Congenital Heart Defects – What Causes Them?

A little over four years ago, my sister-in-law gave birth to twin boys; my nephews, Cronin and Hudson. At first, all seemed well and both babies seemed to be perfectly healthy. It was not until two weeks later at a routine checkup that the doctor noticed that Hudson’s heartbeat sounded a bit irregular. The doctor told my brother and his wife to take Hudson to have an echocardiogram done. When the results came back, Hudson was diagnosed with atrial septal defect (ASD), a congenital heart defect in which there is a hole in the septal wall that separates the heart’s left and right atria. Therefore, the deoxygenated blood being pumped into the heart was mixing with the oxygenated blood being pumped out, so Hudson’s body was not receiving the amount of oxygen that it needed to function properly. It was as if he were running a marathon 24/7. Although serious, Hudson’s condition only required one open heart surgery for the time being (not to say he may not need more later in life). He received that surgery when he was one after being on medication for a year and now functions like any normal child.atrial-septal-defect

Picture link: https://upload.wikimedia.org/wikipedia/commons/0/09/Asd-web.jpg

Video explaining ASD: https://www.youtube.com/watch?v=O3b5id9ZIdY

According to Stanford Children’s Health, only about 1% of children whose neither parents nor siblings have a congenital heart defect (CHD) actually develop one themselves, Hudson being part of that 1%. They also said if the child’s parent or sibling does suffer from a CHD, the chances that the child will develop one increases. After having Hudson, my brother and his wife were told that the chances of having another child with a CHD were 6%. Seeing that the chances were so slim, they decided to try for another baby. They were overjoyed when they conceived my third nephew, Beckett, but when they went to find out the sex of their baby, they were shocked and distraught at the news that their baby boy was diagnosed with a CHD called hypoplastic left heart syndrome (HLHS). HLHS is a CHD in which the left side of the heart is completely underdeveloped. Beckett’s condition is much more serious than Hudson’s and he had to receive a series of three open heart surgeries in order for his heart to function somewhat like a normal heart. To add to their stress, my brother and his wife were also told that the chances of having another child with a CHD have increased to 35% after Beckett’s diagnosis.

hlhs

Picture link: http://www.cdc.gov/ncbddd/heartdefects/images/hlhs-web.jpg

Video explaining HLHS: https://www.youtube.com/watch?v=rXaEqfS34sE

Beckett’s CHD, of course, had a higher chance of developing because of that fact that Hudson has a CHD, but what exactly caused Hudson’s condition? Stanford Children’s Health says that it is known that CHD can be caused by a chromosome abnormality, single gene defects, outside factors such as certain medicine taken by the mother during early pregnancy, or a maternal illness during pregnancy. Despite all of those potential causes, though, Stanford Children’s Health also says that the cause of most CHD’s is unknown and often just attributed to the combination of the parents’ genes along with outside factors. Both my brother and his wife have had genetic testing done to determine if that could be a cause of the defects, but everything has come back normal. Doctors do not know what exactly causes a CHD in cases like Hudson’s, where all circumstances are normal as can be, but they are researching nonstop to try and figure it out. According to the National Heart Lung and Blood Institute, the research done so far has not only lengthened the lifespan of a person with a CHD, but has also improved the quality of their lives.

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Hudson (left) and Beckett (right)

Sources:

http://www.stanfordchildrens.org/en/topic/default?id=factors-contributing-to-congenital-heart-disease-90-P01788

http://www.nhlbi.nih.gov/about/documents/legislativeinformation/other-congressional-testimony/congenital-heart-disease-research 

One thought on “Congenital Heart Defects – What Causes Them?

  1. Michael Robert Szawaluk

    I am very sorry that your young relatives had to go through this at such a young age. I do, however, know a little bit of what you are talking about. My grandfather recently received a heart transplant in 2014. He did have previous history of it in his family but from about three generations ago. My mother told me that he never used to take care of his teeth and she thinks that could have been like to his serious heart problems. Ever since then I make sure I brush my teeth twice a day and floss. Here is an article from WebMD that explains why brushing your teeth can reduce your risk of heart disease: http://www.webmd.com/oral-health/news/20100527/brushing-teeth-may-keep-heart-disease-away

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