Disease overview

Dilated Cardiomyopathy is a primary disease of the cardiac muscle that leads to dilation or expansion of the heart and thinning of the heart muscle wall. As a result, the heart's capacity to create pressure for pumping blood throughout the body is compromised. This is a severe, early-onset form of the disease that may lead to sudden cardiac death. This form is caused by a mutation in the TT gene, though other genes may be associated with this condition.

Gene name

TTN

Inheritance

Autosomal dominant

Signs and symptoms

Affected dogs will present with a variety of signs associated with decreased oxygen delivery to the body. Signs include weakness, lethargy, collapse, cough, rapid, heavy breathing, a blue tongue, excessive drooling, or a distended stomach. These signs typically begin around 4 years of age and can lead to sudden death just a few months after diagnosis.

How is it diagnosed

A veterinarian will conduct a thorough exam, including a review of health history and any clinical signs. Auscultation of the heart may allow for identification of any heart function abnormalities. An echocardiogram can be performed to assess pump function. Thoracic radiographs can be helpful to visualize both the heart and lungs. Genetic testing is necessary to determine if there is an underlying genetic cause, which can assist veterinarians with diagnosis and help breeders identify affected and carrier dogs.

Breeds at higher risk

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Citations

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 H. 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. Epub 2019 Feb 4. PMID: 30715562.

Werner P, Raducha MG, Prociuk U, Sleeper MM, Van Winkle TJ, Henthorn PS. A novel locus for dilated cardiomyopathy maps to canine chromosome 8. Genomics. 2008 Jun;91(6):517-21. doi: 10.1016/j.ygeno.2008.03.007. Epub 2008 Apr 28. PMID: 18442891; PMCID: PMC2486407.

Meurs KM, Stern JA, Sisson DD, Kittleson MD, Cunningham SM, Ames MK, Atkins CE, DeFrancesco T, Hodge TE, Keene BW, Reina Doreste Y, Leuthy M, Motsinger-Reif AA, Tou SP. Association of dilated cardiomyopathy with the striatin mutation genotype in boxer dogs. J Vet Intern Med. 2013 Nov-Dec;27(6):1437-40. doi: 10.1111/jvim.12163. Epub 2013 Aug 28. PMID: 24033487.

Dambach DM, Lannon A, Sleeper MM, Buchanan J. Familial dilated cardiomyopathy of young Portuguese water dogs. J Vet Intern Med. 1999 Jan-Feb;13(1):65-71. PMID: 10052066.

Meurs KM, Fox PR, Norgard M, Spier AW, Lamb A, Koplitz SL, Baumwart RD. A prospective genetic evaluation of familial dilated cardiomyopathy in the Doberman pinscher. J Vet Intern Med. 2007 Sep-Oct;21(5):1016-20. doi: 10.1892/0891-6640(2007)21[1016:apgeof]2.0.co;2. PMID: 17939558.

Vollmar C, Vollmar A, Keene BW, Fox PR, Reese S, Kohn B. Dilated cardiomyopathy in 151 Irish Wolfhounds: Characteristic clinical findings, life expectancy and causes of death. Vet J. 2019 Mar;245:15-21. doi: 10.1016/j.tvjl.2018.12.018. Epub 2018 Dec 18. PMID: 30819421.

Wiersma AC, Stabej P, Leegwater PA, Van Oost BA, Ollier WE, Dukes-McEwan J. Evaluation of 15 candidate genes for dilated cardiomyopathy in the Newfoundland dog. J Hered. 2008 Jan-Feb;99(1):73-80. doi: 10.1093/jhered/esm090. Epub 2007 Nov 12. PMID: 17998275.

Gavaghan BJ, Kittleson MD. Dilated cardiomyopathy in an American cocker spaniel with taurine deficiency. Aust Vet J. 1997 Dec;75(12):862-8. doi: 10.1111/j.1751-0813.1997.tb11253.x. PMID: 9469219.

Gooding JP, Robinson WF, Mews GC. Echocardiographic characterization of dilatation cardiomyopathy in the English cocker spaniel. Am J Vet Res. 1986 Sep;47(9):1978-83. PMID: 3767104.

Meurs KM, Miller MW, Wright NA. Clinical features of dilated cardiomyopathy in Great Danes and results of a pedigree analysis: 17 cases (1990-2000). J Am Vet Med Assoc. 2001 Mar 1;218(5):729-32. doi: 10.2460/javma.2001.218.729. PMID: 11280406.

Disclaimer

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