Congenital Heart Defects

CONGENITAL HEART DISEASE Trisomy 18 Edward’s syndrome

• a genetic disorder in which a person has a
third copy of material from chromosome 18,
 Congenital heart disease (or defects) (CHD)
instead of the usual 2 copies
is one of the most common forms of
• Survival Rate: Between 60% and 75%
congenital anomalies.
survive to their first week. Between 20% and
 It involves the chambers, valves, and great
40% survive to their first month. No more than
vessels arising from the heart
10% survive past their first year
 In most cases, the cause of CHD is not
known/idiopathic. Trisomy 13 Patau syndrome
 Some infants and children with CHD may • a serious rare genetic disorder caused by
appear perfectly healthy, whereas others may having an additional copy of chromosome 13
be critically ill. in some or all of the body's cells
 Most infants and children with CHD can be • Survival Rate: Half of babies born with
successfully managed with medications and Trisomy 13 live longer than two weeks
surgeries. and fewer than 10% will survive the first year
ETIOLOGY AND INCIDENCE of life. Approximately 13% survive until 10
years of age
 CHD affects 8 to 12 of every 1,000 neonates.
 Exact cause of CHD is unknown in 90% of Syndromes that include CHD:
cases.  Marfan's syndrome:
 Associated factors for CHD include: o a genetic condition that affects connective
o Fetal or maternal infection during the first tissue, which provides support for the body
trimester (Rubella- German Measles) and organs. Marfan syndrome can damage
o Chromosomal abnormalities (trisomy 21, the blood vessels, heart, eyes, skin, lungs,
18, 13). and the bones of the hips, spine, feet, and
o Maternal insulin-dependent diabetes (toxic rib cage
effects on the development of the embryo) o Mitral valve prolapse (MVP), dilated
o Teratogenic effects of drugs and alcohol. aortic root.
 Turner's syndrome:
Note: o a condition that affects only
 Rubella (German Measles) is a females, results when one of the X
contagious disease caused by a virus chromosomes (sex chromosomes) is
 Rubeola (measles) – mas severe missing or partially missing.
o Aortic valve stenosis (AVS), coarctation
Trisomy 21 Down syndrome
of the aorta (CoA).
• Also known as Down syndrome, trisomy 21 is
a genetic condition caused by an extra
COMMON CONGENITAL HEART
chromosome in pair 21.
• atrioventricular (AV) canal defect, ventricular MALFORMATIONS
septal defect (VSD); About 50% of children
with Down Syndrome Congenital heart defects can be classified
• Survival Rate: Adults with Down syndrome into four categories:
may live about 60 years
1. Increased pulmonary blood flow
2. Obstruction to blood flow (out of the
heart)
3. Mixed blood flow (oxygenated and
Congenital Heart Defects
deoxygenated blood mixing in the heart or  ASD 1 (ostium primum): Opening
great vessels) is at the lower end of the septum.
4. Decreased pulmonary blood flow (10% of cases)
 ASD 2 (ostium secundum):
1. DEFECTS WITH Opening is near the center of the
INCREASED PULMONARY septum (90% of cases)
BLOOD FLOW  ASD 3 (sinus venosus defect):
Opening is near the junction of the
 Involves blood flow from the left side of superior vena cava and the right
the heart (greater pressure) to the right side atrium.
(less pressure) through some abnormal
opening or connection between the two
systems or the great arteries.

Defects:
A. ASD (Atrial Septal Defect)
B. VSD (Ventricular Septal Defect)
C. AVC (Atrioventricular canal)
D. PDA (Patent Ductus Arteriosus)

A. ATRIAL SEPTAL DEFECT

 Abnormal opening between the
atria that causes an increased flow
of oxygenated blood to the right
side of the heart
 Right atrial and ventricular
enlargement occur.
 Infant may be asymptomatic or
may develop CHF.
 Associated with septum doesn’t
close after birth; fetal alcohol
syndrome
 Systolic with Splitting murmur is
present
 Acyanotic Heart Defect Assessment
 Complication: Paradoxixal o Asymptomatic
Ebolism (Blood Clot)
o Prone to RTI
 Small Openings may be closed;
o Dyspnea on mild exertion
Large openings will be patched or
o May develop CHF
plug
 the average age at death not o Feeding difficulties
exceeding 50 years o S/SX of decrease cardiac output
o Decreased peripheral pulses
Types of ASD o Exercise intolerance
o Feeding difficulties
o Hypotension
o Irritability, restlessness, lethargy
Congenital Heart Defects
o Oliguria
o Pale, cool extremities 
o Tachycardia MANAGEMENT

MANAGEMENT 2. Surgical treatment:

1. Nonsurgical treatment: Open repair with cardiopulmonary bypass

The defect may be closed during a cardiac usually is performed before school age.
catheterization. A thin, flexible tube (a catheter)
is inserted into a blood vessel in the leg that leads B. VENTRICULAR SEPTAL DEFECT
to the heart.   Abnormal opening between the right &
left ventricles
 Many VSDs close spontaneously during
the first year of life in children having
small or moderate defects.
 A characteristic Holosystolic murmur is
present.
 Most common congenital heart defect
but (30-50% cases close spontaneously
during childhood)
Less common in adults
 Associated with Fetal Alcohol
 Syndrome and Down Syndrome
 Patient may present cyanosis (bluish
skin, lips, fingertips due to Eisenmenger
Syndrome- where right to left shunting
happens)
 Only about 42% of these individuals
will be alive at least 25 years

Clinical Manifestations

 Small VSD
usually asymptomatic; high spontaneous
closure rate during the first year of life.
 Large VSDs.
 Congenital Heart Defects
CHF: tachypnea, tachycardia, excessive sweating C. ATRIOVENTRICULAR SEPTAL
associated with feeding, hepatomegaly DEFECT
Frequent URIs
 The defect results from incomplete fusion
Poor weight gain, failure to thrive.
of the septum separating the chambers of
Feeding difficulties.
the heart
Decreased exercise tolerance.
 The defect is the most common cardiac
defect in Down syndrome.
MANAGEMENT A characteristic murmur is present.
life expectancy may be 20-50 year
1. Small VSD  The infant usually has mild to moderate
Medical management: CHF, with cyanosis increasing with
Usually no anti-congestive therapy is needed. crying.
Infective endocarditis prophylaxis for 6 months  Signs and symptoms of decreased cardiac
after surgical implantation of a ventricular output may be present.
occlusion device.  Problems in breathing, easily tired,
Cardiac catheterization for placement of sweating, fast heartbet, chest congestion,
ventricular occlusion device for muscular poor feeding, poor weight gain
defects  The treatment of choice for an incomplete
Surgical intervention is usually not necessary. or complete atrioventricular septal
defect (AVSD) is complete surgical repair
2. Moderate to Large VSD  Surgical treatment can include pulmonary
 Medical Management: artery banding for infants with severe
 CHF management: digoxin and diuretics symptoms (palliative) or complete repair
(furosemide, spironolactone) and afterload via cardiopulmonary bypass.
reduction.
 Avoid oxygen; oxygen is a potent pulmonary
vasodilator and will increase blood flow into
the PA.
 Increase caloric intake: fortify formula or breast
milk to make 24 to 30 cal/oz formula;
supplemental nasogastric feeds as needed.
Infective endocarditis prophylaxis for 6 months
after surgery/ventricular device occludes.

Moderate to Large VSD

 Cardiac catheterization for placement of a
ventricular occlusion device for muscular
defects
 Refer for surgical intervention. D. PATENT DUCTUS ARTERIOSUS
Usually repaired before age 1  Ductus Arteriosus closes after birth; it
 One-stage approach: preferred surgical plan; become ligamentum arteriosum (after 3
patch closure of VSD weeks)
 Two-stage approach: first surgery is to band the  failure of fetal ductus arteriosus to close
PA to restrict pulmonary blood flow; second within the first weeks of life
surgery is to patch close the VSD and remove  10% of all Congenital Heart Defects
the PA band  90% isolated cases
Congenital Heart Defects
 10% associated with other condition o The defect may be closed during cardiac
mothers exposed to rubella during catheterization or the defect may require
pregnancy (congenital rubella syndrome) surgical management through surgical
ligation

2. OBSTRUCTIVE DEFECTS
Assessment:
o No deoxygenated blood back to the body
ACYANOTIC (left to right shunting of o Blood exiting a portion of the heart meets
blood) an area of anatomical narrowing
o Machinery like murmur (Gibson’s (stenosis), causing obstruction to blood
Murmur) flow.
o Asymptomatic o The location of narrowing is usually near
o Signs of CHF the valve of the obstructive defect.
Infants and children exhibit signs of CHF.
o Prominent radial pulses
Children with mild obstruction may be
o Signs of decreased cardiac output
asymptomatic.
When there is increased pulmonary volume it will
Defects:
cause pulmonary hypertension causing very high
1. Aortic stenosis
pressure (EISENMENGER SYNDROME)- right
2. Coarctation of the aorta
to left shunt
3. Pulmonary stenosis
o Deoxygenated blood goes to the lower
extremities
o Bluish to purple discoloration in lower
A. AORTIC STENOSIS
extremities (differential cyanosis since the
lower part of the body is cyanotic) o Aortic stenosis is narrowing or stricture of
o A small patent ductus arteriosus often the aortic valve causing:
doesn't cause problems and might never 1. resistance to blood flow in the left
need treatment. ventricle
o However, a large patent ductus arteriosus 2. decreased cardiac output
left untreated can allow poorly oxygenated left ventricular hypertrophy; and
blood to flow in the wrong direction, 3. pulmonary vascular congestion
weakening the heart muscle and causing
heart failure and other complications o Valvular stenosis is the most common type
o After closure of the PDA, most children and usually is caused by malformed cusps
have a normal life or fusion of the cusps.
o A characteristic murmur is present.
MANAGEMENT Acyanotic heart defect
o Infants with severe defects demonstrate
o Medical: Indomethacin (Indocin) –
signs of decreased cardiac output.
NSAID which is a prostaglandin E2
o Children show signs of exercise
inhibitor, may be administered to close a
patent ductus in premature infants and intolerance, chest pain, and dizziness when
some newborns standing for long periods of time.
o Ibuprofen as effective as indomethacin in o Non-surgical treatment for valvular aortic
closing a PDA. stenosis is done during cardiac
o Prostaglandin E2 (keeps the Ductus catheterization to dilate the narrowed
valve.
Arteriosus open)
Surgical treatment :
Congenital Heart Defects
1. aortic valvotomy (palliative);
2. a valve replacement may be required at
a second procedure.
o Without treatment, a person's life
expectancy with aortic stenosis after
symptoms develop is 1–3 years. Around
50–68% of symptomatic people die within
2 years
o Median survival time was 10.9 years

ASSESSMENT
 Absent femoral pulses –
pathognomonic sign
 BP
COARCTATION OF AORTA  Higher in upper extremities –
headache; epistaxis; pulses are
o Coarctation of the aorta is localized
rapid & bounding
narrowing near the insertion of the ductus
 Lower in lower extremities –
arteriosus.
leg pains, cold feet, muscle
o A birth defect in which a part of the aorta,
spasms; pulses are weak,
the tube that carries oxygen-rich blood to
delayed or absent
the body, is narrower than usual.
 Myocardial hypertrophy
o The blood pressure is higher in the upper
extremities than the lower extremities; MANAGEMENT
bounding pulses in the arms, weak or
absent femoral pulses, and cool lower  Nonsurgical treatment is balloon
extremities may be present. angioplasty in children; restenosis can
occur.

Surgical:
1. Resection of the coarcted portion with
end-to-end anastomosis of the aorta or
enlargement of the constricted section
using a graft may be required.
2. Because the defect is outside the heart,
cardiopulmonary bypass is not required
and a thoracotomy incision is used.
Congenital Heart Defects
 done during cardiac catheterization to dilate
the narrowed valve.
Surgical treatment
 In Infants trans-ventricular (closed)
valvotomy procedure
 In children, pulmonary valvotomy with
cardiopulmonary bypass.

PULMONARY STENOSIS

 Pulmonary stenosis is narrowing at the

entrance to the pulmonary artery
Resistance to blood flow causes right ventricular
hypertrophy and decreased pulmonary blood 3. DEFECTS WITH DECREASED
flow PULMONARY BLOOD FLOW
 Pulmonary atresia is the extreme form of
pulmonary stenosis in that there is total fusion  Obstructed pulmonary blood flow and an
of the commissures and no blood flows to the anatomical defect (ASD or VSD) between
lungs. the right and left sides of the heart are
 a birth defect of the heart where the valve present.
that controls blood flow from the heart to the  Pressure on the right side of the heart
lungs doesn't form at all increases, exceeding pressure on the left
 In babies with this defect, blood has trouble side, which allows desaturated blood to
flowing to the lungs to pick up oxygen for  shunt right to left, causing desaturation in
the body the left side of the heart and in the
 A characteristic murmur is present systemic circulation.
The infant or child may be asymptomatic.  Typically hypoxemia and cyanosis appear.
Newborns with severe narrowing will be 1. Tetralogy of Fallot
cyanotic. 2. Tricuspid Atresia
 If pulmonary stenosis is severe, CHF occurs.
decreased cardiac output may occur A. TETRALOGY OF FALLOT
Nonsurgical treatment:
Congenital Heart Defects
 The tetralogy of Fallot includes four heart o Acute episodes of cyanosis and hypoxia
defects/abnormalities: (hypercyanotic spells), called blue spells
A. Pulmonary Stenosis or tet spells, occur when the infant's
B. Right Ventricular Hypertrophy oxygen requirements rapidly drop, such as
C. VSD during periods of crying, feeding, or
D. Overriding Aorta defecating.

Cause:
1. Unclear/ Unkwon
2. Associated with deletion of
Chromosome 22
3. DiGeorge Syndrome Children
 Most common congenital heart defect o With increasing cyanosis, squatting,
 Accounting for about 50%-70% clubbing of the fingers, and poor growth
 Cyanotic Heart Defect (O2 saturation may occur.
drops to 80%) o Squatting is a compensatory mechanism
to facilitate increased return of blood flow
to the heart for oxygenation
o by kinking the femoral artery in the legs,
increasing vascular resistance in the
peripheral artery, therefore increases
pressure in the systemic circulation which
increases pressure in the left ventricle
(shunt reverses to LEFT to RIGHT) to go
to the lungs to be oxygenated
o Clubbing (an abnormal enlargement in the
distal phalanges seen in the fingers) is
symptomatic of chronic hypoxia as
peripheral circulation is diminished to
allow oxygenation of vital organs and
tissues.

Summary of Assessment Findings:

 Cyanosis
 Tet spells
 Clubbing of fingers
 Growth retardation
 Exertional dyspnea relieved by
squatting

Diagnosis :
Infants
 History and PE
o The infant may be acutely cyanotic at birth
 Echocardiography
or may have mild cyanosis that progresses  Cardiac catheterization
over the first year of life as the pulmonic  angiography
stenosis worsens
o A characteristic murmur is present
 Congenital Heart Defects
MANAGEMENT

1. Conservative: hydration, prevent infection,

positioning; O2; morphine; Do not allow to cry
for long period of time
2. Surgical treatment:
a. Palliative shunt (Blalock-Taussig) (4
to 6months of life)
The shunt increases pulmonary blood flow and
increases
oxygen saturation in infants who cannot undergo
primary repair.
The shunt provides blood flow to the pulmonary
arteries from the left or right subclavian artery.
b. Complete repair (Brock procedure)
Complete repair usually is performed in the first
year of life
 A Blalock-Taussig (BT) shunt is a small tube, only
a few millimeters wide, that is used to create a
pathway for blood to go from the arterial circulation
to the lungs. It is used to treat congenital heart
defects that affect blood flow to the lungs.

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