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Journal of veterinary internal medicine2020; 34(5); 2152-2157; doi: 10.1111/jvim.15893

Aortopulmonary fistula in a Warmblood mare associated with an aortic aneurysm and supravalvular aortic stenosis.

Abstract: This case report describes the clinical presentation, the necropsy findings, and genetic results of a 13-year-old Warmblood mare presented with colic and a bilaterally loud, holosystolic murmur. Echocardiographic examination revealed the presence of a thoracic aortic aneurysm, an aortic pseudoaneurysm, a periaortic hematoma (circumferential cuffing by perivascular hemorrhage), and aortopulmonary fistulation. A supravalvular aortic stenosis (SVAS) was visible during echocardiography. Necropsy confirmed that the thoracic aortic aneurysm had ruptured and connected to the pseudoaneurysm, which fistulated into the pulmonary artery. Histologically, the aneurysm wall revealed chronic lesions such as fibrosis, mucin depositions, mineralizations, and elastin fragmentation. The mid abdominal aorta showed lesions suggestive of a systemic elastin arteriopathy. Molecular analysis, however, could not attribute this disease to a variant in the elastin gene, the most common causative gene for SVAS. To the authors' knowledge, this case report describes a case of aortopulmonary fistulation in a Warmblood horse associated with the presence of SVAS and an aortic aneurysm.
© 2020 The Authors. Journal of Veterinary Internal Medicine published by Wiley Periodicals LLC on behalf of American College of Veterinary Internal Medicine.
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Publication Date: 2020-09-14 PubMed ID: 32926466PubMed Central: PMC7517844DOI: 10.1111/jvim.15893Google Scholar: Lookup
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Summary

This research summary has been generated with artificial intelligence and may contain errors and omissions. Refer to the original study to confirm details provided. Submit correction.

The research article is a case study on a 13-year-old Warmblood mare that was presented with colic and a loud heart murmur. Through echocardiogram and necropsy, it was found that the mare had a thoracic aortic aneurysm, a pseudoaneurysm, a hematoma, aortopulmonary fistulation, and supravalvular aortic stenosis. However, molecular analysis revealed that the condition could not be attributed to a common causal gene for such issues.

Case Presentation and Findings

  • This clinical case study revolves around a 13-year-old Warmblood mare that displayed symptoms of colic (intestinal disorder), and a strong, bilaterally loud, holosystolic (throughout the entire heartbeat) murmur.
  • During echocardiographic examination, abnormal development or issues with the heart and blood vessels were identified. Those included a thoracic aortic aneurysm (abnormal enlargement of the aorta), a pseudoaneurysm (a false aneurysm), periaortic hematoma (circumferential cuffing by perivascular hemorrhage or blood clot around the aorta), and aortopulmonary fistulation (an abnormal connection between the aorta and components of the pulmonary system).
  • Supravalvular aortic stenosis (SVAS), a heart disorder that narrows the aorta above the aortic valve, was also found visible during the echocardiogram.

Necropsy Results

  • The necropsy confirmed the aforementioned diagnosis. The thoracic aortic aneurysm was found to have ruptured, leading to an abnormal communication with the pseudoaneurysm, creating a fistula into the pulmonary artery.
  • When observed histologically, or at a microscopic level, the wall of the aneurysm showed signs of chronic lesions such as fibrosis (formation of fibrous tissue), mucin depositions (deposits of a protein that forms mucus), mineralisations (mineral deposits), and elastin fragmentation.
  • Similar lesions hinting at systemic elastin arteriopathy were also located in the mid abdominal aorta.

Genetic Investigation

  • To understand molecular implications, analysis was carried out on the elastin gene – commonly associated with SVAS. Interestingly, this illness could not be attributed to a variant of this gene in the studied case.
  • This investigative report marks a unique case study as it is one of the first to document aortopulmonary fistulation in a Warmblood horse, associated with the presence of an SVAS and an aortic aneurysm.

Cite This Article

APA
Saey V, Decloedt A, Van Poucke M, Peelman L, van Loon G, Vanderperren K, Ducatelle R, Chiers K. (2020). Aortopulmonary fistula in a Warmblood mare associated with an aortic aneurysm and supravalvular aortic stenosis. J Vet Intern Med, 34(5), 2152-2157. https://doi.org/10.1111/jvim.15893

Publication

Journal of veterinary internal medicine
ISSN: 1939-1676
NlmUniqueID: 8708660
Country: United States
Language: English
Volume: 34
Issue: 5
Pages: 2152-2157

Researcher Affiliations

Saey, Veronique
  • Department of Veterinary Pathology, Faculty of Veterinary Medicine, Ghent University, Merelbeke, Belgium.
Decloedt, Annelies
  • Department of Large Animal Internal Medicine, Faculty of Veterinary Medicine, Ghent University, Merelbeke, Belgium.
Van Poucke, Mario
  • Department of Nutrition, Genetics and Ethology, Faculty of Veterinary Medicine, Ghent University, Merelbeke, Belgium.
Peelman, Luc
  • Department of Nutrition, Genetics and Ethology, Faculty of Veterinary Medicine, Ghent University, Merelbeke, Belgium.
van Loon, Gunther
  • Department of Large Animal Internal Medicine, Faculty of Veterinary Medicine, Ghent University, Merelbeke, Belgium.
Vanderperren, Katrien
  • Department of Veterinary Medical Imaging and Small Animal Orthopaedics, Faculty of Veterinary Medicine, Ghent University, Merelbeke, Belgium.
Ducatelle, Richard
  • Department of Veterinary Pathology, Faculty of Veterinary Medicine, Ghent University, Merelbeke, Belgium.
Chiers, Koen
  • Department of Veterinary Pathology, Faculty of Veterinary Medicine, Ghent University, Merelbeke, Belgium.

MeSH Terms

  • Animals
  • Aortic Aneurysm / veterinary
  • Aortic Stenosis, Supravalvular / veterinary
  • Arterio-Arterial Fistula / diagnostic imaging
  • Arterio-Arterial Fistula / veterinary
  • Female
  • Horse Diseases / diagnostic imaging
  • Horses
  • Pulmonary Artery / abnormalities
  • Pulmonary Artery / diagnostic imaging

Conflict of Interest Statement

Authors declare no conflict of interest.

References

This article includes 35 references
  1. Roberts WC. Valvular, subvalvular and supravalvular aortic stenosis: morphologic features.. Cardiovasc Clin 1973;5:97‐126.
    pubmed: 4272665
  2. Allen H, Driscoll D, Shaddy R, Feltes T. Aortic stenosis Moss and Adams' heart Disease in Infants, Children and Adolescents.. 8th ed. Philadelphia: Lippincott Williams and Wilkins, Philadelphia, PA; 2013:1023‐1043.
  3. Metcalfe K, Rucka AK, Smoot L. Elastin: mutational spectrum in supravalvular aortic stenosis.. Eur J Hum Genet 2000;8:955‐963.
    pubmed: 11175284
  4. Pober BR, Johnson M, Urban Z. Mechanisms and treatment of cardiovascular disease in Williams‐Beuren syndrome.. J Clin Invest 2008;118:1606‐1615.
    pmc: PMC2358987pubmed: 18452001
  5. Allen HD, Moller JH, Formanek A, Nicoloff D. Atresia of the proximal left coronary artery associated with supravalvular aortic stenosis.. J Thorac Cardiovasc Surg 1974;67:266‐271.
    pubmed: 4544028
  6. Duque Lasio ML, Kozel BA. Elastin‐driven genetic diseases.. Matrix Biol 2018;71‐72:144‐160.
    pmc: PMC8409172pubmed: 29501665
  7. Merla G, Brunetti‐Pierri N, Piccolo P, Micale L, Loviglio MN. Supravalvular aortic stenosis: elastin arteriopathy.. Circ Cardiovasc Genet 2012;5:692‐696.
    pubmed: 23250899
  8. Friedman WF, Mills LF. The relationship between vitamin D and the craniofacial and dental anomalies of the supravalvular aortic syndrome.. Pediatrics 1969;43:12‐18.
    pubmed: 4974318
  9. Guarda F, Griglio B, Rossignoli M. Herzmissbildungen und Endocardiosen beim Schwein .. Deutsch Tierärztl Wschr 1993;96:377‐379.
    pubmed: 8261917
  10. Friedman WF, Roberts WC. Vitamin D and the supravalvular aortic stenotic syndrome: the transplacental effects of vitamin D on the aorta in the rabbit.. Circulation 1966;34:77‐86.
    pubmed: 5949492
  11. Bohn FK, Scabell G, Hanichen T. Supravalvular aortic stenosis in the dog.. Zentralbl Veterinarmed A 1967;1:85‐90.
    pubmed: 4966023
  12. Pinkos A, Stauthammer C, Rittenberg R, Barncord K. High‐pressure balloon dilation in a dog with supravalvular aortic stenosis.. J Vet Cardiol 2017;19:88‐94.
    pubmed: 27806903
  13. Buergelt CD. Equine cardiovascular pathology: an overview.. Anim Health Rev 2003;4:109‐129.
    pubmed: 15134294
  14. Gross DR. Naturally occurring models of cardiovascular disease Animal models in Cardiovascular Research.. 2nd ed. Dordrecht, The Netherlands: Springer; 1994:415.
  15. Hayano S, Okuno Y, Tsutsumi M. Frequent intragenic microdeletions of elastin in familial supravalvular aortic stenosis.. Int J Cardiol 2019;274:290‐295.
    pubmed: 30228022
  16. Ploeg M, Saey V, Delesalle C. Thoracic aortic rupture and aortopulmonary fistulation in the Friesian horse: histomorphologic characterization.. Vet Pathol 2015;52:152‐159.
    pubmed: 24741028
  17. Bendl J, Stourac J, Salanda O, Pavelka A, Wieben ED. PredictSNP: robust and accurate consensus classifier for prediction of disease‐related mutations.. PLoS One 2014;10:e1003440.
    doi: 10.1371/journal.pcbi.1003440pmc: PMC3894168pubmed: 24453961google scholar: lookup
  18. Manohar A, Anwar RA. Evidence for a cell‐specific negative regulatory element in the first intron of the gene for bovine elastin.. Biochem J 1994;300:147‐152.
    pmc: PMC1138136pubmed: 8198526
  19. Ott CE, Grünhagen J, Jäger M. MicroRNAs differentially expressed in postnatal aortic development downregulate elastin via 3′UTR and codin‐sequence binding sites.. PLoS One 2011;6:e16250.
    pmc: PMC3031556pubmed: 21305018
  20. Bashir MM, Indik Z, Yeh H. Characterization of the complete human elastin gene. Delineation of unusual features in the 5′‐flanking region.. J Biol Chem 1989;264:8887‐8891.
    pubmed: 2722804
  21. Pierce RA, Moore CH, Arikan MC. Positive transcriptional regulatory element located within exon 1 of elastin gene.. Am J Physiol Lung Cell Mol Physiol 2006;291:391‐399.
    pubmed: 16899711
  22. Wang C, Lee J, Deng Y, Tao F, Zhang LH. ARF‐TSS: an alternative method for identification of transcription start site in bacteria.. Biotechniques 2012;52(4):1‐3.
    doi: 10.2144/000113858pubmed: 26307248google scholar: lookup
  23. Saey V, Ploeg M, Delesalle C. Morphometric properties of the thoracic aorta of Warmblood and Friesian horses with and without aortic rupture.. J Comp Pathol 2016;154:225‐230.
    pubmed: 26987511
  24. Holmes JR, Rezakhani A, Else RW. Rupture of a dissecting aortic aneurysm into the left pulmonary artery.. Equine Vet J 1973;5:65‐70.
    pubmed: 4791733
  25. Van der Linde‐Sipman JS, Kroneman J, Meulenaar H, Vos JH. Necrosis and rupture of the aorta and pulmonary trunk in 4 horses.. Vet Pathol 1985;22:51‐53.
    pubmed: 3976133
  26. Valente AS, Alencar P, Santos AN, de Mesquita Lobo RA, de Mesquita FA, Guimarae AG. Supravalvular aortic stenosis in adult with anomalies of aortic arch vessels and aortic regurgitation.. Rev Bras Cir Cardiovasc 2013;28:545‐549.
    pmc: PMC4389441pubmed: 24598962
  27. Brown JW, Ruzmetov M, Vijay P, Turrentine MW. Surgical repair of congenital supravalvular aortic stenosis in children.. Eur J Cardiothora Surg 2002;21(1):50‐56.
    pubmed: 11788256
  28. Aboulhosn AJ, Child JS. Congenital heart diseases in adults In: Walsh RA, Fang JC, eds. Hurst's the Heart.. 13th ed. New York, NY: McGraw‐Hill Medical; 2013:1904‐1905.
  29. Wren C, Oslizlok P, Bull C. Natural history of supravalvular aortic stenosis and pulmonary artery stenosis.. J Am Coll Cardiol 1990;15:1625‐1630.
    pubmed: 2345244
  30. Aboulhosn AJ, Child JS. Left ventricular outflow obstruction: subaortic stenosis, bicuspid aortic valve, supravalvular aortic stenosis and coarctation of the aorta.. Circulation 2006;114:2412‐2422.
    pubmed: 17130357
  31. Tolenaar JL, Harrison KM, Upchurch GR, Evangelista A, Moll FL. The differences and similarities between intramural hematoma of the descending aorta and acute type B dissection.. J Vasc Surg 2013;58:1498‐1504.
    pubmed: 24060392
  32. Marco AL, Nawaytou O, Von Oppell UO. Late aortic aneurysm after supravalvular aortic stenosis repaired with autologous pericardial patch.. Ann Thorac Surg 2013;95:346‐348.
    pubmed: 23272860
  33. Beitzke A, Becker H, Rigler B, Stein JI, Suppan C. Development of aortic aneurysms in familial supravalvular aortic stenosis.. Pediatr Cardiol 1986;6(4):227‐229.
    pubmed: 3703697
  34. Nataatmadja M, West M, West J. Abnormal extracellular matrix protein transport associated with increased apoptosis of vascular smooth muscle cells in Marfan syndrome and bicuspid aortic valve thoracic aortic aneurysm.. Circulation 2003;108:329‐334.
    pubmed: 12970255
  35. De Boer HH, Dedouit F, Chappex N, van der Wal AC, Michaud K. Sudden aortic death‐proposal for a comprehensive diagnostic approach in forensic and in clinical pathology practice.. Int J Leg Med 2017;131:1565‐1572.
    doi: 10.1007/s00414-017-1560-3pubmed: 28243770google scholar: lookup

Citations

This article has been cited 3 times.
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