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H296

Cardiac Laminopathy (CLAM), a fatal heritable condition, has been described in the Nova Scotia Duck Tolling Retriever.

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Specifications

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Also known as

Year Published

General information

Cardiac Laminopathy (CLAM), a fatal heritable condition, has been described in the Nova Scotia Duck Tolling Retriever. This variant is caused by a recessive mutation to the gene LMNA. CLAM can result in Dilated Cardiomyopathy (DCM), which is a disorder characterised by enlargement of the heart (especially of the left ventricle), poor myocardial contractility, and congestive heart failure.

Clinical features

Affected dogs can develop DCM within the first year of life. Symptoms of DCM can include lack of appetite, lethargy, and irregular or otherwise abnormal heart rhythm. Affected dogs may ultimately die of sudden heart failure.

Additional information

References

Pubmed ID: 37925523

Omia ID: 2796

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3. Results

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