Canine Medicine: A Large-Scale Study on Cardiomyopathy in Dobermans Is Underway in the United States

A team of veterinary cardiology specialists is currently conducting a groundbreaking study on the impact of genetic mutations on dilated cardiomyopathy, a potentially fatal disease that affects nearly half of all pedigree dogs of the Doberman Pinscher breed. The U.S. team, which has been studying the disease in more than a thousand Dobermanns for nearly a decade, includes veterinary researchers from the University of Florida, the University of Illinois, and the specialized firm Mass Veterinary Cardiology Services in Massachusetts.   Although dilated cardiomyopathy affects many dog breeds, it is particularly prevalent in Dobermans, according to the researchers. This hereditary disease of the heart can lead to sudden death caused by tachycardia or ventricular fibrillation, before congestive heart failure sets in. When heart failure sets in before sudden death—and despite appropriate treatment—survival is short-lived, and the one-year mortality rate is 90 percent. While research on the disease has advanced over the past decade, questions remain, and there are still many unknowns that require a long-term study covering the entire United States. Researchers have therefore launched an ambitious prospective clinical trial, including some 300 Dobermanns screened and followed longitudinally for dilated cardiomyopathy, either through veterinary practice or at national and regional dog shows. The dogs recruited will be followed throughout their lives. They will undergo genetic screening tests using buccal swabs sent for analysis to the North Carolina State University Veterinary Cardiac Genetics Laboratory ; surveys will be conducted with the owners; and all results will be recorded for each dog, which will be monitored individually. The Doberman Pinscher Club of America is contributing $12,250 to this study to cover the cost of testing for participating Dobermans. Although there are two known genetic mutations associated with dilated cardiomyopathy in Dobermans, some dogs without the mutation develop the disease, while others, who carry one or both mutations, may never be affected. Numerous research projects will be conducted simultaneously to try to understand why some Dobermans develop the disease and others do not, and why the many carriers of the genetic mutation express it differently. While genetics can identify risk factors for developing a hereditary disease, scientists know very little about the implications. For example, if the only information derived from studying a population of Dobermanns is their status regarding a genetic disease, this merely allows us to state that 80% of dogs carrying a given mutation will develop the disease . But what is unique or specific about the 20% of dogs that do not develop the disease? What factors influence the expression of the disease in the 80% group? These are all questions that the ongoing study aims to shed light on, in addition to providing baseline information on the entire canine population under study. All veterinary cardiologists in the country will be called upon to help monitor these dogs and conduct regular screenings. In addition, researchers will attempt to look beyond genetics to assess the influence of environmental, nutritional, and epigenetic factors, among others, on the manifestation of dilated cardiomyopathy.