The DOI matches its Crossref record.
Genetic Disorders and Major Extracardiac Anomalies Associated With the Hypoplastic Left Heart Syndrome
Abstract
All pediatric autopsies of patients with hypoplastic left heart syndrome seen during an 11-year interval were reviewed to determine the frequency of underlying chromosomal and single-gene defects and idiopathic major extracardiac anomalies associated with this common, lethal congenital heart abnormality. Of 83 patients identified, nine had underlying chromosomal abnormalities, four had single-gene defects, ten had one or more major extracardiac anomalies without an identifiable chromosomal or mendelian disorder, and two were infants of insulin-dependent diabetic mothers. Overall, 23 patients (28%) had a genetic disorder and/or major extracardiac anomaly. The substantial prevalence of genetic causes of and major extracardiac anomalies associated with hypoplastic left heart syndrome underscores the need for a detailed genetic evaluation for all patients with hypoplastic left heart syndrome.
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Citations
Cited by
Shillingford, A. J., Glanzman, M. M., Ittenbach, R. F., Clancy, R. R., Gaynor, J. W., & Wernovsky, G. (2008) · Pediatrics · doi:10.1542/peds.2007-1066 · Cited by 348
Self-citationMechanical regulation of cardiac development
Lindsey, S. E. (2014) · Frontiers in Physiology · doi:10.3389/fphys.2014.00318 · Cited by 159
Aortic morphometry and microcephaly in hypoplastic left heart syndrome
Shillingford, A. J., Ittenbach, R. F., Marino, B. S., Rychik, J., Clancy, R. R., Spray, T. L., Gaynor, J. W., & Wernovsky, G. (2007) · Cardiology in the Young · doi:10.1017/s1047951107000248 · Cited by 129
Self-citationPrenatal Head Growth and White Matter Injury in Hypoplastic Left Heart Syndrome
Hinton, R. B., Andelfinger, G., Sekar, P., Hinton, A. C., Gendron, R. L., Michelfelder, E. C., Robitaille, Y., & Benson, D. W. (2008) · Pediatric Research · doi:10.1203/pdr.0b013e3181827bf4 · Cited by 118
Metadata
- Authors
- Natowicz, M., Chatten, J., Clancy, R., Conard, K., Glauser, T., Huff, D., Lin, A., Norwood, W., Rorke, L. B., Uri, A., Weinberg, P., Zackai, E., & Kelley, R. I.
- Venue
- Pediatrics
- Publisher
- American Academy of Pediatrics (AAP)
- Published
- 1988-11-01
- Volume
- 82
- Issue
- 5
- Pages
- 698-706
- ISSN
- 0031-4005 (ISSN-L)
- 1098-4275
- OpenAlex
- W1537101177
- Cited by
- 186
- References
- 0
- FWCI
- 3.13
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: Genetic Disorders and Major Extracardiac Anomalies Associated With the Hypoplastic Left Heart Syndrome. https://app.cochat.ai/papers/10.1542/peds.82.5.698
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- Natowicz, M., Chatten, J., Clancy, R., Conard, K., Glauser, T., Huff, D., Lin, A., Norwood, W., Rorke, L. B., Uri, A., Weinberg, P., Zackai, E., & Kelley, R. I. (1988). Genetic Disorders and Major Extracardiac Anomalies Associated With the Hypoplastic Left Heart Syndrome. Pediatrics. https://doi.org/10.1542/peds.82.5.698
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