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Dilated Cardiomyopathy - 2nd VARIANT (Dobermann Type)

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Test Overview:

Dilated cardiomyopathy (DCM) affects dogs and is an inherited disorder of the heart and shows incomplete penetrance, whereby not all dogs are at risk, only those with one or two copies of the mutation will develop the disease. Dogs who are affected with the disease will have weak heart muscles and dilated heart chambers with thin walls. As a result, the enlarged heart will have poor contractility and therefore be prone to arrhythmias. Affected dogs will present with the clinical signs of poor heart function between 1 to 8 years old. The clinical signs will develop as the dogs age, and can range from mild intolerance for exercise to congestive heart failure or sudden death. Signs of heart disease can include exercise intolerance, coughing, fatigue, rapid breathing, difficulty breathing, fainting and sudden death. Affected dogs who don't die suddenly from the arrhythmias will usually die from congestive heart failure at around 7 years old.

Category:

Cardiovascular - Associated with the heart and blood vessels

Gene:

TTN

Variant Detected:

chr36:22657035 (canFam3): C/T

Severity:

Severe. This disease has a high impact on affected animals, either with severe clinical signs causing significant suffering, or carrying a rapidly fatal course.

Mode of Inheritance:

Autosomal Dominant with Incomplete Penetrance

Research Citation(s):

Meurs KM (2016) Doberman DCM Update & DCM2 Gene – Webinar: https://mymediasite.online.ncsu.edu/online/Play/d84281e7f40643bd84d96f0755f0cb9b1d Meurs KM, Friedenberg SG, Kolb J, Saripalli C, Tonino P, Woodruff K, Olby NJ, Keene BW, Adin DB, Yost OL, DeFrancesco TC, Lahmers S, Tou S, Shelton GD, Granzier HG. A missense variant in the titin gene in Doberman pinscher dogs with familial dilated cardiomyopathy and sudden cardiac death. Hum Genet. 2019 May;138(5):515-524. doi: 10.1007/s00439-019-01973-2. [PubMed: 30715562]

Associated Breed(s):

Dobermann,

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