Survival of Patients With Down Syndrome and Congenital Heart Disease

Study Questions:

What is the impact of Down syndrome (DS) and Eisenmenger syndrome (ES) in the survival of patients with congenital heart disease (CHD)?

Methods:

Using the National German Registry for CHD, patients with DS were identified and stratified according to the development of ES (defined as pulmonary hypertension with cyanosis and a nonrestrictive intra- or extra-cardiac communication). Patients with atrial septal defects alone were excluded.

Results:

A total of 894 patients were included in the study, 84% of whom were intervened upon, with 57% of procedures performed within the first year of life. Reflecting current practice, the likelihood of therapy before 1 year of age ranged from 0% in the 1950s, 2% in the 1970s, and 86% for the years 2000 and beyond. Over a median follow-up of approximately 18 years, 60 developed ES, 53% of whom came from the 1950s cohort, with only 0.5% from the post-year 2000 cohort. Those intervened upon beyond the first year of life had a significantly increased risk for developing ES. The most common diagnosis was atrioventricular (AV) canal defect, but patent ductus arteriosus (PDA) was the most common lesion for those with ES. The median age at death was 22 years, with a 75% survival for the entire cohort at age 40 years. ES is the only significant predictor of outcome after adjustment for age and era of birth. DS patients had an overall worse survival compared to the general German population, with or without ES, although survival was worse in the former.

Conclusions:

ES is detrimental to the survival of patients with DS and CHD. Repair of significant left-to-right shunts within the first year of life improves the long-term survival of patients with DS, although their longevity does not approach that of the general German population.

Perspective:

In first-world countries, significant left-to-right shunts in patients with DS are intervened upon within the first year of life. That a PDA is the most common lesion in those with ES emphasizes the need for vigilance in screening and treating DS patients. This large database study gives credence to this practice, which has become the standard of care in the United States. The conclusions that: 1) ES is detrimental to survival, and 2) early correction of significant left-to-right shunts (in those in whom biventricular repair is possible) decreases the incidence of ES, are not novel. In the current era, a more perplexing question is whether to proceed with a single-ventricle type palliation in a patient with DS and an unbalanced AV canal defect. The information reiterated in this study that the risk for ES increases with age, underscores the need to perform early palliative procedures to limit pulmonary blood flow in patients with DS and large left-to-right shunts, in whom a biventricular repair cannot be achieved.

Clinical Topics: Cardiac Surgery, Congenital Heart Disease and Pediatric Cardiology, Heart Failure and Cardiomyopathies, Invasive Cardiovascular Angiography and Intervention, Pulmonary Hypertension and Venous Thromboembolism, Cardiac Surgery and CHD & Pediatrics, Cardiac Surgery and Heart Failure, Congenital Heart Disease, CHD & Pediatrics and Interventions, CHD & Pediatrics and Quality Improvement, Pulmonary Hypertension, Interventions and Structural Heart Disease

Keywords: Cardiac Surgical Procedures, Cyanosis, Down Syndrome, Ductus Arteriosus, Patent, Eisenmenger Complex, Heart Defects, Congenital, Heart Septal Defects, Atrial, Hypertension, Pulmonary, Standard of Care, Survival


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