UpToDate
Official reprint from UpToDate®
www.uptodate.com ©2016 UpToDate®

Classification of atrial septal defects (ASDs), and clinical features and diagnosis of isolated ASDs in children

Authors
G Wesley Vick, III, MD
Louis I Bezold, MD
Section Editor
John K Triedman, MD
Deputy Editor
Carrie Armsby, MD, MPH

INTRODUCTION

Atrial septal defects (ASDs) are common, accounting for approximately 13 percent of congenital heart disorders. The clinical consequences of an ASD are related to the anatomic location of the defect, its size, and the presence or absence of other cardiac anomalies.

The classification of ASDs, and the clinical features and diagnosis of isolated ASDs in children will be reviewed here. The management and prognosis of children with isolated ASDs are discussed separately. (See "Management and outcome of isolated atrial septal defects in children".)

EPIDEMIOLOGY

Congenital defects of the atrial septum are common, accounting for approximately 13 percent of congenital heart disorders, with a reported birth prevalence of approximately 2 per 1000 live births [1-4].

EMBRYOLOGY

Normal development — The septation of the atria begins as early as the fifth week of gestation and involves three structures: septum primum, septum secundum, and the atrioventricular (AV) canal septum, which is made up in part by the superior and inferior endocardial cushion.

The septum primum arises from the superior portion of the common atrium and grows caudally towards the AV canal septum (eg, the endocardial cushions) located between the atria and ventricles. The fusion between the septum primum and the endocardial cushions closes the orifice (ostium primum) separating the right and left atria (figure 1).

                                     

Subscribers log in here

To continue reading this article, you must log in with your personal, hospital, or group practice subscription. For more information or to purchase a personal subscription, click below on the option that best describes you:
Literature review current through: Nov 2016. | This topic last updated: Thu Oct 08 00:00:00 GMT+00:00 2015.
The content on the UpToDate website is not intended nor recommended as a substitute for medical advice, diagnosis, or treatment. Always seek the advice of your own physician or other qualified health care professional regarding any medical questions or conditions. The use of this website is governed by the UpToDate Terms of Use ©2016 UpToDate, Inc.
References
Top
  1. van der Linde D, Konings EE, Slager MA, et al. Birth prevalence of congenital heart disease worldwide: a systematic review and meta-analysis. J Am Coll Cardiol 2011; 58:2241.
  2. Schwedler G, Lindinger A, Lange PE, et al. Frequency and spectrum of congenital heart defects among live births in Germany : a study of the Competence Network for Congenital Heart Defects. Clin Res Cardiol 2011; 100:1111.
  3. Reller MD, Strickland MJ, Riehle-Colarusso T, et al. Prevalence of congenital heart defects in metropolitan Atlanta, 1998-2005. J Pediatr 2008; 153:807.
  4. Wu MH, Chen HC, Lu CW, et al. Prevalence of congenital heart disease at live birth in Taiwan. J Pediatr 2010; 156:782.
  5. Riggs T, Sharp SE, Batton D, et al. Spontaneous closure of atrial septal defects in premature vs. full-term neonates. Pediatr Cardiol 2000; 21:129.
  6. Helgason H, Jonsdottir G. Spontaneous closure of atrial septal defects. Pediatr Cardiol 1999; 20:195.
  7. Brassard M, Fouron JC, van Doesburg NH, et al. Outcome of children with atrial septal defect considered too small for surgical closure. Am J Cardiol 1999; 83:1552.
  8. McMahon CJ, Feltes TF, Fraley JK, et al. Natural history of growth of secundum atrial septal defects and implications for transcatheter closure. Heart 2002; 87:256.
  9. Caputo S, Capozzi G, Russo MG, et al. Familial recurrence of congenital heart disease in patients with ostium secundum atrial septal defect. Eur Heart J 2005; 26:2179.
  10. Gelernter-Yaniv L, Lorber A. The familial form of atrial septal defect. Acta Paediatr 2007; 96:726.
  11. Hoffman JI, Kaplan S. The incidence of congenital heart disease. J Am Coll Cardiol 2002; 39:1890.
  12. Suchoń E, Podolec P, Płazak W, et al. Mitral valve prolapse associated with ostium secundum atrial septal defect--a functional disorder. Acta Cardiol 2004; 59:237.
  13. Joy J, Kartha CC, Balakrishnan KG. Structural basis for mitral valve dysfunction associated with ostium secundum atrial septal defects. Cardiology 1993; 82:409.
  14. Vaughan CJ, Basson CT. Molecular determinants of atrial and ventricular septal defects and patent ductus arteriosus. Am J Med Genet 2000; 97:304.
  15. Basson CT, Cowley GS, Solomon SD, et al. The clinical and genetic spectrum of the Holt-Oram syndrome (heart-hand syndrome). N Engl J Med 1994; 330:885.
  16. Newbury-Ecob RA, Leanage R, Raeburn JA, Young ID. Holt-Oram syndrome: a clinical genetic study. J Med Genet 1996; 33:300.
  17. Basson CT, Bachinsky DR, Lin RC, et al. Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome. Nat Genet 1997; 15:30.
  18. Garg V, Kathiriya IS, Barnes R, et al. GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. Nature 2003; 424:443.
  19. Zeisberg EM, Ma Q, Juraszek AL, et al. Morphogenesis of the right ventricle requires myocardial expression of Gata4. J Clin Invest 2005; 115:1522.
  20. Terrett JA, Newbury-Ecob R, Cross GS, et al. Holt-Oram syndrome is a genetically heterogeneous disease with one locus mapping to human chromosome 12q. Nat Genet 1994; 6:401.
  21. Ching YH, Ghosh TK, Cross SJ, et al. Mutation in myosin heavy chain 6 causes atrial septal defect. Nat Genet 2005; 37:423.
  22. Schott JJ, Benson DW, Basson CT, et al. Congenital heart disease caused by mutations in the transcription factor NKX2-5. Science 1998; 281:108.
  23. Liu XY, Wang J, Yang YQ, et al. Novel NKX2-5 mutations in patients with familial atrial septal defects. Pediatr Cardiol 2011; 32:193.
  24. Benson DW, Sharkey A, Fatkin D, et al. Reduced penetrance, variable expressivity, and genetic heterogeneity of familial atrial septal defects. Circulation 1998; 97:2043.
  25. al Zaghal AM, Li J, Anderson RH, et al. Anatomical criteria for the diagnosis of sinus venosus defects. Heart 1997; 78:298.
  26. Van Praagh S, Geva T, Lock JE, et al. Biatrial or left atrial drainage of the right superior vena cava: anatomic, morphogenetic, and surgical considerations--report of three new cases and literature review. Pediatr Cardiol 2003; 24:350.
  27. Hagen PT, Scholz DG, Edwards WD. Incidence and size of patent foramen ovale during the first 10 decades of life: an autopsy study of 965 normal hearts. Mayo Clin Proc 1984; 59:17.
  28. Radzik D, Davignon A, van Doesburg N, et al. Predictive factors for spontaneous closure of atrial septal defects diagnosed in the first 3 months of life. J Am Coll Cardiol 1993; 22:851.
  29. Hanslik A, Pospisil U, Salzer-Muhar U, et al. Predictors of spontaneous closure of isolated secundum atrial septal defect in children: a longitudinal study. Pediatrics 2006; 118:1560.
  30. Granton JT, Rabinovitch M. Pulmonary arterial hypertension in congenital heart disease. Cardiol Clin 2002; 20:441.
  31. Goetschmann S, Dibernardo S, Steinmann H, et al. Frequency of severe pulmonary hypertension complicating "isolated" atrial septal defect in infancy. Am J Cardiol 2008; 102:340.
  32. Rostad H, Sörland S. Atrial septal defect of secundum type in patients under 40 years of age. A review of 481 operated cases. Symptoms, signs, treatment and early results. Scand J Thorac Cardiovasc Surg 1979; 13:123.
  33. Andrews R, Tulloh R, Magee A, Anderson D. Atrial septal defect with failure to thrive in infancy: hidden pulmonary vascular disease? Pediatr Cardiol 2002; 23:528.
  34. Mainwaring RD, Mirali-Akbar H, Lamberti JJ, Moore JW. Secundum-type atrial septal defects with failure to thrive in the first year of life. J Card Surg 1996; 11:116.
  35. Muta H, Akagi T, Egami K, et al. Incidence and clinical features of asymptomatic atrial septal defect in school children diagnosed by heart disease screening. Circ J 2003; 67:112.
  36. Ruschhaupt DG, Khoury L, Thilenius OG, et al. Electrophysiologic abnormalities of children with ostium secundum atrial septal defect. Am J Cardiol 1984; 53:1643.
  37. Bink-Boelkens MT, Bergstra A, Landsman ML. Functional abnormalities of the conduction system in children with an atrial septal defect. Int J Cardiol 1988; 20:263.
  38. Davia JE, Cheitlin MD, Bedynek JL. Sinus venosus atrial septal defect: analysis of fifty cases. Am Heart J 1973; 85:177.
  39. Shiku DJ, Stijns M, Lintermans JP, Vliers A. Influence of age on atrioventricular conduction intervals in children with and without atrial septal defect. J Electrocardiol 1982; 15:9.
  40. Schiller O, Greene EA, Moak JP, et al. The poor performance of RSR' pattern on electrocardiogram lead V1 for detection of secundum atrial septal defects in children. J Pediatr 2013; 162:308.
  41. Cohen JS, Patton DJ, Giuffre RM. The crochetage pattern in electrocardiograms of pediatric atrial septal defect patients. Can J Cardiol 2000; 16:1241.
  42. Ayres NA, Miller-Hance W, Fyfe DA, et al. Indications and guidelines for performance of transesophageal echocardiography in the patient with pediatric acquired or congenital heart disease: report from the task force of the Pediatric Council of the American Society of Echocardiography. J Am Soc Echocardiogr 2005; 18:91.
  43. Beerbaum P, Körperich H, Barth P, et al. Noninvasive quantification of left-to-right shunt in pediatric patients: phase-contrast cine magnetic resonance imaging compared with invasive oximetry. Circulation 2001; 103:2476.