Neonatology pp 569-576 | Cite as

Early Diagnosis of Congenital Heart Disease: When and How to Treat

  • Luciane Piazza
  • Angelo Micheletti
  • Diana Negura
  • Carmelo Arcidiacono
  • Antonio Saracino
  • Mario Carminati


Cardiovascular malformation is the most common group of congenital malformations. The prevalence is 5.3 cases per 1000 live births [1, 2, 3]. These malformations represent a significant cause of neonatal morbidity and mortality. Advances in medical and surgical treatment of congenital heart disease (CHD) have resulted in a trend towards an improved outcome in conditions which previously carried high mortality. The antenatal diagnosis of CHD, by fetal echocardiography carries important advantages: 1) prenatal diagnosis is associated with less hypoxia, preoperative acidosis, fewer neurologic events, and early age to surgery [4]; 2) it provides opportunities for parental counseling; 3) it may optimize perinatal care in terms of changes in obstetric and neonatal management with multidisciplinary approach which should reduce mortality and morbility [5,6]. Routine neonatal examination fails to detect many affected babies, because a normal examination does not exclude serious cardiac malformation, including hypoplastic left heart syndrome or other pathologies such as interruption or coarctation of the aortic arch. Considering that about half of the babies with cardiac murmur, detected over the first few days of life, have a structural heart disease [7], these patients should be referred for early pediatric cardiological evaluation and definitive diagnostic echocardiography. Unrecognized neonatal cardiac malformation carries a serious risk of avoidable mortality, morbidity and handicap [8]. Regardless of this, all syndromic babies such as Down syndrome-affected babies who have a high prevalence of congenital heart disease, should be referred for early echocardiographic examination [1]. The key point is that echocardiography is an essential tool in the evaluation of neonates and has dramatically improved the accuracy of diagnosis of congenital heart disease.


Pulmonary Blood Flow Hypoplastic Left Heart Syndrome Arterial Switch Operation Pulmonary Artery Banding Interrupt Aortic Arch 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


  1. 1.
    Wren C, Richmond S, Donaldson L (1999) Presentation of congenital heart disease in infancy: implications for routine examination. Arch Dis Child Fetal Neonatal Ed 80: 49–53CrossRefGoogle Scholar
  2. 2.
    Ferencz C, Rubin JD McCarter RJ et al (1985) Congenital heart disease: prevalence at the live birth. Am J Epidemiol 121: 31–36PubMedGoogle Scholar
  3. 3.
    Kidd SA, Lancaster PAL, McCredie RM (1993) The incidence of congenital heart disease in the first year of live. Am Paediatric Child Health 29: 3444–3449Google Scholar
  4. 4.
    Tworetzky W, McElhinney DB, Reddy VM Et al (2001) Improved surgical outcome after fetal diagnosis of hypoplastic left heart syndrome. Circulation 103: 1269–1273PubMedGoogle Scholar
  5. 5.
    Berkley EMF, Goens MB, Karr S, Rappaport V (2009) Utility of fetal echocardiography in postnatal management of infants with prenatally diagnosed congenital heart disease. Prenat Diagn 29: 654–658PubMedCrossRefGoogle Scholar
  6. 6.
    Chew C, Stone S, Donath SM, Penny DJ (2006) Impact of antenatal screening on the presentation of infants with congenital heart disease to a cardiology unit. J Pediatr Child Health 42: 704–708CrossRefGoogle Scholar
  7. 7.
    Ainsworth SB, Wyllie JP, Wren C (1999) Prevalence and clinical significance of cardiac murmurs in neonates. Arch Dis Child 80: F43–F45Google Scholar
  8. 8.
    Silove ED (1994) Assessment and management of congenital heart disease in the newborn by the district Paediatrician. Arch Dis Child 70: F71–F74Google Scholar
  9. 9.
    Nichols DG, Ungerleider RM, Spevak PJ et al (eds) (2006) Critical heart disease in infants and children, 2nd edn. Mosby Elsevier, PhiladelphiaGoogle Scholar
  10. 10.
    Ahamad U, Fatimi SH, Naqvi I et al (2008) Modified Blalock- Taussig shunt: immediate and short-term follow-up results in neonates. Heart Lung Circ 17: 54–58CrossRefGoogle Scholar
  11. 11.
    de Leval MR, Mckay R, Jones M et al (1981) Modified Blalock- Taussig shunt: Use of subclavian artery orifice as flow regulator in prosthetic systemic pulmonary artery shunts. J Thorac Cardiovasc Surg 81: 112–119PubMedGoogle Scholar
  12. 12.
    Santoro G, Palladino MT, Russo G, Calabrò R (2008) Neonatal Patent Ductus Arteriosus recanalization and stenting in critical Ebstein’s anomaly. Pediatr Cardiol 29: 176–179PubMedCrossRefGoogle Scholar
  13. 13.
    Gewilling M, Boshoff DE, Dens J et al (2004) Stenting the neonatal arterial duct in duct-dependent pulmonary circulation: new techniques, better results. J Am Coll Cardiol 43: 107–112CrossRefGoogle Scholar
  14. 14.
    Santoro G, Gaio G, Palladino MT et al (2008) Stenting of the arterial duct in newborns with duct-dependent pulmonary circulation. Heart 94: 925–929PubMedCrossRefGoogle Scholar
  15. 15.
    Park M (2002) Pediatric Cardiology for practioners, 4th edn. CV Mosby, St. LouisGoogle Scholar
  16. 16.
    Kilian K (2006) Left sided obstructive congenital heart defects. Newborn Infant Nurs Rev 6: 128–136CrossRefGoogle Scholar
  17. 17.
    Bradley SM,Simsic JM, Atz AM (2001) Hemodynamic effects of inspired carbon dioxide after the Norwood procedure. Ann Thorac Surg 72: 2088–2094PubMedCrossRefGoogle Scholar
  18. 18.
    Lim DS, Peeler BB, Matherne GP et al (2006) Risk-stratified approach to hybrid transcatheter-surgical palliation of hypoplasic left heart syndrome. Pediatr Cardiol 27: 91–95PubMedCrossRefGoogle Scholar
  19. 19.
    Akintuerk H, Miche-Behnke I, Valeske K et al (2002) Stenting of the arterial duct and banding o f the pulmonary arteries: basis for combined Norwood stage I and II repair in hypoplastic left heart syndrome. Circulation 105: 1009–1103CrossRefGoogle Scholar
  20. 20.
    Bove El, Lupinetti FM, Pridjian AK et al (1993) Results of a policy of primary repair of truncus arteriosus in the neonates. J Thorac Cardiovasc Surg 105: 1057–1065Google Scholar
  21. 21.
    Konstantinov IE, Karamlou T, Blackstone EH et al (2006) Truncus arteriosus associated with interrupted aortic arch in 50 neonates: a congenital heart surgeons society study. Ann Thorac Surg 81: 214–223PubMedCrossRefGoogle Scholar
  22. 22.
    Martins P, Castela E (2008) Transposition of the great arteries. Orphanet J Rare D 3: 27CrossRefGoogle Scholar
  23. 23.
    Castaneda AR (1999) Arterial switch operation for simple and complex TGA: indication criteria and limitations relevant to surgery. Thorac Cardiovasc Surg 39: 151–154CrossRefGoogle Scholar
  24. 24.
    Daebritz SH, Noller G, Sachweh JS et al (2000) Anatomical risk factors for mortality and cardiac morbidity after arterial switch operation. Ann Thorac Surg 69: 1880–1886PubMedCrossRefGoogle Scholar
  25. 25.
    HassF, Wottke M, Popper H, Meisner H (1999) Long-term survival and functional follow-up in patients after arterial switch operation. AnnThorac Surg 68: 1962–1967Google Scholar
  26. 26.
    Lincoln CR, Rigby ML, Mercanti C et al (1988) Surgical risk factors in total anomalous pulmonary venous connection. Am J Cardiol 61: 608–611PubMedCrossRefGoogle Scholar
  27. 27.
    Lang D, Obenhoffer R, Cook A et al (1991) Pathologic spectrum of malformations of the tricuspid valve in prenatal and neonatal life. J Am Coll Cardiol 17: 1161–1167PubMedCrossRefGoogle Scholar
  28. 28.
    da Cruz E, Billieux MH, Beghetti M (2007) A neonate with isolated combined aortic and pulmonary valvar stenosis. J Cardiol 116: e13–e14Google Scholar
  29. 29.
    Tamesberger MI, Lechner E, Mair R et al (2008) Early primary repair of Tetralogy of Fallot in neonates and infants less than four months of age. Ann Thorac Surg 86: 1928–1935PubMedCrossRefGoogle Scholar
  30. 30.
    Bailliard F, Anderson RH (2008) Tetralogy of Fallot. Orphanet J Rare D 4: 2Google Scholar
  31. 31.
    Limeropoulos C, Majnemer A, Shevell MI et al (1999) Neurologic status of newborns with congenital heart defects before open heart surgery. Pediatrics 103: 402–408CrossRefGoogle Scholar
  32. 32.
    Hirsch J, Mosca R, Bove E (2000) Complete repair of tetralogy of Fallot in the neonate: results in the modern era. Ann Surg 232: 508–514PubMedCrossRefGoogle Scholar
  33. 33.
    Stewart RD, Backer CL, Young L, Mavroudis C (2005) Tetralogy of Fallot: results of a pulmonary valve-sparing strategy. Ann Thorac Surg 80: 1431–1439PubMedCrossRefGoogle Scholar
  34. 34.
    Nicholls DG, Ungerleider RM, Spevak PJ et al (200) Critical heart disease in infants and children, 2nd edn. Mosby Elsevier, Philadelphia, pp 755–766Google Scholar
  35. 35.
    Mckrindle BW, Kan JS (1991) Long-term results after balloon pulmonary valvuloplasty. Circulation. 83: 1915–1922Google Scholar
  36. 36.
    Joshi VS, Brawn WJ, Mee, RB (1966) Pulmonary atresia with intact ventricular septum. J Thorac Cardiovasc Surg 91: 192–197Google Scholar
  37. 37.
    Santos MA, Azevedo VMP (2004) Angiographic morphologic characteristics in pulmonary atresia with ventricular septum. Arq Bras Cardiol 82: 5CrossRefGoogle Scholar
  38. 38.
    Alwi M, Geetha K, Bilkins AA et al (2000) Pulmonary atresia with intact ventricular septum: percutaneus radiofrequency-assisted valvulotomy and balloon dilatation versus surgical valvotomy and Ballock-Taussig shunt. J Am Coll Cardiol 35: 468–476PubMedCrossRefGoogle Scholar
  39. 39.
    Maeno Y, Akagi T, Hashino K et al (1997) Carotid artery approach to balloon aortic valvuloplasty in infants with critical aortic valve stenosis. Pediatr Cardiol 18: 288–291PubMedCrossRefGoogle Scholar
  40. 40.
    Magee AG, Nykanen D, McCrindle BW et al (1997) Balloon dilatation of severe aortic stenosis in the neonate: comparison of antegrade and retrograde catheter approaches. J Am Coll Cardiol 30: 1061–1066PubMedCrossRefGoogle Scholar
  41. 41.
    Rao S (2005) Diagnosis and management of acyanotic heart disease. Part 1: obstructive lesions. Indian J Pediatr 72: 495–502CrossRefGoogle Scholar
  42. 42.
    Andrew CF, Fischer LK, Schwartz T et al (2005) Comparison of angioplasty and surgery for neonatal aortic coarctation. Ann Thorac Surg 80: 1659–1665CrossRefGoogle Scholar
  43. 43.
    Fyler DC (ed) (1992) Nada’s pediatric cardiology. Hanley & Belfus, PhiladelphiaGoogle Scholar

Copyright information

© Springer-Verlag Italia 2012

Authors and Affiliations

  • Luciane Piazza
  • Angelo Micheletti
  • Diana Negura
  • Carmelo Arcidiacono
  • Antonio Saracino
  • Mario Carminati
    • 1
  1. 1.Department of Pediatric Cardiology and Adult Congenital Heart DiseaseIRCCS Policlinico San DonatoSan Donato MilaneseItaly

Personalised recommendations