Pediatric Cardiology [Year]

Cardiac Evaluation:
History:
Children dont present with the typical features of CHF as in adults (orthopnea and
nocturnal dyspnea are RARE findings in children)
- Age is very important when assessing a child:
Infants with heart failure present with:
- Feeding difficulties
- Poor wt. gain / wt. loss
- Sweating while feeding
- Tachypnea
- Easily fatigued
Older children present with signs and symptoms more like those seen in adults:
- Shortness of breath
- Dyspnea on exertion
Physical Examination:
- Assess HR and RR according to age
- Height and weight assessment
- ALWAYS get upper and lower extremity BP and pulses regardless of age ( adult form
coarctation)
- Hepatosplenomegaly RHF
- Rales on auscultation suggestive of pulmonary edema and LHF
- Cyanosis and clubbing from chronic prolonged hypoxia

Note: jugular vein distension is hard to find in infants because they have short thick
necks (not seen in infants)
Heart murmur gradation:
Grade Quality
1 Soft, difficult to hear (needs quite condition to be heard)
2 Easily heard ( could be pathological)
3 Louder but no thrill
4 Associated with thrill
5 Thrill; audible with edge of the stethoscope
6 Thrill; audible with stethoscope off chest
Note:
Any murmur with a grade of 3-6 is ALAWYS pathological and CANT be innocent.
Diagnostic tests: ( age dependent)
Chest radiographs:
Evaluate:
- Heart size
- Lung fields
- Ribs for notching
 Pediatric Cardiology [Year]

- Position of great vessels

Electrocardiogram ECG
Echocardiography- definitive diagnosis: best test for diagnosing all CHD
Others:
- MRI - Catheterization - Angiography - Exercise testing ( stress testing inn older
children)
Innocent murmurs:
- Also known as functional, normal, insignificant or flow murmurs. These result from
(turbulent) blood flow through a normal heart, vessels and valves.
They are easily heard in children because children have a higher HR, higher flow rate
and thinner chest walls.
- More than 30% of children ages 3-7 years may have an innocent murmur heard at
some times in their lives.
- Presentation:
Usually heard on routine PE; also easily heard in conditions where HR is
increased as in fever, anxiety or infection.
NEVER diastolic
NEVER greater than grade 2/6
Soft, vibratory and musical at the left lower mediastinum
- No diagnostic tests done and you just need to reassure the parents.

Murmur Age Location Characteristics

Stills murmur Ages 2-7 years Mid-left sternal border Grade 1-2, systolic
vibratory=buzzing=twanging
Loudest when supine
Louder with exercise
Pulmonic Any age Upper left sternal Grade 1-2, peaks early in systole
systolic border Blowing, high pitched
murmur Loudest when supine
(systolic Louder with exercise
ejection
murmur)
Venous hum Any age but Neck and below the Continuous murmur
especially school clavicle Heard only when sitting or standing
age Disappears if supine; changes with
jugular vein compression or with neck
flexion or extension

Fetal circulation ( quick review):

- Oxygenated blood from the placenta is carried through the umbilical VEIN and
eventually drains into IVC, then the right side of heart.
 Pediatric Cardiology [Year]

(Remember a vein is any vessel that carries blood TO the heart and an artery is any
vessel that carries blood AWAY from the heart REGARDLESS of oxygen content)
- Most of the blood crosses the foramen ovale into the left atrium Left
ventricle systemic circulation
- Some of the blood gets into the right ventricle; some of that blood is pumped into
the aorta via the ductus arteriosus. (mixing takes place)
- When the baby is delivered, the cord is clamped and the baby takes starts to
breathe which reduces the pulmonary vascular resistance allowing the blood from
the right ventricle to be pumped into the lungs for oxygenation.
- Oxygen tension closes the ductus arteriosus
- Systemic vascular resistance starts to increase (normal circulation).
Congestive heart failure:
Definition: inadequate oxygen delivery by the myocardium to meet the metabolic
demands of the body.
Pathophysiology: the signs and symptoms of CHF are due to compensatory mechanisms
that further increase the demands on an already compromised myocardium.
1. Hypoperfusion of end organs causes the heart to pump more for forcefully and at a
higher rate (increased contractility and HR)to increase the cardiac output.
2. Hypoperfusion of the kidneys causes them to retain salt and water to increase blood
volume. (RAAS)
3. Catecholamines released by SANS increase the HR and contractility.
Etiology:
1. Congenital heart disease CHD:
- Due to increased pulmonary blood flow as in large VSD/ large PDA/ transposition of
the great arteries TGA/truncus arteriosus/ total anomalous pulmonary venous
connection TAPVC
- Due to obstructive lesions as in severe aortic, pulmonary, mitral valve stenosis /
caorctation of aorta/hypoplastic left heart/ interrupted aortic arch.
- Other causes: AV malformations / Mitral, tricuspid regurgitation ( overload the
heart)
2. Acquired heart disease:
- Infections ; viral myocarditis (common in older children and adolescents)
Endocarditis/ pericarditis.
- Metabolic (hyperthyroidism)
- Medications ( doxorubicin a chemotherapeutic agent)
- Cardiomyopathies
- Ischemic heart disease
- Dysrhythmias
3. Miscellaneous causes :
- Severe anemia ( high output CHF)
- Rapid IV infusion eps. In preterm
 Pediatric Cardiology [Year]

- Chronic hypoxia due to airway obstruction ( right sided heart failure)

Enlarged tonsils or adenoids/ CF
Clinical features:
1. Pulmonary congestion- tachypnea, cough, wheezing and rales. Pulmonary edema on CXR
2. Systemic venous congestion: hepatomegaly, peripheral edema
3. Impaired cordial performance- tachycardia, sweating, pale or ashen (very pale) skin,
diminished urine output. Enlarged cardiac silhouette on CXR.
4. Others: FTT/ poor feeding ( common in newborns) and exercise intolerance ( common in
older children and adolescents)
5. Cyanosis and shock are late manifestations.
Management:
1. Medical management: improves myocardial function and relieve pulmonary and systemic
congestion.
Cardiac glycosides (digoxin); increase the efficacy of myocardial contractility and
relieve tachycardia.
Loop diuretics ( furosemide, ethacrynic acid); maximize sodium loss to reduce the
intravascular volume ( reduce afterload on the heart diminish ventricular
dilation)
IV inotropes (dobutamine, dopamine) for severe CHF
Amrinone, milrinone (phosphodiesterase inhibitors) improve contractility and
reduce the afterload.
2. Interventional catheterization procedures (e.g., balloon valvuloplasty for critical aortic and
pulmonary stenosis)
3. Surgical repair: the definitive treatment of CHF secondary to CHD.

Congenital heart disease:

Introduction:
- Mostly diagnosis is usually made by 1 month (some can be picked up by a fetal
echo)
- Murmurs may not be heard in early life because of increased pulmonary vascular
resistance ( from fetal to neonatal transition physiology); it takes about 4-6 months
for the pulmonary vascular resistance to be normal.

- Etiology:
Most are unknown
Associated with teratogens such as alcohol ( fetal alcohol syndrome) and
rubella
Genetic predisposition : trisomies ( trisomy 21), Marfan, Noonan, DiGeorge
syndromes
 Pediatric Cardiology [Year]

- Classification:
Shunting
Regurgitant Stenotic Right to left Left to right Mixing
Mitral valve Aortic stenosis TOF most common PDA Truncus
prolapse cyanotic CHD

Pulmonic / Aortic Pulmonic stenosis Ebstein anomaly VSD most common Total anomalous
insufficiency CHD (isolated or pulmonary venous
with other CHD return
defetcs)

Mitral/ tricuspid Coarctation Tricuspid atresia ASD, Hypoplastic left

insufficiency Endocardial heart, transposition
cushion defect
 Pediatric Cardiology [Year]

Acyanotic congenital heart disease / Left to Right Shunts:

Atrial septal defect ASD:
Classification:
Ostium primum
Location Lower atrial septum
Notes -common in Down Syndrome
-anterior mitral valve leaflet cleft
or deviation may be present
casing mitral valve regurgitation.
Ostium secundum
Middle part of atrial septum in the
region of the fossa ovalis
The MOST COMMON type of ASD
Sinus venosus
High in the septum near
the junction of the right
atrium and SVC
The right pulmonary veins
drain anomalously into
the right atrium or SVC
instead of into the left
atrium

Pathophysiology:
Blood flows across the ASD from higher resistance to lower resistance; from the left
atrium to the right atrium. This increases the size of the right atrium and right ventricle
and increases pulmonary blood flow.
Clinical features
- Few symptoms early in life if any because of the structure of low flow
The atria re not high pressure nor high flow chambers and therefore there isnt a lot
of shunting of blood from L to R
In older children with large defects, there could be exercise intolerance (often 3rd
decade of life)
o If the defect does not close spontaneously there will be persistent shunting
from left to right that could end up in eisenmenger complex BUT AFTER
REALLY LONG PERIOD OF TIME (less flow than in VSD)
- Ostium primum ASD with MV regurgitation is an exception; pt. could develop CHF
physical examination findings:
1. Systolic ejection murmur from excessive pulmonary blood flow best heard at mid
and upper left sternal borders. (NOT the sound of the blood rushing through the
defect)
2. With hemodynamically significant lesions also a low-pitched mid-diastoilc filling
rumble representing excessive blood flow through the tricuspid valve best heard at
the lower sternal border.
3. Wide fixed splitting of the second heart sound S2. (in ASD the right side of the heart
is always receiving excess blood requiring more time to empty and therefore longer
time for the pulmonic valve to close) due to increased pulmonary blood flow, the
normal physiologic variation in timing of aortic and pulmonic valve closure with
respiration is absent.
4. Increased right ventricular impulse due to right ventricular overload.
 Pediatric Cardiology [Year]

Diagnosis:
- Echocardiogram is the best definitive test
- CXR:
Right atrial and right ventricular enlargement
Increased pulmonary vascular markings and pulmonary edema

- ECG:
Right axis deviation RAD
Right ventricular hypertrophy RVH
Right atrial enlargement RAE
Complications:
- Atrial dysrhythmias
- Paradoxical embolism
- Right ventricular heart failure
- Pulmonary hypertension
(Low flow lesion so doesnt require endocarditis prophylaxis)
Treatment:
- Most in term infants it closes spontaneously; symptoms often dont appear until
third decade
- If symptomatic:
Closure by open heart surgery or
Transcatheter device closure (interventional catheterization procedures)

Ventricular septal defect VSD:

The most common CHD
Classification based on location:
- Most are membranous
- Muscular (trabecular)
- Inlet
- Outlet ( supracrista)
Pathophysiology:
Blow flows through the VSD from the left ventricle to right ventricle due to decreased
pulmonary resistance after birth.
Clinical features:
Depend on the degree of L to R shunt which in turn depends on the pulmonary vascular
resistance and the size of the VSD.
- Small VSD:
May close spontaneously
Little or no shunting
 Pediatric Cardiology [Year]

PE:
1. Grade 4-harsh high pitched (from high flow velocity across a very
restrictive small defect) HOLOSYSTOLIC murmur at the lower left
sternal border + thrill
S2 widely split
Note: as the size of the VSD decreases, the intensity of the murmur
increases
- Moderate VSD:
Large shunt resulting in CHF
Holosystolic murmur at lower left sternal border (intensity depends on the size
of shunt)
Low-pitched diastolic rumble across the mitral valve best heard at the apex
(mitral filling rumble due to excess blood from the lungs passing through the
mitral valve)
This occurs if there is excessive blood flow across the VSD
2:1 pulmonary to systemic flow; blood flow to the lungs is twice as
much as blood flow to the systemic circulation
- Large VSD:
CHF (dyspnea, feeding difficulties, poor growth, sweating), higher incidence
of pulmonary infections from excessive blood flow
Systolic murmur is shorter lower in pitch (less turbulence across large VSD)
Mitral diastolic filling rumble heard best at the apex.
Diagnosis:
- Echocardiogram is definitive
- CXR: 1st test to do
Small VSD: normal CXR
Moderate-large: cardiomegaly and increased pulmonary vascular markings/
pulmonary edema
If pulmonary vascular resistance is elevated there will be decreased
pulmonary vascular markings
- ECG:
Small: normal or mild LVH
Moderate: LVH
If pulmonary hypertension is present: RVH
Eventually with time there could be biventricular hypertrophy
Complications:
- Large defects lead to CHF ,FTT
- Endocarditis (any high flow lesion is at risk of endocarditis; needs prophylaxis for
dental procedure)
- Pulmonary hypertension:
 Pediatric Cardiology [Year]

o With time the pulmonary vessels hypertrophy (medial layer) in response to

increased pulmonary blood flow. This hypertrophy increases pulmonary
vascular resistance.
o The right ventricular impulse is increased
o Single loud S2
o The increase in PVR decreases the amount of shunt ( decrease pulmonary
blood flow and less blood going to left atrium, CHF symptoms may diminish)
This causes the mitral filling rumble to disappear
o If PVR becomes high enough to exceed the systemic vascular resistance, it
can reverse the shunt from left to right shunt to become right to left shunt
Eisenmenger syndrome characterized by cyanosis.
This requires heart-lung transplant

Treatment:
- Small MUSCULAR VSD are more likely to close in the first two years of life than
MEMBRANOUS ( as the child grows, the heart grows and the muscles grow closing
the defect)
- Medical management of CHF for symptomatic children with moderate to large VSD
as they are less likely to close. ( control CHF and prevent pulmonary vascular
disease)
- Surgical closure is indicated in the following circumstances:
Heart failure refractory to medical management
Large VSDs with pulmonary HTN are usually surgically closed at 3-6 months
of age.
Small to moderate VSDs are usually surgically closed between 2 and 6 years
of age.
You treat CHF medically and wait till the child is a bit older so that the
surgery is easier to perform

Endocardial cushion defect:

Patients with trisomy 21 are at a higher risk for endocardial cushion defects.
Pathophysiology:
The endocardial cushion is where the valve and septum originate so a defect results
in:
- ASD + VSD + atrioventricular valve insufficiency esp. mitral valve; increases volume
load on the ventricle resulting in early heart failure, infections, minimal cyanosis,
hepatomegaly and FTT
- Left to right shunts at both atrial and ventricular levels ; some right to left shunting
with desaturation (mild, intermittent cyanosis); it is a left to right shunt but it can
 Pediatric Cardiology [Year]

quickly become R to L shunt; there is so much blood shunting occurring here

Eisenmenger syndrome
Physical examination:
Heart failure early in infancy (hepatomegaly, FTT); high degree of shunting
Eisenmenger occurs earlier
Moderate-to-severe increase in heart size with hyperdynamic precordium (precordial
bulge and lift)
Widely fixed split S2 (like an isolated ASD)
Loud Pulmonary systolic ejection murmur with a thrill at the mid and upper left sternal
border
Low-pitched diastolic rumble at the apex/ bilateral diastolic flow murmurs from
insufficinecy
Apical harsh holosystolic murmur radiating to the axilla due to MV insufficiency
Diagnostic test:
- Echocardiogram is the gold standard
- CXR:
Significant cardiomegaly
Increased pulmonary blood flow and edema
- ECG:
Biventricular hypertrophy
RAE
Superior QRS axis
Complications:
- Without surgery- death from CHF
- With surgery- arrhythmias, congenital heart block
Treatment:
Surgery must be performed in infancy; surgery is more difficult with heart failure and pulmonary
HTN (increased pulmonary artery pressure by 6-12 months of age)

Patent ductus arteriosus:

Definition and pathophysiology:
Failure of the ductus arteriosus to close after birth resulting in blood flow from the aorta to the
pulmonary trunk and a subsequent increase in pulmonary blood flow (right to left shunt)
Risk factors:
1. Prematurity (developmental not heart disease)
2. Associated with maternal rubella infection
3. More common in girls by 2:1

Clinical presentation: depend on the size of PDA and SVR and PVR
- Small PDAs are asymptomatic
- Moderate or large PDAs present with:
 Pediatric Cardiology [Year]

CHF; increased pulmonary blood flow

Bounding arterial pulses/ brisk pulses
Wide pulse pressure ( 30 mm Hg); decreased blood pressure (primarily
diastolic)the difference between systolic and diastolic blood pressures
increases as the blood runs off through the PDA
Hyperdynamic precordium

Physical examination:
Classic machinery like continuous murmur at the upper left sternal border
Diastolic rumble of blood across the mitral valve heard at the apex- with large L to R
shunts
Brisk pulses and wide pulse pressure
Diagnostic tests:
1. Echocardiogram- increased left atrium to aortic root; ductal flow esp. in diastole
2. CXR:
Cardiomegaly
Increased pulmonary vascular markings and edema
3. ECG:
LVH then BVH
RVH if pulmonary HTN is present
Complications:
1. CHF; pulmonary HTN
2. Infective endocarditis
Treatment:
- May close spontaneously- if a PDA persists beyond the first week of life, it is unlikey
to close spontaneously
- Indomethacin ( PG synthase inhibitor) in preterm closes the PDA
- PDA could be surgically closed as well; Surgical ligation. This is needed for term
infants with PDA as they are not as responsive to indomethacin as preterm infants
 Pediatric Cardiology [Year]

Stenotic lesions:
Coarctation of the aorta:
Definition:
Narrowing at any point from transverse aortic arch to iliac bifurcation; 90% are just below the
origin of the left subclavian artery at or just proximal to the ductus arteriosus; juxtaducxtal
coarctation
Pathophysiology:
The narrowed segment obstructs or diminishes flow from proximal to distal aorta.
Coarctation of the aorta has a high association with Turner Syndrome (70% with bicuspid
aortic valve)
Adult versus childhood ( signs and symptoms depend on the severity of the obstruction
and on the presence of any other cardiac abnormalities)
- Discrete juxtaductal coarctation (adult type); mild form
o The narrowing is BELOW the origin of the ductus arteriosus
o Ascending aortic blood flows normally through narrowed segment to reach
descending aorta but there is left ventricular hypertrophy and hypertension.
o If mild, it is not recognized until later in life.( not severe= better flow= takes
more time to manifest) could be asymptomatic with only HTN or a heart
murmur.
o Increased blood pressure in vessels proximal to coarctation and decreased
blood pressure and pulses below the coarctation
Femoral and other lower pulses are weak or absent; bounding in
arms and carotids , also delay in femoral pulse compared to radial
pulse (femoral normally occurs slightly before radial); radio-femoral
delay
Normally, leg systolic pressure is 10-20 m Hg higher than in arms; in
coarctation, leg systolic pressure is decreased ( 5%)
Right arm pressure greater than left arm pressure is suggestive of
left subclavian artery involvement (HTN typically noted at the right
arm)
Short systolic murmur along left sternal border at third-to-fourth
intercostal space left scapula and neck
Bruit of turbulence through the coarcation may be audible at the
left upper back near the scapula
Bicuspid aortic valve or aortic stenosis is present in 50% of patients
resulting in a systolic murmur

o HTN due to mechanical and neurohormonal reasons

o Over time, the pt. develops an extensive collateral circulation; internal
mammary artery, intercostal artery and blood pressure and pulse findings
 Pediatric Cardiology [Year]

would be less prominent in this case ( systolic or continuous murmurs over

left and right sides of chest with thrills)
Rib notching (dilated intercostal arteries)

- Tubular hypoplasia ( preductal, infantile form)

o SEVERE narrowing starting at one of the head or neck vessels and extending to
the ductus
o The narrowing is BEFORE the ductus and therefore the Right ventricular blood
flows across the PDA to supply the descending aorta so the perfusion of the lower
part of the body is dependent upon right ventricular output ( although this blood
is deoxygenated, it has some O2 in it that the tissue can extract) this is R to L
shunt
o Seen as differential cyanosis- upper body is pink (the obstruction is not
affecting blood flow to upper extremity) , lower is cyanotic; prominent heart
failure as ductus closes ( if completely atretic = interrupted aortic arch)
Minimally symptomatic initially but symptoms of CHF develop as the PDA closes.
o Presents with:
Lower body hypoperfusion ( sudden decrease in perfusion as the ductus
closes)
Acidosis
Severe CHF with ductal closure
Systolic murmur along left sternal border
Large heart

Note that the BP may be elevated in the upper extremities and low in lower
extremities before the onset of CHF.

Once the infant develops CHF, pulses in all 4 extremities are poor, any
murmur is absent and hypotension may develop.

Diagnosis:
- Echocardiogram is the gold standard
- CXR:
Severe infantile form- increased heart size and pulmonary congestion
Adult type- findings usually occur after first decade:
o Increased size of subclavian artery- prominent shadow in left
superior mediastinum
o Notching of inferior border of ribs from passive erosion of increased
collaterals in late childhood (increased blood flow through the
intercostal arteries)
 Pediatric Cardiology [Year]

o Post-stenotic dilatation of ascending aorta

- ECG:
In neonates: biventricular hypertrophy
In older children: LVH

Complications:
1. Associated cerebrovascular disease
2. Systemic HTN ( coarctation should be suspected in an asymptomatic child with HTN)
3. Endocarditis
4. Aortic aneurysms

Treatment:
- Neonates:
- Initial management
o PGE1 IV infusion to maintain patent ductus which establishes adequate
lower extremity blood flow; surgery after stabilization
o Inotropic medications to overcome myocardial depression an low dose
dopamine is used to maximize renal perfusion and function
- Corrective surgery:
1. Surgery involves excision of the narrowed segment followed by end-to-end
anastomosis. Late recurrence of narrowing may occur in up to 50% of
patients.
2. Balloon angioplasty may be successful in coarcatations that have not
undergone surgical correction and is the therapy of choice for recurrent
coarctation.
- Adult treat CHF and HTN then follow with surgery
 Pediatric Cardiology [Year]

Prognosis:
Excellent but long-term concerns include recurrence of coarctation and upper extremity
HTN with exercise.

Pulmonic stenosis:
Definition and pathophysiology:
- Narrowing of the pulmonary valve; valve commissures are fused with deformed
cusps that dont open completely during systole
- It acts as right ventricular outflow obstruction which increases systemic pressure
and wall stress resulting in RVH; right ventricular pressure increased , right
ventricular output reduced ( depends on severity of pulmonary stenosis)
- Arterial saturation would be normal unless there is ASD or VSD (R to L shunt; blood
takes the path of least resistance)
- Neonates with critical severe pulmonary stenosis have R to L shunt via foramen
ovale resulting in Cyanosis

Physical examination and clinical features:

1. Most children have mild to moderate obstruction and are asymptomatic.
2. Moderate to severe stenosis present with cyanosis ( R to L shunt via foramen ovale)
and signs of right ventricular failure (hepatomegaly, peripheral edema, exercise
intolerance)
Neonates with critical severe pulmonary stenosis have R to L shunt via foramen ovale
resulting in Cyanosis.
3. Auscultation findings:
Pulmonary ejection click after S1 in left upper sternal border and normal S2 (in
mild)
Short low-to-medium pitched systolic ejection murmur at upper left sternal
border(2nd -3rd left ICS) radiating to both lung fields
Worsening : decreased S2, harsher murmur (faster flow)

Diagnosis:
1. Echo is the gold standard
2. CXR:
Normal to increased heart size ( right ventricle)
Prominent main pulmonary artery; post-stenotic dilatation of pulmonary artery
Decreased pulmonary vascularity; due to decreased blood flow to the lungs =
lungs look more back (darker)
3. ECG:
Moderate to severe stenosis: RVH
Right atrial enlargement RAE- tall, spiked P-waves
Complications:
 Pediatric Cardiology [Year]

1. CHF
2. Endocarditis (lower risk)
3. Secondary subvalvular muscular and fibrous hypertrophy.
Treatment:
1. Balloon valvuloplasty initially (breaks up the stenotic valve) for symptomatic infants
with moderate to severe stenosis and for children with significant gradient across
pulmonary valve ( 35-40 mm Hg) or high right ventricular pressure; may need surgery
2. Neonate with critical stenosis- emergent surgery
Pt. may have PV regurgitation after any procedure

Aortic stenosis:
Definition and pathophysiology:
Narrowing of the aortic valve with commissural fusion of the three normal leaflets
resulting in bicuspid aortic valve (mostly) or uni-caspid valve.
This stenosis reduces the left ventricular output with an imbalance between myocardial
oxygen demand and supply (O2 demand now even higher due to increased ventricular
work against the stenosis). This leads to myocardial ischemia.
In neonates, severe aortic stenosis may be associated with hypoplasia of the left
ventricle.
Classification based on the location:
1. Valvular
2. Supravalvular (least common)
3. Subvalvular stenosis: fibromuscular shelf or markedly hypertrophied septum ;
idiopathic hypertrophic subvalvular stenosis IHSS
Clinical features: depend on the severity of the stenosis:
- Neonates with severe critical aortic stenosis appear normal at birth but
develop left ventricular heart failure at 12-24 hours of age as the PDA closes
(decreased cardiac out and perfusion); intensity of the murmur may be minimal
due to heart failure ( decreased blood flow through the defect)
- With mild to moderate stenosis the patient could be asymptomatic until
later on life when the stenosis becomes severe (rarely)
o Often discovered with murmur on routine physical examination
o Once severe- older children present with angina, fatigue, exercise
intolerance, syncope dizziness, and even sudden death
- With increasing severity- decreased pulses, increased heart size, left
ventricular apical thrust.

Physical Examination:
 Pediatric Cardiology [Year]

Early systolic election click at the apex of left sternal border ( doesnt vary with
respiration)
o If severe- no click and decreased S1 (decreased left ventricular
compliance), decreased S2 (aortic component) ; narrow pulse pressure
and may be an S4
Systolic ejection murmur at the upper right sternal border (2nd ICS) that radiates
to the neck and left mediastinal sternal border + thrill in the suprasternal notch
The louder (harsher) and longer the murmur, the greater the degree of the
obstruction.
Diagnosis:
1. Echo is the gold standard.
2. CXR:
Prominent ascending aorta (post-stenotic dilatation)
May have valve calcification in older children and adults.
If severe- cardiomegaly (LVH)
3. ECG:
Normal or LVH ( in moderate to severe)
Treatment:
1. Initial management for aortic stenosis without insufficiency is balloon valvuloplasty
2. Surgery on valves; for aortic stenosis with insufficiency and 5-10 years after palliative
valvuloplasty because of recurrent stenosis or progressive insufficiency.
After this is done, there would be some degree of aortic insufficiency and or
calcification with re-stenosis years later requiring valve replacement.
3. Valve replacement with either the pts own pulmonary valve (Ross procedure) or with
a prosthetic valve.
 Pediatric Cardiology [Year]

Cyanotic Congenital Heart disease:

General Concepts:
Cyanosis could be:
1. Peripheral due to vasomotor instability cold- temperature induced vasoconstriction.
2. Central seen in the tongue and inner mucous membranes and could be the result of:
o Cardiac problems: F Ts and a Pthe most common cyanotic heart
diseases are
Tetralogy of Fallot TOF
Transposition of the great arteries. TGA
Tricuspid atresia
Truncus arteriosus
Total anomalous pulmonary venous return TAPVR
Pulmonary stenosis with ASD or VSD
o Noncardiac causes;
Pulmonary disease
Sepsis
Hypoglycemia
Polycythemia
Neuromuscular diseases that impair the chest wall movement
Evaluation:
1. Physical examination
2. Echocardiogram for definitive diagnosis
3. The 100% oxygen challenge test; failure of the PaO2 to rise despite administration
of 100% oxygen suggests cyanotic CHD.
4. Other studies include:
Pulse oximetry in room air
Arterial blood gas ABG
Complete blood count CBC
ECG
CXR; can show the degree of pulmonary blood flow
Cyanotic CHD and pulmonary blood flow on CXR
Increased pulmonary blood flow Decreased pulmonary blood flow
Transposition of the great arteries. TGA Tricuspid atresia
Truncus arteriosus Tetralogy of Fallot TOF
Total anomalous pulmonary venous return Pulmonary atresia

Cyanotic lesions associated with decreased pulmonary blood flow

Tetralogy of Fallot TOF
The most common cause of central cyanosis presenting beyond the newborn period
4 components:
1. VSD
 Pediatric Cardiology [Year]

2. Overriding aorta; aorta overrides the VSD

3. Pulmonary stenosis and infundibular stenosis; right ventricular outflow obstruction
Note that the it is not the valve thats stenotic rather the area underneath the valve, the
infundibulum, that is stenotic or hypertrophic
4. Right ventricular hypertrophy
The right ventricle is doing so much work (not against the infundibular stenosis but it is
actually pumping against the SVR)

Pathophysiology:
The pulmonary stenosis and the hypertrophy of subpulmonic muscle cause right ventricular
outflow obstruction which causes the blood to shunt from the right ventricle to the left
ventricle across the VSD (blood always takes the path of least resistance remember!) into the
overriding aorta. This not only results in arterial desaturation but also a decrease in pulmonary
blood flow (due to the shunt; blood is not going to the lungs for oxygenation) and therefore
cyanosis.

Clinical features: depends on the severity of RVOT obstruction

Pt with mild obstruction arent visibly cyanotic; pink TOF
There could be adequate blood flow to the lungs with good oxygenation
Bur with growth and further hypertrophy of infundibulum, cyanosis may be seen later in
1st year of life (blue Tet)
Pt with severe obstruction present with cyanosis immediately after birth once PDA
closes ( depends on the ductus for blood flow to the lungs)
If not corrected older children are BLUE, have marked CLUBBING, and have DYSPNEA
ON EXERTION (child learn to squat to increase the systemic vascular resistance and
thereby reducing the R to L shunt)
Paroxysmal hypercyanotic attacks (tet spells /TOF spells):
o Definition: Acute sudden onset of cyanosis and decreased murmur
intensity
o Pathophysiology: Any maneuver that decreases the arterial oxygen
saturation casing the child to cry and become irritable. This further
increases the resistance through the right ventricular outflow tract which
further increases the right to left shunt resulting in a cycle of increasing
cyanosis. = gasping = syncope
Basically, the infundibulum becomes very reactive for any reason and
clamps down causing increased resistance to blood flow to the lungs
(increased infundibular obstruction with more shunting)
Alteration in consciousness and hyperpnoea may occur with severe
hypoxia and acidosis.
o Acute Management of tet spells:
 Pediatric Cardiology [Year]

1. Placement in lateral knee-chest position in infants (children learn to

squat); this increase the venous return to the heart and increases the
SVR reducing the R to L shunt.
2. IV fluid bolus
3. Oxygen
4. Sedation (subcutaneous morphine injection) to decrease agitation (
this will slow the HR)
5. Beta blockers(propranolol) to slow HR and reduce contractility in
RVOT and augment pulmonary blood flow
6. IV sodium bicarbonate to correct for acidosis from prolonged hypoxia
7. Rarely need general anesthesia and surgery

Physical examination findings:

- Increased Substernal right ventricular impulse from RVH
- Loud harsh systolic ejection murmur at the upper left sternal border, may be
preceded by election click (pulmonary stenosis murmur)
- Systolic thrill along the 3rd to 4th ICS on left sternal border
- Single S2 or soft pulmonic component
Diagnosis:
1. Echo is the gold standard
2. CXR:
Boat shaped heart; hypertrophied RV causes the apex to be uplifted/ upturned
above the diaphragm
Dark lung fields; Decreased pulmonary vascular markings
3. ECG:
RVH
RAD
Treatment:
Depends on the degree of the obstruction
1. PGE1 infusion- if cyanotic at birth prevent ductal closure
2. Palliative procedure to increase systemic saturation and encourage pulmonary growth
for infants with poor anatomy ( small pulmonary arteries) or with recurrent TOF
spells
achieved by :
o balloon pulmonary valvuloplasty or
o Modified Blalock- Taussing shunt: palliative systemic to pulmonary shunt
that augment pulmonary blood flow. Gore-Tax graft interposed between
the subclavian and ipsilateral pulmonary artery.
3. Corrective surgery is the definitive management ( at 4-8/12 months of age)
Remove the obstructive muscle
Valvulotomy
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Patching of VSD
Pre- correction complications:
1. Cerebral thromboses; these patients are hypoxic and therefore have high Hb/Hct = very
thick blood with risk of clotting/ abscess formation
2. Brain abscess
3. Bacterial endocarditis
4. CHF; not common due to early correction

Additional notes:

o Actions that increase SVR or reduce resistance through RVOT REDUCE the R to L shunt across the
VSD increasing systemic arterial saturation
- Volume infusion
- Systemic HTN
- Vaslsalva maneuver
- Bradycardia
o Actions that decrease SVR (exercise, vasodilation, volume depletion) or increase the resistance
through the RVOT (crying, tachycardia) INCREASE the R to L shunt resulting in cyanosis.

Tricuspid atresia:
Definition: a plate of tissue located at the floor of the right atrium in the location of the
tricuspid valve. An ASD or PFO is ALWAYS present.
Pathophysiology:
There is no outlet from the right atrium to the right ventricle so the entire venous return
enters the left atrium via foramen ovale or ASD (THERE MUST BE AN ATRIAL
COMMUNICATION). Then the left ventricular blood enters the right ventricle via VSD and into
the pulmonary artery (most have VSD); a left to right shunt. This could provide acceptable
systemic oxygen saturation.
Therefore pulmonary blood flow depends on the presence and size of VSD. Presence
o/absence of VSD determines the direction of blood flow and the presence of other anatomic
features and the degree of cyanosis:
- Absence of VSD results in pulmonary atresia. Now for blood to flow to the lungs, a
PDA must be present. So as the PDA constricts after birth, visible cyanosis develops.

Clinical features and physical examination:

- Severe cyanosis at birth
- Increased left ventricular impulse; the left ventricle is doing most of the work
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- With VSD =holosystolic murmur at lower left sternal border (though the RV is small
atretic
- Without VSD = no murmur and single S2 (pulmonary atresia just like in TOF)
Diagnosis:
1. Echo is the gold standard
2. CXR: decreased pulmonary vascular markings
3. ECG: LVH and LAD /RAE
Hint:
The combination of (1) severe cyanosis at birth (2) CXR showing decreased pulmonary
vascular markings and (3) ECG showing LAD and LVH is MOST LIKELY to be tricuspid
atresia.
Tricuspid atresia is the only cause of cyanosis in the newborn period that results in LAD
and LVH.
Treatment:
1. PGE1 until aortopulmonary shunt is performed to keep the ductus open and allow for
communication so that the blood can go to the lungs.
2. May need an atrial balloon septostomy to make larger ASD
3. Later, staged surgical correction with eventual Fontan procedure at 3-6 years of age; the
aims of which are to direct systemic venous return to the pulmonary artery.
Bidirectional Glenn shunt is usually placed first. Here the SVC is anastomosed to
the RIGHT pulmonary artery. You do this before the Fontan procedure.
Then Fontan procedure is perfumed. Here the flow from the IVC is directed into
the pulmonary arteries by means of extra-cardiac conduit or intra-atrial baffle or
tunnel.

Ebstein anomaly:
Associated with periconceptional maternal lithium use in some cases.
Definition and pathophysiology:
Downward displacement of abnormal tricuspid valve into the right ventricle dividing it
into two parts; an atrilazed thin-walled portion and smaller normal ventricular
myocardium. This results in tricuspid valve regurgitation, huge right atrium and small
poorly functioning right ventricle with reduced right ventricular output.
There is variable RVIT obstruction- abnmromal anterior tricuspid valve leaflet.
Therefore, increased right atrial volume shunts blood through FO or ASD resulting in
cyanosis. Similar to TV atresia
 Pediatric Cardiology [Year]

Clinical presentation:
- Severity and presentation depend on the degree of displacemtn of valve and degree
of RVOT obstruction.
- May not present until adolescence or adulthood
- If severe in newborn; marked cyanosis and huge heart
- Holosystolic murmur of tricuspid insufficiency over most of the anterior left chest is
the most characteristic finding.
Diagnosis:
1. CXR:
Decreased pulmonary vascular markings
Normal to massive heart size ( increased right atrium)
2. ECG: tall and board P waves, right BBB
They may also have Wolff-Parkinson White syndrome (delta waves and short PR
interval) and present with episodes of supraventricular tachycardia.
Treatment :
- PGE1
- Systemic to pulmonary shunt
- Then staged surgery
 Pediatric Cardiology [Year]

Cyanotic lesions associated with increased pulmonary blood flow

Transposition of the great arteries:
Definition and pathophysiology:
The aorta arises from the RV and delivers deoxygenated blood to the body and the main
pulmonary artery arises from the LV and pumping oxygenated blood to and from the lungs.
This results in systemic and pulmonary circulations being parallel rather than series. DS-TGA;
dextroposition of the aorta anterior and to the right of the pulmonary artery; normally it is
posterior.
Adequate saturation can only be achieved by shunting blood from one circulation to the
other through a patent foramen ovale PFO, ASD, VSD or PDA.
Clinical features and physical examination findings
- With intact septum (simple TGA)- severe central cyanosis and tachypnea ensue as
PDA starts to close
TGA is the most common cyanotic lesion presenting in the immediate
newborn period; in the 1st 24 hours of life
More common in infants of diabetic mothers
Murmurs absent
Single loud S2; because the aortic valve is anterior and the pulmonary valve
is posterior in TGA, the closure of the PV is difficult to hear
Quite precordium

- If VSD is present (50%), there is a harsh holosystolic murmur at the lower left sternal
border. Mixing of blood lessens the cyanosis but presents as CHF.

Diagnosis:
1. Echo is the gold standard
2. CXR:
Increased pulmonary vascular markings
Egg-on-a-string appearance; small heart base (globular heartegg) with narrow
straight mediastinum string ( change in the relationship of blood vessels that
come out of the heart) and absence of the main segment of pulmonary artery
Mild cardiomegaly
3. ECG: normal neonatal right-sides dominance
Treatment:
1. Initial management with PGE1 infusion to keep the ductus open and improve oxygen
saturation
2. Emergent balloon atrial septostomy (Rashkind procedure); life-saving procedure that
increases the size of ASD or PFO.
3. Arterial switch surgery in first 2 weeks is the definitive repair; the great arteries are
incised above their respective valves and implanted in the opposite root. The coronary
 Pediatric Cardiology [Year]

arteries are attached to the ORIGINAL aorta so the coronaries must also be incised and
reimplanted.

Mixed Lesions
Truncus arteriosus:
Definition and pathophysiology:
- The aorta and the pulmonary artery originate from a common artery, the truncus
with a single truncal valve that could be regurgitant or stenotic that supplies all
circulations (systemic, pulmonary, and coronary). The truncus overlies VSD (always
present) and receive blood from both ventricles (total mixing). Both ventrciles are at
systemic pressure.
Clinical presentation and physical examination findings:
- The increase in pulmonary blood flow results in CHF ( there is excessive blood flow
to the lungs) but there is minimal cyanosis (only mildly desaturated; total mixing)
- Initially, systolic ejection murmur with thrill along the left sternal border from
increased flow across the truncal valve.
- Single S2; one AV valve only
- Wide pulse pressure with bounding pulses and hyperdynamic precordium as the
blood run off from truncus to pulmonary circulation.
- Mid-diastolic rumble heard at the apex; excessive pulmonary blood flow that
returns to the left atrium increasing flow across the mitral valve
- With truncal valve insufficiency, there could be a high-pitched early diastolic
decrescendo at mid-left sternal border.
Diagnosis:
1. Echo is the gold standard
2. CXR:
Enlarged heart
Increased pulmonary vascular markings
3. ECG: biventricular hypertrophy
Treatment:
1. CHF treatment
2. Surgical repair in first few weeks of life:
VSD closure
Homograft placement between the right ventricle and pulmonary artery.
If left untreated, Eisenmenger develops.

Truncal arteriosus is one of the major conotruncal lesions associated with CATCH-
22 syndrome i.e., DiGeorge syndrome. Also seen are TGA and aortic arch
abnormalities. Very common in DiGeorge syndrome.
 Pediatric Cardiology [Year]

Total anomalous pulmonary venous return TAPVR

Definition and pathophysiology:
The pulmonary veins drain into systemic veins instead of draining into the left atrium. The
systemic and pulmonary venous blood enters the right atrium and mix. There has to be a
way in which the left atrium can receive blood to pump it to the systemic circulation; TAPVR
ALWAYS has an trail connection (since it is not receiving any pulmonary veins); right atrial
blood can enter the left atrium via PFO or ASD. However this blood is desaturated; it is a
mixed blood. This causes cyanosis. This blood mixture is present in all heart chambers.
Classification based on locations:
1. Supracrdiac: into the right SVC
2. Cardiac: into the right atrium or coronary sinus
3. Infracradiac: into the portal system

Clinical manifestations depend on the presence or absence of pulmonary vein

obstruction
- With obstruction (usually infracrdiac)
Severe pulmonary venous congestion and pulmonary HTN, decreased CO
and CHF and shock, cyanosis and tachypnea
Requires emergent diagnosis and surgery as they dont respond to
ventilation and PGE1
- Without obstruction, there is a total mixing with L-to-R shunt = mild cyanosis, less
likely to be severely symptomatic early
- Pulmonary ejection flow murmur at mid-left sternal border due to increased
pulmonary blood flow
Diagnosis:
1. Echo; gold standard
2. CXR:
Large supracardiac shadow with an enlarged cardiac shadow forming a
snowman appearance
Increased pulmonary vascular markings
With obstruction; small heart and pulmonary edema
ECG:
RVH
Tall spiked P waves (RAE)
Treatment:
1. PGE1
2. Surgical correction shortly after diagnosis:
The pulmonary veins are anastomosed to the back of the left atrium and PFO or ASD is
closed.
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