Hypertrophic cardiomyopathy (HCM)
Hypertrophic cardiomyopathy (HCM)
General description
Hypertrophic cardiomyopathy (HCM) is a genetic heart disease in which the left ventricle becomes abnormally thickened, potentially impairing the heart’s ability to pump effectively. Possible consequences include abnormal blood clotting, irregular heart rhythms and heart failure, which may lead to reduced exercise tolerance, breathing difficulties, fainting episodes and, in severe cases, sudden cardiac death.
Breeds
Golden Retriever, Goldendoodle
Order details
| Test number | 8975 |
| Abbreviation | HCM |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Symptom complex | cardiologic |
| Inheritance | autosomal recessive |
| Age of onset | before 2 years |
| Gene | TNNI3 |
Detailed description
Hypertrophic cardiomyopathy (HCM) is characterized by abnormal thickening of the left ventricle, the heart chamber responsible for pumping blood to the body. HCM is a genetic cardiac disorder that commonly affects the cardiac sarcomere, the functional unit responsible for muscle contraction in the heart. The disease frequently occurs in humans, cats, and pigs, but is only very rarely observed in dogs. HCM can lead to abnormal blood clotting, irregular heart rhythms, and heart failure, although the severity of clinical signs is highly variable.
Clinical signs may include reduced exercise tolerance, breathing difficulties or rapid breathing, fainting or collapse episodes, and cardiac arrhythmias.
In a family of Golden Retrievers, a genetic variant of the TNNI3 (cardiac troponin I) gene has been identified to be associated with HCM. Affected puppies died of sudden cardiac death (SCD) before the age of two years. Based on current knowledge, this condition is pressumed to be inherited in an autosomal recessive manner. This means a dog can carry the genetic variant without showing any signs of disease. Puppies are expected to develop HCM only when they inherit the variant from both parents.
