ISSN 2398-2993      

Marfan syndrome

obovis
Contributor(s):

Mike Reynolds

Alan Murphy


Introduction

  • Cause: marfan syndrome is a hereditary condition in cattle. It is caused by an autosomal dominant connective tissue disorder.
  • Signs: affected cattle present with cardiovascular, musculoskeletal and ocular disease.
  • Diagnosis: clinical signs and histopathological findings consistent with disease.
  • Treatment: as marfan syndrome is a hereditary condition, no treatment options are available. Animals should be euthanized on welfare grounds.
  • Prognosis: hopeless.

Pathogenesis

Etiology

  • Marfan syndrome is caused by an autosomal dominant connective tissue disorder.
  • Affected cattle have a defect in fibrillin metabolism caused by mutations in the fibrillin-1 gene.
  • Bovine marfan syndrome resembles human disease in pathology and clinical signs and as such is used as an animal model for human disease.

Predisposing factors

General

  • Presence of autosomal dominant genes responsible for disease being carried in the breeding population.

Specific

  • Presence of autosomal dominant genes responsible for disease leading to the birth of an infected individual.

Pathophysiology

  • Disorganization and fragmentation of elastic fibers of the aorta, secondary to a decreased fibrillin metabolism.  

Timecourse

  • Affected animals are born with the disease and dependent upon severity and clinical manifestations, animals may survive several years. This can be attributed to the wide range of cardiovascular defects associated with marfan syndrome, with mortality occurring in younger animals with more severe pathological changes such as dysfunction of the mitral valve or aortic aneurysms Aortic rupture.

Epidemiology

  • Marfan syndrome in cattle is a hereditary condition and as such, is sporadic in nature.

Diagnosis

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Treatment

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Prevention

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Outcomes

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Further Reading

Publications

Refereed Papers

  • Recent references from PubMed and VetMedResource.
  • Tsang H G, Rashdan N A, Whitelaw C B A, Corcoran B M, Summers K M & MacRae V E (2016) Large animal models of cardiovascular disease. Cell Biochem Funct 34 (3), 113–132 PMC.
  • Habashi et al (2006) Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of marfan syndrome. Science 312 (5770), 117-121 SciMag.
  • Pessier A P & Potter K A (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 PubMed.
  • Potter K A & Besser T E (1994) Cardiovascular lesions in bovine marfan syndrome. Vet Pathol 31 (5), 501-509 PubMed.
  • Potter K A, Hoffman Y, Sakai L Y, Byers P H, Besser T E & Milewicz D M (1993) Abnormal fibrillin metabolism in bovine marfan syndrome. Am J Pathol 142 (3), 803-810 PubMed.

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