Marfan syndrome

From Cow

Marfan syndrome is an autosomal dominant genetic disorder of cattle worldwide.

This disease is caused by mutations in the fibrillin-1 gene (FBN1)[1][2], resulting in reduced elastic fiber content in the periosteum, capsule, interosseous ligament, and flexor tendons of the metatarsophalangeal joint of affected cattle[3].

Clinically affected calves present with vascular, ocular and joint diseases.

Diagnosis is based upon presenting signs augmented with laboratory examination of tissue samples. Cardiovascular changes include tamponade secondary to aortic rupture, dissecting aneurysms of the aorta and pulmonary artery, and intrauterine cardiac tamponade secondary to rupture of the pulmonary artery[4].

Pathological changes observed in bovine eyes include ectopia lentis, microspherophakia, and myopia[5].

Because of the hereditary nature of this disease, no treatment is available and severely affected cattle are usually culled.

References

  1. Masabanda J et al (1998) Molecular markers for the bovine fibrillin 1 gene (FBN1) map to 10q26. Anim Genet 29(6):460-461
  2. Singleton AC et al (2005) Bovine model of Marfan syndrome results from an amino acid change (c.3598G > A, p.E1200K) in a calcium-binding epidermal growth factor-like domain of fibrillin-1. Hum Mutat 25(4):348-352
  3. Gigante A et al (1999) Elastic fibers of musculoskeletal tissues in bovine Marfan syndrome: a morphometric study. J Orthop Res 17(4):624-628
  4. Potter KA & Besser TE (1994) Cardiovascular lesions in bovine Marfan syndrome. Vet Pathol 31(5):501-509
  5. Pessier AP & Potter KA (1996) Ocular pathology in bovine Marfan's syndrome with demonstration of altered fibrillin immunoreactivity in explanted ciliary body cells. Lab Invest 75(1):87-95