Hypoplastic left heart syndrome with intact atrial septum associated with deletion of the short arm of chromosome 18.
We report on a female newborn with deletion of the short arm of the chromosome 18 (del 18p) and hypoplastic left heart syndrome (HLHS) with intact atrial septum. Several forms of congenital heart disease (CHD) are found in 10% of patients with this chromosomal abnormality, although HLHS has not been reported yet. Interesting coronary artery anomalies, as well as the presence of pulmonary lymphangiectasia, were found in our patient and were contributors to her fatal outcome. Del 18 p must be considered when evaluating a patient with characteristic phenotypical anomalies and HLHS with intact atrial septum.
Vasquez
Julio C
JC
Department of Cardiovascular Surgery, Children's Hospital of Michigan, 3901 Beaubien Street, Detroit, MI 48201, USA.
Rabah
Raja
R
Delius
Ralph E
RE
Walters
Henry L
HL
D000015:Abnormalities, Multiple; D002872:Chromosome Deletion; D002887:Chromosomes, Human, Pair 18; D003331:Coronary Vessels / Q000473:pathology; D017809:Fatal Outcome; D005260:Female; D006346:Heart Septum; D006801:Humans; D018636:Hypoplastic Left Heart Syndrome / Q000235:genetics / Q000473:pathology*; D007231:Infant, Newborn; D008168:Lung / Q000098:blood supply / Q000473:pathology; D008200:Lymphangiectasis / Q000473:pathology; D008208:Lymphatic System / Q000473:pathology