Congenital heart disease (CHD) encompasses structural and functional heart problems present at birth, involving shunts or obstructions that impact blood circulation and can range from asymptomatic to fatal conditions. Epidemiology highlights various types such as left-to-right shunts (ventricular septal defect, atrial septal defect, patent ductus arteriosus) and right-to-left shunts (tetralogy of Fallot, transposition of great arteries) with various risk factors including genetic and maternal conditions. The document covers assessment, classification, clinical manifestations, diagnostic methods, and treatment approaches including medical management and surgical interventions for different CHD types.

1. Congenital Heart Disease

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OUTLINE
Definition
Etiology and risk factors
Classification (types)
Pathophysiology
Clinical presentation
Lab investigations
Differential diagnosis
Management
Nursing interventions
Current (existing) evidence on the area

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Over view Fetal circulation
 In the fetus, the placenta provides for gas and metabolite
exchange.
 Since the lungs do not provide gas exchange, the pulmonary
vessels are vasoconstricted, diverting blood away from the
pulmonary circulation.
 Three cardiovascular structures unique to the fetus are
important for maintaining this parallel circulation:
 The ductus venosus
 Foramen ovale, and
 Ductus arteriosus.

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Over view Fetal circulation…
• Blood flows from the placenta
• IVC
• RA
• through the FO
• LA
• LV
• ascending aorta
• head& upper extremities
• returns via the SVC

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• From the SVC
• RA
• RV
• pulmonary artery
• through the PDA
• descending aorta
• lower extremities and placenta

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Immediately after delivery
 With the first breaths at birth, the fetal circulation changes. A larger
amount of blood is sent to the lungs to pick up oxygen.
 Because the ductus arteriosus (the normal connection between the
aorta and the pulmonary valve) is no longer needed, it begins to wither
and close off. (72 hrs.)
 The circulation in the lungs increases and more blood flows into the
left atrium of the heart pressure causes the foramen ovale to close and
blood circulates normally.
 What If this normal physiology altered? =========CHD.

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1. Congenital Heart Disease
Definition: Congenital heart disease or congenital heart
defect (CHD) is a problem of the heart's structure and
function present at birth, affecting the heart or adjacent
great blood vessels, detected either at the time of birth or
detected later in life.
• Most common cause of childhood heart disease
• Cause either shunting of blood between right and left
circulation or cause obstruction
• Range from asymptomatic to rapidly fatal

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Epidemiology
A. Left to Right shunts (Acyanotic or Late
Cyanotic group) cyanosis months or years
after birth
• Ventricular septal defect (VSD) -25-30%
• Atrial septal defect (ASD)-10-15%
• Patent ductus arteriosus (PDA)-10-20%
B. Right to Left shunts (Cyanotic group)
• Tetralogy of Fallot (TOF)-6-15%
• Transposition of great arteries -4-10%
• Persistent truncus arteriosus – 2%
• Tricuspid atresia and stenosis 1%
C. Obstructions
 Coarctation of Aorta 5-7%
 Aortic stenosis and atresia 4-6%
 Pulmonary stenosis and atresia 5-
7%
• Congenital heart disease occurs in approximately 8-10 per 1000 births
• congenital heart diseases account for 3% of all infant deaths
• In premature infants about 2% excluding patent ductus arteriosus [PDA])
• In stillborns (3–4%) and in spontaneous abortuses (10–25%)

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Etiology
 The cause of most (80%) congenital heart defects is still unknown.
 But many cases of congenital heart disease are multifactorial and result
from a combination of genetic predisposition and environmental stimulus.
 Genetic(20%) - single gene defect and Chromosomal abnormality (down
syndrome and turner syndrome)
 Adverse maternal conditions (environmental)
 Maternal infections – rubella
 Maternal diseases – DM
 Drugs – lithium, ethanol, warfarin, thalidomide, antimetabolites,
vitamin A derivatives, anticonvulsant agents)
 Advance maternal age

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Assessment : history
Medical history of:
– Illness -LE, DM
– Medication-cardiotoxic drugs
– Rheumatic fever
– Abortion and still birth
Immunization hx: because pertussis and rubella are dangerous for these
patients.
Pregnancy history: viral infection, drug exposure, maternal disease
Family History: CHD and Syndromes in parents
Sex:
In female PDA and VSD are common
In male CoA, AS and transposition of great arteries are
common

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HX cont…
Birth history: Progress of labor, Method of delivery, Apgar
score, Asphyxia and Delay in clamping umbilical cord
Birth weight hx: CHD patients has low birth weight distribution
e.g PDA and VSD. And also Baby with large for gestational age
(baby of diabetic mother) has 3-4 times higher risk of CHD
Endurance and exercise tolerance: this screens for cardiac
diseases involving obstructive lesions such as aortic or pulmonic
stenosis

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Laboratory investigations
• Blood test: to determine Arterial blood gases like
the oxygen tension (PaO2), carbon dioxide tension
(PaCO2), acidity (pH), Electrolyte, oxyhemoglobin
saturation (SaO2), and bicarbonate (HCO3)
concentration in arterial blood

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Differences in infants and children
• Infants: feeding difficulties, easy fatigability, sweeting
while breast feeding, tachypnea, poor weight gain and
cyanosis
• Older children: shortness of breath, dyspnea on
exertion, dizziness and palpitation

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Classification of CHD
Generally, congenital heart disease is divided into cyanotic or
acyanotic heart disease, a classification which is based on the
level of hemoglobin saturation in the systemic circulation.
1. Acyanotic (L R shunt)
• Increased pulmonary blood flow
» Atrial septal defects
» Ventricular septal defect
» Patent ductus arteriosus
• Obstructed blood from the ventricles
• Coarctation of the aorta
• Aortic stenosis
• Pulmonic stenosis

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Classification cont…
2. Cyanotic (R– L shunt)
• Decreased pulmonary blood flow
• Tetralogoy of Fallot
• Tricuspid atresia
• Mixed blood flow
• TGA
• Truncus arteriosus

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1 Acyanotic Congenital Heart Disease
 A congenital heart defect in which the children has no cyanosis because
there is no mixing of unoxyginated blood in systemic circulation.
 Most common type of CHD and present 3:1 ratio of females to males
 Blood is shunted (flows) from the left side of the heart to the right side
of the heart due to a structural defect (hole) in the inter-ventricular
septum.
 Communication between the systemic and pulmonary sides of the
circulation, which results in shunting of fully oxygenated blood back
into the lungs.

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1.1 Increased pulmonary blood flow
Ventricular Septal Defect (VSD)
 The defects that occur in any portion of the ventricular septum,
but most are of the membranous type.
 Has three types: membranous, supracrystal and
muscular( single/multiple)
 Single most common congenital heart malformation, accounting
for almost 30% of all CHD
Pathophysiology
 Large VSDs recognized early in life Left to right shunt
right side volume overload pulmonary HTN right to left
shunt late onset cyanosis

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Clinical Manifestation
Small defects
- Most common
- Asymptomatic
- Loud, harsh holosystolic M at LLSB
Large defects
 Excessive pulmonary blood flow
 Pulmonary hypertension
 Dyspnea, feeding difficulties, poor growth, perspiration,
recurrent plum. infection, heart failure
 Less harsh but more blowing holosystolic M.
 Accentuated 2nd
heart sound(2 component sound at aortic and
pulmonic valve closure)
 Mid-diastolic apical M when shunt/flow ratio of Qp : Qs > 2:1

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VSD cont.…
• Diagnosis
- Clinical
- CXR - Cardiomegaly
- Plethoric lung
- ECG - to show left ventricular hypertrophy.
- Echocardiography – position and size of the VSD and shunt
• Treatment
 Small defects - reassurance
- Prophylaxis against IE
 Large defects - medical treatment (Lasix and Aldactone to control
CHF and Digoxin to increase effectiveness of myocardial function,
prevent IE, prevent development of p. venous HTN)
- Surgical repair between 6-12m

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Complications
 Infective endocarditis
 Recurrent lung infection
 Heart failure
 Pulmonary HTN
 Acquired pulmonary stenosis

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Atrial Septal Defect
• 10-15 % of CHD and 1/1500 live births
Major types
• Ostium Secundum --- 75%
• Most common
• In the middle of the septum in the region of the foramen ovale
• Ostium Primum--- 15%
– associated with other endocardial cushion defects (cleft AV valves, inlet type VSD)
• Low position
• Form of AV septal defect
• Sinus Venosus--- 10%
– large, associated with anomalous pulmonary venous drainage
– Least common
• Positioned high in the atrial septum
• Frequently associated with partial anomalous pulmonary venous
return (PAPVR)
• Coronary sinus (rare)

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ASD Cont.…
Pathophysiology
Left to right shunt of:
- Trans atrial in OS & SV
- Trans atrial & trans ventricular in OP
Clinical Manifestations
Most are asymptomatic
Hyperactive precordium
Dyspnea, SOB and palpitations
Wide & fixed split of 2nd
heart sound
 Systolic ejection murmur
 Mid-diostolic murmur at tricuspid area
 Holosystolic murmur at mitral area in OP

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Cont…
Diagnosis
• Clinical
• By Ultrasound during pregnancy
• CXR - Right. V & A enlargement
- Large pulm. artery
- ↑ed pulm. vascularity
• ECG - volume overload, Rt ventricle & atrium
• Echocardiography
Prognosis - Well tolerated
Complications - pulm. Hypertension Eismenger syndrome,
Arrhythmia & Heart failure
Treatment
-Surgery -for all symptomatic
- Medical Treatment -Digoxin - strengthen the heart muscle and
diuretics to help the kidneys remove excess fluid from the body

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Atrial Septal Defect

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Patient Ductus Arteriosus
 Persistence of the normal fetal vessel that joins the PA to the
Aorta.
 Accounts for 10% of all CHD with Female : Male ratio of 2:1
and common in preterm
 The ductus arteriosus connects the pulmonary artery to the
descending aorta during fetal life.
 PDA results when the ductus fails to close after birth.
 In fetal life, ductus serves as a functioning connection between
the pulmonary artery and aorta.
 After birth, the partial pressure of o2 rises and the pulmonary
arterioles dilate causing the ductus to close.
 Closes spontaneously in normal term infants at 3-5 days of age
 Leads to increased pulmonary vascular disease.

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PDA cont.
Pathophysiology
• Blood flows from aorta to the pulmonary artery, creating a left to right
shunt, resulting in left atrium and ventricle overload.
• Increased pulmonary blood flow can result in pulmonary hypertension and
reversal of the shunt, which is known as Eisenmenger’s Syndrome.
• This results in flow of desaturated blood to the lower extremities.
Clinical Manifestation
• Asymptomatic in small ductus
• Large PDA’s can result in symptoms of CHF, growth restriction, failure to
thrive (FTT)
• Wide pulse pressure
• Bounding pulse
• Continuous or machinery mainly systolic M at 2nd
Left ICS

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PDA cont.
Diagnosis
- Clinical
- Chest X-ray -enlarged cardiac silhouette
- ECG -Left atrial enlargement, LVH
- Echocardiography -
Prognosis
- Small PDA - can maintain normal life
- Large PDA - CHF
Complications
- Infective Endocarditis/Endarteritis
- CHF
- Embolization
- Pulmonary HTN
Treatment
PDA can be treated with both surgical and non-surgical methods
Surgical treatment - Surgical division or ligation of the PDA
Non surgical treatment - Indomethacin or a special form
of ibuprofen have been used to initiate PDA closure

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1.2 Obstructive Lesions
Pulmonic Stenosis
• Pulmonic Stenosis is obstruction in the region of either the
pulmonary valve or the sub pulmonary ventricular outflow
tract.
• Accounts for 7-10% of all CHD.
• Pathophysiology - Rt outlet obstruction → Pressure work →
Rt vent. hyperthropy
• I t has 4 types:
- Valvular
- Infundibular
- Supra valvular
- Peripheral

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Cont…
Clinical Manifestation
• Mild to moderate - asymptomatic
• Critical stenosis
- Systolic ejection murmur
- Heart failure in neonates & infants
- Rarely cyanosis
Diagnosis
- Clinical
- Cardiac catheterization to inject a dye for x-ray or measure the pressure of
chambers
- CXR - Rt vent. Enlargement and reduced pulm. blood flow
- ECG to show muscular thikening
-Echocardiography to show structure narrowing and location of valve

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Cont…
Treatment
• Mild PS no intervention required, close follow-up.
• Mod-severe – require relieve of stenosis.
• Balloon valvuloplasty - treatment of choice.
• Surgical valvotomy is also a consideration.
Complications - CHF in severe Ps
- rarely IE

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Coarctation of the Aorta
• Coarctation- is narrowing of the aorta at varying points
anywhere from the transverse arch to the iliac bifurcation.
• Accounts for 7 % of all CHD and Male: Female ratio 3:1
• Can be Located: proximal , at , or distal to insert in of ductus.
• 98% of coarctations are juxtaductal
• 20% of cases are associated with Turner sndrome
• Divided in to infantile (preductal) & adult (postductal) form
Infantile form proximal (pre-ductal)
• Associated with PDA
• Coarctation lies proximal to the PDA
• Presents as lower extremity cyanosis

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CoA cont.
Adult, distal (postductal) form
• Coarctation lies distal to the aortic arch
• Presents as hypertension in upper extremity and hypotension in lower
extremity
• Discovered in adulthood
Clinical Manifestation
 hypertension of the upper extremities
 Differential cyanosis → pale upper extr. and cyanosed lower extr.
Classic signs
- Disparty in pulse & BP
- Radio-femoral delay
- Systolic M at LMSB & inter-scapular area

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CoA cont.
Diagnosis
• Clinical –BP( in lower and upper extri.) and Pulse
• ECG- LVH
• CXR –Cardiomegaly, rib notching (large volume of blood in
intercostal arteries)
Treatment
• With severe coarctation maintaining the ductus with
prostaglandin E is essential.
• Surgical intervention, to prevent LV dysfunction.
• Balloon angioplasty is the procedure of choice.
Complications - CVA
- I/E
- Aneurysms

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Aortic Stenosis
Aortic stenosis (AS) is narrowing of the aortic valve resulting
in obstruction of blood flow from the left ventricle to the
ascending aorta during systole.
It has 3 types :
• Valvular - the commonest
• Supra valvular
• Subvalvular (subaortic)

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Clinical Manifestation
Mild stenosis
- Normal pulse & apical impulse
- Systolic ejection M
- Normal to enlarged heart size
Critical stenosis
- Left ventricular failure
- pulm. edema, cardiomegaly
- Weak peripheral pulses
- Weak systolic M
- Paradoxical split M 2nd
heart sound

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complication
HF
Stroke
Blood clot
Bleeding
Cardiac arrhtmia
Infection like endocarditis
Death

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2. Cyanotic Congenital Heart Disease
2.1 Decreased pulmonary blood flow
Tetralogy of Fallot
Tetralogy of Fallot is the most common cause of "blue baby."
Defined by four findings:
1. pulmonary stenosis
2. Ventricular septal defect
3. Right ventricular hypertrophy
4. Overriding of the aorta

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Tof con.
Pathophysiology
 The aorta originates from the right ventricle rather than the left,
or it overrides a hole in the septum receiving blood from both
ventricles.
 The pulmonary artery is stenosed, so that much lower than
normal amounts of blood pass from the right ventricle into the
lungs;
 Blood from the left ventricle flows either through a ventricular
septal hole into the right ventricle and then into the aorta or
directly into the aorta that overrides this hole.
 Because the right side of the heart must pump large quantities of
blood against the high pressure in the aorta, its musculature is
highly developed, causing an enlarged right ventricle

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Clinical manifestation
Symptoms:
– Children present with cyanotic hands and feet
– Dyspnea on exertion or when crying
– Tet spells: irritability, cyanosis, hyperventilation and sometimes syncope
or convulsions due to cerebral hypoxemia.
– Patients learn to alleviate symptoms by squatting which increases
systemic resistance and decreases the right-to-left shunt and directs more
blood to the pulmonary circulation.
– Children squat to enhance flow back to heart to oxygenate
Physical exam
– Clubbing of the fingers and toes
– Delayed growth & development
– Systolic ejection murmur heard at the upper left sternal border created by
turbulent blood flow through stenotic RV outflow tract
– Single 2nd heart sound

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ToF cont.
Diagnosis
– CXR: - prominent RV
- A boot shaped heart with narrow base & uplifted apex
- decreased pulm. vascularity
- Right side aortic arch seen in 20% of cases
– EKG: RVH, right axis deviation
– ECHO: displays and quantifies extent of RV outflow tract obstruction
• Complication
- Cerebral thrombosis - in < 2 years
- Brain abscess
- Infective endocarditis
- Polycythemia
- CHF

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Treatment
For Severe outflow obstruction
• Medical Rx - PGE1 infusion
- Prevent dehydration
- Partial exchange transfusion
- Patient given beta blockers for prophylaxis
against Tet spells
• Surgery
Total correction (Surgical closure of the VSD and enlargement
of the pulmonary outflow tract)

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Tricuspid atresia
• It is a complete absence of the tricuspid valve
• No outlet from Right atrium to right vent.
• Usually associated with both ASD and VSD
• Therefore, there is an absence of right atrioventricular
connection. This leads to a hypoplastic (undersized) or
absent right ventricle
Clinical Manifestation
- Cyanosis at birth
- Polycythemia
- Easily fatiquability
- Exertional dyspnea

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Cont…
• Diagnosis
- EXR -Pulm. Under circulation
- ECG -Lt axis deviation & Lt vent. hpertrophy
- Echocardiography
Treatment
- PGE1
- Surgery - Aortico - pulmonary Shunt
- Bidirectional Glenn shunt(connecting SVC
to pulmonary artery

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Cyanotic CHD With increased pulmonary blood flow
Transposition of GA
• Transposition of the great vessels, a common cyanotic congenital anomaly,
accounts for ≈5% of all congenital heart disease.
• Requires at least one shunt(ASD,VSD or both)
A) D -TGA (uncorrected)
– Systemic venous return to Rt atrium Normal
– Pulmonary venous return to Lt atrium
– Aorta arises from Right ventricle
– Pulm. artery arises from Lt vent. Pathology

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TGA cont.
• Desaturated blood enters the right atrium, flows through the
tricuspid valve into the right ventricle, and is ejected into the
transposed aorta with resultant severe aortic desaturation.
• Fully saturated pulmonary venous blood flows into the left
atrium, across the mitral valve into the left ventricle, and
across the transposed pulmonary artery into the lungs.

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TGA cont.
Clinical Manifestations
- Tachypnea & cyanosis at birth
- Rarely congestive heart failure
B) L. TGA (corrected transposition)
In l-transposition (l-TGA), the atrioventricular relationships are
discordant:
the right atrium is connected to the left ventricle and the left atrium to the
right ventricle (also known as ventricular inversion).
Clinical Manifestation
Symptoms and signs are widely variable and are determined by the
associated lesions.

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TGA cont.
Diagnosis
- Clinical
- CXR - Cardiomegaly
- Narrow mediastinum
- Increased pulmonary blood flow
- ECG
- Echocardiography detect (RVH and left ventricular
atrophy)
Treatment
- PGE1 - emergency
- Surgery

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Truncus arteriosus
- Single arterial trunk for both pulm. & systemic circ.
- 4 types (Type I, II, III, IV) depending the origin of
pulmonary artery
Clinical Manifestation
- Cyanosis
- CHF at 1-2 month
- Systolic ejection m
• Diagnosis The ECG shows right, left, or combined
ventricular hypertrophy. The chest x-ray also shows
considerable variation like Cardiac enlargement
• Treatment - surgery

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Nursing Care
– Decrease Cardiac Demands
• Conserve energy for feeds
• Monitor temperature
• Minimize stress
– Minimize Respiratory Distress
• Elevate HOB
• Administer Oxygen
– Support Adequate Nutrition
• Feed infants every 3 hours
• High calorie formulas
– Monitor Fluids and Electrolytes
• Daily weight
• Strict I’s & O’s
• Potassium
– Perioperative surgical care