Before moving onto what actually causes congenital heart defects in children, let’s have a quick look at your heart.
Anatomy and Physiology of Heart
Heart is a muscular blood-pumping organ that consists of four chambers, two on the right side and two on the left. Deoxygenated blood in the right chambers is transported to the lungs (for oxygenation) via pulmonary arteries.
The blood after getting oxygenated in the lungs, returns to the left chambers via pulmonary veins. The left side then pumps blood through aorta to the whole body.
How heart defects develop?
The heart along with major blood vessels begins to form at about sixth week of pregnancy. This time is critical as any anomaly in the development process can lead to heart defects.
However, the exact cause of heart defects is still unknown. It is thought to occur due to genetic factor, certain medical conditions, some medications and environmental factors, such as smoking during pregnancy.
Types of heart defects
Holes in the heart
Holes that form in between the chambers of heart or major blood vessels of the heart may lead to mixing of oxygenated and deoxygenated blood.
If this mixing occurs in a large scale, the mixture containing less amount of oxygen is circulated throughout the body. Insufficient amount of oxygen in blood leads to bluish discoloration of your child's skin or fingernails.
Oxygen deficiency can also cause shortness of breath, irritability and leg swelling. A ventricular septal defect is a hole in the wall between two ventricles, the lower chambers of the heart.
An atrial septal defect is a hole between two atria, the upper chambers of heart. Patent ductus arteriosus is a congenital defect in which the connection between pulmonary artery (carrying oxygen-poor blood) and the aorta (carrying oxygen-rich blood) persists after birth.
A complete atrioventricular canal defect is characterized by presence of a hole in the center of the heart.
Blood flow obstruction (stenosis)
Narrowing of blood vessels or heart valves leads to obstruction in blood flow. Pulmonary stenosis occurs due to narrowing of the pulmonary valve, which controls the flow of blood from right ventricle to the lungs.
Aortic stenosis occurs due to narrowing of the aortic valve, which controls the flow of blood from left ventricle to the body via aorta. Narrowed valves hinder the blood flow and cause heart muscle to pump blood with greater force, which can cause enlargement and thickening of the heart.
Blood vessel abnormalities
These include wrongly positioned or abnormally formed blood vessels. In a defect called transposition of the great arteries, pulmonary artery and aorta are switched.
In another defect called coarctation of the aorta, part of the aorta is narrowed which can lead to hypertension. Total anomalous pulmonary venous return occurs pulmonary veins that carry oxygenated blood from lungs to heart attach to wrong part of the heart.
Heart valve abnormalities
These abnormalities cause abnormal opening or closure of the valves. Examples include Ebstein's anomaly and pulmonary atresia.
In Ebstein's anomaly, the tricuspid valve which separates right atrium and right ventricle is not developed properly. Pulmonary atresia occurs when pulmonary valve doesn’t form correctly causing abnormal blood flow to the lungs.
An underdeveloped heart
In a defect called hypoplastic left heart syndrome, left part of the heart is not developed completely which causes insufficient blood supply to the body.
A combination of defects
Sometimes children are born with combination of different heart defects.
a hole in the wall between the heart's ventricles,
a narrowed connection between the right ventricle and pulmonary artery,
a shift in the connection of the aorta to the heart,
thickened muscle in the right ventricle.
4 Making a Diagnosis
Congenital heart defects in children are usually diagnosed during routine exams in pregnancy or soon after birth. Visit your child's doctor if you observe any symptoms of heart defect.
How to prepare yourself for the visit?
Getting prepared for the visit can optimize the therapy and help make the visit more fruitful. List out all your child’s symptoms.
Write down the names of all medications, vitamins or supplements taken during pregnancy.
Make a list of the questions to ask your doctor
Some typical questions can be:
Is there a genetic connection of my child’s signs and symptoms?
What are the tests needed for my child?
Do I need to prepare my child for these tests?
Is treatment necessary? If so, when can we start?
Is there any treatment best suited to my child?
Is there a chance that my child will have long-term complications?
Can you suggest any complication-monitoring mechanisms that we can practice?
Can this condition recur in my future child?
What your doctor wants to know?
A clear talk with your doctor can optimize the therapy and improve the outcomes.
Prepare yourself to answer some essential questions from your doctor’s doctor. S/he might ask you typical questions like:
When did your child's symptoms become apparent?
How would you describe your child's symptoms?
When do these symptoms occur?
Do the symptoms occur continuously or occasionally?
Have you noticed worsening of the symptoms?
Has anyone form your family history had congenital heart defects?
Does anything improve or worsen your child's symptoms?
Is your child growing normally?
A heart murmur, sound caused by abnormal blood flow in the heart or blood vessels, during a routine examination may prompt your child's doctor to recommend further investigational tests like:
Fetal echocardiogram, a type of ultrasound, uses sound waves to obtain the images of your child's heart inside the womb. This test can detect heart defects of your baby before birth.
This noninvasive test uses sound waves to obtain the images of your child's heart. Echocardiogram can detect problems in your child's heart muscles and valves.
Electrical activity of your child’s heart is recorded to detect heart beat and rhythm.
A chest X-ray helps to detect the enlargement of the heart or extra amount of blood and fluid in the lungs. Both of these could indicate heart failure.
A sensor placed at the end of your child's finger assesses the amount of oxygen in your child's blood. Lower amount of oxygen indicates your child has a heart problem.
A catheter (thin, flexible tube) is put into a blood vessel in your baby's groin and moved up into the heart. Catheterization is useful for obtaining a thorough view of heart defects which can't be obtained from other tests.
Some congenital heart defects in children, for instance small holes, may correct themselves and require no treatment. Also some heart defects could be serious and require immediate medical intervention.
Treatment approaches for heart defect include:
Procedures using catheterization
It eliminates the need of surgery to repair the defects. In this procedure, a catheter (thin tube) is inserted into a leg vein and moved to the heart under guidance of X-ray images. A tiny tool is guided to the site of defect via catheter to correct the defect.
Surgery is opted if catheter procedures can’t correct your child's heart defect. The type of surgery chosen depends on the severity of the defect.
For less severe defects, minimal invasive heart surgery is sufficient whereas for severe defects open-heart surgery may be needed. Both surgeries require the heart to stop for a certain period of time and use heart-lung machine to pump the blood throughout the body during surgery.
In minimal invasive heart surgery, the surgeons usually operate through ribs by using small holes. Your child may take time to recover after the surgery.
For milder heart defects, especially those diagnosed later in childhood or adulthood, medications such as angiotensin-converting enzyme (ACE) inhibitors, angiotensin II receptor blockers (ARBs), beta blockers, and diuretics (medications that cause fluid loss) can provide relief to heart by decreasing blood pressure, heart rate and amount of fluid.
Irregular heartbeats (arrhythmias) can be treated by certain medications. The treatment does not end once a surgery is conducted. Treatments for congenital heart defects require repetitive or multi-step procedures.
Some children with congenital heart defects may need a number of catheter procedures and surgeries throughout their life. Your child may require continual inspection and care even after surgery.
Lifelong monitoring and treatment
Your child's condition may need to be constantly reviewed even after surgery. Initially a pediatric cardiologist monitors your child's condition and then an adult cardiologist. It's important that you constantly remind your aging child about his condition and the need for care.
Most of the children with heart defect can participate in normal or near-normal activity. However, few children may need to limit their physical activities. Ask your child's doctor about the safe activities for your child. Encourage your child to participate in safe activities instead of constantly reminding the activities which they are no supposed to do.
In some cases, congenital heart defect can increase the chances of infection, either in the lining of heart or hear valves (infective endocarditis).
You doctor may prescribe antibiotics to prevent infection before additional surgeries or dental procedure. Your child is at increased risk of having infections if his/her defect are corrected by using prosthetic material or device, such as artificial heart valve.
Congenital heart defects in children cannot be prevented but the risk of congenital defects can be reduced.
If you are pregnant or planning, do these to minimize your child's risk of congenital defects:
Get vaccinated against rubella or German measles before you get pregnant.
Keep chronic diseases such as diabetes under control. Talk to your doctor if you are taking medicines for chronic diseases and planning to have a baby.
Don’t smoke and drink alcohol during pregnancy.
Don’t take any drugs, herbs or dietary supplements before consulting your doctor.
Take multivitamin pill daily.
7 Lifestyle and Coping
Many children with congenital heart defects live normal or near-normal life, however, your child may have some difficulties in coping with the defects. Difficulties include:
Repeated surgeries and procedures as well as long recovery time may hinder your child's development. Learning or writing problems may also occur. Discuss with your doctor about the measures that could be helpful for your child.
Many children because of their developmental difficulties may be emotionally disturbed. Ask your doctor about the tips that could help your child cope with these insecurities.
Join a support group.
Talking to other parent who have experienced the same situation might be helpful.
8 Risks and Complications
There are several risks and complications associated with congenital heart defects in children.
Rubella (German measles): Being infected with German measles during pregnancy can lead to underdeveloped heart in your child.
Diabetes: Having high blood sugar during pregnancy can impair your fetus's heart development. Take control of your blood sugar to decrease the risk. Pregnancy induced diabetes poses no risk.
Medications: Medications such as thalidomide, isotretinoin, lithium and valproate should be avoided during pregnancy.
Drinking and smoking during pregnancy
Heredity: Your child may have congenital heart defects if anyone from your family has the defects. Also, heart defects are common in child with genetic syndromes, such as Down syndrome.
Congestive heart failure: Congestive heart failure, a condition where heart is unable to pump sufficient blood, is a serious complication of severe heart defect. Signs of congestive heart failure are fast breathing, often with gasping breaths, and poor weight gain.
Slower growth and development: Children with severe congenital heart defects are more likely to have delayed growth and development.
Heart rhythm problems: Arrhythmias (irregular heartbeats) can develop due to congenital heart defect or due to scars from surgery.
Cyanosis: Bluish discoloration of your child's skin may occur due to mixing of oxygenated and deoxygenated blood.
Stroke: Risk of stroke is higher in children with congenital heart defect.
Emotional issues: Emotional problems are common among children with congenital heart defects.
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