title: 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.
authors.affiliation: Division of Genetics, Children's Hospital of Philadelphia, Pennsylvania.
authors.forename: M
authors.initials: M
authors.lastname: Natowicz
authors.forename: J
authors.initials: J
authors.lastname: Chatten
authors.forename: R
authors.initials: R
authors.lastname: Clancy
authors.forename: K
authors.initials: K
authors.lastname: Conard
authors.forename: T
authors.initials: T
authors.lastname: Glauser
authors.forename: D
authors.initials: D
authors.lastname: Huff
authors.forename: A
authors.initials: A
authors.lastname: Lin
authors.forename: W
authors.initials: W
authors.lastname: Norwood
authors.forename: L B
authors.initials: LB
authors.lastname: Rorke
authors.forename: A
authors.initials: A
authors.lastname: Uri
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D012189:Retrospective Studies