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Juvenile Dilated Cardiomyopathy

Breeds

Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful for these breeds

General

Disease Name
Juvenile Dilated Cardiomyopathy
Mutation
unpublished
Test Type
Genetic Disease/Disorder
Details
Juvenile dilated cardiomyopathy (JDCM) occurs in Toy Manchester Terriers/English Toy Terriers. It results in sudden cardiac death at a young age, with dogs reported to have passed as early as 10 weeks of age and as late as 1 year of age. Affected dogs usually appear healthy with no signs of heart disease present before the sudden passing. The only external abnormality is that affected male puppies may have unilateral or bilateral cryptorchidism (undescended testicles on one or both sides). For a number of the puppies, their sudden passing occurred within a day of general anesthesia/surgery or exercise.
Details 2
Juvenile dilated cardiomyopathy (JDCM) occurs in Toy Manchester Terriers/English Toy Terriers. It results in sudden cardiac death at a young age, with dogs reported to have passed as early as 10 weeks of age and as late as 1 year of age. Affected dogs usually appear healthy with no signs of heart disease present before the sudden passing. The only external abnormality is that affected male puppies may have unilateral or bilateral cryptorchidism (undescended testicles on one or both sides). For a number of the puppies, their sudden passing occurred within a day of general anesthesia/surgery or exercise. Necropsy (post-mortem examination) may show mild enlargement and dilation of the heart. Microscopic changes include degeneration and scarring of heart tissue and varying degrees of inflammation. Death is presumed to be the result of a sudden fatal arrhythmia (abnormal heart rhythm).
Published
Mol Genet Metab. 2014 Mar;111(3):399-403. doi: 10.1016/j.ymgme.2013.12.002. Epub 2013 Dec 11.

Breed Specific Info

Breed-specific 1
Research performed at the University of Minnesota, in collaboration with the University of Pennsylvania and the University of Prince Edward Island, has discovered that JDCM in Toy Manchester Terriers/English Toy Terriers is caused by an autosomal recessive mutation in a cardiac potassium channel. To date, we have tested DNA from 21 Toy Manchester Terriers/English Toy Terriers with JDCM, and all had two copies of the mutation. We have also tested more than 500 adult healthy Toy Manchester Terriers/English Toy Terriers, and none have had two copies of the mutation. Thus, the disease may be fully penetrant, meaning that all dogs with two copies of the mutation develop JDCM. https://drive.google.com/file/d/0B2_OEHvXGzcMc3NaQU1hYVpPZHM/view
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