PEDIATRICS Vol. 82 No. 5 November 1988, pp. 698-706
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Genetic Disorders and Major Extracardiac Anomalies Associated With the Hypoplastic Left Heart Syndrome

Marvin Natowicz MD, PhD1, Jane Chatten MD1, Robert Clancy MD1, Katrina Conard MD1, Tracy Glauser MD1, Dale Huff MD1, Angela Lin MD1, William Norwood MD1, Lucy B. Rorke MD1, Antonia Uri MD1, Paul Weinberg MD1, Elaine Zackai MD1, and Richard I. Kelley MD, PhD1

1 From the Divisions of Genetics, Pathology, Neurology, Metabolism, Cardiology, and Surgery, The Children's Hospital of Philadelphia, and the Department of Pathology and Laboratory Medicine, The Hospital of the University of Pennsylvania, Philadelphia

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.

Key Words: congenital heart disease • hypoplastic left heart syndrome • genetics

Accepted on January 4, 1988




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