OMIA:001041-9796 : Ventricular septal defect in Equus caballus (horse)

In other species: chicken , turkey , dog , domestic cat , pig , taurine cattle , goat , sheep , rabbit , alpaca

Categories: Cardiovascular system phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 614429 (trait) , 614431 (trait) , 614432 (trait)

Links to MONDO diseases: No links.

Mendelian trait/disorder: unknown

Considered a defect: yes

Cross-species summary: A congenital heart defect characterised by persistent patency (open-ness) of the ventricular septum, permitting flow of blood directly between ventricles, bypassing the pulmonary circulation and resulting in various degrees of cyanosis (blue discolouration of the skin) due to oxygen deficiency. Clinical signs include systolic murmur and a palpable thrill on both sides of the chest, dyspnoea and poor tolerance of exercise.

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Breeds: Arab (Horse) (VBO_0000905), Thoroughbred (Horse) (VBO_0001083).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:001041-9796: Online Mendelian Inheritance in Animals (OMIA) [dataset].


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.

2024 Brown, C., Stefaniuk-Szmukier, M., Decloedt, A., Beijerink, N., Hamilton, N.A., Velie, B.D. :
Congenital heart defects in Arabian horses and the prospects of genetic testing: A review. Equine Vet J , 2024. Pubmed reference: 38272847. DOI: 10.1111/evj.14062.
2014 Michlik, K.M., Biazik, A.K., Henklewski, R.Z., Szmigielska, M.A., Nicpoń, J.M., Pasławska, U. :
Quadricuspid aortic valve and a ventricular septal defect in a horse. BMC Vet Res 10:142, 2014. Pubmed reference: 24981768. DOI: 10.1186/1746-6148-10-142.
2010 Hall, T.L., Magdesian, K.G., Kittleson, M.D. :
Congenital cardiac defects in neonatal foals: 18 cases (1992-2007). J Vet Intern Med 24:206-12, 2010. Pubmed reference: 20391638.
Short, D.M., Seco, O.M., Jesty, S.A., Reef, V.B. :
Spontaneous closure of a ventricular septal defect in a horse. J Vet Intern Med 24:1515-8, 2010. Pubmed reference: 20840316. DOI: 10.1111/j.1939-1676.2010.0589.x.
2006 Hughes, K.J. :
Diagnostic challenge: lethargy and weakness in an Arabian foal with cardiac murmurs. Ventricular septal defect (VSD). Aust Vet J 84:209-12, 2006. Pubmed reference: 16821489.
1995 Menzel, B., Kalmar, P., Pokar, H. :
Surgical correction of a ventricular septum defect in a mare with the help of extracorporal circulation [German] Praktische Tierarzt 76:1069-1072, 1995.
1987 Wilson, R.B., Haffner, J.C. :
Right atrioventricular atresia and ventricular septal defect in a foal. Cornell Vet 77:187-91, 1987. Pubmed reference: 3568688.
1983 McClure, J.J., Gaber, C.E., Watters, J.W., Qualls, C.W. :
Complete transposition of the great arteries with ventricular septal defect and pulmonary stenosis in a Thoroughbred foal. Equine Vet J 15:377-80, 1983. Pubmed reference: 6641688.
1982 Vitums, A., Bayly, W.M. :
Pulmonary atresia with dextroposition of the aorta and ventricular septal defect in three Arabian foals. Vet Pathol 19:160-8, 1982. Pubmed reference: 7072088.
1979 van der Linde-Sipman, J.S., Goedegebuure, S.A., Kroneman, J. :
Persistent right aortic arch associated with a persistent left ductus arteriosus and an interventricular septal defect in a horse. Vet Q 1:189-94, 1979. Pubmed reference: 22039827. DOI: 10.1080/01652176.1979.9693746.
1975 Glazier, D.B., Farrelly, B.T., O'Connor, J. :
Ventricular septal defect in a 7-year-old gelding. J Am Vet Med Assoc 167:49-50, 1975. Pubmed reference: 50309.

Edit History

  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Imke Tammen2 on 07 Feb 2024