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Hypertrophic Cardiomyopathy (Sphynx Type Risk Factor) (Feline)

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Test Overview:

Hypertrophic Cardiomyopathy is the most common heart disease that affects cats. This disease causes the heart muscles to thicken, especially on the left ventricular wall. As a result, the volume to the left ventricle is limited and therefore blood is unable to be pumped to the body efficiently. Because of this, heart function is impaired, and signs can include troubled breathing, weakness, coughing and lethargy.

Category:

Cardiorespiratory (Associated with Heart and Lungs)

Gene:

ALMS1

Variant Detected:

c.7384G>C

Severity:

Moderate-Severe. This is a disease with significant welfare impact on the affected animal, in terms of clinical signs and generally reduced life expectancy.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing can determine if a cat is a carrier of Hypertrophic Cardiomyopathy.

Research Citation(s):

Meurs, K.M., Williams, B.G., DeProspero, D., Friedenberg, S.G., Malarkey, D.E., Ezzell, J.A., Keene, B.W., Adin, D.B., DeFrancesco, T.C., Tou, S. : A deleterious mutation in the ALMS1 gene in a naturally occurring model of hypertrophic cardiomyopathy in the Sphynx cat. Orphanet J Rare Dis 16:108, 2021. Pubmed reference: 33639992

Associated Breed(s):

Sphynx,
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