   For enrolled patients, the study will then cover cardiac medical costs for follow-up of the patient.   This will include clinic visits to Washington State University College of Veterinary Medicine at 3 to 6 month intervals for cardiac evaluations (diagnostics performed at follow-up visits may include echocardiograms, chest radiographs, blood pressures and laboratory work). 

Please contact Dr. Kate Meurs (Meurs@vetmed.wsu.edu) or Becky Connors (BConnors@vetmed.wsu.edu) or 509-335-6038 for questions or if you think your dog may qualify and would like to participate!

    Subvalvular aortic stenosis is a birth defect of the heart that is known to be inherited in some breeds of dogs. Dogs that have a mild form of the disease may live a normal life span, but dogs that are moderately or severly affected are at a great risk of sudden death and have been shown to have an average life span of 19 months in one study.

    The Rottweiler is a breed that is known to have an inherited form of this birth defect and we would like to be able to help them with our genetic studies. We have been collecting DNA samples from affected and unaffected Rottweilers for some time, but can still use a few more (please see attached file)! We hope to start our molecular studies this fall!

    The Golden Retreiver is another breed of dog that suffers from this inheritable defect. One of our researchers, Dr. Josh Stern, will be starting these studies this fall as well--look for future entries on this blog about that study in the near future!

Familial SAS DNA collection form.pdf (39.05 kb)

  It has now been a few years since our discovery of the mutation in the Maine Coon cat that results in the development of feline hypertrophic cardiomyopathy, a heart disease that can result in heart failure (difficulty breathing), sudden death and even paralysis. One thing that we know about the disease in both the Maine Coon cat and human beings with the disease is that not all individuals with the causative mutation will develop the same severity of the disease. This is sometimes referred to as "incomplete penetrance" by geneticists and may be due to the effect that other genes in the individual have on the abnormal gene. This summer we will begin to look at this confusing area of cardiac genetics a bit more closely in the Maine Coon cat.  We will start by trying to obtain some clinical information on cats that have tested both positive or negative for the mutation. We will begin by asking people who have submitted DNA samples on their cats to fill out a brief survey on the presence of clinical signs (if any) in their cat. We will be sending out the survey by email and hope that as many individuals as possible will be willing to send in information on their cats. The more we know, the more information we can provide to Maine Coon fans everywhere!

This is a picture of one of the many beautiful Maine Coons that we have had the pleasure of meeting!

It has been a hectic 6 weeks in the VCGL and i apologize for not adding more updates. May is our busy time between attending the Boxer National for several days in Ohio and then the cardiology meeting associated with the American College of Veterinary Internal Medicine in Montreal. We are off and running with the new Boxer ARVC test and are doing our very best to get results out as quickly as possible but please understand if we are not quite as fast as we would like to be- we will get there soon!!

THose of you that are interested in our feline cardiomyopathy testing and research efforts- please be assured that Mason and Shaun are hard at work to keep those projects going! The same is true for our Doberman Dilated Cardiomyopathy projects. We are still working very hard on all of these efforts and will provide additional updates soon! 

Here is a picture of Mason (who many of you have spoken to on the phone) hard at work entering samples that have just arrived!

 

 

 

Mandy, a beloved member of the Robbins family, died recently at the age of 12 from Boxer Arrhythmogenic Right Ventricular Cardiomyopathy. Her beauty, charm and sweetness epitomized the wonderful characteristics of the Boxer breed and served as reminder for why we must work so hard to understand this disease. We know Mandy is greatly missed.  

 We approach our molecular studies in many ways. One approach that we use is to look at genes that cause the disease in human beings as possible "candidates" for the animal disease. This approach has worked well for the study of feline cardiomyopathy since two mutations that cause feline hypertrophic cardiomyopathy were identified in a gene that commonly causes the human form of this same disease. However, this approach has not worked well for Boxer Arrhythmogenic Right Ventricular Cardomyopathy. We have now evaluated all of the common genes that cause this disease in humans and have not found a causative defect.

A second approach is to use a "SNP ARRAY" -a small chip that contains pieces of DNA all thoughout the canine genome. A computer uses the chip to looks  at 30,000 or more different peices of DNA and looks for a change in the DNA observed most commonly in the affected but not in the unaffected dogs. When this is identified, it may mean that there is a causative genetic mutation near by. Together with Dr Kerstin Lindblah-Toh at the Broad Institute we have searched the boxer genome for risk factors for cardiomyopathy. We have found two candidate loci, which we are further examining to find the mutations. We believe that we are making significant progress and I hope to give an update on this project at the National Boxer Show in Ohio in May!