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Cardiac care in trisomy 18: A path to improved outcomes (case report)
Abdullghany Dowaikh1, Atif Alsahari2, Saad Khoshhal3
1Pediatric Cardiology Department, Prince Sultan Cardiac Center, Riyadh, Kingdom of Saudi Arabia.
Insights
Cardiac interventions may benefit infants with Trisomy 18 (Edwards syndrome), despite associated developmental anomalies. This case shows positive outcomes from pulmonary valvuloplasty and PDA stenting, suggesting individualized treatment is viable.
Area of Science:
- Cardiology
- Genetics
- Pediatrics
Background:
- Trisomy 18 (Edwards syndrome) is a genetic disorder with severe developmental issues.
- Cardiac complications are a primary cause of mortality in Trisomy 18 patients.
- The efficacy of cardiac interventions in this population is debated.
Observation:
- A full-term infant diagnosed with Trisomy 18 presented with pulmonary atresia and other cardiac defects.
- The neonate underwent emergency procedures including balloon pulmonary valvuloplasty and patent ductus arteriosus (PDA) stenting.
- The infant experienced a transient desaturation post-intervention but ultimately showed positive response.
Findings:
- Successful cardiac intervention in a Trisomy 18 patient with complex congenital heart disease.
- Demonstrated feasibility of pulmonary valvuloplasty and PDA stenting in this demographic.
- Positive patient response suggests potential for improved outcomes.
Implications:
- Challenges the assumption that cardiac interventions are universally unsuitable for Trisomy 18.
- Highlights the potential for selective cardiac interventions to improve quality of life.
- Supports the need for further research and individualized treatment guidelines for Trisomy 18 patients with cardiac conditions.
Background:
Trisomy 18 (also known as Edwards syndrome) is a chromosomal disorder characterized by severe developmental anomalies and cognitive deficits. Cardiac complications are a leading cause of mortality in these patients, and the role of cardiac interventions remains controversial.
Case Presentation:
We report a case of a full-term baby girl with trisomy 18, born via elective cesarean section. The neonate presented with pulmonary atresia and a series of other cardiac abnormalities, necessitating immediate intervention. Despite the initial challenges, including a brief episode of desaturation post-intervention, the patient responded positively to a balloon pulmonary valvuloplasty and emergency patent ductus arteriosus stent insertion, illustrating the potential benefits of cardiac interventions in patients with trisomy 18.
Discussion:
This case highlights the successful application of cardiac interventions in a patient with trisomy 18, challenging the notion of universally denying such treatments to this population. Our findings suggest that selective interventions can improve quality of life and stabilize the condition, supporting the need for further research to establish clear guidelines for treatment in this demographic.
Conclusion:
This case adds to the growing evidence supporting the feasibility and potential benefits of cardiac interventions in patients with trisomy 18, advocating for a more individualized approach to treatment.
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