Miomio, Juliet Marie L.

BSN-2D NCM

WHAT ARE THE TYPES OF HEART DEFECTS?

HEART DEFECTS INCLUDE:
1. Aortic stenosis - Aortic valve stenosis causes a thickening and narrowing of the
valve between the heart's main pumping chamber (left ventricle) and the body's
main artery (aorta). The narrowing creates a smaller opening for blood to pass
through, reducing or blocking blood flow from the heart to the rest of the body. The
most common cause of aortic stenosis is the accumulation of calcium deposits on
the aortic valve, which increases with age. Severe symptomatic aortic stenosis is
associated with a poor prognosis, with most patients dying 2–3 years after
diagnosis.

2. Atrial septal defect (ASD) - An atrial septal defect is a birth defect of the heart in
which there is a hole in the wall (septum) that divides the upper chambers (atria)
of the heart. A hole can vary in size and may close on its own or may require
surgery. An atrial septal defect is one type of congenital heart defect. A large, long-
term atrial septal defect can damage the heart and lungs. Surgery may be needed
to repair an atrial septal defect and to prevent complications.
There are four major types of atrial septal defects:

● Ostium secundum atrial septal defect. This is the most common atrial
septal defect, affecting over two-thirds of people with atrial septal defects. It
is caused when a part of the atrial septum fails to close completely while the
heart is developing. This causes an opening to develop in the center of the
wall separating the two atria.
● Ostium primum atrial septal defect. This defect is part of atrioventricular
canal defects and is associated with a split (cleft) in one of the leaflets of the
mitral valve.
● Sinus venosus atrial septal defect. This defect occurs at the superior vena
cava and right atrium junction in the area where the right pulmonary veins
 enter the heart. As a result, the drainage of one or more of the pulmonary
veins may be abnormal in that the pulmonary veins drain to the right atrium,
rather than the left atrium.
● Coronary sinus atrial septal defect. This defect is located within the wall
of the coronary sinus, where it passes behind the left atrium. The coronary
sinus carries the blood flow from the heart's own vein, into the right atrium. It
is the rarest of all atrial septal defects.
What causes atrial septal defect in children?
The heart is forming during the first eight weeks of prenatal development. It begins as a
hollow tube, then partitions within the tube develop that eventually become the septa (or
walls) dividing the right side of the heart from the left. Atrial septal defects usually occur
when the partitioning process does not occur completely, leaving an opening in the atrial
septum. Some congenital heart defects may have a genetic link, either occurring due to
a defect in a gene, a chromosome abnormality or environmental exposure, causing heart
problems to occur more often in certain families. Most atrial septal defects occur
sporadically (by chance), with no clear reason for their development.

What is the life expectancy of someone with atrial septal defect?

Several patients tolerate large unrepaired defects for 80 years or even longer without
serious disability. However, it is assumed that, as a rule, atrial septal defect reduces life
expectancy, the average age at death not exceeding 50 years.

3. Atrioventricular canal defect

Congenital heart defects of the atrioventricular canal are a form of congenital heart
defect. Atrioventricular canal defect is characterized by a hole in the wall separating the
chambers of the heart as well as difficulties with the heart valves. The disorder might be
partial, affecting only the two upper chambers, or total, affecting all four chambers.

These signs and symptoms are generally similar to those associated with heart
failure and might include:

● Difficulty breathing or rapid breathing.

 ● Wheezing.
● Fatigue.
● Lack of appetite.
● Poor weight gain.
● Pale skin color.
● Bluish discoloration of the lips and skin.
● Excessive sweating.
Surgery is needed to repair a complete or partial atrioventricular canal
defect. More than one surgery may be needed. Surgery to correct atrioventricular canal
defect involves using one or two patches to close the hole in the heart wall.

4. Coarctation of the aorta

Aortic coarctation is a narrowing or constriction of a section of the aorta. The illness

causes the heart to work harder in order to push blood through the aorta and into the rest
of the body. The aorta is your body's biggest artery. It transports oxygen-rich blood from
the heart to the rest of the body.

Signs or symptoms of coarctation of the aorta after infancy commonly include:

● High blood pressure.

● Headaches.
● Muscle weakness.
● Leg cramps or cold feet.
● Nosebleeds.
● Chest pain.
There are three types of aortic coarctations:

● Preductal coarctation: The narrowing is proximal to the ductus arteriosus.

● Ductal coarctation: The narrowing occurs at the insertion of the ductus arteriosus.
● Postductal coarctation: The narrowing is distal to the insertion of the ductus
arteriosus.
5. Ebstein Anomaly - Ebstein anomaly is a congenital malformation of the heart that is
characterized by apical displacement of the septal and posterior tricuspid valve leaflets,
leading to atrialization of the right ventricle with a variable degree of malformation and
displacement of the anterior leaflet.

Anomaly means "something different." In Ebstein anomaly, the "something different"

is the position of the tricuspid valve and the way its parts move.

In Ebstein anomaly, the valve is sunken into the right ventricle, and one or two of its
leaflets are stuck to the heart wall. The third leaflet is usually floppy. This prevents the
valve from working well. Often, the valve can't close completely, so blood leaks back
through the tricuspid valve into the right atrium. When a lot of blood leaks back, this
enlarges the right atrium and makes the right ventricle smaller.

Patients can have a variety of symptoms related to the anatomic abnormalities of Ebstein
anomaly and their hemodynamic effects or associated structural and conduction system
disease, including the following:

● Cyanosis
● Fatigue and dyspnea
● Palpitations and sudden cardiac death
● Symptoms of right heart failure, such as edema and ascites

6. Hypoplastic Left Heart Syndrome- Hypoplastic left heart syndrome (HLHS) is a

severe congenital heart defect in which the left side of the heart is underdeveloped. In
hypoplastic left heart syndrome, the left ventricle is too small. The aorta, which takes the
blood to the body, is small too. The heart can’t pump enough blood to the body.
Hypoplastic left heart syndrome consists of hypoplasia of the left ventricle and
ascending aorta, maldevelopment and hypoplasia of the aortic and mitral valves
(frequently aortic atresia is present), an atrial septal defect, and a patent ductus
arteriosus. Unless normal closure of the patent ductus arteriosus is prevented with
prostaglandin infusion, cardiogenic shock and death ensue. A loud, single 2nd heart
sound (S2) and nonspecific systolic murmur are common.

HLHS is a birth defect that happens when a baby is growing in the womb. No one knows
exactly what causes it, but it could have a mix of causes, including a baby's genes (DNA).
Doctors sometimes can diagnose hypoplastic left heart syndrome before a baby’s birth if
the problem is seen on the mother’s prenatal ultrasound scan.

A baby born with hypoplastic left heart syndrome may have:

● fast breathing
● blue or grayish coloring of the skin and nails
● trouble feeding
● low energy and activity
● fewer than normal wet diapers

7. Patent ductus arteriosus (PDA) is a persistent opening between the two major blood
vessels leading from the heart. The opening (ductus arteriosus) is a normal part of a
baby's circulatory system in the womb that usually closes shortly after birth. If it remains
open, it's called a patent ductus arteriosus. It occurs because a normal fetal connection
between the aorta and the pulmonary artery does not close as it should after birth. PDA
happens most often in premature infants. It often occurs with other congenital heart
defects. A small PDA may close on its own as your child grows.

The Signs and Symptoms of Patent Ductus Arteriosus:

● Fast breathing, working hard to breathe, or shortness of breath. Premature

infants may need increased oxygen or help breathing from a ventilator.
● Poor feeding and poor weight gain.
● Tiring easily.
● Sweating with exertion, such as while feeding.
The life expectancy is simply patent ductus arteriosus with a normal or only slightly
elevated pulmonary arterial pressure was associated with an estimated life expectancy
of 25 years before the era of cardiac surgery and antibiotics. It is important to correct
PDA because it can lead to congestive heart failure and a disease of the right side of
the heart (called cor pulmonale) later in life. PDA also increases the risk of endocarditis,
a life-threatening infection of the lining that covers the heart chambers, valves, and main
arteries.

8. A patent foramen ovale (PFO) is a small opening between the two upper chambers
of the heart, the right and the left atrium. Normally, a thin membranous wall made up of
two connecting flaps separates these chambers. No blood can flow between them.
● The cause of a PFO is unknown. There are no known risk factors. It can be found
along with other heart abnormalities such as atrial septal aneurysms or Chiari
network.
● A patent foramen ovale is a small, flap-like opening in the wall between the right
and left upper chambers of the heart. It usually causes no signs or symptoms and
rarely requires treatment. Generally, a patent foramen ovale (PFO) doesn't cause
complications.
● Thanks to advances in pediatric congenital care, the life expectancy for most
patients now reaches far into adulthood, but more than 60% stop seeing a
cardiologist once they turn 18.

9. Pulmonary Atresia - A congenital heart defect in which the pulmonary valve does not
develop normally or remains blocked after birth. It occurs during the first eight weeks of
development. Instead of opening and closing to allow blood to travel from the heart to the
lungs, a solid sheet of tissue forms. Some blood travels to the lungs through other natural
passages within the heart and its arteries. These passages are necessary when a baby
is developing in the womb, and they typically close soon after birth. Babies with pulmonary
atresia typically have a bluish cast to their skin because they aren't getting enough
oxygen.
 The exact cause of pulmonary atresia is unknown. Genetic factors, such as an
abnormal gene or chromosomal defect, may increase the chances of heart defects in
certain families.
Symptoms:
● Rapid breathing
● A bluish tinge to the skin, especially the lips, fingers and toes
● Cool, pale or clammy skin
● Breathing problems
● Fatigue or tiredness
● Irritability
● Poor feeding

10. Pulmonary Stenosis - A congenital defect that occurs due to abnormal development
of the prenatal heart during the first eight weeks of pregnancy. A narrowing of the valve
located between the lower right heart chamber (right ventricle) and the lung arteries
(pulmonary arteries). In a narrowed heart valve, the valve flaps (cusps) may become thick
or stiff. This reduces blood flow through the valve.

Different types of pulmonary stenosis:

● Valvar pulmonary stenosis. The valve leaflets are thickened and/or narrowed
● Supravalvar pulmonary stenosis. The pulmonary artery just above the pulmonary
valve is narrowed
● Subvalvar (infundibular) pulmonary stenosis. The muscle under the valve area is
thickened, narrowing the outflow tract from the right ventricle
● Branch peripheral pulmonic stenosis. The right or left pulmonary artery is
narrowed, or both may be narrowed

The exact cause is unclear. The pulmonary valve doesn't develop properly as the baby is
growing in the womb.
Symptoms:
● A whooshing sound (murmur) that can be heard with a stethoscope
 ● Fatigue
● Shortness of breath, especially during activity
● Chest pain
● Loss of consciousness (fainting)

11. Tetralogy of Fallot (TOF)- a birth defect that affects normal blood flow
through the heart. It happens when a baby’s heart does not form correctly as the
baby grows and develops in the mother’s womb during pregnancy. This heart
defect can cause oxygen in the blood that flows to the rest of the body to be
reduced. Infants with tetralogy of Fallot can have cyanosis, because their blood
doesn’t carry enough oxygen. At birth, infants might not have blue-looking skin, but
later might develop sudden episodes of bluish skin during crying or feeding.

Tetralogy of Fallot is made up of four defects of the heart and its blood vessels:

1. A hole in the wall between the two lower chambers―or ventricles―of the
heart. This condition also is called a ventricular septal defect.

2. A narrowing of the pulmonary valve and main pulmonary artery. This

condition also is called pulmonary stenosis.

3. The aortic valve, which opens to the aorta, is enlarged and seems to open
from both ventricles, rather than from the left ventricle only, as in a normal
heart. In this defect, the aortic valve sits directly on top of the ventricular
septal defect.

4. The muscular wall of the lower right chamber of the heart (right ventricle) is
thicker than normal. This also is called ventricular hypertrophy.

12. Transposition of the great arteries- Transposition of the great arteries (TGA)
is a serious, rare heart problem in which the two main arteries leaving the heart
 are reversed (transposed). The condition is present at birth (congenital heart
defect). Transposition of the great arteries (TGA) is a congenital pediatric cardiac
defect arising from an embryological discordance between the aorta and
pulmonary trunk. Consequently, the aorta arises from the right ventricle and the
pulmonary trunk arises from the left ventricle thus creating two parallel circuits
incompatible with life
1. Complete transposition of the great arteries, also called dextro-
transposition of the great arteries (D-TGA), causes a shortage of oxygen-
rich blood to the body. Symptoms are usually noticed during pregnancy,
immediately after birth or within a few weeks of birth. Without treatment,
serious complications or death can occur.
2. Congenitally corrected transposition, also called levo-transposition of
the great arteries (L-TGA), is a less common type of this condition.
Symptoms may not be noticed right away. Treatment depends on the
specific heart defects.

13. Tricuspid atresia - a heart defect present at birth (congenital) in which a valve
(tricuspid valve) between two of the heart's chambers isn't formed. Instead, there's solid
tissue between the chambers, which restricts blood flow and causes the right lower heart
chamber (ventricle) to be underdeveloped. Tricuspid atresia occurs during fetal heart
development. Some genetic factors, such as Down syndrome, might increase your baby's
risk of congenital heart defects such as tricuspid atresia, but the cause of congenital heart
disease is usually unknown. A life-threatening complication of tricuspid atresia is a lack
of oxygen to your baby's tissues (hypoxemia).

Symptoms of Tricuspid atresia are:

● Difficulty breathing
● Tiring easily, especially during feedings
● Slow growth and poor weight gain
● Blue tinge to the skin and lips (cyanosis)
 ● Fatigue and weakness
● Shortness of breath
● Swelling (edema) in the legs, ankles and feet
● Swelling of the abdomen (ascites)
● Sudden weight gain from fluid retention

14. Truncus arteriosus - Truncus arteriosus (TRUNG-kus ahr-teer-e-O-sus) is a rare

heart defect that's present at birth (congenital). If you or your baby has truncus arteriosus,
it means that one large blood vessel leads out of the heart. Normally, there are two
separate vessels coming out of the heart. In addition, there is usually a hole — known as
a ventricular septal defect — between the two lower chambers of the heart. As a result of
truncus arteriosus, oxygen-poor blood that should go to the lungs and oxygen-rich blood
that should go to the rest of the body are mixed. This creates severe circulatory problems.
Truncus arteriosus occurs when your baby's heart is developing in the womb, and is,
therefore, present at birth (congenital). The abnormal heart structures of truncus
arteriosus result in severe problems with blood circulation. Because the ventricles aren't
separated and all blood exits from a single vessel, the oxygen-rich blood and the oxygen-
poor blood mix — resulting in blood that doesn't carry enough oxygen. The mixed blood
flows from the single large vessel to the lungs, the arteries of the heart and the rest of the
body.

Symptoms of Truncus arteriosus:

● Blue coloring of the skin
● Poor feeding
● Pounding heart
● Excessive sleepiness
● Poor growth
● Shortness of breath
● Rapid breathing
15. A ventricular septal defect (pronounced (VSD) is a birth defect of the heart in which
there is a hole in the wall (septum) that separates the two lower chambers (ventricles) of
the heart. This wall also is called the ventricular septum.

 The most common cause of a VSD is a congenital heart defect, which is a defect
from birth. Some people are born with holes already present in their heart. They
may cause no symptoms.
 Approximately 90% of VSDs will close on their own by the time a person turns 6
years old. Most of the remaining 10% of VSDs will close by age 20. However, a
VSD is unlikely to close on its own after that.

SYMTOMS:
 Shortness of breath.
 Fast breathing.
 Hard breathing.
 Paleness.
 Failure to gain weight.
 Fast heart rate.
 Sweating while feeding.
 Frequent respiratory infections.