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Congenital Heart Defects
What is it?
Any heart abnormality, whether major or minor present at
birth, falls into this category.
Causes:
With the majority of cases, there is little to suggest the
causes, however it is believed that certain infections present
in the mother while pregnant, such as German measles, some
chemicals and drug and alcohol abuse may all contribute towards
heart defects in her unborn child.
Susceptibility
Those children born of mothers who contracted German measles
while pregnant, and children who suffer with a chromosomal
disorder, such as Down's syndrome.
Related Symptoms:
Because of a weakened heart, the child will most likely have
difficulty in breathing and sucking, which will result in poor
weight gain.
Treatment:
Ultrasound scanning is usually effective in noting such
abnormalities before the birth, where appropriate drugs will be
prescribed. Surgery following the birth, will usually remedy the
problem.
Outlook:
With the correct treatment, many sufferers do go on to lead a
normal life, however this depends entirely on the severity of
the problem.
Hole in the Heart
This is present when there is a hole between the atria or
ventricles through which blood flows. Holes between the top and
bottom chambers of the heart (Atrial holes), are more common in
girls than in boys. Openings between the right and left side of
the heart (Ventricular holes), are the most common of the two,
accounting for nearly 50% of all heart abnormalities.
The exact cause of this defect is unknown, and is usually only
detected once the child is around a month old.
Related Symptoms:
In very mild cases, the child will not show any obvious
symptoms, with the problem normally only being detected upon
examinations for other reasons. Severe forms, where the hole is
larger, is usually accompanied by swelling of the hands and
feet, slow feeding resulting in poor weight gain and difficulty
in breathing.
Treatment:
A chest X-ray and/or possibly an ECG (electrocardiograph)
will be performed in order to establish the severity of the
problem. If a major problem exists, further more thorough tests
will be carried out, and the hole will need to be surgically
closed. Milder symptoms will be treated with drugs, which will
strengthen the heartbeat and lessen the strain placed on the
heart. Small ventricular holes do tend to close on their own, so
treatment in this case is not always necessary.
Valve Abnormalities
There are two types of valve abnormalities namely: stenotic
(narrowed valves) and incompetent (leaking valves). In milder
cases the heart will function normally, although a murmur will
be present. More severe forms, will mean that the heart has to
work harder to sustain blood circulation. This extra work-load
will cause the heart to become enlarged, eventually resulting in
heart failure.
Related Symptoms:
Heart murmurs and high blood-pressure are common symptoms.
Treatment:
Leaking valves can be corrected through surgery, where the
valve will either be repaired or replaced with an artificial
one. Severe narrowed valves will be 'stretched' via a surgical
procedure. Drug treatment used in milder cases, can usually
improve the problem.
Patent Ductus
Before birth, a special blood vessel (ductus arteriosis) is
present in the baby. The function of this blood vessel is to
bypass the lungs, as these are not needed until your baby begins
breathing on her own. Within a couple of hours after the birth,
increased oxygen in the blood will signal shut-down, and blood
will then pass from the heart through the lungs. If however, the
ductus fails to close, blood will flow through it into the
pulmonary artery, with too much blood flowing through the lungs.
Related Symptoms:
The increased amount of blood flowing through the lungs will
cause congestion and will be heard as a murmur, which in mild
cases will be very soft and the child will usually be perfectly
fine. In extreme cases, the child will have difficulty in
breathing, her liver will be enlarged and her heart rate will be
rapid. Chest infections are also common.
Treatment:
With early diagnosis and drug treatment, surgery will usually
not be necessary. However, if the problem is only noticed at a
later stage a minor operation will be needed to close the ductus.
The child will recover completely in minimal time.
Fallot's Tetrology
This is a combination of heart defects, namely: a misplaced
aorta, a ventricular hole in the heart, a narrowing of the
pulmonary valve and a thickening of the right ventricle. These
abnormalities cause the blood to be passed from the right side
to the left side of the heart, and without passing through the
lungs, it passes straight into the general circulation of the
body.
Related Symptoms:
Often referred to as 'blue-babies' because of the bluish tinge
to their skin. Difficulty in breathing, underdevelopment and
clubbing of the fingers and toes are all common symptoms in
babies with this disorder.
Treatment:
In the initial stages, drugs will be prescribed to offer some
relief. When the child is a few years old, surgery will be
needed to correct all the abnormalities.
Sickle Cell Disease
What is it?
A form of anaemia in which red blood cells are abnormally
shaped, thus resulting in hampered efficiency when transporting
oxygen to the body cells.
Causes:
Infection, stress, dehydration and hyperventilation can all
trigger a periodic attack.
Susceptibility:
People of African, Middle-Eastern and Mediterranean heritage are
most likely to be affected. If both parents are carriers of the
disease, the risk is 1 in 4, and 4 in 4 if both parents are
sufferers. Up to 2000 out of every 100 000 births to people who
are at risk.
Related Symptoms
Fatigue, painful swelling of the joints and shortness of breath
are common in the initial stages, however these will only
present themselves after the age of six months. Growth will be
affected, with the spine taking on a curved shape. Puberty will
be delayed, and the sufferer will be susceptible to other
infections.
Treatment:
Pain relievers, oxygen fluids and antibiotics to control
infection.
Outlook:
Premature death is common, as many do not reach adulthood.
Tay Sach's Disease
What is it?
A congenital deficiency of an enzyme needed for effective
breaking-down of fatty deposits in the brain and nerve cells.
Causes:
Both parents must pass on recessive genes for a child to be
affected.
Susceptibility:
People of Central and Eastern European heritage are the most
likely carriers of this disease. Approximately 1 in 3,600
Eastern European babies are affected.
Related Symptoms:
Once the fatty deposits begin to clog the cells, the child takes
on a form of regression by losing her ability to grasp, crawl
and smile. Gradually the eyesight will diminish and the child
will become paralyzed and unaware of her surroundings.
Treatment:
There is no known treatment as yet, although scientists are
working on ideas to replace the missing enzyme. Those who are at
risk should opt for effective antenatal screening, which could
offer the option of terminating the pregnancy.
Outlook:
Unfortunately, this disease is invariably fatal, and most
sufferers will die before their fifth birthday.
Rhesus Disease
What is it?
A condition in which the child inherits a blood-type from the
father, that is not compatible with the mother's
Causes:
Antibodies from the mother's blood attack the baby's blood
cells.
Susceptibility
Those babies, receiving Rh-positive blood from the father, when
the mother's blood is Rh-negative.
Related Symptoms:
Brain damage, or death, during gestation or following birth.
Treatment:
Effective monitoring is essential for pregnant women who are
Rh-negative. An injection of a vaccine called Rh immune
globulin, given to the mother within 72 hours of the birth,
miscarriage or abortion and is the best preventative measure,
against future babies suffering with the condition. Due to
severe anaemia, a blood transfusion of the baby may be
necessary.
Outlook:
Usually good with treatment.
Thalassaemia
What is it?
A disease of the blood, also commonly known as Mediterranean
anaemia, where there is a defect in the process required, for
the formation of the oxygen-carrying red blood cells.
Causes:
Both parents have to pass on a recessive gene, for the child
to be affected.
Susceptibility
More common in those of a Mediterranean heritage.
Related Symptoms:
Those with a less severe form can lead normal lives, although
stress may aggravate the condition, and the person will suffer
with general weakness and nausea. Without treatment, severe
cases can be fatal, with common symptoms such as, enlargement of
certain internal organs, brittle bones and heart failure.
Treatment:
Blood transfusions and occasionally bone marrow transplants
will be necessary for those suffering from a severe case.
Outlook:
The prognosis is good for those with the less severe form,
although there may be a delay in puberty. Children with a severe
form, will always face the risk of infection and premature heart
failure.
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