Investigating the Genetic Causes of HCM

Meurs, K.M., et al., Analysis of 8 sarcomeric candidate genes for feline hypertrophic cardiomyopathy mutations in cats with hypertrophic cardiomyopathy. J Vet Intern Med, 2009. 23(4): p. 840-3.

The most common heart disease in cats is hypertrophic cardiomyopathy (HCM). A causative mutation has been identified in two breeds, the Maine Coon (MC) and Ragdoll that involve the cardiac myosin binding protein C gene (MYBPC3). HCM is thought to be inherited in other breeds as well. The objective of the study was to evaluate a subset of cats from additional breeds with HCM including the British Shorthair (BSH), Norwegian Forest Cat (NWF), Siberian, and Sphynx and to also examine MC cats known to be affected with HCM but lacking the known mutation. Fourteen affected cats among these breeds were evaluated. A causative mutation was not identified in the eight candidate genes studied, although several single nucleotide polymorphisms were detected. The study concluded that mutations within these cardiac genes do not appear to be the only cause of HCM in these breeds. Further evaluation of additional cardiac genes is considered warranted. (VT)
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Related articles:
Meurs, K.M., et al., A substitution mutation in the myosin binding protein C gene in ragdoll hypertrophic cardiomyopathy. Genomics, 2007. 90(2): p. 261-4.
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Meurs, K., et al., A cardiac myosin binding protein C mutation in the Maine Coon cat with familial hypertrophic cardiomyopathy. Hum Mol Genet, 2005. 14(23): p. 3587-3593.
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Heart Disease in Cats

Paige, C. F., J. A. Abbott, et al. (2009). "Prevalence of cardiomyopathy in apparently healthy cats." J Am Vet Med Assoc 234(11): 1398-1403.

The purpose of the study was to determine the prevalence of cardiomyopathy and the relationship between cardiomyopathy and heart murmurs in apparently healthy cats. The study included 103 privately owned and apparently healthy cats that were physically and echocardiographically examined independently by two investigators. Left ventricular wall thickness was determined using 2-dimensional echocardiography in short-axis and long-axis views. Sixteen of the cats examined had heart murmurs detected; of these, 5 had cardiomyopathy. Cardiomyopathy was also identified in 16 cats; 15 had hypertrophic cardiomyopathy (HCM), and one had arrhythmogenic right ventricular cardiomyopathy. The sensitivity and specificity of auscultatory detection of a heart murmur for diagnosis of cardiomyopathy were 31% and 87%, respectively. The findings of this study indicated that cardiomyopathy is common in healthy cats. In addition, detection of a heart murmur is not a reliable indicator of cardiomyopathy in apparently healthy cats. [VT]
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Rush, J., L. Freeman, et al. (2002). "Population and survival characteristics of cats with hypertrophic cardiomyopathy: 260 cases (1990-1999)." J Amer Vet Med Assoc 220(2): 202-207.
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Zimmering, T. M., F. Meneses, et al. (2009). "Measurement of N-terminal proatrial natriuretic peptide in plasma of cats with and without cardiomyopathy." American Journal of Veterinary Research 70(2): 216-222.
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Tissue Doppler Imaging for Feline HCM

Koffas, H., J. Dukes-McEwan, et al. (2008). "Colour M-mode tissue Doppler imaging in healthy cats and cats with hypertrophic cardiomyopathy." J Small Anim Pract 49(7): 330-338.

Hypertrophic cardiomyopathy (HCM) is the most common heart disease of cats. It appears to be hereditary in some families of cats, and genetic mutations causing HCM have been identified in the Maine Coon cat and Ragdoll cat. Definitive diagnosis of HCM is accomplished by ultrasound imaging. Tissue Doppler imaging (TDI) is a tool for quantification of myocardial function, and has been used in humans, dogs and cats. TDI may allow for improved identification of myocardial functional abnormalities, and may be superior to conventional ultrasound for identification of cats affected with HCM. Colour M-mode TDI is one of the applications of the TDI technique that has not yet been studied in cats. This prospective study was carried out to investigate the differences in some of the colour M-mode TDI indices between normal cats and cats with HCM. We hypothesised that these new TDI techniques would discriminate between the healthy and the diseased myocardium. Myocardial velocity gradient and mean myocardial velocities were measured by colour M-mode TDI in the left ventricular free wall of 20 normal cats and 17 cats with HCM. The study showed that myocardial velocity gradients recorded by colour M-mode TDI can discriminate between the healthy and diseased myocardium. This technique shows promise for discriminating normal from affected cats when screening cats for HCM.
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Related articles:
Simpson, K. E., B. C. Devine, et al. (2007). "Assessment of the repeatability of feline echocardiography using conventional echocardiography and spectral pulse-wave Doppler tissue imaging techniques." Vet Radiol Ultrasound 48(1): 58-68.
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Koffas, H., J. Dukes-McEwan, et al. (2003). "Peak mean myocardial velocities and velocity gradients measured by color m-mode tissue doppler imaging in healthy cats." J Vet Intern Med 17(4): 510-524.
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Prevalence of a Genetic Mutation for HCM in Maine Coon Cats

Fries, R., A. M. Heaney, et al. (2008). "Prevalence of the myosin-binding protein C mutation in Maine Coon cats." J Vet Intern Med 22(4): 893-896.

The most common cardiac disease of cats is hypertrophic cardiomyopathy (HCM). In several cat breeds, including the Maine Coon, the disease is inherited as an autosomal dominant trait. Previously, a single base pair change in the myosin-binding protein C (MYBPC3) gene, which changes a conserved amino acid and alters protein conformation, was been identified in some Maine Coon cats with HCM. The prevalence of the MYBPC3 mutation in the Maine Coon cat population is not known, but genetic screening has allowed determination of the percentage of genetically affected cats worldwide. This retrospective study reviewed records of 3,310 samples submitted for evaluation of the Maine Coon MYBPC3 mutation to the Veterinary Cardiac Genetics Laboratory database at Washington State University. In this population of cats, Maine Coons accounted for all the samples positive for this mutation. The worldwide percentage of Maine Coon cats carrying the MYBPC3 mutation was 34%.
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Related articles:
Meurs, K., X. Sanchez, et al. (2005). "A cardiac myosin binding protein C mutation in the Maine Coon cat with familial hypertrophic cardiomyopathy." Hum Mol Genet 14(23): 3587-3593.
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