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Hypertrophic Cardiomyopathy - Maine Coon

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Test Overview:

Hypertrophic cardiomyopathy (Maine coon type) is an inherited heart disorder in cats. This disease depicts incomplete penetrance, meaning that not all cats are at risk (those who have one or two copies of the mutation will develop the disorder). Ragdolls, Persians and Maine coons are amongst breeds with the highest rates of disease due to HCM.Cats are usually diagnosed with the disease between 1-4 years of age from an echocardiogram test.The echocardiogram will show the thickening of the left ventricular wall of the heart (when the ventricular walls of the heart become compromised, this makes it harder and less efficient for the heart to pump blood. Affected males cats usually become diagnosed earlier and have a more severe disease compared to the female cats, however, the disease progression varies between cats, where some cats may never develop any symptoms, but most of them will progress to heart failure. Signs of the heart disease include fatigue, inability to exercise, coughing, fainting, labored breathing, painful sudden hind limp paralysis, and this heart disease can be fatal. Most cats who have hypertrophic cardiomyopathy will die from congestive heart failure or a complication with 3-7 months of their diagnosis. Different disease genes and environmental factors can affect the development of dilated cardiomyopathy in cats.This mutation has incomplete penetrance where around 6-18% of heterozygous cats (one copy of mutation) and 58-80% of homozygous cats (two copies of mutation) will eventually present with the heart disease. Some kittens who inherit two copies of the mutation may die during utero, therefore resulting in smaller litter sizes. HCM causes abnormal thickening of the heart muscle, and this means that the heart cannot function properly. Genetic testing is available for several breeds, including MYBPC3 mutations that occur in the ragdoll and Maine coon.  These are both dominant mutations with variable expression.  There is also a test for the HCM2 mutation that occurs in several breeds (British shorthair, Maine coon, Norwegian forest cat, Persian, ragdoll) however this mutation has low penetrance and cats with this mutation may never go on to develop clinical disease.  Ultrasound screening remains important in breeds with this form of cardiomyopathy.

Category:

Cardiorespiratory (Associated with Heart and Lungs)

Gene:

MYBPC

Variant Detected:

Base Substitution G>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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