Genetic disorders and major extracardiac anomalies associated with the hypoplastic left heart syndrome

M. Natowicz, J. Chatten, R. Clancy, K. Conard, T. Glauser, D. Huff, A. Lin, W. Norwood, L. B. Rorke, A. Uri, P. Weinberg, E. Zackai, R. I. Kelley

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish (US)
Pages (from-to)698-706
Number of pages9
JournalPediatrics
Volume82
Issue number5
StatePublished - 1988

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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