Hypertrophic Cardiomyopathy 3 (HCM3)
Code: K799
Short description
Hypertrophic Cardiomyopathy (HCM) is a serious disorder characterized by an enlarged heart, which can lead to weakness, fatigue and (potentially fatal) heart failure.
General information
Hypertrophic Cardiomyopathy (HCM) is a serious disorder characterized by an enlarged heart, which can lead to weakness, fatigue and (potentially fatal) heart failure. This specific variant of the disease, found in the Ragdoll, is caused by a mutation to the gene MYBPC3. It seems to inherit in an autosomal dominant way with incomplte penetrance. A related variant has also been observed in the Maine Coon, Munchkin and Scottish Fold.
Specifications
| Breeds | |
|---|---|
| Gene | MYBPC3 |
| Chromosome | D1 |
| Mutation | c.2453C>T |
| Organ | Cardiovascular System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Dominant with Incomplete Penetrance |
| Also known as | HCM |
Clinical features
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.
References
Pubmed ID: 17521870
Year published: 2007
Omia ID: 515
Omia variant ID:
Turnaround information
- 15 working days