Hostname: page-component-cd9895bd7-gbm5v Total loading time: 0 Render date: 2024-12-23T16:23:21.019Z Has data issue: false hasContentIssue false
  • English
  • Français

Tetralogy of Fallot: epidemiology meets real-world management: lessons from the Baltimore-Washington Infant Study*

Published online by Cambridge University Press:  09 January 2014

Melanie Nies  and
Joel I. Brenner
Melanie Nies*
Affiliation:
Division of Pediatric Cardiology, Johns Hopkins Hospital, United States of America
Joel I. Brenner
Affiliation:
Taussig Heart Center, Division of Pediatric Cardiology, Johns Hopkins Hospital, United States of America
*
Correspondence to: Dr. Melanie Nies, Johns Hopkins Bloomberg Children's Center, Taussig Heart Center, 1800 Orleans St, Rm 2328, Baltimore MD 21287. E-mail: [email protected]
Get access Rights & Permissions [Opens in a new window]

Abstract

Decades ago, mass-scale epidemiologic studies were undertaken to accurately describe the prevalence of congenital heart disease and associated malformations, and to identify inheritance patterns, teratogenic influence and aetiologic underpinnings. Despite phenomenal breakthroughs in molecular diagnosis of congenital heart disease, original population-based studies for detailed knowledge of prevalence, associated malformations, and appropriate patient and family counselling remain invaluable to the armamentarium and knowledge base of paediatric cardiologists. No modern-era studies have supplanted the importance of the Baltimore-Washington Infant Study undertaken from 1981 to 1989. In this article, we reprise the findings of the Baltimore-Washington Infant Study in tetralogy of Fallot, as well as to review current molecular diagnosis.

Keywords

Pediatric cardiologycongenital heart diseaseBaltimore-Washington Infant Study (BWIS)epidemiologytetralogy of Fallot
Type
Original Article
Information
Cardiology in the Young , Volume 23 , Issue 6: HeartWeek 2013 , December 2013 , pp. 867 - 870
Copyright
Copyright © Cambridge University Press 2013 

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

Footnotes

*

Presented at “The Birth of Heart Surgery: Lessons Learned from Tetralogy – Past, Present and Future” Dinner Symposium Sponsored by Johns Hopkins Medicine and All Children's Hospital, Thursday, February 21, 2013, at The Sixth World Congress of Paediatric Cardiology and Cardiac Surgery, Cape Town International Convention Centre, Cape Town, South Africa, February 17–22, 2013. A video of this presentation can be viewed at the following hyperlink: [http://www.allkids.org/wcpccs].

References

1.Nora, JJ, Nora, AH. Genetic and environmental factors in the etiology of congenital heart diseases. South Med J 1976; 69: 919–926.Google Scholar
2.Ferencz, C, Rubin, JD, McCarter, RJ, et al. Congenital heart disease: prevalence at livebirth. The Baltimore-Washington Infant Study. Am J Epidemiol 1985; 121: 31–36.CrossRefGoogle ScholarPubMed
3.Loffredo, CA, Wilson, PD, Ferencz, C. Maternal diabetes: an independent risk factor for major cardiovascular malformations with increased mortality of affected infants. Teratology 2001; 64: 98–106.CrossRefGoogle ScholarPubMed
4.Loffredo, CA. Epidemiology of cardiovascular malformations: prevalence and risk factors. Am J Med Genet 2000; 97: 319–325.3.0.CO;2-E>CrossRefGoogle ScholarPubMed
5.Rubin, JD, Ferencz, C, Brenner, JI, Neill, CA, Perry, LW. Early detection of congenital cardiovascular malformations in infancy. Am J Dis Child 1987; 141: 1218–1220.Google ScholarPubMed
6.Lurie, IW, Kappetein, AP, Loffredo, CA, Ferencz, C. Non-cardiac malformations in individuals with outflow tract defects of the heart: the Baltimore-Washington Infant Study (1981–1989). Am J Med Genet 1995; 59: 76–84.Google Scholar
7.Ransom, J, Srivastava, D. The genetics of cardiac birth defects. Semin Cell Dev Biol 2007; 18: 132–139.Google Scholar
8.Goldmuntz, E, Bamford, R, Karkera, JD, dela Cruz, J, Roessler, E, Muenke, M. CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle. Am J Hum Genet 2002; 70: 776–780.Google Scholar
9.Goldmuntz, E, Clark, BJ, Mitchell, LE, et al. Frequency of 22q11 deletions in patients with conotruncal defects. J Am Coll Cardiol 1998; 32: 492–498.Google Scholar
10.Goldmuntz, E, Driscoll, DA, Emanuel, BS, et al. Evaluation of potential modifiers of the cardiac phenotype in the 22q11.2 deletion syndrome. Birth Defects Res A Clin Mol Teratol 2009; 85: 125–129.Google Scholar
11.Huang, JB, Liu, YL, Sun, PW, Lv, XD, Du, M, Fan, XM. Molecular mechanisms of congenital heart disease. Cardiovasc Pathol 2010; 19: e183–e193.Google ScholarPubMed
12.Lammer, EJ, Chak, JS, Iovannisci, DM, et al. Chromosomal abnormalities among children born with conotruncal cardiac defects. Birth Defects Res A Clin Mol Teratol 2009; 85: 30–35.CrossRefGoogle ScholarPubMed
13.Megarbane, A, Salem, N, Stephan, E, et al. X-linked transposition of the great arteries and incomplete penetrance among males with a nonsense mutation in ZIC3. Eur J Hum Genet 2000; 8: 704–708.Google Scholar
14.Melchionda, S, Digilio, MC, Mingarelli, R, et al. Transposition of the great arteries associated with deletion of chromosome 22q11. Am J Cardiol 1995; 75: 95–98.Google Scholar
15.McElhinney, DB, Driscoll, DA, Emanuel, BS, Goldmuntz, E. Chromosome 22q11 deletion in patients with truncus arteriosus. Pediatr Cardiol 2003; 24: 569–573.Google Scholar