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Chromosomal Abnormalities Affect the Surgical Outcome in Infants with Hypoplastic Left Heart Syndrome: A Large Cohort
Dala Zakaria1, Xinyu Tang2, Rupal Bhakta3
1Pediatric Cardiology, Arkansas Children's Hospital, University of Arkansas for Medical Sciences, Little Rock, AR, USA. dzakaria@uams.edu.
Insights
Genetic abnormalities affect 5% of hypoplastic left heart syndrome (HLHS) infants, increasing morbidity and mortality. Early genetic testing and counseling are crucial for these complex pediatric cardiac cases.
Area of Science:
- Pediatric Cardiology
- Clinical Genetics
- Congenital Heart Disease Research
Background:
- Hypoplastic left heart syndrome (HLHS) is a complex congenital heart defect.
- Genetic abnormalities are frequently associated with HLHS, potentially impacting patient outcomes.
- Understanding the incidence and impact of these genetic conditions is vital for clinical management.
Purpose of the Study:
- To determine the incidence of genetic abnormalities in infants diagnosed with HLHS.
- To evaluate the short-term outcomes of HLHS infants with and without genetic abnormalities during their initial hospitalization.
- To identify predictors of mortality in HLHS infants with genetic abnormalities undergoing cardiac surgery.
Main Methods:
- Retrospective analysis of the Pediatric Heath Information System database (2004-2013).
- Inclusion criteria: infants with HLHS undergoing Stage I Norwood, Hybrid, or heart transplant during their first hospitalization.
- Comparison of clinical data between infants with and without genetic abnormalities, analysis of common chromosomal abnormalities, and survivor vs. non-survivor outcomes; multivariable mortality analysis performed.
Main Results:
- A total of 5721 HLHS infants were identified; 282 (5%) had associated genetic abnormalities.
- Most common chromosomal abnormalities included Turner (25%), DiGeorge (22%), and Down syndromes (12.7%).
- Infants with genetic abnormalities experienced longer hospital stays, higher morbidity, and mortality compared to those without; key mortality predictors included lower gestational age, vasopressor use, dialysis, CPR, necrotizing enterocolitis, and septicemia.
Conclusions:
- The presence of any genetic abnormality in infants with HLHS undergoing cardiac surgery is linked to increased mortality and morbidity.
- Despite an increase in operations for infants with genetic abnormalities, mortality rates did not significantly rise over the study period.
- Recommendations include timely genetic testing, comprehensive family counseling, and meticulous preoperative case selection for operative interventions in HLHS patients with genetic conditions.
Abstract:
Patients with hypoplastic left heart syndrome (HLHS) can have associated genetic abnormalities. This study evaluated the incidence of genetic abnormalities among infants with HLHS and the short-term outcomes of this population during the first hospitalization. This is a retrospective analysis of the multi-center Pediatric Heath Information System database of infants with HLHS who underwent Stage I Norwood, Hybrid, or heart transplant during their first hospitalization from 2004 through 2013. We compared clinical data between infants with and without genetic abnormality, among the three most common chromosomal abnormalities, and between survivors and non-survivors. Multivariable analysis was completed to evaluate predictors of mortality among patients with genetic abnormalities. A total of 5721 infants with HLHS were identified; 282 (5%) had associated genetic abnormalities. The three most common chromosomal abnormalities were Turner (25%), DiGeorge (22%), and Downs (12.7%) syndromes. Over the study period, the number of patients with genetic abnormalities undergoing cardiac operations increased without any significant increases in mortality. Infants with genetic abnormalities compared to those without abnormalities had longer hospital length of stay and higher morbidity and mortality. Variables associated with 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. Presence of any genetic abnormality in infants with HLHS undergoing cardiac surgery is associated with increased mortality and morbidity. Timely genetic testing, appropriate family counseling, and thorough preoperative case selection are suggested for these patients for any operative intervention.
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