Neonatology pp 1065-1078 | Cite as

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

  • Francesca R. PluchinottaEmail author
  • Luciane Piazza
  • Angelo Micheletti
  • Javier Fernandez Sarabia
  • Diana Negura
  • Carmelo Arcidiacono
  • Antonio Saracino
  • Mario Carminati
Reference work entry


Cardiovascular malformation is the most common group of congenital malformations. The prevalence is 5.3 cases per 1,000 live births. 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 improved outcome for conditions which previously carried high mortality. Unrecognized neonatal cardiac malformation carries a serious risk of avoidable mortality, morbidity, and handicap. Routine neonatal examination fails to detect many affected babies, because a normal physical examination does not exclude serious cardiac malformation, including hypoplastic left heart syndrome or interruption or coarctation of the aortic arch. Babies with a cardiac murmur detected over the first few days of life should be referred for early pediatric cardiological evaluation and definitive diagnostic echocardiography. All syndromic babies such as those with Down’s syndrome should be referred for early echocardiographic examination. Echocardiography is an essential tool in the evaluation of neonates and has dramatically improved the accuracy of diagnosis of congenital heart disease. The antenatal diagnosis of CHD by fetal echocardiography carries important advantages: less hypoxia and preoperative acidosis, fewer adverse neurological events and earlier surgery, opportunities for parental counseling, and the optimization of perinatal care with the selection of an optimal site for delivery.


  1. 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
  2. Ainsworth SB, Wyllie JP, Wren C (1999) Prevalence and clinical significance of cardiac murmurs in neonates. Arch Dis Child 80:F43–F45CrossRefGoogle Scholar
  3. 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
  4. Alwi M, Geetha K, Bilkins AA et al (2000) Pulmonary atresia with intact ventricular septum: percutaneous radiofrequency-assisted valvulotomy and balloon dilatation versus surgical valvotomy and Blalock-Taussig shunt. J Am Coll Cardiol 35:468–476CrossRefGoogle Scholar
  5. 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
  6. Bailliard F, Anderson RH (2008) Tetralogy of fallot. Orphanet J Rare D 4:2CrossRefGoogle Scholar
  7. 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 29:654–658CrossRefGoogle Scholar
  8. Bradley SM, Simsic JM, Atz AM (2001) Hemodynamic effects of inspired carbon dioxide after the norwood procedure. Ann Thorac Surg 72:2088–2094CrossRefGoogle Scholar
  9. 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
  10. 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
  11. da Cruz E, Billieux MH, Beghetti M (2007) A neonate with isolated combined aortic and pulmonary valvar stenosis. J Cardiol 116:e13–e14Google Scholar
  12. Daebritz SH, Noller G, Sachweh JS et al (2000) Anatomical risk factors for mortality and cardiac morbidity after arterial switch operation. Ann Thorac Surg 69:1880–1886CrossRefGoogle Scholar
  13. 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
  14. El B, 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
  15. Ferencz C, Rubin JD, McCarter RJ et al (1985) Congenital heart disease: prevalence at live birth. Am J Epidemiol 121:31–36CrossRefGoogle Scholar
  16. Fyler DC (ed) (1992) Nadas’ pediatric cardiology. Hanley & Bel- fus, PhiladelphiaGoogle Scholar
  17. 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
  18. Grotenhuis HB, Ruijsink B, Chetan D et al (2016) Impact of norwood versus hybrid palliation on cardiac size and function hypoplastic left heart syndrome. Heart 0:1–9Google Scholar
  19. Hass F, 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
  20. Hirsch J, Mosca R, Bove E (2000) Complete repair of tetralogy of fallot in the neonate: results in the modern era. Ann Surg 232:508–514CrossRefGoogle Scholar
  21. Joshi VS, Brawn WJ, Mee RB (1966) Pulmonary atresia with intact ventricular septum. J Thorac Cardiovasc Surg 91:192–197Google Scholar
  22. Kidd SA, Lancaster PAL, McCredie RM (1993) The incidence of congenital heart disease in the first year of life. Am Paediatric Child Health 29:3444–3449Google Scholar
  23. Kilian K (2006) Left-sided obstructive congenital heart defects. Newborn Infant Nurs Rev 6:128–136CrossRefGoogle Scholar
  24. 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 81:214–222CrossRefGoogle Scholar
  25. 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 17:1161–1167CrossRefGoogle Scholar
  26. Lim DS, Peeler BB, Matherne GP et al (2006) Risk-stratified approach to hybrid transcatheter-surgical palliation of hypoplastic left heart syndrome. Pediatr Cardiol 27:91–95CrossRefGoogle Scholar
  27. 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
  28. Lincoln CR, Rigby ML, Mercanti C et al (1988) Surgical risk factors in total anomalous pulmonary venous connection. Am J Cardiol 61:608–611CrossRefGoogle Scholar
  29. 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 18:288–291CrossRefGoogle Scholar
  30. Magee AG, Nykanen D, McCrindle BW et al (1997) Balloon dilation of severe aortic stenosis in the neonate: comparison of antegrade and retrograde catheter approaches. J Am Coll Cardiol 30:1061–1066CrossRefGoogle Scholar
  31. Martins P, Castela E (2008) Transposition of the great arteries. Orphanet J Rare D 3:27CrossRefGoogle Scholar
  32. Mckrindle BW, Kan JS (1991) Long-term results after balloon pulmonary valvuloplasty. Circulation 83:1915–1922CrossRefGoogle Scholar
  33. Nicholls DG, Ungerleider RM, Spevak PJ et al (2006) Critical heart disease in infants and children, 2nd edn. Mosby Elsevier, Philadelphia, pp 755–766Google Scholar
  34. Nichols DG, Ungerleider RM, Spevak PJ et al (eds) (2006) Critical heart disease in infants and children, 2nd edn. Philadelphia, Mosby ElsevierGoogle Scholar
  35. ParK M (2002) Pediatric cardiology for practitioners, 4th edn. CV Mosby, St. LouisGoogle Scholar
  36. Rao S (2005) Diagnosis and management of acyanotic heart disease. Part 1: obstructive lesions. Indian J Pediatr 72:495–502CrossRefGoogle Scholar
  37. Santoro G, Palladino MT, Russo G, Calabrò R (2008a) Neonatal patent ductus arteriosus recanalization and stenting in critical Ebstein’s anomaly. Pediatr Cardiol 29:176–179CrossRefGoogle Scholar
  38. Santoro G, Gaio G, Palladino MT et al (2008b) Stenting of the arterial duct in newborns with duct-dependent pulmonary circulation. Heart 94:925–929CrossRefGoogle Scholar
  39. Santos MA, Azevedo VMP (2004) Angiographic morphologic characteristics in pulmonary atresia with ventricular septum. Arq Bras Cardiol 82:5CrossRefGoogle Scholar
  40. Silove ED (1994) Assessment and management of congenital heart disease in the newborn by the district Paediatrician. Arch Dis Child 70:F71–F74CrossRefGoogle Scholar
  41. Stewart RD, Backer CL, Young L, Mavroudis C (2005) Tetralogy of fallot: results of a pulmonary valve-sparing strategy. Ann Thorac Surg 80:1431–1439CrossRefGoogle Scholar
  42. 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 86:1928–1935CrossRefGoogle Scholar
  43. Tworetzky W, McElhinney DB, Reddy VM et al (2001) Improved surgical outcome after fetal diagnosis of hypoplastic left heart syndrome. Circulation 103:1269–1273CrossRefGoogle Scholar
  44. Villafañe J, Lantin-Hermoso R, Tweddell JS et al (2014) D-transposition of the great arteries. The current era of the arterial switch operation. J Am College Cardiol 64:498–511CrossRefGoogle Scholar
  45. 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

Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  • Francesca R. Pluchinotta
    • 1
    Email author
  • Luciane Piazza
    • 2
  • Angelo Micheletti
    • 2
  • Javier Fernandez Sarabia
    • 2
  • Diana Negura
    • 2
  • Carmelo Arcidiacono
    • 2
  • Antonio Saracino
    • 2
  • Mario Carminati
    • 2
  1. 1.Department of Pediatric CardiologyIRCCS Policlinico San DonatoSan SiroItaly
  2. 2.Centro Cardiologia Pediatrica Policlinico San DonatoMilanoItaly

Personalised recommendations