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K333

Hypertrophic Cardiomyopathy (HCM) is a serious disorder characterized by an enlarged heart, which can lead to weakness, fatigue and (potentially fatal) heart failure.

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Caractéristiques

Breeds

Gene

Organ

specimen

Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu

Mode of Inheritance

Chromosome

Also known as

Year Published

Informations générales

Hypertrophic Cardiomyopathy (HCM) is a serious disorder characterized by an enlarged heart, which can lead to weakness, fatigue and (potentially fatal) heart failure. The variant of the disease analysed in this test, found in domestic shorthaired cats, is associated with a mutation to the gene MYH7 that most likely inherits in an autosomal dominant way with incomplete penetrance.

Caractéristiques cliniques

HCM is a thickening of the heart muscle that can result in decreased heart function, heart murmur and abnormal heart rhythm. Clinical signs of heart failure due to HCM include shortness of breath, fluid behind the lungs, fatigue, exercise intolerance, loss of appetite, and sometimes sudden death due to cardiac arrest. Cats with HCM are more likely to develop thromboembolism (blood clots), especially in the hind legs. This causes bluish discoloration of the paw pads, inability to use the hind legs and extreme pain.

Additional Information

The mutation in this test should be considered a risk factor. It is associated with the disorder, but does not necessarily guarantee it.

Références

Pubmed ID: 31164718

Omia ID: 2212

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