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  • Shaken Baby Syndrome

    Tuesday, 21 July 2015 16:28
  • Amniotic fluid problems

    Thursday, 14 May 2015 12:54
  • Choosing a pre-school

    Friday, 10 April 2015 17:50
  • Newborn reflexes

    Tuesday, 03 March 2015 15:49
  • Mastitis

    Tuesday, 03 March 2015 15:41
  • Pelvic floor exercises

    Wednesday, 11 February 2015 17:20
  • Colic

    Wednesday, 11 February 2015 17:11
  • Antenatal Classes

    Monday, 03 June 2013 09:34
  • Strap-in-the-Future

    Thursday, 30 June 2011 13:52

Congenital Heart Disease

Congenital means present or existing at birth. Congenital heart disease (CHD) refers to one or more problems involving the structure and functioning of the heart, due to abnormal development before birth. CHD is the most common type of birth defect and is responsible for more deaths in the first year of life, than any other birth defect. Many congenital heart defects are diagnosed in infancy or even before birth. But others are more difficult to detect and may only be diagnosed much later, in childhood or even adulthood (A.D.A.M., 2011; American Heart Association, Inc., 2011).

A normally functioning heart, has veins, arteries and chambers that pump blood from the body, through the heart, to the lungs for oxygen, back to the heart and finally to the body for the delivery of oxygen. This is known as a circulatory pattern. When a malformation exists in the veins, arteries or chambers, this pattern may become impaired. These structural problems result when a mishap occurs during heart development, soon after conception and often before a mother even knows that she is pregnant. These defects may or may not have an impact on the circulatory system and range in severity from simple to more severe. For example, 'holes' between the chambers of the heart are relatively simple problems, while the complete absence of 1 or more chambers or valves, is a serious malformation (American Heart Association, Inc., 2011).

Types of congenital heart disease:

There are many disorders of the heart that require medical attention. Sometimes congenital heart defects are divided into cyanotic (a bluish discoloration of the skin and mucous membranes due to insufficient oxygen in the blood) or non-cyanotic. Below is a brief overview of some of these conditions.

Obstructive defects:

Aortic stenosis (AS) - occurs when the aortic valve between the left ventricle and the aorta, is narrowed and not properly developed, making it difficult for the heart to pump blood to the body. A normal valve has 3 cusps or leaflets, while a stenoic valve only has 1 or 2. Many children with AS are asymptomatic but others may experience; dizziness, fainting, unusual tiredness or chest pain. This condition may worsen over time and surgery is required to correct the blockage, or the valve may need to be replaced with an artificial one. Congenital aortic stenosis is 4 times more common in boys than girls.

Pulmonary stenosis (PS) - the pulmonary valve, situated between the right ventricle and the pulmonary artery, opens to allow blood to flow from the right ventricle to the lungs. If the pulmonary valve is defective, it does not open properly, causing the heart to pump harder than normal to overcome the obstruction. This problem can be corrected with balloon valvuloplasty, but in some cases open heart surgery is required. PS is the second most common congenital heart defect.

Bicuspid aortic valve- A normal aortic valve has 3 flaps that open and close. In this condition, infants are born with a bicuspid valve, which only has 2 flaps. If the valve narrows, it is difficult for blood to flow through, often causing blood to leak backwards. Symptoms often only present themselves in adulthood. Treatment depends on how well the valve works. Bicuspid aortic valve is the most common congenital heart defect, affecting 1-2 % of the population. Boys are affected 4 times more frequently than girls.

Subaortic stenosis- Involves the narrowing of the left ventricle. As a result, blood flowing out of the left ventricle into the aorta, is limited and the left ventricle has an increased work load.

Coarctation of the aorta (coarct) - is a condition in which the aorta is narrowed or constricted, decreasing blood flow to the lower part of the body and increasing blood pressure above the constriction. Symptoms are generally not present at birth, but they can develop as early as 1 week thereafter. Surgery is necessary if blood pressure is severely high and congestive heart failure develops. Another option is balloon angioplasty. Boys develop this condition twice as often as girls.

Septal defects:

Usually involve a hole in the inner wall, that divides the left and right sides of the heart. This allows blood to flow between the right and left chambers of the heart because there is an opening in the septum. These conditions are often called a 'hole in the heart'.

Atrial septal defect (ASD)- occurs when there is an abnormal opening between the left and right atria. This results in the mixing of oxygenated and deoxygenated blood, leading in more blood flow to the lungs through the right ventricle. Children with ASD often have few symptoms but surgically closing the atrial defect in childhood, can often prevent serious problems later in life. Girls present with ASD twice as often as boys.

Ebstein's anomaly- is often associated with an atrial septal defect. It occurs when there is a downward displacement of the tricuspid valve (found between the upper and lower chambers of the right side of the heart) into the right ventricle (right bottom chamber of the heart). 10% of cases are associated with chronic maternal lithium use. Treatment depends on the severity of symptoms. In some cases, surgery is required early in life. Irregular and fast heartbeats are common symptoms of this condition.

Ventricular septal defect (VSD) - involves a hole between the 2 lower chambers of the heart. As a result, blood from the left ventricle flows back into the right ventricle, due to increased pressure in the left ventricle. In turn, this causes more blood to be pumped into the lungs by the right ventricle, which may cause congestion in the lungs. VSD is one of the most common kind heart defects and involves the following symptoms; trouble eating and gaining weight, breathless and tiredness. Many VSD's close on their own, but larger VSD' usually require surgery. VSD closure is the most commonly performed congenital heart operation; resulting in normal growth, development and life expectancy following repair.

Cyanotic defects:

Cyanosis is a condition in which, blood pumped to the body contains less-than-normal amounts of oxygen, resulting in a blue discoloration of the skin. Infants with cyanotic defects are often called 'blue babies'.

Tetralogy of Fallot- is the most common defect causing cyanosis in persons beyond two years of age and is characterized by 4 defects;

A ventricular septal defect or abnormal opening, allowing blood to flow from the right to the left ventricle, without passing through the lungs.

A stenosis or narrowing, at or just beneath the pulmonary valve, partially blocking the flow of blood from the right side of the heart to the lungs.

An abnormal muscular right ventricle.

The aorta lies directly over the ventricular septal defect.

This condition usually requires open-heart surgery, before the child reaches school going age, in order to close the ventricular septal defect and remove the obstructing muscle. Lifelong follow-up is necessary thereafter.

Tricuspid atresia- is a condition in which there is no tricuspid valve and therefore no blood flow from the right atrium to the right ventricle. This disease is characterized by a small right ventricle, a large left ventricle, diminished pulmonary circulation and cyanosis.

Transposition of the great arteries (TGA/TGV)- is an embryonic defect requiring immediate medical intervention. In this condition, the positions of the pulmonary artery and the aorta are reversed. This is problematic because the aorta originates from the right ventricle, so that most of the blood returning to the heart from the body, is pumped back out without first going to the lungs. Similarly, the pulmonary artery, originates from the left ventricle, so that most of the blood returning from the lungs, goes back to the lungs again. Babies with this condition are extremely blue at birth. 60-70 % of cases, occur among boys. The most common surgical procedure to rectify this problem is called an arterial switch operation, in which the major arteries are 'switched'. The aorta is connected to the left ventricle and the pulmonary artery is connected to the right ventricle.

Other defects:

Hypoplastic left heart syndrome (HLHS)- involves an underdevelopment of the left side of the heart (aorta, aortic valve, left ventricle, mitral valve). Blood reaches the aorta through a patent ductus arterioles and if this ductus closes, the baby will die. The baby may seem normal at birth, but a few days later; they become ashen, have diminished or absent pulses in the legs, breathing difficulties, and are unable to feed, as the ductus closes. Complex surgery (a 3 step surgical procedure known as the 'Norwood Procedure") or a heart transplant are needed. HLHS is one of the top 3 anomalies causing problems in the newborn, occurring in every 10 000 live births.

Patent ductus arteriosis (PDA)- this condition generally occurs during fetal life and is common in premature infants. The defect short circuits the normal pulmonary vascular system, allowing blood to mix between the pulmonary artery and aorta. Before birth, there is an open passageway between the 2 blood vessels, which closes soon after birth. If it does not close, some blood returns to the lungs and it ultimately causes congestive heart failure. PDA occurs twice as often in girls as it does in boys. It is the 6th most common congenital heart defect, affecting between 5-10 % of all children (; Dr. Stoppard, M., 2005;, 2011; Saint Joseph's Hospital, 2006).


There appears to be no known cause for most congenital heart defects. However, drugs such as retinoic acid for acne, chemicals, alcohol, and infections during pregnancy, such as rubella, may play a contributory role in some congenital heart problems. Women with diabetes and phenylketonuria (an inherited liver condition), have an risk of having a child with a congenital heart defect. Excessive alcohol and drug use, as well as certain anticonvulsants and dermatological drugs during pregnancy, can cause congenital heart defects in infants. Approximately 30% of children born with chromosomal abnormalities, such as Down's syndrome and Turner syndrome, suffer from CHD (A.D.A.M., 2011;, 2011).


Minor congenital heart defects may be asymptomatic. If symptoms are present, they vary according to the nature and severity of the heart defect or defects and may include the following;

Abnormal heart sounds can be heard when a doctor listens to the affected child's heart through a stethoscope. Although most heart murmurs are due to high blood flow, some may be due to a congenital heart defect.

Very low blood pressure shortly after birth.

Diminished strength of pulse in the baby.

Shortness of breath or rapid breathing, resulting in feeding difficulties. This occurs because the heart is unable to pump efficiently.

Sweating during feeding.

An inability to thrive, evinced in slow weight gain, poor appetite and growth.

The tongue, mouth and lips may appear bluish in colour. This is known as cyanosis. This occurs in the context of several defects, which prevent blood from circulating effectively through the lungs, so that blood going to the body has low levels of oxygen.

Recurrent lung infections.

Infections of the lining of the heart and a susceptibility to chest infections

Tiredness or fatigue. In older children , fatigue with exercise or on exertion (Dr. Stoppard, M., 2005; Collins, 2003;  Omnimedical, 2011).


Congenital heart defects can be detected by; doing an ultrasound of the infant's heart prior to birth in a high risk pregnancy and by doing a thorough heart examination before the infant leaves the hospital. Pulse oximetry screening has also been suggested as an effective way of detecting heart defects. When the infant visits the paediatrician for the first time, usually 3-5 days after birth, the doctor can perform a thorough heart examination to rule out or diagnose any heart defects. Minor defects rarely cause symptoms and most heart murmurs in children are normal. If the problem is significant, your child will be referred to a paediatric cardiologist, who is trained to diagnose and treat heart defects in infants, children and young adults. They have the necessary expertise and equipment to make an informed decision regarding what tests and treatment your child requires and how often they will need heart check-ups (, 2011; American Heart Association, Inc., 2011).

The tests most commonly used to detect congenital heart defects include;

An electrocardiogram (EKG or ECG) detects and records the electrical activity of the heart, in order to establish the speed of the heart beat and the steadiness or irregularity of rhythm. It can also determine the size of the heart's chambers.

Chest x-rays determine the size of the heart and lungs, and whether there is any extra fluid or blood in the lungs.

Echocardiogram (an ultrasound of the heart) creates a moving picture of the heart using sound waves. The test provides information regarding the structure and functioning of the heart. If a heart defect is suspected in a pre-born baby, a foetal echocardiogram is advised in the 4th or 5th month of pregnancy. Identifying a heart defect before birth, results in improved postnatal management and fetal intervention.

Blood tests (, 2011;, 2009).

If these initial tests fail to provide sufficient information to make a complete diagnosis, your doctor may perform or request;

CT scanning

Magnetic resonance imaging (MRI) designed to assess weaker or damaged parts of the heart and provide a detailed structure of the heart beat.


Pulse Oximetry is used to display the oxygen content in the blood, by affixing a sensor to your child's fingertip and connecting it to a small computer unit.

Cardiac catheterization, is a procedure in which a thin flexible tube (catheter), is passed through a vein in the arm, groin or neck to reach the heart. A dye (that can be seen on x-ray) is then injected through the catheter, so that the doctor can see the blood flow through the heart and blood vessels. This test also checks blood pressure inside the heart and blood vessels and detects the mixing of blood between the left and right sides.

Holter recording

Position Emission Tomography Scan (PET) determines the level of chemical activity in different areas of the heart. A decreased blood flow due to diseased or damaged heart muscles can be detected by this test.

Stress testing (American Heart Association, Inc., 2011;, 2011).


Some congenital heart defects heal on their own and do not require treatment. Approximately 1 in 3 children require surgical intervention or catheter procedures. These children are usually monitored and surgery is performed when they are older and the operation is easier. If children have multiple heart defects, a heart transplant is a possible treatment option. Chest and other infections need to be treated promptly. If a child with a congenital heart defect has dental or other surgery, antibiotics are necessary to prevent an infection of the lining of the heart. In some cases, children with CHD may require medication, such as diuretics, to control the symptoms of their heart defect. In generally, the treatment your child receives depends on the type and severity of their heart defect, as well as their age, size and general health (Dr. Stoppard, M., 2005).

Catheter procedures

Catheter procedures have become the preferred way to repair many simple heart defects, such as atrial septal defect and pulmonary valve stenosis. This procedure is easier on patients as it involves the insertion of a catheter or thin, flexible tube, into an artery or vein; as opposed to opening the chest or operating directly on the heart. As a result, recovery may be quicker and easier (NHLBI, 2011).


Sometimes children need open heart surgery, on one or more occasions, to repair their heart defect/s. Open heart surgery may be performed to; close holes in the heart, with stitches or a patch, repair or replace heart valves, widen arteries or openings to heart valves,  or to repair complex defects, such as problems involving where blood vessels near the heart are situated or how they developed. It is rare for babies to be born with multiple heart defects, that are impossible to repair. These babies may require a heart transplant, in which their heart is replaced by the heart of a deceased child, whose family has donated their organ (NHLBI, 2011).

Foetal intervention

In a few cases, if a heart abnormality is discovered prenatally, foetal intervention may be possible. This may involve opening up an obstructed valve and therefore preventing the abnormal development of the pumping chamber, or treating abnormalities of the foetal heartbeat in utero by administering medication to the pregnant mother (, 2009).


Advances in diagnostic and therapeutic techniques, mean that most children with congenital heart defect, are able to survive into adulthood and lead productive, active lives. However, individual prognosis depends on the type and severity of the defect, and whether suitable treatment is available. Some of the more severe defects, such as those involving the maldevelopment of one of the pumping chambers, may not be correctable after birth or may require a series of open heart surgeries. Even if surgery is successful, they may result in abnormal circulation and life-long limitations. Most patients who are treated for defects will require lifelong cardiac monitoring (Imaginis corporation, 2011;, 2009).


Avoid alcohol and other drugs during pregnancy. Some prescription, over-the-counter and street drugs, may increase your child's risk of developing a heart defect. Always inform doctors that you are pregnant.

If you are diabetic, ensure that your sugar levels are well controlled. Poorly controlled blood sugar levels during pregnancy, have been associated with a high rate in congenital heart defects.

A blood test should be performed in early pregnancy, to see if a woman is immune to rubella. If she is not, all precautions should be taken to avoid possible exposure to rubella and the mother should be immunized immediately after delivery.

Genetics appears to play a role in many heart diseases and multiple family members may be affected. If there is a familial history of CHD, talk to your health care provider about screening.

Good prenatal care is essential for expectant mothers and many CHD are discovered during routine ultrasound examinations. If a problem is identified, the delivery can be anticipated and appropriate medical personnel (paediatric cardiologist, cardiothoracic surgeon, and a neonatologist), can be present and available to help if necessary. This preparation may be a matter of life and death for some babies (A.D.A.M., 2011).