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Genetics of feline hypertrophic cardiomyopathy
Authors:Cristina Gil-Ortuño  Patricia Sebastián-Marcos  María Sabater-Molina  Elisa Nicolas-Rocamora  Juan R. Gimeno-Blanes  María J. Fernández del Palacio
Affiliation:1. Cardiogenetic Laboratory, Inherited Cardiac Disease Unit, IMIB University Hospital Virgen de la Arrixaca-IMIB, Murcia, Spain;2. Veterinary Teaching Hospital University of Murcia, Murcia, Spain;3. Internal Medicine Department, University of Murcia, Murcia, Spain

Department of Cardiology, Inherited Cardiac Disease Unit, University Hospital Virgen de la Arrixaca, Murcia, Spain

Abstract:Hypertrophic cardiomyopathy (HCM) is characterized by an abnormal increase in myocardial mass that affects cardiac structure and function. HCM is the most common inherited cardiovascular disease in humans (0.2%) and the most common cardiovascular disease in cats (14.7%). Feline HCM phenotype is very similar to the phenotype found in humans, but the time frame for the development of the disease is significantly shorter. Similar therapeutic agents are used in its treatment and it has the same complications, such as heart failure, thromboembolism and sudden cardiac death. In contrast to humans, in whom thousands of genetic variants have been identified, genetic studies in cats have been limited to fragment analysis of two sarcomeric genes identifying two variants in MYBPC3 and one in MYH7. Two of these variants have also been associated with human disease. The high prevalence of the reported variants in non-affected cats hinders the assumption of their pathogenicity in heterozygotes. An in-depth review of the literature about genetic studies on feline HCM in comparison with the same disease in humans is presented here. The close similarity in the phenotype and genotype between cats and humans makes the cat an excellent model for the pathophysiological study of the disease and future therapeutic agents.
Keywords:feline model  genetic variant  hypertrophic cardiomyopathy  MYBPC3
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