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Hypertrophic Cardiomyopathy - Ragdoll Overview

Hypertrophic Cardiomyopathy - Ragdoll
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Category: Cardiorespiratory (Associated with Heart and Lungs)

Gene: MYBPC

Variant Detected: Base Substitition C>T

Severity: Scale 3 has a moderate degree of severity, as it is not a fatal disease, though it can decrease the quality of life.

Mode of Inheritance: Autosomal Dominant with Incomplete Penetrance

Test Overview: Hypertrophic cardiomyopathy is the most common form of heart disease in the cat [9]. Affected cats are at risk of sudden cardiac death, development of congestive heart failure, and development of a systemic arterial thromboembolus. Increasingly, feline hypertrophic cardiomyopathy is noted to be present in specific breeds, with examples reported in the Maine coon, ragdoll, and British shorthair breeds, among others. We have recently identified a causative mutation for inherited hypertrophic cardiomyopathy in the Maine coon cat in the gene for the cardiac myosin binding protein C (MYBPC3), a sarcomeric gene and the second most common cause of familial hypertrophic cardiomyopathy in human beings.

Research Citation(s): Genomics. 2007 Aug;90(2):261-4

Associated Breed(s): Ragdoll,  Abyssinian,  Bengal,  Egyptian Mau,  LaPerm ,  Norwegian Forest Cat,