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Cardiac surgery in a girl with trisomy 13
P Strømme1, E Thaulow, O Geiran
1Department of Paediatrics, Rikshospitalet, The National Hospital, Oslo, Norway. petter-stromme@adelaide.edu.au
Insights
Trisomy 13 caused severe developmental delays and multiple anomalies in an infant. Surgical repair of a ventricular septal defect improved her condition despite her eventual passing.
Area of Science:
- Genetics
- Pediatric Cardiology
- Developmental Pediatrics
Background:
- Trisomy 13 (Patau syndrome) is a severe chromosomal disorder associated with multiple congenital anomalies and intellectual disability.
- Congenital heart defects are common in infants with trisomy 13, often contributing to significant morbidity and mortality.
Observation:
- A profoundly retarded infant girl presented with multiple anomalies characteristic of trisomy 13.
- The infant experienced heart failure refractory to medical management.
Findings:
- A ventricular septal defect was successfully surgically repaired at three months of age.
- The infant survived until 10 months of age, suggesting potential benefits from the cardiac intervention.
Implications:
- Surgical intervention for congenital heart defects in infants with trisomy 13 may offer clinical benefits, even in the presence of profound developmental delays.
- This case highlights the complex management challenges and the potential impact of palliative cardiac surgery in trisomy 13.
- Further research is warranted to evaluate the long-term outcomes and quality of life for trisomy 13 patients undergoing cardiac surgery.
Abstract:
We describe a profoundly retarded infant girl with multiple anomalies caused by trisomy 13. Due to heart failure, which was resistant to medical treatment, we closed successfully a ventricular septal defect at three months of age. She died at 10 months of age. Despite the short survival, we believe that the patient benefitted significantly from the surgical repair of her cardiac defect.