Indian Pediatrics

, Volume 51, Issue 5, pp 389–391

Extracardiac birth defects in children with congenital heart defects

  • Sunil Karande
  • Varsha Patil
  • Archana Kher
  • Mamta Muranjan
Research Brief



To assess the proportion and pattern of extracardiac birth defects in children with congenital heart defects referred to a tertiary care institute.


Cross-sectional observational study from January 2010 to June 2011.


Out of 560 children with congenital heart defects, 98 (17.5%) had extracardiac birth defects. Fifty-six had multiple congenital defects; 36 were syndromic cases and 6 had laterality defects. A total of 386 extracardiac birth defects (103 major and 283 minor) were documented, with craniofacial and skeletal birth defects being the commonest.


Extracardiac birth defects are common in children with congenital heart defects.


Congenital heart disease Craniofacial abnormalities Syndrome 


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  1. 1.
    National Birth Defects Prevention Network. Guidelines for Conducting Birth Defects Surveillance. Atlanta, GA: National Birth Defects Prevention Network, Inc; 2004.Google Scholar
  2. 2.
    Reller MD, Strickland MJ, Riehle-Colarusso T, Mahle WT, Correa A. Prevalence of congenital heart defects in metropolitan Atlanta, 1998–2005. J Pediatr. 2008;153:807–813.PubMedCentralPubMedCrossRefGoogle Scholar
  3. 3.
    Copeland GE, Kirby RS. Using birth defects registry data to evaluate infant and childhood mortality associated with birth defects: an alternative to traditional mortality assessment using underlying cause of death statistics. Birth Defects Res A Clin Mol Teratol. 2007;79:792–797.PubMedCrossRefGoogle Scholar
  4. 4.
    Kramer HH, Majewski F, Trampisch HJ, Rammos S, Bourgeois M. Malformation patterns in children with congenital heart disease. Am J Dis Child. 1987;141:789–795.PubMedGoogle Scholar
  5. 5.
    Hoffman JI, Christianson R. Congenital heart disease in a cohort of 19,502 births with long-term follow-up. Am J Cardiol. 1978;42:641–647.PubMedCrossRefGoogle Scholar
  6. 6.
    Rasmussen SA, Olney RS, Holmes LB, Lin AE, Keppler-Noreuil KM, Moore CA. Guidelines for Case Classification for the National Birth Defects Prevention Study. Birth Defects Res A Clin Mol Teratol. 2003;67:193–201.PubMedCrossRefGoogle Scholar
  7. 7.
    Allanson JE, Cunniff C, Hoyme HE, McGaughran J, Muenke M, Neri G. Elements of morphology: standard terminology for the head and face. Am J Med Genet. 2009;149A:6–28.PubMedCentralPubMedCrossRefGoogle Scholar
  8. 8.
    Hall BD, Graham JM Jr, Cassidy SB, Opitz JM. Elements of morphology: standard terminology for the periorbital region. Am J Med Genet. 2009;149A:29–39.PubMedCrossRefGoogle Scholar
  9. 9.
    Hunter A, Frias JL, Gillessen-Kaesbach G, Hughes H, Jones KL, Wilson L. Elements of morphology: standard terminology for the ear. Am J Med Genet. 2009;149A:40–60.PubMedCrossRefGoogle Scholar
  10. 10.
    Carey JC, Cohen MM Jr, Curry CJ, Devriendt K, Holmes LB, Verloes A. Elements of morphology: standard terminology for the lips, mouth, and oral region. Am J Med Genet A. 2009;149A:77–92.PubMedCrossRefGoogle Scholar
  11. 11.
    Biesecker LG, Aase JM, Clericuzio C, Gurrieri F, Temple IK, Toriello H. Elements of morphology: standard terminology for the hands and feet. Am J Med Genet A. 2009;149A:93–127.PubMedCentralPubMedCrossRefGoogle Scholar
  12. 12.
    Jones KL. Smith’s Recognizable Patterns of Human Malformation, 6th ed. Philadelphia, PA: Elsevier Saunders; 2006.Google Scholar
  13. 13.
    Miller A, Riehle-Colarusso T, Alverson CJ, Frías JL, Correa A. Congenital heart defects and major structural noncardiac anomalies, Atlanta, Georgia, 1968 to 2005. J Pediatr. 2011;159:70–78.PubMedCrossRefGoogle Scholar
  14. 14.
    Tennstedt C, Chaoui R, Korner H, Dietel M. Spectrum of congenital heart defects and extracardiac malformations associated with chromosomal abnormalities: Results of a seven year necropsy study. Heart. 1999;82:34–39.PubMedCentralPubMedGoogle Scholar
  15. 15.
    Gucer S, Ince T, Kale G, Akcoren Z, Ozkutlu S, Talim B, et al. Noncardiac malformations in congenital heart disease: a retrospective analysis of 305 pediatric autopsies. Turk J Pediatr. 2005;47:159–166.PubMedGoogle Scholar

Copyright information

© Indian Academy of Pediatrics 2014

Authors and Affiliations

  • Sunil Karande
    • 1
  • Varsha Patil
    • 1
  • Archana Kher
    • 1
  • Mamta Muranjan
    • 1
  1. 1.Department of PediatricsSeth GS Medical College and KEM HospitalParelIndia

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