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Total anomalous pulmonary venous connection

Autopsy considerations

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Abstract

Total anomalous pulmonary venous connection (TAPVC), where the pulmonary venous circulation drains into the systemic venous circulation rather than into the left atrium, may present a number of problems at autopsy. A 5-week-old infant is reported who died suddenly and unexpectedly who was found at autopsy to have infradiaphragmatic TAPVC into the portal vein. The only associated anomalies were a tri-lobed left lung, a patent ductus arteriosus, and drainage of the inferior vena cava into the both the right and left atria. This case demonstrates particular features that may lead to difficulties in establishing the diagnosis of TAPVC. Sudden death in the absence of symptoms in this age group raises the possibilities of sudden infant death syndrome (SIDS) and inflicted injury, both of which were discounted in this case. An autopsy approach is outlined to maximize chances of diagnosing this entity that includes meticulous inspection and dissection of cardiac vascular connections before evisceration, with photographic documentation of findings. Concurrent cardiovascular abnormalities, including valve atresias, septal defects, and left heart hypoplasia are likely in the presence of asplenia/polysplenia syndrome. Extracardiac anomalies may be present in the form of Holt-Oram, Ellis-van Creveld, and cat eye syndromes. Careful examination of the common draining vein for obstructive features is an important part of the postmortem assessment. The possibility of heritable cases requires referral of the family for genetic evaluation.

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References

  1. Wilson J, XIII. A description of a very unusual formation of the human heart. Phil Trans Roy Soc London 1798;88:346–356.

    Article  Google Scholar 

  2. Byard RW, Moore L. Total anomalous pulmonary venous drainage and sudden death in infancy. Forensic Sci Int 1991;51:197–202.

    Article  PubMed  CAS  Google Scholar 

  3. Hogan DF, Green HW, Van Alstine WG. Total anomalous pulmonary venous drainage in a dog. J Vet Intern Med 2002;16:303–308.

    Article  PubMed  Google Scholar 

  4. Correa-Villasenor A, Ferencz C, Boughman JA, Neill CA. Total anomalous pulmonary venous return: familial and environmental factors. The Baltimore-Washington Infant Study Group. Teratology 1991;44:415–428.

    Article  PubMed  CAS  Google Scholar 

  5. Solymar L, Sabel KJ, Zetterquist P. Total anomalous pulmonary venous connection in siblings: report on three families. Acta Paediatr Scand 1987;76:124–127.

    PubMed  CAS  Google Scholar 

  6. Darling RC, Rothney WB, Craig JM. Total pulmonary venous drainage into the right side of the heart: Report of 17 autopsied cases not associated with other major cardiovascular anomalies. Lab Invest 1957;6:44–64.

    PubMed  Google Scholar 

  7. Emmel M, Sreeram N. Total anomalous pulmonary venous connection: diagnosis, management and outcome. Curr Treat Options Cardiovasc Med 2004;6:423–429.

    Article  PubMed  Google Scholar 

  8. James CL, Keeling JW, Smith NM, Byard RW. Total anomalous pulmonary venous drainage (TAPVC) associated with fatal outcome in infancy and early childhood—an autopsy study of 52 cases. Pediatr Pathol 1994;14:665–678.

    PubMed  CAS  Google Scholar 

  9. Hawkins JA, Clark EB, Doty DB. Total anomalous pulmonary venous connection. Ann Thorac Surg 1983;36:548–560.

    Article  PubMed  CAS  Google Scholar 

  10. Hammon JW Jr., Bender HW Jr. Major anomalies of pulmonary and thoracic systemic veins. In: Sabiston DC, Spencer FC eds. Surgery of the Chest. 5th ed. Vol. 2. Philadelphia: W.B. Saunders, 1990, pp. 1274–1297.

    Google Scholar 

  11. Rammos S, Gittenberger-de Groot AC, Oppenheimer-Dekker A. The abnormal pulmonary venous connexion: A developmental approach. Int J Cardiol 1990;29:285–295.

    Article  PubMed  CAS  Google Scholar 

  12. Delisle G, Ando M, Calder AL, et al. Total anomalous pulmonary venous connection: report of 93 autopsied cases with emphasis on diagnostic and surgical considerations. Am Heart J 1976;91:99–122.

    Article  PubMed  CAS  Google Scholar 

  13. Lamb RK, Qureshi SA, Wilkinson JL, Arnold R, West CR, Hamilton DI. Total anomalous pulmonary venous drainage: seventeen-year surgical experience. J Thorac Cardiovasc Surg 1988;96:368–375.

    PubMed  CAS  Google Scholar 

  14. Jensen JB, Blount SB Jr. Total anomalous pulmonary venous return: a review and report of the oldest surviving patient. Am Heart J 1971;82:387–407.

    Article  PubMed  CAS  Google Scholar 

  15. Gathman GE, Nadas AS. Total anomalous pulmonary venous connection: clinical and physiologic observations of 75 pediatric patients. Circulation 1970;42:143–154.

    PubMed  CAS  Google Scholar 

  16. Bonham-Carter RE, Capriles M, Noe Y. Total anomalous pulmonary venous drainage: A clinical and anatomical study of 75 children. Br Heart J 1969;31:45–51.

    Google Scholar 

  17. Sano S, Brown WJ, Mee RBB. Total anomalous pulmonary venous drainage. J Thorac Cardiovasc Surg 1989;97:886–892.

    PubMed  CAS  Google Scholar 

  18. Neill CA, Ferenz C, Sabiston DC, Sheldon H. The familial occurrence of hypoplastic right lung with systemic arterial supply and venous drainage “scimitar syndrome”. Bull Johns Hopkins Hosp 1960;107:1–21.

    PubMed  CAS  Google Scholar 

  19. Vanderheyden M, Goethals M, Van Hoe L. Partial anomalous pulmonary venous connection or scimitar syndrome. Heart 2003;89:761.

    Article  PubMed  CAS  Google Scholar 

  20. Kaufman RL, Boynton RC, Hartmann AF, Morgan BC, McAlister WH. Familial studies in congenital heart disease III: Total anomalous venous connection in two sisters and their female maternal first cousin. Birth Defects 1972;8:88–91.

    Google Scholar 

  21. Paz JE, Castilla EE. Familial total anomalous pulmonary venous return. J Med Genet 1971;8:312–314.

    Article  PubMed  CAS  Google Scholar 

  22. Bleyl S, Nelson L, Odelberg SJ, et al. A gene for familial total anomalous pulmonary venous return maps to chromosome 4p13-q12. Am J Hum Genet 1995;56:408–415.

    PubMed  CAS  Google Scholar 

  23. Byard RW. Vascular conditions. In: Sudden Death in Infancy Childhood and Adolescence. Cambridge: Cambridge University Press, 2004, pp. 249–328.

    Google Scholar 

  24. Bossert T, Walther T, Gummert J, Hubald R, Kostelka M, Mohr FW. Cardiac malformations associated with the Holt-Oram syndrome—report on a family and review of the literature. Thorac Cardiovasc Surg 2002;50:312–314.

    Article  PubMed  CAS  Google Scholar 

  25. Sergi C, Voigtlander T, Zoubaa S, et al. Ellis-van Creveld syndrome: a generalized dysplasia of endochondral ossification. Pediatr Radiol 2001;31:289–293.

    Article  PubMed  CAS  Google Scholar 

  26. Rosias PR, Sijstermans JM, Theunissen PM, et al. Phenotypic variability of the cat eye syndrome. Case report and review of the literature. Gent Couns 2001;12:273–282.

    CAS  Google Scholar 

  27. Newfeld EA, Wilson A, Paul MH, Reisch JS. Pulmonary vascular disease in total anomalous pulmonary venous drainage. Circulation 1980;61:103–109.

    PubMed  CAS  Google Scholar 

  28. Lucas RV Jr., Adams P, Anderson RC, Varco RL, Edwards JE, Lester RG. Total anomalous pulmonary venous connection to the portal venous system: A cause of pulmonary venous obstruction. Am J Roentgenol 1961;86:561–575.

    Google Scholar 

  29. Nakib A, Moller JH, Kanjuh VI, Edwards JE. Anomalies of the pulmonary veins. Am J Cardiol 1967;20:77–90.

    Article  PubMed  CAS  Google Scholar 

  30. Seo JW, Lee HJ, Choi JY, Choi YH, Lee JR. Pulmonary veins in total anomalous pulmonary venous connection with obstruction: Demonstration using silicone rubber casts. Pediatr Pathol 1991;11:711–720.

    PubMed  CAS  Google Scholar 

  31. Maeda K, Yamaki S, Yokota M, Murakami A, Takamoto S. Hypoplasia of the small pulmonary arteries in total anomalous pulmonary venous connection with obstructed pulmonary venous drainage. J Thorac Cardiovasc Surg 2004;127:448–456.

    Article  PubMed  Google Scholar 

  32. Redington AN, Raine J, Shinebourne EA, Rigby ML. Tetralogy of Fallot with anomalous pulmonary venous connections: a rare but clinically important association. Br Heart J 1990;64:325–328.

    PubMed  CAS  Google Scholar 

  33. Devine WA, Debich DE, Anderson RH. Dissection of congenitally malformed hearts, with comments on the value of sequential segmental analysis. Pediatr Pathol 1991;11:235–259.

    PubMed  CAS  Google Scholar 

  34. Bharati S, Lev M. Congenital anomalies of the pulmonary veins. Cardiovasc Clin 1973;5:23–41.

    PubMed  CAS  Google Scholar 

  35. DeLeon SY, Gidding SS, Ilbawi MN, et al. Surgical management of infants with complex cardiac anomalies associated with reduced pulmonary blood flow and total anomalous pulmonary venous drainage. Ann Thorac Surg 1987;43:207–211.

    Article  PubMed  CAS  Google Scholar 

  36. Murphy JD. Hypoplastic left-heart syndrome in children. Curr Opin Pediatr 1991;3:803–809.

    Article  Google Scholar 

  37. Caldarone CA, Behrendt DM. Total anomalous pulmonary venous drainage associated with complex cardiac anatomy. Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu 2000;3:142–152.

    PubMed  Google Scholar 

  38. Krous HF, Beckwith JB, Byard RW, et al. Sudden infant death syndrome (SIDS) and unclassified sudden infant deaths (USID): a definitional and diagnostic approach. Pediatrics 2004;114:234–238.

    Article  PubMed  Google Scholar 

  39. Edwards JE. Pathologic and developmental considerations in anomalous pulmonary venous connection. Mayo Clin Proc 1953;28:441–462.

    CAS  Google Scholar 

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Authors and Affiliations

  1. Forensic Science SA and University of Adelaide, Adelaide, Australia

    Roger W. Byard & John D. Gilbert

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  1. Roger W. Byard
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  2. John D. Gilbert
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Correspondence to Roger W. Byard.

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Byard, R.W., Gilbert, J.D. Total anomalous pulmonary venous connection. Forens Sci Med Pathol 1, 215–220 (2005). https://doi.org/10.1385/FSMP:1:3:215

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