Skip to main content Accessibility help
×
Home

Hypoplastic left heart syndrome and other left heart disease: evolution of understanding from population-based analysis to molecular biology and back again – a brief overview

  • Joel I. Brenner (a1) and Karen Kuehl (a2)

Abstract

Congenital cardiac disease is the most common birth defect, occurring in approximately 1 in 1000 live births. Congenital cardiac defects have associations, whether with gender, race, or specific chromosomal abnormalities, potentially allowing grouping of defects to be studied in an effort to develop an understanding of aetiological factors. The Baltimore-Washington Infant Study provides full ascertainment of a population of infants with congenital cardiac disease born in a defined geographic region. The fundamental hypotheses generated at the inception of the Baltimore-Washington Infant Study included the central idea that the outcome of birth, including the development of congenital cardiac malformations, was influenced by environmental factors and their route of introduction into a genetically susceptible host. Evidence exists that supports the concept that both genetic and environmental factors contribute to the development of diseases of the left heart.

Copyright

Corresponding author

Correspondence to: Dr Joel I. Brenner, MD, Helen B. Taussig Congenital Heart Center at the Johns Hopkins Hospital and Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America. Tel: +1 410 614 6746; Fax: +1 410 955 0897; E-mail: jbrenne@jhmi.edu

References

Hide All
1.Ferencz, C, Rubin, JD, Loffredo, CA, Magee, CA. Epidemiology of Congenital Heart Disease: The Baltimore-Washington Infant Study, 1981–1989. Futura Publishing Company, Mt. Kisco, NY, 1993.
2.Ferencz, C, Loffredo, CA, Correa-Villasenor, A, Wilson, PD. Genetic and Environmental Risk Factors of Major Cardiovascular Malformations: The Baltimore-Washington Infant Study, 1981–1989. Futura Publishing Company, Mt. Kisco, NY, 1997.
3.Brenner, JI, Berg, KA, Schneider, DS, et al. Cardiovascular malformations in relatives of infants with hypoplastic left heart syndrome. Am J Dis Child 1989; 143: 14921494.
4.Wollins, DS, Ferencz, C, Boughman, JA, Loffredo, CA. A population-based study of coarctation of the aorta: comparison of infants with and without associated ventricular septal defect. Teratology 2001; 64: 229236.
5.Loffredo, CA, Chokkalingam, A, Sill, AM, et al. Prevalence of congenital cardiovascular malformations among relatives of infants with hypoplastic left heart, coarctation of the aorta, and d-transposition of the great arteries. Am J Med Genet 2004; 124A: 225230.
6.Garg, V, Muth, AN, Ransom, JF, et al. Mutations in NOTCH1 cause aortic valve disease. Nature 2005; 487: 270274.
7.McBride, KL, Sender, SM, Fitzgerald-Butt, SM, et al. Linkage analysis of left ventricular outflow tract malformations. Eur J Hum Genet 2009; 17: 811819.
8.Hinton, RB, Martin, LJ, Rame-Gownda, S, et al. Hypoplastic left heart syndrome links to chromosome 10q and 6q and is genetically related to bicuspid aortic valve. J Am Coll Cardiol 2009; 53: 10651071.
9.Loffredo, CA, Kuehl, KS. A cluster of hypoplastic left heart malformations in Baltimore, Maryland. Pediatr Cardiol 2006; 27: 2531.

Keywords

Metrics

Altmetric attention score

Full text views

Total number of HTML views: 0
Total number of PDF views: 0 *
Loading metrics...

Abstract views

Total abstract views: 0 *
Loading metrics...

* Views captured on Cambridge Core between <date>. This data will be updated every 24 hours.

Usage data cannot currently be displayed