Related Experiment Videos
22q11 deletions in patients with conotruncal heart defects
S Worthington1, C Bower, K Harrop
1Genetic Services of Western Australia, Princess Margaret Hospital, Subiaco, Western Australia, Australia.
Insights
Seventeen percent of children with conotruncal heart defects (CTD) have 22q11 deletions. Children with CTD and features like developmental delay or facial differences are at higher risk for this genetic deletion.
Area of Science:
- Genetics
- Pediatric Cardiology
- Developmental Pediatrics
Background:
- Conotruncal heart defects (CTD) are a significant group of congenital heart conditions.
- 22q11 deletion syndrome is a common genetic disorder with variable clinical manifestations.
Purpose of the Study:
- To determine the prevalence of 22q11 deletions in children with CTD.
- To identify clinical features associated with 22q11 deletions in this population.
Main Methods:
- Clinical and laboratory evaluation of 90 children diagnosed with CTD.
- Fluorescence in situ hybridization (FISH) using the Oncor probe N25 to detect 22q11 deletions.
Main Results:
- 22q11 deletions were identified in 15 out of 90 children (17%).
- Developmental delay, learning disabilities, and facial dysmorphism were frequently observed in children with deletions.
- Children with isolated CTD and no dysmorphic features did not have 22q11 deletions.
Conclusions:
- 22q11 deletions are a notable cause of CTD.
- A high index of suspicion for 22q11 deletion disorders is warranted in children with CTD, especially those with extracardiac anomalies.
- Early diagnosis facilitates timely intervention and management.
Objective:
To ascertain the frequency of 22q11 deletions in a representative population of conotruncal heart defects (CTD) and determine which children are at risk of having a deletion.
Methodology:
A clinical and laboratory evaluation of 90 children with CTD, including isolated and syndromic cases.
Results:
Fifteen children (17%) were shown to have 22q11 deletions by fluorescence in situ hybridization (FISH) studies with the Oncor probe N25. Varying degrees of developmental delay/learning disabilities and facial dysmorphism were common in these children. None of the isolated cases without dysmorphism had a deletion.
Conclusion:
22q11 deletions are a significant cause of a specific form of congenital heart disease, CTD. It is important to have a high index of suspicion of the 22q11 deletion disorders in children with CTD and other extracardiac manifestations so that the diagnosis can be made early and appropriate interventions implemented.