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Aug 01, 2016

Survival Rates Improving for Patients with Down Syndrome and Congenital Heart Defects

Early surgical treatment—which has become more common over the last six decades—improves outcomes.

Thanks to advances in surgical treatment, over the last 60 years survival rates have drastically improved in patients with Down syndrome and congenital heart defects, based on a recent analysis of a German health registry.

Published in the British medical journal Heart, this study analyzed outcomes among patients with both Down syndrome and congenital heart defects. Congenital heart defects are the most common type of birth defect, particularly among individuals with Down syndrome. Approximately half of infants born with Down syndrome have some type of heart defect, which can cause serious complications both in childhood and later in life. Despite advances in treatment, patients with Down syndrome and heart defects tend to have poorer survival rates than the general population.

To better understand survival trends, researchers analyzed data from a national German registry of patients with congenital heart defects. Among nearly 47,000 patients included in the registry, roughly 900 had Down syndrome and were at high risk for a complication called Eisenmenger syndrome.

Eisenmenger syndrome (ES) is a life-threatening condition that occurs when the direction of blood flow reverses in the heart, causing blood to circulate abnormally in the heart and lungs. While early surgery can help prevent this dangerous complication in patients with heart defects, not all patients are eligible for surgery. Historically, some doctors have been reluctant to perform corrective surgery on patients with Down syndrome.

The good news is that based on the recent analysis, early surgical treatment has become more common in patients with Down syndrome over the past six decades. Among the 900 patients included in the study, patients with heart defects born after the year 2000 were much more likely to undergo corrective surgery before the age of one than those born in the 1950s and ‘60s. Not surprisingly, better treatment translated to improved outcomes for patients with Down syndrome and heart defects.

More than half of patients born in the ‘50s and ‘60s with Down syndrome and heart defects developed ES over their lifetime. But by the 2000s when surgery became more commonplace, ES affected less than 1% of all patients born with Down syndrome and heart defects.

Findings are encouraging, as early surgical treatment appears to have improved outcomes. While more than half of patients with Down syndrome and heart defects once developed ES, this life-threatening complication is now extremely rare in such patients. Authors hope that with continued trends, patients with Down syndrome and congenital heart defects will achieve similar outcomes to the general population.

Questions for You to Consider

  • What are congenital heart defects?
  • “Congenital” means present from birth. So, congenital heart defects refers to a number of different conditions that can occur when a baby’s heart is forming or at birth. As a result, the heart—or the major vessels in and around the heart—may not develop or work the way they should.

    Congenital heart defects are the most common type of birth defect. Roughly 8 of every 1,000 babies are born with some sort of structural defect in their hearts. These problems cause more deaths in the first year of life than any other birth defects. Some examples are atrial septal defect, coarctation of the aorta, and aortic stenosis.

    But, there is good news. More babies are surviving than ever before thanks to advances in treating and correcting many of these problems. Although most defects are found during pregnancy by ultrasound or in early childhood, some defects aren’t discovered until adulthood. About 1 million adults are living with congenital heart disease.

  • How common are congenital heart defects?
  • Congenital heart defects are the most common type of birth defect, affecting roughly 1% of all births in the United States. Thanks to advancements in treatments, it’s estimated that 1 million adults are now living with a congenital heart defect.


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