Hyperthrophic Cardiomyopathy (HCM MYH7-related)
Code: K333
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. 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.
Specifications
| Breeds | All Breeds |
|---|---|
| Gene | MYH7 |
| Chromosome | B3 |
| Mutation | c.5647G>A |
| 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.
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.
References
Pubmed ID: 31164718
Year published: 2019
Omia ID: 2212
Omia variant ID:
Turnaround information
- 15 working days