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Hypertrophic cardiomyopathy (HCM) is a inherited cardiac disorder caused by a mutation in the Troponin I3 (TNNI3) gene, which plays a key role in heart muscle contraction.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 1 |
| Mutation | c.593C>T |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Also known as | HCM |
Informations générales
Hypertrophic cardiomyopathy (HCM) is a inherited cardiac disorder caused by a mutation in the Troponin I3 (TNNI3) gene, which plays a key role in heart muscle contraction. The condition leads to abnormal thickening of the heart muscle, particularly the left ventricle, reducing the heart’s ability to pump blood efficiently. This variant is inherited in an autosomal recessive manner and has been identified in specific Golden Retriever lines.
Caractéristiques cliniques
Affected dogs may show reduced exercise tolerance, rapid or abnormal breathing, and signs of fatigue. Cardiac abnormalities such as arrhythmias (irregular heart rhythms) can occur, which may lead to fainting or collapse. In more severe cases, the disease can progress to heart failure or result in sudden cardiac death, sometimes at a young age.
Additional Information
Références
Pubmed ID: 40843498
Year published: 2025
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