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Congenital Heart Disease: A Medical Overview

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Clinical Psychology and Congenital Heart Disease

Abstract

Congenital heart disease with an approximate incidence of 1 % and a prevalence at birth of 5–11 per 1,000 live births (Hoffman and Kaplan, J Am Coll Cardiol 39(12):1890–900, 2002) is the most common inborn defect. By definition, “congenital” heart disease means usually a disease that has been present since birth. However, a wide variety of defects can be either not present or not evident from birth. Those present but not usually detected in early life include lesions such as a moderate size atrial septal defect. Others that are only anatomically present in later years with a latent predisposition prior to this, such as subaortic stenosis or many of the cardiomyopathies, are not strictly “congenital” but are often included in this group.

The most important physiopathologic aspects of the congenital cardiac malformations are the presence of shunt between arterial and venous blood and presence or absence of cyanosis.

Although congenital cardiac malformations may be classified in various ways, we propose a simplified classification in four subgroups of malformations: septal defects, defects of the outflow tracts and great vessels, univentricular hearts, and other malformations.

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References

  1. Hoffman JI, Kaplan S (2002) The incidence of congenital heart disease. J Am Coll Cardiol 39(12):1890–1900

    Article  PubMed  Google Scholar 

  2. Pacifico AD, Soto B, Bargeron LM (1979) Surgical treatment of straddling tricuspid valves. Circulation 60:655–664

    Article  PubMed  Google Scholar 

  3. Green M (1998) Chapter 48: Cyanosis. In: Green M (ed) Pediatric diagnosis. W.B. Saunders, Philadelphia, p 389–395

    Google Scholar 

  4. Connuck D, Sun JP, Super DM et al (2002) Incidence of patent ductus arteriosus and patent foramen ovale in normal infants. Am J Cardiol 89:244–247

    Article  PubMed  Google Scholar 

  5. Fisher DC, Fisher EA, Budd JH et al (1995) The incidence of patent foramen ovale in 1,000 consecutive patients. A contrast transesophageal echocardiography study. Chest 107:1504–1509

    Article  PubMed  Google Scholar 

  6. Schneider B, Zienkiewicz T, Jansen V et al (1996) Diagnosis of patent foramen ovale by transesophageal echocardiography and correlation with autopsy findings. Am J Cardiol 77:1202–1209

    Article  PubMed  Google Scholar 

  7. Koenig P, Hijazi Z, Zimmerman F (2004) Essential pediatric cardiology. McGraw-Hill Publishing, New York

    Google Scholar 

  8. John Sutton MG, Tajik AJ, McGoon DC (1981) Atrial septal defect in patients ages 60 years or older: operative results and long-term postoperative follow-up. Circulation 64:402–409

    Article  PubMed  Google Scholar 

  9. Butera G, Romagnoli E, Carminati M, Chessa M, Piazza L et al (2008) Treatment of isolated secundum atrial septal defects: impact of age and defect morphology in 1,013 consecutive patients. Am Heart J 156:706–712

    Article  PubMed  Google Scholar 

  10. Hoffman JI, Kaplan S, Liberthson RR (2004) Prevalence of congenital heart disease. Am Heart J 147:425–439

    Article  PubMed  Google Scholar 

  11. Gatzoulis MA, Hechter S, Webb GD, Williams WG (1999) Surgery for partial atrioventricular septal defect in the adult. Ann Thorac Surg 67:504–510

    Article  PubMed  Google Scholar 

  12. Bergin ML, Warnes CA, Tajik AJ, Danielson GK (1995) Partial atrioventricular canal defect: long-term follow-up after initial repair in patients > or = 40 years old. J Am Coll Cardiol 25:1189–1194

    Article  PubMed  Google Scholar 

  13. Mas MS, Bricker JT (1990) Clinical physiology of left-to-right shunts. In: Garson Jr A, Bricker JT, McNamara DG (eds) The science and practice of pediatric cardiology. Lea and Febiger, Philadelphia, p 999–1001

    Google Scholar 

  14. Keane JF, Plauth WH, Nadas AS (1977) Ventricular septal defect with aortic regurgitation. Circulation 56(1):172–177

    Google Scholar 

  15. Rhodes LA, Keane JF, Keane JP et al (1990) Long follow-up (to 43 years) of ventricular septal defect with audible aortic regurgitation. Am J Cardiol 66:340–345

    Article  PubMed  Google Scholar 

  16. Chessa M, Butera G, Negura D, Bussadori C, Giamberti A, Fesslova V, Carminati M (2009) Transcatheter closure of congenital ventricular septal defects in adult: mid-term results and complications. Int J Cardiol 133(1):70–73

    Article  PubMed  Google Scholar 

  17. Flyer DC (1992) Chapter 30. Tetralogy of Fallot. In: Flyer DC (ed) Nadas’ pediatric cardiology. Hanley & Belfus, Inc, New York, p 471–491

    Google Scholar 

  18. Farouk A, Zahka K, Siwik E, Erenberg F, Al-Khatib Y, Golden A, Karimi M, Uddin M, Hennein HA (2009) Individualized approach to the surgical treatment of tetralogy of Fallot with pulmonary atresia. Cardiol Young 19(1):76–85

    Article  PubMed  Google Scholar 

  19. Warnes CA, Williams RG, Bashore TM, Child JS, Connolly HM et al (2008) ACC/AHA 2008 guidelines for the management of adults with congenital heart disease: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (writing committee to develop guidelines on the management of adults with congenital heart disease). Circulation 118:e714–e833

    Article  PubMed  Google Scholar 

  20. Graham TP Jr, Cordell D, Atwood GF, Boucek RJ Jr, Boerth RC et al (1976) Right ventricular volume characteristics before and after palliative and reparative operation in tetralogy of Fallot. Circulation 54:417–423

    Article  PubMed  Google Scholar 

  21. Dave HH, Buechel ER, Dodge-Khatami A, Kadner A, Rousson V et al (2005) Early insertion of a pulmonary valve for chronic regurgitation helps restoration of ventricular dimensions. Ann Thorac Surg 80:1615–1620

    Article  PubMed  Google Scholar 

  22. Oosterhof T, van Straten A, Vliegen HW, Meijboom FJ, van Dijk AP et al (2007) Preoperative thresholds for pulmonary valve replacement in patients with corrected tetralogy of Fallot using cardiovascular magnetic resonance. Circulation 116:545–551

    Article  PubMed  Google Scholar 

  23. Stulak JM, Dearani JA, Burkhart HM, Park SJ, Suri RM, Schaff HV (2012) The surgical treatment of concomitant atrial arrhythmias during redo cardiac operations. Ann Thorac Surg 94(6):1894–1899

    Article  PubMed  Google Scholar 

  24. Niwa K, Siu SC, Webb GD, Gatzoulis MA (2002) Progressive aortic root dilatation in adults late after repair of tetralogy of Fallot. Circulation 106:1374–1378

    Article  PubMed  Google Scholar 

  25. Rieker RP, Berman MA, Stansel HC Jr (1975) Postoperative studies in patients with tetralogy of Fallot. Ann Thorac Surg 19:17–26

    Article  PubMed  Google Scholar 

  26. Khairy P, Aboulhosn J, Gurvitz MZ, Opotowsky AR, Mongeon FP, Kay J, Valente AM, Earing MG, Lui G, Gersony DR, Cook S, Ting JG, Nickolaus MJ, Webb G, Landzberg MJ, Broberg CS (2010) Alliance for Adult Research in Congenital Cardiology (AARCC). Arrhythmia burden in adults with surgically repaired tetralogy of Fallot: a multiinstitutional study. Circulation 122(9):868–875

    Article  PubMed  Google Scholar 

  27. Alexander ME, Cecchin F, Walsh EP, Triedman JK, Bevilacqua LM et al (2004) Implications of implantable cardioverter defibrillator therapy in congenital heart disease and pediatrics. J Cardiovasc Electrophysiol 15:72–76

    Article  PubMed  Google Scholar 

  28. Nollert G, Fischlein T, Bouterwek S, Bohmer C, Klinner W et al (1997) Long-term survival in patients with repair of tetralogy of Fallot: 36-year follow-up of 490 survivors of the first year after surgical repair. J Am Coll Cardiol 30:1374–1383

    Article  PubMed  Google Scholar 

  29. Hoffman JIE, Christianson R (1978) Congenital heart disease in a cohort of 19,502 births with long-term follow-up. Ann J Cardiol 42:461

    Article  Google Scholar 

  30. Gelatt M, Hamilton RM, McCrindle BW, Connelly M, Davis A et al (1997) Arrhythmia and mortality after the mustard procedure: a 30-year single-center experience. J Am Coll Cardiol 29:194–201

    Article  PubMed  Google Scholar 

  31. Brown JW, Ruzmetov M, Huynh D, Rodefeld MD, Turrentine MW et al (2011) Rastelli operation for transposition of the great arteries with ventricular septal defect and pulmonary stenosis. Ann Thorac Surg 91:188–193

    Article  PubMed  Google Scholar 

  32. Prifti E, Crucean A, Bonacchi M, Bernabei M, Murzi B et al (2002) Early and long term outcome of the arterial switch operation for transposition of the great arteries: predictors and functional evaluation. Eur J Cardiothorac Surg 22:864–873

    Article  PubMed  Google Scholar 

  33. Mayer JE Jr, Sanders SP, Jonas RA, Castaneda AR, Wernovsky G (1990) Coronary artery pattern and outcome of arterial switch operation for transposition of the great arteries. Circulation 82:IV139–IV145

    PubMed  Google Scholar 

  34. Lopes R, Lourenco P, Goncalves A, Cruz C, Maciel MJ (2011) The natural history of congenital subaortic stenosis. Congenit Heart Dis 6(5):417–423

    Article  PubMed  Google Scholar 

  35. Geva A, McMahon CJ, Gauvreau K, Mohammed L, del Nido PJ, Geva T (2007) Risk factors for reoperation after repair of discrete subaortic stenosis in children. J Am Coll Cardiol 50(15):1498–1504

    Article  PubMed  Google Scholar 

  36. Brom AG (1965) Narrowing of the aortic isthmus and enlargement of the mind. J Thorac Cardiovasc Surg 50:166

    PubMed  Google Scholar 

  37. Duffie ER Jr, Wilson JF et al (1968) Coarctation of the aorta. In: Moss AJ, Adams FH (eds) Heart disease in infants, children, and adolescents. The Williams and Wilkins Company, Baltimore, p 386

    Google Scholar 

  38. Reddy M, McElhinney DB, Silverman NH et al (1998) Partial biventricular repair for complex congenital heart defects: an intermediate option for complicated anatomy or functionally borderline right complex heart. J Thorac Cardiovasc Surg 116:21–27

    Article  PubMed  Google Scholar 

  39. Tanous D, Benson LN, Horlick EM (2009) Coarctation of the aorta: evaluation and management. Curr Opin Cardiol 24:509–515

    Article  PubMed  Google Scholar 

  40. Vriend JW, Mulder BJ (2005) Late complications in patients after repair of aortic coarctation: implications for management. Int J Cardiol 101:399–406

    Article  PubMed  Google Scholar 

  41. Krieger EV, Stout K (2010) The adult with repaired coarctation of the aorta. Heart 96:1676–1681

    Article  PubMed  Google Scholar 

  42. Musto C, Cifarelli A, Pucci E, Paladini S, De Felice F et al (2008) Endovascular treatment of aortic coarctation: long-term effects on hypertension. Int J Cardio 130:420–425

    Article  Google Scholar 

  43. Lev M, Liberthson RR, Joseph RH, Seten CE, Eckner FA et al (1970) The pathologic anatomy of Ebstein’s disease. Arch Pathol 90:334–343

    PubMed  Google Scholar 

  44. Attenhofer Jost CH, Connolly HM, Dearani JA, Edwards WD, Danielson GK (2007) Ebstein’s anomaly. Circulation 115:277–285

    Article  PubMed  Google Scholar 

  45. Schreiber C, Cook A, Ho SY, Augustin N, Anderson RH (1999) Morphologic spectrum of Ebstein’s malformation: revisitation relative to surgical repair. J Thorac Cardiovasc Surg 117:148–155

    Article  PubMed  Google Scholar 

  46. Dearani JA, Danielson GK (2000) Congenital heart surgery nomenclature and database project: Ebstein’s anomaly and tricuspid valve disease. Ann Thorac Surg 69:S106–S117

    Article  PubMed  Google Scholar 

  47. Attenhofer Jost CH, Connolly HM, Edwards WD, Hayes D, Warnes CA et al (2005) Ebstein’s anomaly – review of a multifaceted congenital cardiac condition. Swiss Med Wkly 135:269–281

    PubMed  Google Scholar 

  48. Chetaille P, Walsh EP, Triedman JK (2004) Outcomes of radiofrequency catheter ablation of atrioventricular reciprocating tachycardia in patients with congenital heart disease. Heart Rhythm 1:168–173

    Article  PubMed  Google Scholar 

  49. Celermajer DS, Bull C, Till JA, Cullen S, Vassillikos VP et al (1994) Ebstein’s anomaly: presentation and outcome from fetus to adult. J Am Coll Cardiol 23:170–176

    Article  PubMed  Google Scholar 

  50. Kumar AE, Fyler DC, Miettinen OS, Nadas AS (1971) Ebstein’s anomaly. Clinical profile and natural history. Am J Cardiol 28:84–95

    Article  PubMed  Google Scholar 

  51. Attie F, Rosas M, Rijlaarsdam M, Buendia A, Zabal C et al (2000) The adult patient with Ebstein anomaly. Outcome in 72 unoperated patients. Med (Baltimore) 79:27–36

    Article  Google Scholar 

  52. World J (2013) Functionally univentricular heart and the fontan operation: lessons learned about patterns of practice and outcomes from the congenital heart surgery databases of the European association for cardio-thoracic surgery and the society of thoracic surgeons. Pediatr Congenit Heart Dis 4(4):349–355

    Article  Google Scholar 

  53. Brown ML, Dearani JA, Danielson GK, Cetta F, Connolly HM et al (2008) The outcomes of operations for 539 patients with Ebstein anomaly. J Thorac Cardiovasc Surg 135(1120–1136):1136

    Google Scholar 

  54. Brown ML, Dearani JA, Danielson GK, Cetta F, Connolly HM et al (2008) Functional status after operation for Ebstein anomaly: the Mayo Clinic experience. J Am Coll Cardiol 52:460–466

    Article  PubMed  Google Scholar 

  55. Rees P, Tunstill A, Pope T, Kinnear D (2002) Heart children: a practical handbook for parents. HeartLine Association, Camberley

    Google Scholar 

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Acknowledgment

The figures were first published in Heart Children: a practical handbook for parents [55] and are published here with the permission of Heartline Families, which holds intellectual property rights.

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Authors and Affiliations

  1. Pediatric and Adult Congenital Heart Disease Centre, IRCCS Policlinico San Donato University Hospital, Via Morandi 30, Milan, Italy

    Massimo Chessa & Francesca Romana Plucchinotta

Authors
  1. Massimo Chessa
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  2. Francesca Romana Plucchinotta
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Correspondence to Massimo Chessa .

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Editors and Affiliations

  1. Pediatric and Adult Congenital Heart Disease Centre, IRCCS Policlinico San Donato, San Donato Milanese, Milan, Italy

    Edward Callus

  2. Pediatric and Adult Congenital Heart Disease Center, IRCCS Policlinico San Donato, San Donato Milanese, Milan, Italy

    Emilia Quadri

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Chessa, M., Plucchinotta, F.R. (2015). Congenital Heart Disease: A Medical Overview. In: Callus, E., Quadri, E. (eds) Clinical Psychology and Congenital Heart Disease. Springer, Milano. https://doi.org/10.1007/978-88-470-5699-2_1

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