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Congenital heart defects affect around 40 to 50 percent of people with Down’s syndrome. This guide explains which conditions are most common, why they occur and how they are identified and treated.
Congenital heart defects are among the most serious health conditions associated with Down’s syndrome. Between 40 and 50 percent of babies born with Down’s syndrome have a structural heart defect present from birth, and NADS confirms that approximately 40 percent of children with Down’s syndrome have congenital heart defects. The presence of a heart defect significantly increases the risk of early death without surgical intervention, and cardiac screening through echocardiography is therefore recommended for all newborns with Down’s syndrome. With timely surgical correction and appropriate follow-up, most children with Down’s syndrome and congenital heart defects now survive into adulthood.
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The extra copy of chromosome 21 affects the development of the heart during the embryonic period. Chromosome 21 contains genes involved in the development of the endocardial cushions, which are the structures in the developing heart that form the valves and the septum between the chambers. The extra copy of these genes disrupts normal cardiac development, leading to structural defects in the heart. The specific type and severity of defect varies between individuals.
AVSD is the most common specific congenital heart defect in Down’s syndrome and accounts for the largest proportion of cardiac cases. In AVSD, there is a defect in the wall between the upper chambers and the lower chambers of the heart, combined with abnormality of the atrioventricular valves. This leads to mixing of oxygenated and deoxygenated blood and increased blood flow through the lungs. AVSD requires surgical correction, typically in the first six months of life, and outcomes with surgery are now very good.
VSD, a hole in the wall between the two lower chambers of the heart (the ventricles), is another common defect in Down’s syndrome. Smaller VSDs may close on their own without intervention. Larger VSDs that cause significant symptoms require surgical closure. VSDs are among the most common congenital heart defects in the general population as well as in Down’s syndrome, and surgical techniques for their correction are well established.
The ductus arteriosus is a blood vessel that connects the aorta and pulmonary artery in fetal life, bypassing the lungs. In most babies, this vessel closes shortly after birth. In some babies with Down’s syndrome, it remains open, creating a PDA. Smaller PDAs may close spontaneously or with medication. Larger PDAs that do not close require intervention, either through a catheter-based procedure or surgery.
NADS recommends that an echocardiogram be performed on all newborns with Down’s syndrome, whether or not there are clinical signs of a heart problem. Some heart defects produce no symptoms in the newborn period and will not be detected without echocardiography. Early detection allows surgical intervention to be planned before complications arise. The echocardiogram should be performed by a paediatric cardiologist or in a centre experienced in congenital heart disease.
Following surgical correction of a congenital heart defect, people with Down’s syndrome require ongoing cardiological follow-up throughout their lives. Some people with repaired heart defects develop complications in later life, including pulmonary hypertension, valve problems and arrhythmias, that require monitoring and treatment. Adults with Down’s syndrome should have regular cardiac checks as part of their overall health surveillance and should inform all healthcare providers about their cardiac history.
For related information see our articles on Down’s Syndrome Health Conditions and Life Expectancy With Down’s Syndrome.
No. Around 40 to 50 percent of babies born with Down’s syndrome have a congenital heart defect. The remainder do not have significant structural heart problems at birth. However, because the proportion affected is so high, echocardiography is recommended for all newborns with Down’s syndrome, whether or not symptoms are present.
The most common specific heart defect in Down’s syndrome is atrioventricular septal defect (AVSD), which involves a hole in the wall between the upper and lower chambers of the heart combined with valve abnormality. AVSD requires surgical correction, typically in the first six months of life. Other common defects include ventricular septal defect and patent ductus arteriosus.
Yes. Many congenital heart defects in Down’s syndrome can be surgically corrected, and outcomes with modern cardiac surgery are excellent. Early detection through echocardiography and timely surgical intervention have transformed the prognosis for babies with Down’s syndrome and congenital heart defects. With appropriate treatment and follow-up, most affected individuals now survive into adulthood and can lead healthy lives.
Visit our Understanding Down’s Syndrome hub for more guides on causes, diagnosis, education, health conditions and independent living.
The information in this article is provided for educational purposes only and is not intended as medical advice. If you have concerns about Down’s syndrome or any health condition, speak to a qualified healthcare professional. SENDhelp Education Limited accepts no responsibility or liability for any loss or damage arising from reliance on this content. Any links to third-party websites are provided for convenience only and do not constitute endorsement of their content.
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