Hypertrofisk kardiomyopati hos en familj brittiska korthårskatter

Abstract: The objectives of this study was to examine the prevalence of hypertrophic cardiomyopathy in a family of British Shorthaircats to determine the mode of inheritance and to investigate if the disease was associated with a mutation in myosin binding proteinC (MyBPC3). The family comprised 28 cats, seven male and 21 females. The cats underwent a physical examination, including cardiac auscultation, and an ultrasound examination. Blood was collected for DNA- analysis. The blodsamples were sent in a buffer solution to Kathryn Meurs, Washington State University, USA for analysis, where the genes coding for MyBPC, Troponin I and T were characterized using microsequencing technique. Out of the 28 cats, 8 were diagnosed with HCM, 2 were diagnosed with congenital heart disease but had no evidence of HCM. 2 cats were equivocal, meaning that HCH could neither be excluded nor confirmed. The remaining cats were considered normal and had no evidence of HCM or any other heart disease at the time of the examination. In total, 8 cats were diagnosed with HCM and the remaining normal when the pattern of inheritance was evaluated. The mode of inheritance within this family could not be determined and an autosomal, dominant inheritance could neither be confirmed nor dismissed. This study indicates that the disease is not caused by a mutation in the same gene that causes the disease in Maine Coon cats (MyBPC). No mutation in either the Troponin C or T could be associated with the presence of HCM in the current family of British Shorthair.