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(Circulation. 1999;99:3172-3180.)
© 1999 American Heart Association, Inc.

Basic Science Reports

Familial Hypertrophic Cardiomyopathy in Maine Coon Cats

An Animal Model of Human Disease

Presented in part at the Scientific Conference on the Genome Project: Applications to Cardiovascular Biology, San Diego, Calif, March 8–11, 1998.

Mark D. Kittleson, DVM, PhD; Kathryn M. Meurs, DVM, PhD; Marcia J. Munro, BA; Judith A. Kittleson, RN, MS; Si-Kwang Liu, DVM, PhD; Paul D. Pion, DVM; Jeffrey A. Towbin, MD

From the Department of Medicine and Epidemiology, School of Veterinary Medicine, University of California, Davis (M.D.K., J.A.K., P.D.P.); the Department of Clinical Sciences, College of Veterinary Medicine, The Ohio State University, Columbus (K.M.M.); The Animal Medical Center, Caspary Research Institute for Veterinary Research, New York, NY (S.K.L.); and Baylor College of Medicine, Houston, Tex (J.A.T.).

Correspondence to Dr Mark D. Kittleson, Department of Medicine and Epidemiology, School of Veterinary Medicine, University of California at Davis, Davis, CA 95616. E-mail mdkittleson{at}ucdavis.edu

Background—A naturally occurring animal model of familial hypertrophic cardiomyopathy (FHCM) is lacking. We identified a family of Maine coon cats with HCM and developed a colony to determine mode of inheritance, phenotypic expression, and natural history of the disease.

Methods and Results—A proband was identified, and related cats were bred to produce a colony. Affected and unaffected cats were bred to determine the mode of inheritance. Echocardiography was used to identify affected offspring and determine phenotypic expression. Echocardiograms were repeated serially to determine the natural history of the disease. Of 22 offspring from breeding affected to unaffected cats, 12 (55%) were affected. When affected cats were bred to affected cats, 4 (45%) of the 9 were affected, 2 (22%) unaffected, and 3 (33%) stillborn. Findings were consistent with an autosomal dominant mode of inheritance with 100% penetrance, with the stillborns representing lethal homozygotes that died in utero. Affected cats usually did not have phenotypic evidence of HCM before 6 months of age, developed HCM during adolescence, and developed severe HCM during young adulthood. Papillary muscle hypertrophy that produced midcavitary obstruction and systolic anterior motion of the mitral valve was the most consistent manifestation of HCM. Cats died suddenly (n=5) or of heart failure (n=3). Histopathology of the myocardium revealed myocardial fiber disarray, intramural coronary arteriosclerosis, and interstitial fibrosis.

Conclusions—HCM in this family of Maine coon cats closely resembles the human form of FHCM and should prove a valuable tool for studying the gross, cellular, and molecular pathophysiology of the disease.

Key Words: cardiomyopathy • hypertrophy • heart diseases • genetics

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