CONGENITAL HEART

DISEASES
IN CHILDREN

Assistant Prof.
AHMED IBRAHEAM
Objectives

At the end of this lecture you should know:

Types of CHD
Clinical Features and Mode of Presentation
Diagnosis and Differential Diagnosis
Headlines about Management
 Congenital heart diseases (CHD)
• Congenital heart disease is identified through antenatal
echocardiogram, by the detection of a heart murmur on routine
checks and by the acute presentation of a child with cyanosis,
heart failure or collapse
Refer to structural or functional heart diseases
Nearly 33% to 50% of these defects are critical, requiring
intervention in the first year of life itself.
 Classification of CHD: divided into acyanotic and cyanotic .
Acyanotic Congenital Heart Disease:
According to initial pathological disturbance :
It is the most common CHD and can be classified as:
A. lesions that produce volume load, and the most common
of these are : left-to-right shunt lesions ( (ASD), (VSD),
AV canal or endocardial cushion defects, and P.D.A).
Regurgitated lesions and the dilated cardiomyopathies can
also cause volume load on the heart.
B. lesions that cause increase in pressure load , most often
secondary to ventricular outflow obstruction (pulmonic or
aortic valve stenosis) or narrowing of a great vessel (branch
pulmonary artery stenosis or coarctation of the aorta).
Less common are obstructions to ventricular inflow :
tricuspid or mitral stenosis
 B. Cyanotic Congenital Heart Lesions
Divided according to pathophysiology:
1.Lesion with decreased pulmonary blood flow is usually result
from an obstruction to right ventricular outflow (tetralogy of
Fallot, ,or an obstruction to right ventricular inflow (tricuspid
atresia),
In these lesions, the degree of cyanosis depends on the degree
of obstruction to pulmonary blood flow. If the obstruction is
mild, cyanosis may be absent at rest. These patients may have
hypercyanotic (“tet”) spells during conditions of stress. (CXR
oligemic lung)
 2. lesions with increased pulmonary blood flow where
oxygenated and deoxygenated blood are mixing (transposition
of the great arteries, single ventricle, truncus arteriosus
(CXR plethoric lung)
ATRIAL-SEPTAL DEFECT
ASD
 Atrial Septal Defect (ASD) is a communication or opening
between the atria. There are 3 anatomic types:
▪Ostium primum low in atrial septum, may involve a cleft mitral
valve( associated with valve defect) , risk for HF and mostly
needs surgey.
▪Ostium secundum center of the atrial septum. Most common
type and usually asymptomatic if small and discovered
accendentally.
▪Sinus venosus high in the atrial septum usually asymptomatic .
Clinical Signs & Symptoms:

it depend on the size of the defect and the amount of

pulmonary vascular resistance
Isolated small ASD’s rarely cause symptoms during infancy.
On ouscultation: fixed widely split Second Heart sound,
II-III/VI systolic ejection murmur at Upper Left Sternal
Border and Mid-diastolic murmur over LLSB.
infants and children with large ASD present with CHF
,hyperactive precordium, RV heave.
Mode of diagnosis:
CXR: if small ASD ..normal ..
large ASD Enlarged heart and PA, increased lung
vascularity.
ECG: vary from normal to Rt axis deviation ,RBBB and
RVH if HF biventricular Hypertrophy
ECHO: Diagnostic
The fate or prognosis of ASD:
Spontaneous closure: can happened with small defect , Rare
if defect >8 mm at birth.
Rare after age of 2 years and unlikely for ASD primum.
Method of closure: Transcatheter device closure ,Surgical
closure
Ideal age of closure of ASD :
1. In asymptomatic child: 2-4 years.
2. Symptomatic with signs of H.F with valve defect and/or
develop Pulmonary Hypertension needs closure in infancy.
3. If presented or diagnosed beyond ideal age: Elective closure
whenever diagnosed
Complication of ASD
Dysrhythmia
Heart Failure if large or with valve defect
NOTE:
ASD • is Low flow lesion does not require endocarditis
prophylaxis
Ventricular Septal Defect
VSD
 It is the most common Congenital Heart Disease , Accounts for
25% of CHD, There are 2 anatomic types:
▪Perimembranous The defect in Upper portion of septum (it is
the most common (80%) but only up to 35% can close
spontaneously ).
▪Muscular In the muscular portion of ventricular septum. Multiple
defects may be present and referred to as ‘swiss cheese’ defects
(up to 85% can close spontaneously if small) .
 Clinical presentation of VSD :
It depends on the size of the defect and the amount of
pulmonary vascular resistance.
Small VSD: Patient usually asymptomatic discovered on routine
examination,
Moderate and large VSD: Symptoms may be started in the first
few weeks of life (4-8W). Dyspnea, Growth failure,recurrent
LRTI,Congestive heart failure,
On examination:
Small VSD: loud, pan-systolic murmur at lower left sternal border.
Moderate and Large VSD: pansystolic murmur with load P2 and
middiastolic murmur at the apical area.
CXR: depend on the size of the defect if small normal CXR to mild
enlargement to severe Cardiomegaly, Enlarged LA and LV, Increase
vascularity in large defect
ECG: as for CXR ..may be normal in small defect and LAD, LAE
to left or Biventricular hypertrophy in large defect.
ECHO: Diagnostic
 The expected fate or prognosis of VSD :
Spontaneous closure is expected for small VSD
it is uncommon in large VSDs (larger 1cm).
30%-40% of moderate or small defects close spontaneously by
3-5 years of age.
Indications for surgical Closure:
▪Large VSD with medically uncontrolled symptoms with Failure
to thrive.
▪Ages 6-12 mo with large VSD and Pulmonary HT
▪Age > 24 mo with Qp:Qs ratio > 2:1.
▪If the defect is Subpulmonic of any size, due to risk of
developing valvular insufficiency.
▪ Method of closure:
Surgical closure, Transcatheter device closure

COMPLICATION OF VSD:
Large defect can cause HF , Failure to thrive
infective endocarditis and Pulmonary Hypertention.

pulmonary hypertension in its severe persistant form cause

irreversible PHT( Eisenmenger syndrome) that needs
cardio-pulmonary transplantation
 Eisenmenger syndrome :

Transformation of any untreated left to right shunt into

bidirectional or right to left shunt
characterized by cyanosis results from high pulmonary blood
flow causing medial hypertrophy of pulmonary vessels and
irreversible increased pulmonary vascular resistant
It mostly Beyond surgical correction and needs
cardio-pulmonary transplantation.
AV Canal Defect
 Atrioventricular canal (AVC) defect may be complete or partial.
•Complete AVC is a communication between both the atria and
the ventricles, as well as failure of the tricuspid and mitral valve
rings to develop separately. There are varying degrees of
abnormality in the atrial and ventricular septum and the AV
valves, resulting in many variations of severity and symptoms. It
is usually severe with early presentation with poor prognosis if
not corrected early.
•Partial AVC only an ASD primum is present along with a cleft in
the mitral valve.
• Clinical features:
• depend on the size and site of shunting and AV valve
regurgitation.
• Symptoms:
• Partial AVC may be indistinguishable from ASD primum .
• Complete AVC usually early symptomatic, may be presented
with Congestive heart failure in infancy, Recurrent pulmonary
infections, Failure to thrive, Exercise intolerance, easy
fatigability. Late cyanosis from pulmonary hypertension.
Signs:
Hyperactive precordium, Normal or accentuated 1st hrt sound,
Wide, fixed splitting of S2, Pulmonary systolic ejection murmur
with thrill, Holosystolic murmur at apex with radiation to axilla,
Mid-diastolic rumbling murmur at LSB

CXR: RA, LA and LV dilation, increase lung vascularity

ECG: LAD, RBBB

ECG: LAD, RBBB

Method of closure: Surgical closure
Timing of intervention
• Complete AVSD with uncontrolled congestive HF: Surgery as
soon as possible; complete repair / pulmonary artery banding
• Complete AVSD with controlled HF: Complete surgical repair
by 3-6 months of age, Pulmonary artery banding if risk of PHT is
considered high .
• Partial AVSD, stable: Surgery at about 2-3 yrs of age
NOTE: A-V Canal is the most common congenital heart lesion
seen among children with Down’s Syndrome (trisomy 21) with
high chance to develop early Pulmonary Hypertension.
12 months with severe SOB + large ASD ,
PHT,Pneumonia
5 months infant with large
Atrio-ventricular Defect
Patent Dactus Arteriosus
PDA
Anatomy
The ductus arteriosus is a communication between the
pulmonary artery and the aortic arch distal to the left subclavian
artery. Patent ductus arteriosus (PDA) is the failure of the fetal
ductus arteriosus to close after birth.
There is Left to right shunting and the degree of symptoms is
determined by the differences in systemic and pulmonary
vascular resistance, and the size of the PDA.
Clinical Signs and Symptoms

Small PDA are usually asymptomatic

Large PDA can result in symptoms of CHF, growth restriction,

FTT.

Bounding arterial pulses, Widened pulse pressure , Enlarged

heart, prominent apical impulse, Classic continuous machinary
systolic murmur below the left clavicle at mid-axillary line
Mid-diastolic murmur at the apex
CXR: vary from Normal… to huge Cardiomegaly (LVE, LAE,
Dilated PA), increase lung vascularity
ECG: Normal……LAE, LVH
treatment:
may close spontaneously in premature baby ( avoid excess fluid to
facilitate closure.
Non-steroidal drug such as brufen or indomethacin can be used
Transcatheter surgical closure for persistent duct.
Complications:
congestive heart failure
infective endocarditis
 pulmonary stenosis PS

Pulmonary stenosis (PS) is a narrowing that obstructs blood flow from

the RV. It may be subvalvular, valvular, supravalvular or in the pulmonary
arteries. When this presents in neonates, it is referred to as ‘critical
pulmonary stenosis’. Pulmonary stenosis may be mild, moderate or
severe.
mild P.S. is Usually asymptomatic, there is Ejection systolic murmur at
Upper left sternal border (pulmonary area)
Requires regular follow up for signs of progression of the stenosis.

The symptoms increase by increase age of the child and the severity
of stenosis.
ECG: Rarely normal, RAD, RAE.
Requires a balloon valvuloplasty or surgical valvotomy. For critical
PS in the neonatal period, PGE infusion is provided to maintain
patency of the ductus arteriosus.

The prognosis :
Can progress and needs follow up annually to detect more severe
stenosis from secondary subvalvular muscular and fibrous
hypertrophy.
there is risk for endocarditis
Aortic stenosis AS
 Anatomy
Aortic Stenosis (AS) is a narrowing that obstructs blood flow from the
left ventricle, leading to LVH and/or aortic insufficiency. AS may be
mild, moderate, or severe. When this condition presents in neonates, it
is referred to as ‘critical aortic stenosis’..
It is important to note, aortic stenosis like pulmonary stenosis is a
progressive disease that requires serial evaluation
✔Most patients are asymptomatic during childhood except those with
severe AS
✔Normal growth and development is the rule
✔Most common symptom is easy fatigability,syncope
✔Angina and syncope occur in 10% of patient with severe AS
SIGNS…..thrill, ejection systolic murmur at RUSB
CXR: Normal…cardiomegaly (LVH), LAE (Severe AS), Dilated asc AO
Coarctation of Aorta COA
 COA is a narrowing in the aortic arch.
Clinical Features:
✔Symptoms and signs of CHF in neonate and infant if
severe narrowing
✔Cardiac murmur (ejection systolic at ULSB, Base or
left interscapular area)) at childhood
✔High blood pressure at childhood and adolscent
✔Acute circulatry collapse and shock in neonate after
closure of the PDA
✔The HALLMARK SIGN of COA is the discrepency in
arterial pulses and blood pressure between upper and
lower extremities (hypertension in upper limbs and
poor perfusion in lower limbs
✔Should be suspected in asymptomatic child with
hypertension
CXR:
Cardiomegaly, Increase lung
Vascularity
Children and adolscent:
Normal….Mild cardiomegaly
Rib notching from collateral rib arties
hypertrophy
ECG:
Infant: Generally normal
Older: LVH
ECHO:
Diagnostic
Management : Surgery, Balloon, Stent
Tetralogy of Fallot TOF
Tetrology of Fallot (TOF) is the most common cyanotic
congenital heart defect.
It is characterized by the association of 4 cardiac
abnormalities:
1.malaligned VSD,
2.pulmonary stenosis,
3.overriding aorta and
4.right ventricular hypertrophy.
Some infants with mild TOF may be referred to as a
‘pink’ TET, if no cyanosis is present.
.
The hemodynamic changes and the degree of cyanosis that
occur as a result of TOF are directly proportional to the degree
of right ventricular outflow tract obstruction (RVOTO), and
the resulting limitation to pulmonary blood flow.
If RVOTO is mild, there is minimal shunting of blood from
right t to left across the VSD mainly at exertion.
If severe RVOTO is present, a large amount of blood shunts
from right to left, producing systemic arterial oxygen
desaturation which can lead to severe cyanosis, hypoxemia and
acidosis (cyanotic spell) .
Cyanotic spells:
Are acute episodes of arterial oxygen desaturation secondary to
intermittent worsening of pulmonary blood flow (RVOTO)
causing right to left shunting across the VSD.
Peak incidence of cyanotic spells early infancy( 2-4 months )
Characterized by: Rapid and deep respirations Irritability ,
prolonged crying ,deep cyanosis, Decreased or absent heart
murmur.
Clinical Manifestations
Infants with mild degrees of RV outflow obstruction may
initially even have symptoms of heart failure caused by a
ventricular-level left-to-right shunt.
In these patients, cyanosis is not present at birth; but with
increasing hypertrophy of the RV infundibulum as the patient
grows, cyanosis occurs later in the 1st few months of life.
In contrast, in infants with severe degrees of RV outflow
obstruction, neonatal cyanosis is noted immediately.
All degrees of variation exist between these 2 clinical extremes
Older children with long-standing cyanosis who have not
undergone surgery may have dusky blue skin, gray sclerae with
engorged blood vessels, and marked clubbing of the fingers and
toes
In older children with unrepaired tetralogy, dyspnea occurs on
exertion. They may play actively for a short time and then sit or
lie down.
Characteristically, children assume a squatting position for the
relief of dyspnea caused by physical effort ( by squatting
position they increase vascular resistance to decrease blood
return to the heart and then decreasing right to left shunt)
The murmur is generally ejection in quality at the upper sternal
border, but it may sound more pansystolic toward the lower
sternal border.
The murmur is caused by turbulence through the RVOT. It
tends to become louder, longer, and harsher as the severity of
pulmonary stenosis increases from mild to moderate; however, it
can actually become less prominent with severe obstruction,
especially during a hypercyanotic spel
Treatment:
beta-blocker e.g: propranolol , correct anemia prepare for
surgery.
Treatment for cyanotic attacks or spells:
Hold infant in lateral knee-chest position
oxygen
Morphine
Sodium bicarbonate to treat acidosis- decreases resp stimulating
effect of acidosis
Vasoconstrictor (phenylephrine)
Beta –blocker Propranolol
Correction of any associated
comorbidities…dehydration,hypoglycemia,…
All patients need surgical repair
Timing of surgery:
• Stable, minimally cyanosed: Total correction
at 1-2 years of age or earlier according to the
institutional policy
• Significant cyanosis (SaO2< 70%) or history
Of recurrent spells despite therapy…At infancy
Complication :
Less if corrected early
Pre-operative complications:
1. Cerebral Thromboses : occur most often in patients younger
than 2 yr.
2. These patients may have iron deficiency anemia, frequently
with hemoglobin and hematocrit levels in the normal range (but
too low for cyanotic heart disease)
3.polycythemia can develop in unrepaired TOF secondary to
chronic hypoxia
4. brain abscess events can occur and are usually happened in
older than 2 yr child.
 5. Bacterial endocarditis may occur in the right ventricular
infundibulum or on the pulmonic, aortic, or rarely tricuspid valve.
Endocarditis may complicate palliative shunts or, in patients with
corrective surgery, any residual pulmonic stenosis or VSD.

6.Heart failure is not a usual feature in patients with tetralogy of

Fallot, with the exception of some young infants with “pink” or
acyanotic tetralogy of Fallot. As the degree of pulmonary
obstruction worsens with age, the symptoms of heart failure
resolve, and eventually the patient experiences cyanosis, usually by
4-6 mo of age.
D.TGA
In Dextroposition-Transposition of the Great Arteries
(D-TGA) the aorta arises from the anatomic right ventricle and
the pulmonary artery arises from the anatomic left ventricle.. A
VSD is present in 40% of patients with D-TGA.
Clinical features:
Depend on anatomy present
No mixing lesion and restrictive PFO
Profound hypoxia,cyanosis may be from birth, Rapid
deterioration , Death in first hours of life,
NO respiratory symptoms or limited to tachypnea ,
Single second heart sound, no murmurs
Mixing lesion present (VSD or large PDA)
initially Cyanosis progress with time (2-3 DAYS), , PROGRESS TO
CHF in first 2-4 months of life, excessive sweating (a cold, clammy
sweat often noted during feeding); poor feeding, slow weight gain,
irritability or lethargy, and/or rapid breathing

CXR Egg
Egg shaped cardiac silhouette
Narrow superior mediastinum
Management:
Initial management is aimed at increasing arterial oxygenation
by:
PG E infusion to establish patency of the ductus arteriosus
Balloon atrial septostomy, Rashkind Procedure (Palliative), to
increase mixing at the atrial level.
Diuretics are indicated if pulmonary edema is noted.
Surgery is performed within the first 2 weeks of life.