Dilated cardiomyopathy (OPA3-related)

 

Gene: OPA3

Transmission: Autosomal recessive

For an autosomal recessive genetic disease an animal must have two copies of the mutation in question to be at risk of developing the disease.  Both parents of an affected animal must be carriers of at least one copy of the mutation.  Animals that have only one copy of the mutation are not at risk of developing the disease but are carrier animals that can pass the mutation on to future generations.

Mutation: Substitution OPA3; c.343 C>T, p.(Q115STOP), bovine chromosome 18.

Medical systems: cardiovascular

Breed: Holstein

Age of onset of symptoms: normally between 2 and 4 years; symptoms can occur as early as 14 months or as late as 8 years of age.

Dilated cardiomyopathy is a genetic disease leading to heart disease in cattle. Clinical signs of this heart disease include edema, exercise intolerance, accelerated heart rate, rapid breathing, distension of the jugular veins and decreased intensity of heart sounds on auscultation. Other observable clinical signs characteristic of this disease are cardiomegaly, loss of elasticity and thinning of the heart walls with ventricular dilatation and the presence of fluid in the thoracic and abdominal cavities.

The above clinical signs appear rapidly, leading to either the sudden death of the cattle or their slaughter. Environmental factors such as gestation, lactation, parturition or obesity may play a role in the age of onset of clinical signs and disease onset. A DNA test has decreased the frequency of this mutation in cow genetics.

 

References:

OMIA link: [0162-9913]

Riedi A, Drögemüller C, Gurtner C, Meylan M. (2018) [Bovine dilated cardiomyopathy: Almost forgotten but still present]. Schweiz Arch Tierheilkd 160:289-293. [pubmed/29717982]

Owczarek-Lipska M, Plattet P, Zipperle L, Drögemüller C, et al. (2011) A nonsense mutation in the optic atrophy 3 gene (OPA3) causes dilated cardiomyopathy in Red Holstein cattle. Genomics 97(1): 51–57.  [pubmed/20923700]

Guziewicz K E, Owczarek-Lipska M, Küffer J, et al.  (2007) The locus for bovine dilated cardiomyopathy maps to chromosome 18. Animal Genetics 38(3):265–269. [pubmed/17433012]

 

Contributed by: Anne-Marie Fortier, Mathilde Proulx, Class of 2027, Faculté de médecine vétérinaire, Université de Montréal.   (Translation DWS).