Study of cardiomyopathy in Dobermans underway

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Veterinarian examining a Doberman pinscherA team of veterinary cardiology specialists is undertaking a first-ever lifetime investigation of the influence of genetic mutations on dilated cardiomyopathy, a potentially fatal disease that affects nearly half of all Doberman pinschers.

The investigative team, which has spent nearly a decade studying the disease in more than a thousand Dobermans, includes Drs. Amara Estrada, professor of cardiology at the University of Florida College of Veterinary Medicine; Ryan Fries, assistant professor of cardiology at the University of Illinois College of Veterinary Medicine; and Nancy Morris, a specialist at Mass Veterinary Cardiology Services in Agawam, Massachusetts.

"While much has been learned over this timeline, there are still many unknowns that require long-term investigation, as well as collaboration with scientists here at UF and other institutions across the country," Dr. Estrada said in a November UF press release.

Although dilated cardiomyopathy affects many breeds of dogs, it strikes Dobermans more than any other breed, according to researchers. The inherited disorder can cause sudden death or can eventually lead to congestive heart failure.

"Important questions have arisen during these evaluations, and we have now launched a prospective clinical trial enrolling 300 Dobermans that have been screened for DCM and followed longitudinally at our respective veterinary practices, national and regional shows," Dr. Estrada said in the release.

The Doberman Pinscher Club of America is contributing $12,250 to the study, which will cover the costs of genetic testing for participating Dobermans from cheek swab samples submitted to the North Carolina State University Veterinary Cardiac Genetics Lab. Participating dogs will be followed over their lifetime, with screening tests, owner surveys, and outcomes recorded for each dog.

"Although there are two known genetic mutations associated with DCM, dogs without either mutation have developed the disease, and dogs with one or both mutations might not ever develop the disease. We have multiple projects happening simultaneously that are designed to understand why some of these Doberman pinschers develop the disease and others do not," Estrada said.

Although genetics determine a risk for developing a disease, scientists don't really know much beyond that, according to Dr. Fries.

"If you look at a population and all you know is the genetic status, you can make a statement such as 80 percent of dogs with this mutation will develop the disease," Dr. Fries explained in the release. "But what is unique about those 20 percent? What factors influence the 80 percent? Maybe our study will shed some light on those factors in addition to providing basic information about the entire population."

Investigators acknowledge that tracking each dog will require a full complement of collaborators. "We will call on our cardiologist colleagues around the country to help us follow these dogs, as well as provide regular screening at national shows, regional shows, and at our respective institutions," Dr. Fries added.