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Genetic disorders and major extracardiac anomalies associated with the hypoplastic left heart syndrome
M Natowicz1, J Chatten, R Clancy
1Division of Genetics, Children's Hospital of Philadelphia, Pennsylvania.
Insights
Hypoplastic left heart syndrome (HLHS) often has underlying genetic causes or extracardiac anomalies. A significant number of HLHS patients, 28%, showed these associations, highlighting the need for genetic evaluation.
Area of Science:
- Cardiology
- Genetics
- Pediatrics
Background:
- Hypoplastic left heart syndrome (HLHS) is a severe congenital heart defect.
- Identifying associated genetic and extracardiac anomalies is crucial for understanding HLHS etiology and prognosis.
Purpose of the Study:
- To determine the frequency of chromosomal abnormalities, single-gene defects, and idiopathic extracardiac anomalies in pediatric patients with HLHS.
- To assess the overall prevalence of genetic disorders and major extracardiac anomalies in HLHS.
Main Methods:
- Retrospective review of pediatric autopsies over an 11-year period.
- Analysis of 83 patients diagnosed with hypoplastic left heart syndrome.
Main Results:
- Nine patients (11%) had chromosomal abnormalities.
- Four patients (5%) had single-gene defects.
- Ten patients (12%) had major extracardiac anomalies without identified genetic disorders.
- Two patients (2%) were from diabetic mothers.
- A total of 23 patients (28%) had a genetic disorder and/or major extracardiac anomaly.
Conclusions:
- A significant proportion of HLHS cases are associated with identifiable genetic causes or major extracardiac anomalies.
- These findings emphasize the importance of comprehensive genetic evaluation for all patients diagnosed with 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.