Dilated cardiomyopathy / DCM (PLN-related) - Welsh Springer Spaniel

What does this test analyse?

This genetic test analyses the PLN variant c.26G>A for dilated cardiomyopathy / DCM in Welsh Springer Spaniels. The variant changes phospholamban and causes a dominant form of DCM with important risk of arrhythmia and sudden death.

What does dilated cardiomyopathy mean?

Dilated cardiomyopathy, abbreviated DCM, is a serious heart disease in which especially the left ventricle enlarges and the heart muscle pumps less effectively. The condition is also known as enlarged heart cardiomyopathy, DCM, familial cardiomyopathy, cardiomyopathy with arrhythmias and, depending on the variant, sudden cardiac death risk.

Dogs can show few obvious signs for a long time. When the disease develops, reduced exercise tolerance, weakness, fainting, coughing, rapid or difficult breathing, fluid accumulation, cardiac arrhythmias and sudden death may occur.

Practical value of this test

• Gives breeders early clarity about dogs carrying the tested PLN variant.
• Helps avoid risk matings for a condition that can lead to arrhythmias and sudden death in young adult dogs.
• Supports targeted selection within Welsh Springer Spaniels before clinical signs become visible.
• Makes the result useful for line management, purchase decisions and focused cardiac follow-up of variant-positive dogs.

Inheritance and result

This PLN variant is inherited as autosomal dominant. One copy of the variant is already genetically relevant. A dog with two normal alleles is clear for this variant; a dog with one or two copies is variant-positive and can pass the variant on.