Down syndrome and heart disease

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Do children with Down syndrome (Trisomy 21) need cardiology evaluation and what are some of the cardiac problems they may encounter?

Children with Down syndrome can have multiple malformations.  Up to 50% of them can have a malformation of the heart and so it is recommended that all children with Down syndrome undergo an echocardiogram or see a pediatric cardiologist early in life. This first assessment should be done in the first month or two of life since some children with Down syndrome may have significant cardiac malformations without having any obvious murmur.  If heart disease is not recognized early in life, there is a higher risk of developing pulmonary hypertension, a condition in which the pressure in the lungs and right side of the heart are elevated.  Pulmonary hypertension can become irreversible if found late and could preclude surgical correction of the cardiac malformation.

It is recommended that infants with Down syndrome who had a normal fetal echocardiogram also undergo an echocardiogram after birth according to the American Academy of Pediatric Guidelines that were published in The Journal of Pediatrics in 2011 (volume 128, pages 393-406).  It is my personal feeling that those children should have an echocardiogram sometime between two weeks and four weeks of life, rather than immediately at birth, because many children will have transitional findings on echocardiogram in the first few days of life that are likely normal, but will require a follow-up study.

Children with Down syndrome who are known to have congenital heart disease need regular follow-up with a pediatric cardiologist.  Some of these children may eventually be discharged from follow-up depending on the nature of the problem and whether it has resolved.  More serious forms of congenital heart disease in patients with Down syndrome, such as an AV canal defect or tetralogy of Fallot, will likely require lifelong follow-up with a cardiologist trained in congenital heart disease.

Some teenage children with Down syndrome who have a normal heart may require pediatric cardiology assessment if they have obstructive sleep apnea.  Sleep apnea can be more common in children with Down syndrome because of the anatomy of their airway and it can be aggravated by obesity.  Children with Down syndrome have a higher risk of developing pulmonary hypertension, especially with sleep apnea, which is why an echocardiogram may be helpful because it can provide an estimate of the pressure in the “lung circuit” of the heart and would assist in decision-making in treatment of sleep apnea.

For further reading, please see the following websites: 

Marc D. Le Gras, B.Sc., M.D., C.M.

Pediatric Cardiology

Pediatric Electrophysiology and Pacing

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