Zakaria D, et al. - This research gauged the impact of chromosomal abnormalities on the surgical outcome in infants with hypoplastic left heart syndrome (HLHS). A link was brought to light between the presence of any genetic abnormality in such patients with increased mortality and morbidity. Hence, the recommendation put forth were timely genetic testing, appropriate family counseling, and thorough preoperative case selection, for these patients for any operative intervention.

Methods

• The data was extracted from the multi-center Pediatric Heath Information System database.
• The eligible candidates selected for study were infants with HLHS who underwent Stage I Norwood, Hybrid, or heart transplant during their first hospitalization from 2004 through 2013.
• The clinical data between infants with and without genetic abnormality were compared, among the three most common chromosomal abnormalities, and between survivors and non-survivors.
• Multivariable analysis inspected the predictors of mortality among patients with genetic abnormalities.

Results

• 5721 infants with HLHS were identified; 282 (5%) presented with associated genetic abnormalities.
• The three most common chromosomal abnormalities were Turner (25%), DiGeorge (22%), and Downs (12.7%) syndromes.
• The proportion of patients with genetic abnormalities undergoing cardiac operations increased without any notable increases in mortality.
• Infants with genetic abnormalities exhibited longer hospital length of stay and higher morbidity and mortality, than those without abnormalities.
• Variables related to mortality were lower gestational age, longer duration of vasopressor therapy, need for dialysis, and cardiopulmonary resuscitation; and complicated clinical course as suggested by necrotizing enterocolitis, septicemia.