Genetic Test
The TTN (Titin) gene encodes titin, a protein critical for maintaining the elasticity and structural stability of muscle fibers.
Mutations in the TTN gene cause defects in titin, leading to impaired contraction and relaxation of muscle cells.
This mechanism makes TTN gene mutations a significant genetic risk factor for dilated cardiomyopathy (DCM) in certain dog breeds.
Other genes related to myocardial contraction, such as PDK4 (Pyruvate Dehydrogenase Kinase 4) and MYBPC3 (Myosin-binding protein C), are also under study; however, this test focuses on detecting a specific C>T mutation in the TTN gene to assess congenital risk.
This mutation follows an autosomal recessive inheritance pattern, requiring two copies of the mutated gene for a dog to be considered at risk.
Disease Description
Dilated cardiomyopathy (DCM) is a progressive heart muscle disease characterized by thinning and dilation of the heart muscle, resulting in decreased ventricular contractility and reduced cardiac output.
It primarily affects the left ventricle but may involve both ventricles in some cases.
Symptoms can include heart failure, arrhythmias, and pulmonary edema.
Without treatment, acute heart failure may lead to death.
