Genetic disorders and major extracardiac anomalies associated with the hypoplastic left heart syndrome.
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.
Natowicz
M
M
Division of Genetics, Children's Hospital of Philadelphia, Pennsylvania.
Chatten
J
J
Clancy
R
R
Conard
K
K
Glauser
T
T
Huff
D
D
Lin
A
A
Norwood
W
W
Rorke
L B
LB
Uri
A
A
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