Key result
Retrospective evaluation of 18 Sphynx cats with hypertrophic cardiomyopathy identified a familial etiology, with four affected cats spanning four generations in a single family.
Observational (n=18)
May warrant familial screening in Sphynx cats; leaves open prospective genetic studies before practice change.
Hypertrophic cardiomyopathy is an inherited disease in some feline breeds including the Maine Coon and Ragdoll. In these breeds, distinct causative genetic mutations have been identified. The two breeds appear to have slightly different clinical presentations, including age of diagnosis. The observation that these two breeds may have different clinical presentations, as well as different genetic mutations, suggests that hypertrophic cardiomyopathy is a diverse disease in the cat. Hypertrophic cardiomyopathy is poorly described in the Sphynx. The objective of this study was to phenotypically characterize Sphynx hypertrophic cardiomyopathy and to evaluate for a familial etiology. Records of 18 affected cats (11 female, seven male) were evaluated. Age of affected cats ranged from 0.5 to 7 years (median, 2 years). Four affected cats were from a single family and included an affected cat in each of four generations (three females, one male). Further studies are warranted to evaluate for a causative mutation and better classify the phenotypic expression.
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Silverman et al. (2012) conducted an observational in Hypertrophic cardiomyopathy (n=18). Familial etiology was evaluated on Phenotypic characterization and familial etiology. Retrospective evaluation of 18 Sphynx cats with hypertrophic cardiomyopathy identified a familial etiology, with four affected cats spanning four generations in a single family.
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