Inherited Infantile Dilated Cardiomyopathy in Portuguese Water Dogs (PWD) Genetic, Clinical, Biochemical and Morphological Findings  Joseph Alroy, DVM  Tufts University

Summary:

Infantile dilated Cardiomyopathy; (IDCM) is a lethal disease characterized by left ventricular dilation and systolic dysfunction. IDCM has been observed in Portuguese Water Dogs. Breeding of 34 presumed carriers resulted in 26 litters. Of the resulting 212 puppies, 50 were affected. This is consistent with a recessive mode of inheritance.

We obtained two litters of sixteen puppies, which were born to presumed carriers. Affected puppies had vague clinical signs and sudden death. In affected puppies progressive reduction of fractional shortening was demonstrated by echocardiography prior to the development of clinical signs. Morphological findings revealed dilation of the left ventricle, and altered contractile elements, while immunohistochemical and biochemical studies demonstrated an increase in desmine. Affected puppies had low plasma taurine concentration when consuming certain diets. Finally, the clinical and echocardiographic manifestations were reversible in some dogs following dietary supplementation of taurine.

Dr. Alroy's work is supported by the following grant from the AKC Canine Health Foundation:

No. 1656: Cellular, Biochemical and Molecular Biological Analysis of Dilated Cardiomyopathy in Portuguese Water Dogs (Sponsored in part by the Portuguese Water Dog Club of America and the Movers and Shakers Portuguese Water Dog Club)

Biographical Profile

Dr. Joseph Alroy obtained his DVM degree at the University of Bern, Switzerland. His postgraduate training includes residency at Angell Memorial Animal Hospital, and courses at Harvard Medical School. He was an instructor in pathology at Tufts Medical School and Assistant Professor at Rush Medical College in Chicago where he worked on changes in cell membrane during malignant transformation. In 1979 he returned to the Department of Pathology at Tufts University. His major research is on metabolic diseases, and his work on lysosomal storage disease was funded by the National Institute of Health.

Dr. Paul Gerard is an MD pathologist who has practiced general pathology in community hospitals in Sacramento, California for over 30 years. A previous Assistant Clinical Professor of Pathology at the University of California, Davis Medical School, he has also served on the Board of Directors of the Sacramento Blood Bank and on the Board of Trustees of several Sacramento area hospitals. Dr. Gerard is a member of the American Boxer Charitable Foundation, a member of the Health and Research Committee of the American Boxer Club and a member of the President's Council of the AKC Canine Health Foundation.

Rhonda Hovan has been a breeder of Golden Retrievers for over twenty years under the Faera prefix. She has a Bachelor's Degree in Biology from Case Western Reserve University. Rhonda is a member of the Golden Retriever Club of America and currently serves on the Board of Directors of the GRCA and the Orthopedic Foundation for Animals.