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Down syndrome with congenital heart malformation
Insights
Congenital heart disease is common in Down syndrome, with endocardial cushion defects being most frequent. Early surgical intervention improves outcomes, though risks remain, highlighting the need for ongoing advancements in care.
Area of Science:
- Cardiology
- Genetics
- Pediatrics
Background:
- Congenital heart disease (CHD) is a significant comorbidity in individuals with Down syndrome.
- Understanding the spectrum of cardiac anomalies and their management is crucial for improving patient outcomes.
Purpose of the Study:
- To characterize the types and prevalence of congenital heart defects in patients with Down syndrome.
- To evaluate the outcomes of medical and surgical management of these cardiac conditions.
Main Methods:
- Retrospective analysis of 251 patients with Down syndrome and CHD.
- Data sources included clinical evaluations, cardiac catheterization, surgical records, and autopsy reports.
- Prevalence of specific cardiac lesions and associated conditions were documented.
Main Results:
- Endocardial cushion defect (43%) and ventricular septal defect (32%) were the most common lesions.
- Thirty percent of patients had multiple cardiac defects, with patent ductus arteriosus and pulmonic stenosis being frequent associated lesions.
- Surgical intervention was performed in 25% of patients, with mortality rates of 26% for open-heart and 11% for closed-heart procedures.
Conclusions:
- Congenital heart disease, particularly endocardial cushion defects, is highly prevalent in Down syndrome.
- While surgical interventions carry risks, they are vital for managing complex CHD. Irreversible pulmonary vascular disease is a risk in nonsurgically treated patients.
- Advances in medical and surgical care have led to recent improvements in morbidity and mortality for these patients.
Abstract:
Two hundred fifty-one patients with Down syndrome and congenital heart disease was based on clinical (41%), catheterization (38%), surgical (11%), or autopsy data (10%). The most common lesions were endocardial cushion defect (43%), ventricular septal defect (32%), secundum atrial septal defect (10%), tetralogy of Fallot (6%), and isolated patent ductus arteriosus (4%). Thirty percent had multiple cardiac defects. The most common associated lesions were patent ductus arteriosus (16%) and pulmonic stenosis (9%). Twenty-five percent of the patients uncerwent cardiac surgery. Motality in the 68 patients undergoing surgery was 26% for open heart procedures and 11% for closed heart surgery. In 32% of nonsurgically treated patients with large left-to-right shunts, irreversible pulmonary vascular disease developed. Improved medical and surgical care have decreased morbidity and mortality in these patients in recent years.