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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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Specifiche
| Razza | |
|---|---|
| Gene | |
| Cromosoma | 1 |
| Mutation | c.593C>T |
| Tipo di Ereditarietà | Autosomico Recessivo |
| Organo | |
| Campione | Tampone, Sangue in EDTA, Sangue in Eparina, Seme, Tessuto |
| Also known as | HCM |
Informazioni generali
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.
Caratteristiche cliniche
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.
Informazioni aggiuntive
Riferimenti
Pubmed ID: 40843498
Year published: 2025
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