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Hypertrophic Cardiomyopathy - Maine Coon

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Test Overview:

Test all breeding Maine Coons for the MYBPC3-A31P mutation. Cats with N/N genotype can be bred without restriction. Cats heterozygous for the mutation (N/HCMmc) can be bred but should be mated only to cats without the mutation to reduce disease risk. Avoid breeding two heterozygous cats to prevent homozygous kittens, which have a higher risk of severe HCM. Cats homozygous for the mutation (HCMmc/HCMmc) should never be bred. Regular cardiac screening (echocardiography) is recommended for breeding cats, especially those with the mutation.

Category:

Cardiorespiratory (Associated with Heart and Lungs)

Gene:

MYBPC3

Variant Detected:

c.91G>C

Severity:

Severe. This disease has a high impact on affected animals, either with severe clinical signs causing significant suffering, or carrying a rapidly fatal course.

Mode of Inheritance:

Autosomal Dominant with Incomplete Penetrance

Recommended Screening:

1. Recommend genetic screening of all breeding animals (if available) at or before 1 year of age 2. Echocardiography at 1 year of age and recommend yearly for breeding animals for 3-4 years of age, then repeat every 2-3 years 3. Careful auscultation of all animals annually and echocardiogram of any animals with abnormal auscultation findings

Research Citation(s):

Hum Mol Genet. 2005 Dec 1;14(23):3587-93 Kittleson, Mark. 2007.  In: Bengals Illustrated, Origins and Inspirations Edition.  https://www.bengalsillustrated.com/products-page/back-issues/origins-and-inspirations/ Freeman LM, Rush JE, Stern JA, Huggins GS, Maron MS. Feline Hypertrophic Cardiomyopathy: A Spontaneous Large Animal Model of Human HCM. Cardiol Res. 2017 Aug;8(4):139-142. PubMed:28868097 Meurs KM, Sanchez X, David RM, Bowles NE, Towbin JA, Reiser PJ, Kittleson JA, Munro MJ, Dryburgh K, Macdonald KA, Kittleson MD. A cardiac myosin binding protein C mutation in the Maine Coon cat with familial hypertrophic cardiomyopathy. Hum Mol Genet. 2005 Dec 1;14(23):3587-93. PubMed: 16236761 Rush JE, Freeman LM, Fenollosa NK, Brown DJ. Population and survival characteristics of cats with hypertrophic cardiomyopathy: 260 cases (1990-1999). J Am Vet Med Assoc. 2002 Jan 15;220(2):202-7. PubMed: 12126131 Wess G, Schinner C, Weber K, Küchenhoff H, Hartmann K. Association of A31P and A74T polymorphisms in the myosin binding protein C3 gene and hypertrophic cardiomyopathy in Maine Coon and other breed cats. J Vet Intern Med. 2010 May-Jun;24(3):527-32. PubMed: 20412438

Associated Breed(s):

Abyssinian, Bengal, LaPerm , Maine Coon, Siberian, Sphynx,
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