Down’s Syndrome and heart defect: Is there a connect?

Kids with this medical condition are often said to have a congenital heart defect.

By: Aishwarya Iyer | | Updated: July 17, 2018 3:50 pm

Last week, Mohammed Bin Rashid Al Maktoum Humanitarian and Charity Est. and Dubai Health Authority partnered with Fortis Healthcare, Mumbai, to fund 132 surgeries for free. While the event was going on, the doctors made an interesting observation- ‘Babies with Down’s Syndrome (DS) have heart defects.’ DS or Trisomy 21 is a medical condition wherein there is an extra genetic material present in chromosome 21- which causes cognitive and growth delays. Also Read - Clogged arteries: Foods that can help prevent hardening of blood vessels

“It is unclear why Trisomy 21 occurs, but there are certain scenarios that increase the risk of carrying a child with DS,” said Dr Asmita Mahajan, consultant neonatologist and paediatrician, SL Raheja Hospital. Also Read - Study links high level of iron in lungs to increased asthma severity

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At the time of conception, a baby inherits genetic information from its parents in the same amount, as in 23 chromosomes from mother as well father. In case of DS, the child inherits an extra chromosome 21, and this causes the physical deformities and developmental delays.

Kids with this medical condition are often said to have a congenital heart defect. “If the normal population risk of Heart Disease is at 0.2%, the children with DS are at a 40-60% risk of having Congenital Heart Defects,” explained Dr Mahajan.

How will you identify if your child has DS?

Babies with DS have certain characteristics, which causes definitive physical features. Here are some of them to watch out for (at the time of birth):

Small head
Peculiar ears
Short neck
Eyes that slant upwards
Flat facial features
Bulging tongue.

Let’s talk statistics

The most common heart defects amongst children with DS are –

Atrioventricular Septal Defect or Atrioventricular Canal Defects (45%),
Ventricular Septal Defects (35%),
Secundum Atrial Septal Defects (8%),
Patent Ductus Arteriosus (7%),
Tetralogy of Fallot (4%).

“Congenital heart disease (CHD) is frequently described in patients with DS and is the main cause of death in this population during the first two years of life,” stated a study named ‘Congenital heart disease and Down syndrome: various aspects of a confirmed association,’ published in the Cardiovascular Journal of America.

Why do babies with Down syndrome have heart defects?

According to the National Down Syndrome Society, these heart defects are due to a fault in the lungs of those living with this syndrome. In other words, the lungs of children suffering from DS do not develop fully. As a result of this, the growth of blood vessels throughout the lungs are very limited. These arteries are responsible for the increased pressure as well as blood flow through the lungs.

Treatment options

“There is no treatment or cure per se for Down’s Syndrome; the clinical defects can be treated as per need,” said Dr Mahajan.

For example, the heart defects if detected early through screening can be operated upon early to give a good survival lifespan to these children. Other surgical problems like Gastrointestinal defects may also be present, which may also need surgeries at the appropriate age, at times, soon after birth.

Reference:

Sanaa, B., Abdenasser, D., & Ayoub, E. H. (2016). Congenital heart disease and Down syndrome: various aspects of a confirmed association. Cardiovascular Journal of Africa, 27(5), 287–290. http://doi.org/10.5830/CVJA-2016-019

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Published : July 17, 2018 1:15 pm | Updated:July 17, 2018 3:50 pm

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