Disease overview

Cardiomyopathy is a cardiovascular condition that causes degeneration of the heart and thinning of heart muscle walls. These thin walls then stretch due to blood pressure inside the heart, resulting in an enlarged heart with a decreased ability for the heart to create pressure to pump blood throughout the body. This is a severe, early-onset form of the disease that can be fatal.

Gene name

RBM20

Inheritance

Autosomal recessive

Signs and symptoms

Affected dogs will present with a variety of signs associated with decreased oxygen delivery throughout the body. Signs include weakness, lethargy, breathing that is rapid and/or heavy, a blue tongue, excessive drooling, a distended stomach, and collapse. These signs typically begin between 1-2 years of age and can lead to death a few months after diagnosis. Males tend to be diagnosed earlier, with death presenting sooner.

How is it diagnosed

A veterinarian will review health history and conduct a thorough exam that includes clinical signs to help diagnose this condition. A physical exam that includes auscultation of the heart may allow for identification of heart function abnormalities. Laboratory testing and imaging as well as echocardiograms (ECG) may be performed. Thoracic radiographs can be helpful to visualize both the heart and lungs.

Breeds at higher risk

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Citations

Harmon MW, Leach SB, Lamb KE. Dilated Cardiomyopathy in Standard Schnauzers: Retrospective Study of 15 Cases. J Am Anim Hosp Assoc. 2017 Jan/Feb;53(1):38-44. doi: 10.5326/JAAHA-MS-6506. Epub 2016 Nov 14. PMID: 27841675.

Leach SB, Briggs M, Hansen L, Johnson GS. Prevalence, geographic distribution, and impact on lifespan of a dilated cardiomyopathy-associated RNA-binding motif protein 20 variant in genotyped dogs. J Vet Cardiol. 2022 Apr;40:119-125. doi: 10.1016/j.jvc.2021.05.002. Epub 2021 May 21. PMID: 34144877.

Disclaimer

Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.