Familial Hypertrophic Cardiomyopathy Case Study

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Familial hypertrophic cardiomyopathy (feline HCM) in Maine Coons is a very serious myocardial disorder that often leads to sudden death due to heart failure. The Maine Coon (American Longhair) is the largest and oldest natural breed of domestic cat in North America with a distinct appearance with a lion-like ruff and a tail that resembles a raccoon’s and is good at hunting. HCM is when “a primary structural disorder of the myocardium; characterized by left ventricular hypertrophy… no symptoms to sustained palpitations, heart failure and sudden cardiac death” (2013). This is caused by a mutation of P.A31P in the cMyBP-C (myosin binding protein C) gene and these being the first non-human cases “feline familial HCM provides a valuable model…show more content…
Meaning that MC’s are more inclined to have the mutation through fHCM in the protein gene responsible for regulating a the contracting of the heart “ cMyBP-C protein plays a regulatory role in the sarcomere of cardiomyocytes and is involved in regulation of cardiac contractility” (2013). The test cases in each of the articles show relatively similar results and use many of the same methods with variation in the amount of MC cats used. Cardiac tissue samples from Cat A and Cat B, with the permission from their owners, were part of a study at the University of Copenhagen (2013). The A sample was positive and the B sample was negative and both were studied by an ultrasound (2-D) and cardiac cycles (M-mode) “Cat A was a 36-month-old male homozygous for the p.A31P mutation, with a mild HCM phenotype. Cat B was 16 months old, mutation negative queen, with no clinical signs of HCM… examined by 2-D and M-mode echocardiography” (2013). The results from samples from A and B was the presence of proline (unimportant amino acid that appear in proteins) at the cMyBP-C protein for cat A but not for cat B (2013). The samples found that the p.A31P mutation does not seem to lead to the cause of
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