1

PEDIATRICS CONGENITAL HEART DISEASE

 Presentation
2
outline
 Introduction
 The epidemiology
 Classification of congenital heart disease
 Pathophysiology
 Clinical presentation and physical findings of common CHD
 management
 INTRODUCTIO
3
N
 Placenta
• is an organ that develops in your uterus during
pregnancy.

• This structure provides oxygen and nutrients to

your growing baby and removes waste products
from your baby's blood.

Foramen ovale (PFO)

• is a small hole located in the septum, which is the
wall between the two upper chambers of the heart
(atria).

• Before a baby is born, it does not use its lungs to

get blood rich in oxygen.
 Ductus arteriosus (PDA)
• is a blood vessel in the developing fetus connecting
the trunk of the pulmonary artery to the proximal
descending aorta.

• It allows most of the blood from the right ventricle

to bypass the fetus's fluid-filled non-functioning
lungs.

Ductus venosus (PDV)

• is a shunt that allows oxygenated blood in the
umbilical vein to bypass the liver and is essential for
normal fetal circulation.

• blood becomes oxygenated in the placenta and

travels to the right atrium via umbilical veins
through the ductus venosus, then to the inferior
vena cava.
 Foetal circulatory
4
system
 Foetal
Circulation
Arterial blood leaves the placenta
via the umbilical vein

 This branches and delivers blood

to the IVC by way of the ductus
venosus

 Blood then goes into the right

atrium, 30% goes across the
foramen ovale, the rest to the RV
then to PA
Instead of going to the lungs, 85%

goes through the PDA to the aorta

 INTRODUCTIO
6
N
 Is a defect in the structure or function of the heart and great
vessels which is present at birth.
 Congenital heart disease (CHD) is the most
common congenital disorder in newborns.
 It is not static ,there is always a continuous
anatomical or physiological change
 Epidemiology and Genetic Basis
Congenital Heart
of
Disease
7

 Congenital heart disease occurs in approximately 0.8% of live births.

 The incidence is higher in stillborns (3-4%), spontaneous abortuses
(10-25%), and premature infants.
 In preterm infants, CHD is two to three times that found in term
infants.
 about 2-3 in 1,000 newborn infants will be symptomatic with heart
disease in the 1st year of life
 With advances in both palliative and corrective surgery, the number
of children with CHD surviving to adulthood has increased
dramatically.
 Despite these advances, CHD remains the leading cause of death in
children with congenital malformations.
 Etiolog
9
y
 Unknown.

 multifactorial from a combination of

 genetic predisposition
 environmental stimulus

 CHD are related to chromosomal abnormalities, in particular,

trisomy and Turner syndrome.
 Third Pregnancy (Multiparity) 20-30%
 The risk of recurrence of CHD increases if a 1st-degree relative

(parent or sibling) is affected.

10

 Of all cases of CHD, 2-4% are associated with known

environmental or adverse maternal conditions and
teratogenic influences, including
maternal diabetes mellitus, phenylketonuria, or

systemic lupus
erythematosus; congenital
rubella syndrome;

 and maternal ingestion of drugs (lithium, ethanol, warfarin,

thalidomide, antimetabolites, vitamin A derivatives,
anticonvulsant agents.
11

 Gender differences in the occurrence of specific cardiac

lesions have been identified.

 Transposition of the great arteries and left-sided

obstructive lesions are slightly more common in boys
(≈65%),
 whereas atrial septal defect, VSD, PDA, and
pulmonic stenosis are more common in girls.
Evaluation of the
newborn
 Recognition of Cyanosis
13

Cyanosis = blue color of skin and mucous membranes caused by

reduced oxygen content
• oxygen content of blood depends upon:
 Hgb level
 oxygen saturaton
 blood flow
• cyanosis usually noted when Sat’s
<86% cyanosis more difficult to see
in anemia
 Recognition of Cyanosis

Central cyanosis
• noted in the trunk, tongue, mucous membranes
• due to reduced oxygen saturation

Peripheral cyanosis (Acrocyanosis)

• noted in the hands and feet, around mouth
• due to reduced local blood flow
Acyanotic Congenital Heart
Disease
↑Pulmanary blood flow
Left-to-Right Shunt Lesions
 Patent Ductus Arteriosus (PDA)
 Atrial Septal Defect (ASD)
 Ventricular Septal Defect (VSD)
 Atrioventricular Septal Defect (AV Canal)
 Patent Ductus
Arteriosus (PDA)
17

 The direction and magnitude of the shunt across such a

communication depend on the size of the defect, the relative
pulmonary and systemic pressure and vascular resistances.
 The increased volume of blood in the lungs decreases

pulmonary compliance and increases the work of breathing.

 Fluid leaks into the interstitial space and alveoli and causes
pulmonary edema.
 The infant acquires the symptoms we refer to as heart
failure, such as tachypnea, chest retractions, nasal flaring,
and wheezing.
 Patent Ductus Arteriosus
 PDA – Persistence of the normal fetal vessel that joins the
Pulmonary artery to the Aorta.
 Normally closes in the 1w
st
k of life.
 Female:Male ratio of 2:1

 associated with maternal rubella infection during early pregnancy

PDA is a common problem in

premature infants.
 Pathophysiolog
19
y
 As a result of the higher aortic pressure postnatally, blood
shunts left to right through the ductus, from the aorta to the
pulmonary artery.
 The extent of the shunt depends on the size of the
ductus and on the ratio of pulmonary to systemic
vascular resistance.

 If the PDA is small, pressures within the pulmonary artery,

the right ventricle, and the right atrium are normal.

 If the PDA is large, pulmonary artery pressure may be

elevated to systemic levels during both systole and diastole
Patent Ductus Arteriosus
Hemodynamics

 As a result of higher aortic

pressure, blood shunts L
to R through the ductus
from Aorta to PA.
 Clinical
21
Manifestations
 A small PDA is usually asymptomatic.
 tachycardia

 Shortness of breath

 Retardation of physical growth.

 Characteristic systolic-diastolic

murmur at the base of the heart with

maximum in the PA
Chest X-ray
•pulmonary
vascularity is
increased;

•enlargement of
left sided heart
 THERAPEUTIC
INTERVENTIO
NS
Interventions for PDA closure include:
Pharmacologic therapy, which is used exclusively in premature
infants
Surgical ligation
Percutaneous catheter occlusion

Mortality is < 1%
 Pharmacologic therapy
25

• Indomethacin (Inhibitors of prostaglandin synthesis)are used

as the initial interventions for PDA closure in preterm infants.

• Ibuprofen effective in closing a PDA and currently appears to

be the drug of choice. Ibuprofen reduces the risk of NEC and
transient renal insufficiency.

• Paracetamol effective in closure of PDA in preterm neonates

and
has less side effects mainly on renal function, platelet count, and
GIT bleeding.
 Indomethacin -0.2 mg/kg
 Ibuprofen -10-5-5 mg\kg
 Surger
27
y
 Irrespective of age, patients with PDA require surgical or catheter
closure

 The surgical approach and technique are dependent upon the size
and age of the patient

 The following complications are associated with surgical

closure:
 Recurrent laryngeal nerve paralysis
 Respiratory compromise
 Infection
 Intracranial hemorrhage in preterm infants
 Percutaneous
28
closure
 Provides an
alternative to surgical
ligation in patients
beyond infancy using
catheter.

 Access is generally
achieved through the
femoral artery or vein.

 Closure of the PDA with

coil or device without
thoracotomy
 Indications for PDA
29
closure
 PDA closure for patients with a significant left-to-right
shunt who are symptomatic, have evidence of left cardiac
overload (ie, left atrial or ventricular enlargement), or have
mild to moderate pulmonary arterial hypertension (PAH) .

 For patients with a previous episode of endocarditis

regardless of the size of PDA in the absence of severe
Pulmonary Arterial Hypertension (PAH).
Atrial Septal Defect
(ASD)
 Atrial Septal
30
Defect
ASD is an opening in the atrial septum permitting free
communication of blood between the RA and LA

 Atrial septal defects (ASDs) can occur in any portion of the atrial
septum, depending on which embryonic septal structure has
failed to develop normally
 There are 3 major types:
31

Se cundumASD – at the Fossa Ovalis, accounts for 70 to 75

percent of all ASDs, most common.

• Prim um ASD – lower in position accounts for

15 to 20 percent of ASDs.

• S inus Ve no sus ASD – high in the atrial septum, the least

common.
Atrial Septal
Defect
 Secundum  Sinus Venosus ASD
ASD
In normal, the chambers of the left side of the
heart are higher pressure than of the right side;
 Atrial Septal
34
Defect
In the case of a large ASD (>9mm), may result in left-to-
right shunt, blood will shunt from the LA to the RA.
 This extra blood may cause a volume overload of both the

right atrium and the right ventricle.

 Ultimately the RV must push out more blood than the LV

due to the L-to-R shunt.

 This condition can result in eventually RV-failure
(dilatation and decreased systolic function) and
Pulmonary HPN
 Atrial septal defect
with left-to-right
shunt

 When the pressure in the RA rises to the level in the LA,

the left-to-right shunt will diminish or cease.

 When the pressure in the RA to be higher than the pressure

in the LA and will reverse the shunt → right-to-left shunt
will exist (this phenomenon is known as Eisenmenger’s
syndrome).
 Clinical Signs & Symptoms:
36
• Most infants with ASDs are asymptomatic.

• They may present at 6 to 8 weeks of age with a soft systolic

ejection murmur

• Hyperactive precordium, RV heave, fixed widely split S2.

• Mid-diastolic murmur heard over LLSB.

• Children with large left-to-right shunts are likely to complain of

some fatigue and dyspnea.

• Growth failure is very uncommon

 Clinical Signs & Symptoms
37

• Rarely presents with signs of CHF or other cardiovascular

symptoms.

• Most are asymptomatic but may have easy fatigability or

mild growth failure.

• Cyanosis does not occur unless pulmonary HPN is

present.
 Radiologic Features
38

 Echo-CG: RV is enlarged, defect is visualized

 The heart is usually enlarged, with a cardiothoracic ratio

>0.5

 chest X-ray: pulmonary vascularity is increased

 NATURAL
39
HISTORY
 Secundum ASDs can close spontaneously, remain
unchanged, or enlarge.
 Spontaneous closure, or a decrease in size, is most likely to
occur in defects less than 7 to 8 mm in diameter and with
younger age at diagnosis
 TREATMEN
40
T
 The treatment for isolated secundum ASD is closure of the
defect, which can be achieved by a surgical or percutaneous
transcatheter approach.

Which ASDs should be closed?

 The majority of isolated secundum ASDs <6 mm diameter in
infants close spontaneously by 2 years, and some as late as 5
years of age.

 Defects of moderate size (at least 6 to 8 mm in diameter) and

larger are relatively unlikely to close spontaneously.
 TREATMEN
41
T
 The accepted clinical standard is to repair Surgical or
catherization closure for secundum ASD

 Surgical correction is done earlier in children w/ CHF or

significant Pulm HPN.



prophylactic antibiotics are recommended during the
first six months after the repair.
RECAP: August 5, 2020
 RECAP: August 5, 2020

- Adult Circulation
- Fetal Circulation
 PLACENTA
 3 SHUNTS
• FO = RA to LA
• DA = PA to Aorta
• DV = UV to IVC bypassing to hepatic system (20-30%)

- Large Factor of developing CHD is a result of:

 Maternal Condition
 Maternal Behavior

• Cardinal Sign of CHD = CYANOSIS

PERIPHERAL/ACYANOSIS CENTRAL CYANOSIS
 PERIPHERAL/ACYANOSIS

1. PDA - failure of the DA to close 1. Age

• ttt = Pharmacology (Ibuprofen) 2. Heart viability
= SURGERY (ligation or PCI) 3. evident symtoms
(CO and Cardiac Infection)

2. ASD - opening of the septum between RA and LA

- 3 kinds = dependent on the location of the
opening

• ttt = SURGERY (ligation or PCI) 1. Age

= antibiotic is given straight 2. Size of opening
3. Presence of Pul. HPN
6 months after repair as
prophylaxis
SESSION 2
Ventricular Septal Defect
(VSD)
 Ventricular Septal Defect
42

 VSD– is an abnormal opening in the ventricular

septum, which allows free communication between
the Rt & Lt ventricles.
 Accounts for 25% of CHD

 most common CHD in infant

 Ventricular Septal
Defect

 shifting of blood from LV to RV

due to leak = increase supply to RV = increase supply to lungs
= causing PULMONARY HPN
S/SX: Fatigue, SOB, Difficulty feeding, poor growth (1st week of life)

COMPENSATORY: increase pressure of RV to shift

back to supply to LV (decrease concentration of
oxygenation) = CYANOSIS

https://www.youtube.com/watch?v=1rH-lcKukiM
44

4 Types
Perimembranous (or membranous) – Most common(80%).

defect lies in the outflow tract of the left ventricle immediately

beneath the aortic valve
Muscular VSD – Defects in the muscular septum are

frequently multiple and make up 5% to 20% of defects

Infundibular (subpulmonary VSD) – involves the RV outflow

tract. Defects in the outflow tract of the right ventricle beneath

the pulmonary valve
AVSD – posterior and inferior to the membranous defect, beneath

the septal leaflet of the tricuspid valve almost always involves AV

valvular abnormalities
 Clinical Signs & Symptoms
45

 Small - are usually asymptomatic and 50% will close

spontaneously by age 2yrs.

 Moderate – large VSD, almost always have symptoms

and will require surgical repair before 1st year.

 heart murmur heart with stetoscope

 Symptoms develop between 1 – 6months

 Fatigue, SOB, Difficulty feeding, poor growth (1st week of life)

 CYANOSIS (RV compensation) 1

Ventricular Septal Defect

Chest X-ray:
•increased pulmonary
vascularity.

•enlargement of the
LA and LV.

•Cardiomegaly
 CONFIRMATORY DIAGNOSIS for VSD:

Echocardiogram = echocardiogram is a test that uses sound

waves (ultrasound) to create images of the heart. A Doppler test
uses sound waves to measure the speed and direction of blood
flow.
 Treatment: Medical Therapy VSD
49

 Children with small VSDs are asymptomatic and have excellent

long-term prognosis.
 Neither medical therapy nor surgery is indicated.

 Bacterial endocarditis prophylaxis is indicated.

 If children with moderate or large VSDs develop symptomatic

a trial of medical therapy is indicated.

 Furosemide

 Enalapril (Vasotec)

 initial dosage of 0.1mg and increase gradually

maximum of 40 mg/day
 Indications for
Surgical Closure:
50

 Large VSD w/ medically uncontrolled symptomatology & continued

FTT(failure to thrive)

 Ages 6-12 mo nths with Pulmonary HPN

 Secondary risk of developing Ateroventriicular insufficiency

Acyanotic Congenital Heart
Disease Obstruction to
blood flow from Ventricles
 Acyanotic Congenital Heart Disease
Obstruction to blood flow fromventricles
51

 Coarctation of the Aorta

 Pulmonary Stenosis

 Aortic Stenosis
Coarctation of the Aorta
 Coarctation of the aorta is a narrowing of the
descending aorta
 occurs in approximately 6% to 8% of patients with

congenital heart disease

 coarctation occurs more commonly in males than

in females
 The genetic component to coarctation has long

been recognized in the Turner syndrome, in which

about 35% of patients are affected
 PATHOGENESIS AND ETIOLOGY
53

 Congenital
The two main theories for the development of congenital
coarctation of the aorta are:
1. Reduced antegrade intrauterine blood flow
causing underdevelopment of the fetal aortic arch.
2. Migration or extension of ductal tissue into the wall of the
fetal thoracic aorta

 There is also increasing vascular wall defect in the ascending

aorta of individuals with congenital coarctation of aorta
54

Acquired
 Aortic narrowing can be an acquired abnormality due to
inflammatory diseases of the aorta, such asevere
atherosclerosis
 Coarctation of the Aorta (htps:/wwwy.outubec.om/watch?v=HbUrfLgE2FE
 Obstruction of left ventricular outflow  LV afterload
increases  pressure hypertrophy of the LV.
 Coarctation of the
Aorta
Clinical Signs
&
Symptoms

• Classic signs of
coarctation are
decrease or absence
of femoral pulses
• increase BP (upper
ext.)
• Pulse discrepancy
between rt & lt arms.
Feel the pulses
especially brachial and femoral
Coarctation of the Aorta
 Treatment
61

 Management decisions for patients with coarctation of the aorta

depend upon patient age, presentation, and the severity of the
lesion.
 Critical coarctation in infancy: Infants with severe
(“critical”) coarctation are at-risk for developing heart failure
and death when the ductus arteriosus closes.
 Identification of these patients is essential in order to maintain
patency of the ductus prior to surgical repair.
 immediate treatment is required to stabilize patients with heart
failure.
 Surgical Repair
63

 Resection with end-to-end anastomosis

Subclavian flap aortoplasty in infants with long-segment
coarctation

 Bypass graft across the area of coarctation when the distance

to be bridged is too long for an end-to-end repair

 Prosthetic patch aortoplasty, which is avoided whenever

possible because of the frequent occurrence of aortic
aneurysm or rupture
64

Balloon
angioplasty
 Balloon angioplasty is a
noninvasive alternative to surgical
repair for older infants (greater than
four months of age) and young
children with native discrete
coarctation.

 It remains the preferred

intervention for all patients with
isolated recoarctation
regardless of age. x
 Pulmonary
65
Stenosis
 Pulmonary Stenosis
 narrowing or obstruction between the RV to the PA

 Accounts for 7-10% of all CHD.

 Most cases are isolated lesions

 Can present w/ or w/o an intact

ventricular septum

 Maybe biscuspid or fusion of 2

or
more leaflets.
 Hemodynamics
66

 RV pressure hypertrophy  RV failure.

 RV pressures maybe > systemic pressure.

 Post-stenotic dilation of main PA.

 W/intact septum & severe stenosis  R-L shunt through PFO

 cyanosis.
 Cyanosis is indicative of Critical PS.

https://www.youtube.com/watch?v=Rjorbxccxt0
 Clinical Signs & Symptoms
67

 Most patients with valvar pulmonary stenosis are

asymptomatic

 Depends on the severity of obstruction.

 Asymptomatic w/ mild PS < 30mmHg.

Mod-severe: 30-60mmHg, > 60mmHg with



Prominent jugular

Heart failure & cyanosis seen in severe cases.

 Treatment
68

 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
Balloon Dilatation
of Pulmonic
Valve
 Aortic

70
Stenosis
Aortic Stenosis - difficulty/ failure to open of the AV from
LV to the aortic valve.
 Accounts for 7% of CHD.

 more dangerous lesion compared to PS

3 Types
 Valvular – Most common.

Subvalvular(subaortic) – involves the left

outflow tract.

Supravalvular – involves the ascending aorta

is the least common.
 Clinical Signs &
71
Symptoms
 Mild AS may present with exercise intolerance, easy
fatigabiltity, but usually asymptomatic.

 Moderate AS – Chest pain, dypsnea on exertion, dizziness &

syncope.

 Severe AS – Weak pulses, left sided heart failure, Sudden

Death.
 DIAGNOSTIC: ECHOCARDIOGRAM

https://www.youtube.com/watch?v=EJLck30rkCY
 Treatment for Damage Valve
73

1. SURGICAL REPAIR
• balloon valvoplasty, removal of excess tissue
etc.
• Stenosis will recur

2. SURGICAL VALVE REPLACEMENT

• Mechanical
 last longer
 life-long anticoagulant
• Bioprosthetic
x
 Cyanotic Congenital Heart
75
Disease
 Congenital heart disease produces cyanosis when obstruction
to right ventricular outflow causes intracardiac right-to-left
shunting.
 Complex anatomic defects cause an admixture of pulmonary
and systemic venous return in the heart

 Decreased pulmonary blood flow

 Chest X-Ray
Decreased pulmonary vascular markings
 Tetralogy of Fallot
76

- Most common cyanotic heart

disease.
- Blue Baby

- The four abnormalities include:

Pulmonary stenosis
RVH
VSD
Overriding Aorta

https://www.youtube.com/watch?v=8BJOUfycsxo
77

Pathophysiology:
Increased resistance by
the pulmonary stenosis causes
deoxygenated systemic venous
return to be diverted from RV,
through VSD to the overriding aorta
and systemic circulation
systemic hypoxemia and cyanosis
 Clinical Signs &
78 Symptoms
Symptoms are variable depending of degree of obstruction
 Cyanosis – is variable (isn’t present at the birth, occurs later

in the 1st yr of life)

 Tet spells(Hypercyanotic ): irritability, cyanosis,

hyperventilation and sometimes syncope or convulsions due

to cerebral hypoxemia
 Severe dyspnea on exertion

 Tachycardia

 Mental retardation

 Retarded growth and development

 RV heave

 Systolic ejection murmur is heard along the left sternal

border
 Chest X-Ray

•Decreased
pulmonary vascular
marking

•“Boot-shaped
heart”
 TREATMENT:
80

1. TEMPORARY REPAIR
- Shunt = aorta to the RPA = LUNGS
- Stent = placement in PA to increase bld flow to the lungs

2. COMPLETE REPAIR (4-6 months of age)

- Pulmonary stenosis = widen thru a PATCH

- RVH = removal of excess muscles below the Pul.

Valve artery

- VSD = covering the hole with a PATCH

- Overriding Aorta
 Transposition of the Great Arteries
83

Normal Circulation
- UnO2 = RA = RV = PA =lungs
-O2 = PV = LA = LV = body via aorta
TGA
- UnO2 = RA = body via aorta bypassing the lungs
-O2 = (LV) pumps back to the lungs via PA

The signs include cyanosis and cardiomegaly.

 Echocardiogram is diagnostic.

https://www.youtube.com/watch?v=lBGUtiBp8k8
Transposition of the Great Arteries
 Clinical Manifestations
86

 Cyanosis, tachypnea are most often recognized within the 1st

hrs or days of life.
 Hypoxemia is usually moderate to severe, depending on the
degree of atrial level shunting and whether the ductus is
partially open or totally closed.
 Physical findings, other than cyanosis, may be remarkably

nonspecific.
 Murmurs may be absent, or a soft systolic ejection murmur

may be noted at the midleft sternal border.

 Treatmen
t
88

SURGERY:

- 1st to 2nd week

of life

- switching AORTA
and PULMONARY
ARTERY to its normal
location
 Preventing Birth
Defects

 Stop smoking
 Avoid drinking alcohol while pregnant
 Take a daily vitamin containing folic acid
 Check with your doctor to make sure any medication (over-
the-counter or prescription) is safe to take during
pregnancy
 Stop use of any illegal or "street" drugs
 References
94

 Moss and Adams; Heart Disease in Infants Children and

Adolescents,7th edition.
 Nelson Textbook of Paediatrics 20th edition.
 Uptodate 21.2

 Primary literatures mentioned in the body of this

document.
Thank you
for
attention!