Hypertrophic cardiomyopathy (HCM) is the most commonly diagnosed cardiac disease in cats. The phenotype varies from mild focal thickening to severe concentric hypertrophy at the left ventricle. Two separate myosin binding protein C (MYBPC3) mutations have been identified in Maine coon cats (A31P and A74T) and one in Ragdoll cats. All three of them seem to cause familial HCM in an autosomal dominant pattern. The purpose of this study was to investigate the presence of these three mutations in population cats of different breeds with HCM in Sweden. The results may show if HCM is present in the absence of these mutations.

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.