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Total Anomalous Pulmonary Venous Connection Clinical Presentation

  • Author: Allen D Wilson, MD; Chief Editor: Howard S Weber, MD, FSCAI  more...
 
Updated: May 02, 2015
 

History

Patients with pulmonary vein obstruction

Pulmonary venous obstruction occurs in virtually all patients with subdiaphragmatic drainage and in approximately 50% of patients with supracardiac drainage. Patients with obstruction develop symptoms early, usually at age 24-36 hours, including tachypnea, tachycardia, and cyanosis. Signs of pulmonary hypertension progress with decreasing pulmonary blood flow and worsening cyanosis. Natural history is that of progressive clinical deterioration and early death in the first week or month of life, depending on the degree of pulmonary venous obstruction.

Physical examination findings include severe cyanosis with significant respiratory distress. Cardiac impulse is prominent anteriorly, but, usually, the heart is not clinically enlarged. The pulmonary component of the second heart sound is increased, and a gallop may be present. A murmur usually is not present, yet a systolic murmur over the pulmonary area or a tricuspid insufficiency murmur at the mid and lower left sternal border may be observed. Peripheral pulses are usually normal after birth but may decrease as heart failure progresses. Liver enlargement commonly occurs, especially in total anomalous pulmonary venous connection (TAPVC) type III, subdiaphragmatic drainage.

Patients without pulmonary venous obstruction

Patients with unobstructed pulmonary venous flow present with symptoms more similar to a very large atrial septal defect. Mild failure to thrive with greater respiratory effort than normal with activity or recurrent respiratory infections may be present. Often, chest radiography in patients with respiratory infections reveals significant cardiac enlargement.

Physical examination findings suggest right ventricular volume loading with increase in right ventricular impulse, a wide split-second sound (usually with normal-intensity pulmonary closure), and pulmonary outflow murmur with or without a tricuspid diastolic murmur. Cyanosis infrequently occurs in the first year of life.

Reverse difference cyanosis has been reported in the newborn period in total anomalous pulmonary venous connection to the superior vena cava (SVC). In this setting highly saturated blood in the SVC streams preferentially from right ventricle across ductus arteriosus to descending aorta; lower saturated blood in inferior vena cava streams across the foramen ovale to the left heart and aorta, resulting in higher saturation in the foot than in the right hand.[8]

If a restriction develops in the foramen ovale, some degree of pulmonary hypertension is more likely, with earlier onset of tachypnea, louder pulmonary closure sound, more prominent right ventricular impulse, and a greater likelihood of systemic and pulmonary venous congestion.

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Causes

Sociodemographic findings in patients with total anomalous pulmonary venous connection were similar to those in control subjects.[3] Family history showed no other family members with total anomalous pulmonary venous connection. Noncardiac malformations were present in 9 patients (22%); however, other cardiac and noncardiac malformations were present in 6 first-degree relatives and 7 second-degree relatives of patients with isolated cases (41%). Altogether, a genetic etiology was suspected to contribute to a "failure of targeted pulmonary vein growth" because of the number of multiplex families. In addition, total anomalous pulmonary venous connection has been reported in siblings in other series.

Exposure histories showed possible association of total anomalous pulmonary venous connection with lead or pesticide exposure and raised questions of familial susceptibility to certain environmental teratogens.

Total anomalous pulmonary venous connection frequently occurs in association with asplenia and pulmonary atresia. Overall, one third of patients with total anomalous pulmonary venous connection have a major associated cardiovascular malformation and two thirds of patients have isolated total anomalous pulmonary venous connection.

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Contributor Information and Disclosures
Author

Allen D Wilson, MD Professor, Department of Pediatrics, University of Wisconsin School of Medicine and Public Health; Department of Pediatrics, University of Wisconsin Hospital and Clinics

Allen D Wilson, MD is a member of the following medical societies: American College of Cardiology, American Heart Association, American Society of Echocardiography, Society of Pediatric Echocardiography

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

John W Moore, MD, MPH Professor of Clinical Pediatrics, Section of Pediatic Cardiology, Department of Pediatrics, University of California San Diego School of Medicine; Director of Cardiology, Rady Children's Hospital

John W Moore, MD, MPH is a member of the following medical societies: American Academy of Pediatrics, American College of Cardiology, Society for Cardiovascular Angiography and Interventions

Disclosure: Nothing to disclose.

Chief Editor

Howard S Weber, MD, FSCAI Professor of Pediatrics, Section of Pediatric Cardiology, Pennsylvania State University College of Medicine; Director of Interventional Pediatric Cardiology, Penn State Hershey Children's Hospital

Howard S Weber, MD, FSCAI is a member of the following medical societies: American Academy of Pediatrics, American College of Cardiology, Society for Cardiovascular Angiography and Interventions

Disclosure: Received income in an amount equal to or greater than $250 from: St. Jude Medical.

Additional Contributors

Juan Carlos Alejos, MD Clinical Professor, Department of Pediatrics, Division of Cardiology, University of California, Los Angeles, David Geffen School of Medicine

Juan Carlos Alejos, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Cardiology, American Heart Association, American Medical Association, International Society for Heart and Lung Transplantation

Disclosure: Received honoraria from Actelion for speaking and teaching.

References
  1. Seale A, Carvalho J, Gardiner H, Mellander M, Roughton M, Simpson J, et al. Total anomalous pulmonary venous connection: impact of prenatal diagnosis. Ultrasound Obstet Gynecol. 2012 Jan 20. [Medline].

  2. Douglas YL, Jongbloed MR, den Hartog WC, Bartelings MM, Bogers AJ, Ebels T. Pulmonary vein and atrial wall pathology in human total anomalous pulmonary venous connection. Int J Cardiol. 2009 May 29. 134(3):302-12. [Medline].

  3. 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 Oct. 44(4):415-28. [Medline].

  4. Khan MS, Bryant R 3rd, Kim SH, et al. Contemporary outcomes of surgical repair of total anomalous pulmonary venous connection in patients with heterotaxy syndrome. Ann Thorac Surg. 2015 Apr 23. [Medline].

  5. Mackie AS, Vatanpour S, Alton GY, et al, for the Western Canadian Complex Pediatric Therapies Program Follow-Up Group. Clinical outcome score predicts adverse neurodevelopmental outcome after infant heart surgery. Ann Thorac Surg. 2015 Apr 22. [Medline].

  6. Devaney EJ, Chang AC, Ohye RG, Bove EL. Management of congenital and acquired pulmonary vein stenosis. Ann Thorac Surg. 2006 Mar. 81(3):992-5; discussion 995-6. [Medline].

  7. Chowdhury UK, Airan B, Malhotra A, Bisoi AK, Saxena A, Kothari SS. Mixed total anomalous pulmonary venous connection: anatomic variations, surgical approach, techniques, and results. J Thorac Cardiovasc Surg. 2008 Jan. 135(1):106-16, 116.e1-5. [Medline].

  8. Yap SH, Anania N, Alboliras ET, Lilien LD. Reversed differential cyanosis in the newborn: a clinical finding in the supracardiac total anomalous pulmonary venous connection. Pediatr Cardiol. 2009 Apr. 30(3):359-62. [Medline].

  9. Kyser JP, Bengur AR, Siwik ES. Preoperative palliation of newborn obstructed total anomalous pulmonary venous connection by endovascular stent placement. Catheter Cardiovasc Interv. 2006 Mar. 67(3):473-6. [Medline].

  10. Narula N, Wilson N, Kumar RS. Transcatheter closure of persistent unligated vertical vein after TAPVC surgery using the Amplatzer PDA device. Catheter Cardiovasc Interv. 2007 Jul 1. 70(1):117-9. [Medline].

  11. Kobayashi D, Forbes TJ, Delius RE, Aggarwal S. Amplatzer vascular plug for transcatheter closure of persistent unligated vertical vein after repair of infracardiac total anomalous pulmonary venous connection. Catheter Cardiovasc Interv. 2012 Mar 15. [Medline].

  12. Chang YY, Chang CI, Wang MJ, et al. The safe use of intraoperative transesophageal echocardiography in the management of total anomalous pulmonary venous connection in newborns and infants: a case series. Paediatr Anaesth. 2005 Nov. 15(11):939-43. [Medline].

  13. Behrendt DM, Aberdeen E, Waterson DJ, Bonham-Carter RE. Total anomalous pulmonary venous drainage in infants. I. Clinical and hemodynamic findings, methods, and results of operation in 37 cases. Circulation. 1972 Aug. 46(2):347-56. [Medline].

  14. Castenada AR, Jonas RA, Mayer JE, Hanley FL. Cardiac Surgery of the Neonate and Infant. Philadelphia, Pa: WB Saunders Co; 1994. 165.

  15. Cheung YF, Lun KS, Chau AK, Chiu CS. Fate of the unligated vertical vein after repair of supracardiac anomalous pulmonary venous connection. J Paediatr Child Health. 2005 Jul. 41(7):361-4. [Medline].

  16. Choe YH, Lee HJ, Kim HS, Ko JK, Kim JE, Han JJ. MRI of total anomalous pulmonary venous connections. J Comput Assist Tomogr. 1994 Mar-Apr. 18(2):243-9. [Medline].

  17. Craig JM, Darling RC, Rothney WB. 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 Jan-Feb. 6(1):44-64. [Medline].

  18. Duff DF, Nihill MR, McNamara DG. Infradiaphragmatic total anomalous pulmonary venous return. Review of clinical and pathological findings and results of operation in 28 cases. Br Heart J. 1977 Jun. 39(6):619-26. [Medline].

  19. Edwards JE. Pathologic and developmental considerations in anomalous pulmonary venous connection. Proc Staff Meet Mayo Clin. 1953 Aug 26. 28(17):441-52. [Medline].

  20. Graham TP Jr, Jarmakani JM, Canent RV Jr. Left heart volume characteristics with a right ventricular volume overload. Total anomalous pulmonary venous connection and large atrial septal defect. Circulation. 1972 Feb. 45(2):389-96. [Medline].

  21. Hancock Friesen CL, Zurakowski D, Thiagarajan RR, et al. Total anomalous pulmonary venous connection: an analysis of current management strategies in a single institution. Ann Thorac Surg. 2005 Feb. 79(2):596-606; discussion 596-606. [Medline].

  22. Haworth SG. Total anomalous pulmonary venous return. Prenatal damage to pulmonary vascular bed and extrapulmonary veins. Br Heart J. 1982 Dec. 48(6):513-24. [Medline].

  23. Hong YK, Park YW, Ryu SJ, et al. Efficacy of MRI in complicated congenital heart disease with visceral heterotaxy syndrome. J Comput Assist Tomogr. 2000 Sep-Oct. 24(5):671-82. [Medline].

  24. Huhta JC, Gutgesell HP, Nihill MR. Cross sectional echocardiographic diagnosis of total anomalous pulmonary venous connection. Br Heart J. 1985 May. 53(5):525-34. [Medline].

  25. Jonas RA, Smolinsky A, Mayer JE, Castaneda AR. Obstructed pulmonary venous drainage with total anomalous pulmonary venous connection to the coronary sinus. Am J Cardiol. 1987 Feb 15. 59(5):431-5. [Medline].

  26. Kimball TR, Weiss RG, Meyer RA, Daniels SR, Ryckman FC, Schwartz DC. Color flow mapping to document normal pulmonary venous return in neonates with persistent pulmonary hypertension being considered for extracorporeal membrane oxygenation. J Pediatr. 1989 Mar. 114(3):433-7. [Medline].

  27. Kirshbom PM, Flynn TB, Clancy RR, et al. Late neurodevelopmental outcome after repair of total anomalous pulmonary venous connection. J Thorac Cardiovasc Surg. 2005 May. 129(5):1091-7. [Medline].

  28. Lin SC, Teng RJ, Wang JK. Management of severe pulmonary hypertension in an infant with obstructed total anomalous pulmonary venous return using magnesium sulfate. Int J Cardiol. 1996 Oct 11. 56(2):131-5. [Medline].

  29. Lucas RV, Anderson RC, Amplatz K, Adams P Jr, Edwards JE. Congenital causes of pulmonary venous obstruction. Pediatr Clin North Am. 1963 Aug. 10:781-836. [Medline].

  30. Maeda K, Yamaki S, Kado H, Asou T, Murakami A, Takamoto S. Hypoplasia of the small pulmonary arteries in hypoplastic left heart syndrome with restrictive atrial septal defect. Circulation. 2004 Sep 14. 110(11 Suppl 1):II139-46. [Medline]. [Full Text].

  31. Morin FC 3rd. Prostaglandin E1 opens the ductus venosus in the newborn lamb. Pediatr Res. 1987 Mar. 21(3):225-8. [Medline].

  32. Emmanouilides GC, Gutgesell HP, Riemenschneider TA, Allen HD, eds. Moss and Adams Heart Disease in Infants, Children and Adolescents: Including the Fetus and Young Adult. 5th ed. Williams & Wilkins; 1995. 874-901.

  33. Neill CA. Development of the pulmonary veins; with reference to the embryology of anomalies of pulmonary venous return. Pediatrics. 1956 Dec. 18(6):880-7. [Medline].

  34. Norwood WI, Hougen TJ, Castaneda AR. Total anomalous pulmonary venous connection: surgical considerations. Cardiovasc Clin. 1981. 11(2):353-64. [Medline].

  35. Ricci M, Elliott M, Cohen GA, et al. Management of pulmonary venous obstruction after correction of TAPVC: risk factors for adverse outcome. Eur J Cardiothorac Surg. 2003 Jul. 24(1):28-36; discussion 36. [Medline].

  36. Rosales AM, Bolivar J, Burke RP, Chang AC. Adverse hemodynamic effects observed with inhaled nitric oxide after surgical repair of total anomalous pulmonary venous return. Pediatr Cardiol. 1999 May-Jun. 20(3):224-6. [Medline].

  37. Sahn DJ, Allen HD, Lange LW, Goldberg SJ. Cross-sectional echocardiographic diagnosis of the sites of total anomalous pulmonary venous drainage. Circulation. 1979 Dec. 60(6):1317-25. [Medline].

  38. Sano S, Brawn WJ, Mee RB. Total anomalous pulmonary venous drainage. J Thorac Cardiovasc Surg. 1989 Jun. 97(6):886-92. [Medline].

  39. Smallhorn JF, Sutherland GR, Tommasini G, Hunter S, Anderson RH, Macartney FJ. Assessment of total anomalous pulmonary venous connection by two-dimensional echocardiography. Br Heart J. 1981 Dec. 46(6):613-23. [Medline].

  40. Solymar L, Sabel KG, Zetterqvist P. Total anomalous pulmonary venous connection in siblings. Report on three families. Acta Paediatr Scand. 1987 Jan. 76(1):124-7. [Medline].

  41. Tasaka H, Krug EL, Markwald RR. Origin of the pulmonary venous orifice in the mouse and its relation to the morphogenesis of the sinus venosus, extracardiac mesenchyme (spina vestibuli), and atrium. Anat Rec. 1996 Sep. 246(1):107-13. [Medline].

  42. Valsangiacomo ER, Hornberger LK, Barrea C, Smallhorn JF, Yoo SJ. Partial and total anomalous pulmonary venous connection in the fetus: two-dimensional and Doppler echocardiographic findings. Ultrasound Obstet Gynecol. 2003 Sep. 22(3):257-63. [Medline].

  43. van der Velde ME, Parness IA, Colan SD, et al. Two-dimensional echocardiography in the pre- and postoperative management of totally anomalous pulmonary venous connection. J Am Coll Cardiol. 1991 Dec. 18(7):1746-51. [Medline].

  44. Ward KE, Mullins CE. Anomalous pulmonary venous connections. The Science and Practice of Pediatric Cardiology. 2nd ed. Williams & Wilkins; 1998.

  45. Ward KE, Mullins CE, Huhta JC, Nihill MR, McNamara DG, Cooley DA. Restrictive interatrial communication in total anomalous pulmonary venous connection. Am J Cardiol. 1986 May 1. 57(13):1131-6. [Medline].

  46. Wilson AD, Rao PS, Aeschlimann S. Normal fetal foramen flap and transatrial Doppler velocity pattern. J Am Soc Echocardiogr. 1990 Nov-Dec. 3(6):491-4. [Medline].

 
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Types of total anomalous pulmonary venous connection.
 
 
 
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