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Hypertrophic Cardiomyopathy - Ragdoll

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Test Overview:

Test all breeding Ragdolls for the MYBPC3 R820W mutation. Cats with N/N genotype can be bred without restriction. Cats heterozygous for the mutation (N/HCMrd) should be bred only with clear (N/N) cats to reduce risk of passing the mutation. Avoid breeding two heterozygous cats together to prevent producing homozygous offspring with higher disease risk. Cats homozygous for the mutation (HCMrd/HCMrd) should never be bred. Regular heart screening via ultrasound is recommended for breeding cats, especially those with the mutation.

Category:

Cardiorespiratory (Associated with Heart and Lungs)

Gene:

MYBPC3

Variant Detected:

Base Substitition C>T

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):

Genomics. 2007 Aug;90(2):261-4 Kittleson, Mark. 2007.  In: Bengals Illustrated, Origins and Inspirations Edition.  https://www.bengalsillustrated.com/products-page/back-issues/origins-and-inspirations/

Associated Breed(s):

Abyssinian, Bengal, Egyptian Mau, LaPerm , Norwegian Forest Cat, Ragdoll,
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