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Congenital Heart Disease in
Adults
Background

8/1000 Live born births
 32,000 cases/yr
 Liveborn prevalence lower than fetal prevalence
– Fetal echo

20% die within first year
– 80% of first year survivors reach adulthood
– Prevalence 800,000 adults in U.S.

Focus on Adult congenital heart disease
Atrial Septal Defect

One third of adult patients with CHD
 F:M=2:1
 Secundum (75%)
 Primum 15%
 Sinus Venosus 10%
ASD
ASD
ASD
ASD
Associated Abnormalities

MVP
 Cleft Mitral Leaflet MR (Primum)
 Anomalous Pulmonary Venous Return
– Sinus Venosus
ASD Physiology

Increased flow L-R
– High-low pressure

Increased Right sided blood flow
 Dilation of RA, RV and PA
ASD Clinical Presentation

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No symptoms until third or fourth decades of life
despite pulmonary to systemic flow (Qp:Qs) of 1.5
or more
Over the years, the increased volume of blood
usually causes right ventricular dilatation and
failure
Fatigue or dyspnea on exertion
Supraventricular arrhythmias
Paradoxical embolism, or recurrent pulmonary
infections
Death from RV failure or Arrhythmias in 40-50’s if
uncorrected
Physical Exam

Right ventricular or pulmonary arterial
impulse may be palpable.
 Wide and fixed splitting of the second heart
sound
– Increased blood flow in PA

A systolic ejection murmur second left
intercostal space (pulmonic)
– usually so soft that it is mistaken for an
“innocent”flow murmur.

Flow across the atrial septal defect itself does
not produce a murmur.
ASD EKG

Right-axis deviation
 Incomplete right bundle-branch block
– R’ > R in V1

Left-axis deviation occurs with ostium primum
defects
– 1-deg AVB, “notched s wave II”

A junctional or low atrial rhythm (inverted P
waves in the inferior leads) occurs with sinus
venosus defects.
 Normal sinus rhythm for the first three
decades of life, after which atrial arrhythmias
may appear.
Secundum EKG
Primum EKG
ASD CXR
Prominent pulmonary arteries
 Peripheral pulmonary vascular pattern

– Small pulmonary arteries well visualized in
periphery

RAE/RVE when advanced
ASD CXR
ASD Echo

RAE/RVE
 Direct visualization of Primum and
Secundum defects
 Sinus venosus defects require TEE
 Microbubbles to assist with diagnosis
ASD Echo
ASD Primum
ASD Treatment
Qp:Qs 1.5 or more should be closed to
prevent right ventricular dysfunction
 Not recommended if irreversible
pulmonary hypertension
 Prophylaxis against infective
endocarditis not recommended
repaired or unrepaired

– Except for first 6 months after closure
Percutaneous Closure
VSD
VSD

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Most common congenital cardiac abnormality in
infants and children
M:F=1:1
25-40 percent close spontaneously by 2 y.o.
90 percent of those that eventually close do so by
age10
70% are membranous, 20% muscular
5% just below the aortic valve (undermining the
valve annulus and causing regurgitation),
VSD Physiology
Initially left-to-right shunting
predominates
 Over time pulmonary vascular
resistance increases and left-to-right
shunting declines
 Eventually the pulmonary vascular
resistance exceeds the systemic
resistance and right to left shunting
begins

VSD Exam

With left-to-right shunting and no pulmonary
hypertension
– left ventricular impulse is dynamic and laterally
displaced
– murmur is holosystolic, loudest at the lower left
sternal border usually accompanied by a palpable
thrill
– A short mid-diastolic apical rumble (caused by
increased flow through the mitral valve) may be
heard
VSD Exam

Small, muscular VSD may produce high frequency
systolic ejection murmurs that terminate before the
end of systole
– High pressure, small defect
– defect is occluded by contracting heart muscle.

If pulmonary hypertension develops, RV heave
and a pulsation over the pulmonary trunk may be
palpated
– Murmur and thrill eventually disappear as flow through
the defect decreases

Cyanosis and clubbing are late findings
VSD EKG
Small defect-normal
 Large defect- left atrial and ventricular
enlargement
 If pulmonary hypertension occurs

– QRS axis shifts to the right,
– right atrial and ventricular enlargement
VSD CXR

Small defect- normal
 Large defect LAE, LVE, “Shunt
Vascularity”
 Pulmonary hypertension:
– proximal pulmonary arteries enlarged
– rapid taperingof the peripheral pulmonary
arteries, and oligemic lung fields “Pruning”
VSD CXR
VSD Echo
Two-dimensional echocardiography
 Confirm the presence and location
 Color-flow mapping provides
information about the magnitude and
direction of shunting
 Qp:Qs

VSD
VSD Management

Small defects (Qp:Qs < 1.5)
– No need for surgery
– High Risk SBE, Prophylaxis provided

Large defects who survive to adulthood usually
have left ventricular failure or pulmonary
hypertension/ right ventricular failure
– Surgical closure recommended

Once the ratio of pulmonary to systemic vascular
resistance > 0.7 risk of surgery is prohibitive
PDA
PDA

Connects descending aorta (just distal to the
left subclavian artery) to the left pulmonary
artery
 In the fetus, it permits pulmonary arterial
blood to bypass lungs and enter the
descending aorta for oxygenation in the
placenta
 10 percent of cases of congenital heart
disease.
– Perinatal hypoxemia
– Maternal rubella
– Infants born at high altitude or prematurely
PDA Exam

Bounding arterial pulses with widened pulse
pressure
 Hyperdynamic left ventricular impulse
 A continuous “machinery” murmur
– Second left anterior intercostal space
– Peaks immediately after the second heart sound
(thereby obscuring it)
– declines in intensity during diastole.

If pulmonary hypertension develops continuous
murmur decreases in duration eventually
disappears
PDA CXR
Left atrial and ventricular hypertrophy
 Pulmonary plethora, proximal
pulmonary arterial dilatation, RVH
 Prominent ascending aorta
 May be visualized as an opacity at the
confluence of the descending aorta and
the aortic knob

PDA CXR
PDA Imaging
With two-dimensional echocardiography
the ductus arteriosus can usually be
visualized
 Doppler studies demonstrate
continuous flow in the pulmonary trunk
 Quantify the magnitude of shunting

PDA Echo
PDA Management

Small defects
– No need for surgery
– High Risk SBE (0.45 % annually after age 20)
Prophylaxis provided
– Some recommend closure to prevent SBE

Large defects
– Sx during childhood or adulthood: fatigue,
dyspnea, or palpitations
– The ductus arteriosus may become aneurysmal
and calcified, which may lead to its rupture
– Left ventricular failure from Vol overload
– When pulmonary vascular resistance exceeds
systemic vascular resistance, the direction of
shunting reverses (Cyanosis)
PDA Surgery

1/3 of patients not surgically repaired die of heart
failure, pulmonary hypertension, or endarteritis by
age 40 2/3 die by age 60
 Surgical ligation or percutaneous closure
accomplished without cardiopulmonary bypass
 Mortality of less than 0.5 percent
 Once severe pulmonary vascular obstructive
disease develops closure is contraindicated.
Coarctation
Coarctation Physiology

A diaphragm-like ridge extending into aorta just
distal to the left subclavian artery at the
ligamentum arteriosum
 Less commonly immediately proximal to the left
subclavian artery
– difference in arterial pressure is noted between the
arms

Collateral circulation through the internal thoracic,
intercostal, subclavian, and scapular arteries
develops
Coarctation
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M:F = 4-5:1
Associated abnormalities
Gonadal dysgenesis (e.g.,Turner’s
syndrome)
Bicuspid aortic valve (30%)
Ventricular septal defect
Patent ductus arteriosus
Mitral stenosis or regurgitation
Aneurysms of the circle of Willis
Coarctation Presentation

Most adults are asymptomatic
 Diagnosis is made during physical exam
– Systemic arterial hypertension observed in the arms, with
diminished or absent femoral pulses

If symptoms are present, they are usually those of
hypertension: headache, epistaxis, dizziness, and
palpitations.
 Occasionally, diminished blood flow to the legs
causes claudication
 May present with heart failure or aortic dissection
 Women with coarctation are at high risk for aortic
dissection during pregnancy
Coarctation Physical Exam
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Systolic arterial pressure higher in the arms than in
the legs
The femoral arterial pulses are weak and delayed
A systolic thrill in the suprasternal notch
A systolic ejection click (due to a bicuspid aortic
valve)
A harsh systolic ejection murmur along the left
sternal border and in the back, particularly over the
coarctation
A systolic murmur, caused by flow through
collateral vessels, may be heard in the back
Coarctation CXR

Increased collateral flow through the intercostal
arteries causes notching of the posterior third of
the third through eighth ribs
– Usually symmetric.

Notching is not seen in the anterior ribs
– Anterior intercostal arteries are not located in costal
grooves

The coarctation may be visible as an indentation
of the aorta with prestenotic and poststenotic
dilatation of the aorta, producing the “reversed E”
or “3” sign
Coarctation
Coarctation Imaging
The coarctation may be visualized
echocardiographically
 Doppler examination can estimate
transcoarctation pressure gradient.
 Computed tomography, magnetic
resonance imaging, and contrast
aortography

– Location and length of the coarctation
– Visualization of the collateral circulation
– Measurement of Gradient on Cath
Coarct Echo
Coarctation Complications
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Hypertension
Left ventricular failure (2/3 of pts > 40 yo)
Aortic dissection
Premature coronary artery disease
Infective endocarditis
Cerebrovascular accidents (due to the
rupture of an intracerebral aneurysm)
If uncorrected 3/4 die by the age of 50, and
90% by the age of 60
Coarctation Repair

Repair considered for transcoarctation pressure
gradient of more than 30 mm Hg
 Balloon dilatation is a therapeutic alternative
– Higher incidence of subsequent aortic aneurysm and
recurrent coarctation than surgical repair

Postoperative complications include residual or
recurrent hypertension, recurrent coarctation, and
the possible sequelae of a bicuspid aortic valve
Age at Time of Repair

Surgery during childhood:
– 90 percent are normotensive 5 years later,
50 percent are normotensive 20 years later
– 89 percent of patients are alive 15 years
later and 83 percent are alive 25 years
later

Surgery after age 40:
– Half have persistent hypertension
– 15-year survival is only 50 percent
Bicuspid AoV
Aortic Stenosis
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Supravalvular and Infravalvular Stenoses typically present
in childhood
Bicuspid aortic valve 2 to 3 percent adult population.
M:F=4:1
20% have associated cardiovascular abnormality such as
patent ductus arteriosus or aortic coarctation.
Not stenotic at birth, subject to abnormal hemodynamic
stress, leads to thickening and calcification of the leaflets
Abnormality of the medial layer of the aorta above the
Valve predisposes to dilatation of the aortic root
Aortic Stenosis Presentation

The classic symptoms are angina pectoris,
syncope and heart failure
 Adults with aortic stenosis who are
asymptomatic have a normal life expectancy;
they should receive antibiotic prophylaxis
 Once symptoms appear, survival is limited:
the median survival
– five years after angina develops
– three years after syncope occurs
– two years after heart failure appears
Aortic Stenosis Physical Exam
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Carotid upstroke delayed and diminished (parvus
et tardus)
The aortic component of S2 diminished or
inaudible
Fourth heart sound is present
A harsh systolic crescendo–decrescendo murmur
is audible over the aortic area and often radiates
to the neck
As the aortic stenosis worsens, the murmur peaks
progressively later in systole
Aortic Stenosis Work Up

Left ventricular hypertrophy is usually evident on
EKG
 Unless the left ventricle dilates, CXR demonstrates
a normal cardiac silhouette
 TTE with Doppler permits assessment of the
severity of the stenosis and of left ventricular
systolic function.
 Cardiac catheterization is performed to determine
the severity of aortic stenosis and to determine
concomitant coronary artery disease.
Aortic Stenosis Treatment

If mild, only SBE prophylaxis
 If symptomatic, valve replacement
necessary
 Valve replacement prior to development of
LV dysfxn
– Nl LV fxn
– LVH will regress
Pulmonic Stenosis

10 to 12 percent of congenital heart disease in
adults.
 Valvular in 90 percent of patients, remainder
supravalvular or subvalvular
 Supravalvular pulmonary stenosis in pulmonary
trunk or branches
– Often coexists with other congenital cardiac
abnormalities (valvular pulmonary stenosis, ASD, VSD,
PDA, tetralogy of Fallot or Williams syndrome)

Subvalvular pulmonary stenosis caused by
narrowing of the right ventricular infundibulum
usually occurs in ventricular septal defect.
Pulmonary Stenosis
Physiology

Typically is an isolated abnormality, may occur with
VSD
 Valve leaflets usually are thin and pliant; all three
valve cusps are present
 Commissures are fused
– Valve is dome-shaped with a small central orifice
– 10-15 percent have dysplastic thickened leaflets

2/3 of patients with Noonan’s syndrome have
pulmonary stenosis due to valve dysplasia.
Pulmonic Stenosis Definition

Mild if the valve area >1.0 cm, transvalvular
gradient < 50 mm Hg, or peak right ventricular
systolic pressure is <75 mm Hg
 Moderate if the valve area is 0.5 to 1.0 cm, the
transvalvular gradient is 50 to 80 mm Hg, or the
right ventricular systolic pressure is 75 to 100 mm
Hg.
 Severe pulmonary stenosis is characterized by a
valve area of less than 0.5 cm, a transvalvular
gradient of > 80 mm Hg, or a right ventricular
systolic pressure of more than 100 mm Hg
Pulmonic Stenosis
Presentation
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If mild, usually Asx
When the stenosis is severe, dyspnea on exertion
or fatigability may occur
Less often may have chest pain or syncope with
exertion
Eventually, right ventricular failure may develop,
with peripheral edema and abdominal swelling
If the foramen ovale patent, shunting of blood from
the right to the left causing cyanosis and clubbing
Pulmonic Stenosis Physical
Exam

With moderate or severe pulmonary stenosis:
 A right ventricular impulse at the left sternal border
 Thrill at the second left intercostal space
 Harsh crescendo–decrescendo systolic murmur increases
with inspiration at left sternal border
 If the valve is pliable, an ejection click often precedes the
murmur
 As the stenosis becomes more severe, the systolic
murmur peaks later in systole
Pumonic Stenosis CXR
Post-stenotic dilatation of the main
pulmonary artery
 Diminished pulmonary vascular
markings
 The cardiac silhouette is usually normal

– An enlarged cardiac silhouette may be
seen if the patient has right ventricular
failure or tricuspid regurgitation.
Pulmonic Stenosis Echo
Right ventricular hypertrophy and
paradoxical septal motion during
 Site of obstruction can be visualized in
most patients.
 With the use of Doppler flow studies,
the severity of stenosis can usually be
assessed

Pulmonic Stenosis Echo
Pulmonic Stenosis, Treatment

If mild only SBE Prophylaxis
 Survival 94 percent 20 years after diagnosis
 Severe stenosis should be relieved
 Moderate pulmonary stenosis have an excellent
prognosis with either medical or interventional
therapy
– Interventional therapy is usually recommended, since
most patients with moderate pulmonary stenosis
eventually progress
Balloon Valvuloplasty
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The procedure of choice
High success rate provided the valve is
mobile and pliant
Long-term results are excellent
Secondary hypertrophic subpulmonary
stenosis regresses after successful
intervention
Valve replacement is required if the leaflets
are dysplastic or calcified or if marked
regurgitation is present
Tetrology of Fallot

Most common cyanotic heart defect after
infancy
 Overiding aorta
 Obstruction of RVOT
 RVH
 VSD
 Associated with L-PA stenosis (40%), R
sided aortic Arch (25%), ASD (10%),
Coronary Anomalies (10%)
Tetralogy of Fallot
Tetralogy of Fallot

Equal pressure in R and L ventricles
 R-L shunting due to elevated RV pressures
from RVOT obstruction
 Changes in SV resistance affect shunting
– Increased SVR decreases R-L shunting
Tetralogy of Fallot
Presentation

Cyanotic spells beginning in first year of life
– Tachypnea, cyanosis
– Can progress to LOC, Seizures, CVA, Death

Adults
– Dyspnea and limited exercise tolerance
– Complications of chronic cyanosis- erythrocytosis,
hyperviscosity, abnormalities of hemostasis,
cerebral abscesses or stroke, and endocarditis.
Tetralogy of Fallot
Physical Exam

Cyanosis and digital clubbing
– Severity determined by the degree of RVOT obstruction

RV lift is palpable
 A Systolic ejection murmur caused by turbulent flow
across the RVOT (thrill may be may be palpable)
– Intensity and duration inversely proportional to severity of
obstruction- flow shunted across VSD
– a soft, short murmur suggests severe obstruction

Second heart sound is single, since its pulmonary
component is inaudible
 An aortic ejection click (due to a dilated, overriding
aorta) may be heard
Tetralogy of Fallot
EKG- right-axis deviation and right
ventricular hypertrophy.
 CXR- heart size is normal or small

– lung markings are diminished.
– “bootshaped,” heart
– upturned right ventricular apex and
concave main pulmonary arterial segment.
– A right sided aortic arch may be present.
Tetrology of Fallot
CXR
Tetralogy EKG
Tetralogy of Fallot
Echo

Establishes diagnosis
 Determines severity of RVOT obstruction
 Flow across VSD
 Cardiac Cath
– Pressures, gradients, shunting, O2 sat, VSD
– Origins of coronary arteries
 Also seen by MRI or CTA
Tetralogy Echo
Tetralogy of Fallot
Without surgical intervention, most
patients die in childhood
 Survival rate- 66 percent at 1 year of
age, 40 percent at 3 years, 11 percent
at 20 years, 6 percent at 30 years, and
3 percent at 40 years

Tetralogy of Fallot
Surgical correction

Relieves sx and improves survival
 Waterston: a side-to-side anastomosis of the
ascending aorta and the right pulmonary
artery
 Potts: side-to-side anastomosis of the
descending aorta to the left pulmonary artery
 Blalock–Taussig: end-to-side anastomosis of
the subclavian artery to the pulmonary artery.
– Long-term complications- pulmonary
hypertension, left ventricular volume overload, and
distortionof the pulmonary arterial branches.
Blalock-Tausig
Waterston
Tetralogy of Fallot
Surgical correction

Complete surgical correction
– Closure of VSD
– Relief of RVOT obstruction

Mortality 3% in children, 2.5-8% in Adults
 Rate of survival 32 years after surgery
86% with repair vs. 96% in agematched controls
Tetralogy of Fallot
Post Surgical Complications
Ventricular arrhythmias detected with
Holter monitoring in 40 to 50 percent
 Moderate or severe pulmonary
regurgitation
 Systolic and diastolic ventricular
dysfunction
 Atrial fibrillation or flutter are common

Tetralogy of Fallot
Post Surgical Complications

Pulmonary regurgitation may develop as a
consequence of surgical repair of the RVOT
– Can result in RVE and RV dysfunction
– May require repair or replacement of the pulmonary
valve

RVOT aneurysm may occur at site of repair
– Rupture has been reported

Recurrent obstruction of RVOT may occur
 10-20% have residual VSD
 CHB may occur
 AI is common but usually mild
Ebstein’s Anomaly

Downward displacement of septal leaflet of
Tricuspid valve
– Sometime posterior leaflet as well
“Atrialized Ventricle”
 Tricuspid regurg common
 80% have ASD or PFO

– Can result in R-L shunting
Ebstein’s Anomaly
Ebstein’s
Ebstein’s Anomaly
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Severity of defect depends upon degree of valvular
displacement
Presentation ranges from severe HF in neonate to
incidental discovery in adults
Neonates with severe disease have cyanosis, heart failure,
murmur noted in the first days of life
– Worsens after the ductus arteriosus closes
Older children with Ebstein’s anomaly often come to
medical attention because of an incidental murmur
Adolescents and adults present with a supraventricular
arrhythmia.
Ebstein’s Anomaly
Physical Exam

Severity of cyanosis depends on the
magnitude of right-to-left shunting
 Tricuspid regurgitation is usually present at
the left lower sternal border.
 Hepatomegaly from passive hepatic
congestion due to elevated right atrial
pressure may be present.
Ebstein’s Anomaly
EKG

Tall and Broad p-waves
 RBBB
 1st degree AVB
 20% have ventricular pre-excitation
Ebstein’s Anomaly
EKG
Ebstein’s Anomaly
CXR

Normal in mild cases
 Cardiomegally from RAE
 Pulmonary markings decreased in severe
cases
– Marked R-L shunting across ASD
Ebstein’s Anomaly
Treatment

Focuses on preventing and treating
complications
 SBE prophylaxis
 CHF
 Rx of SVT
– RFA for accessory pathway

Fontan procedure in severe cases
Fontan
Ebstein’s Anomaly

Tricuspid Surgery
 Repair or replacement
 Closure of ASD/PFO
 Patient with severe sx despite medical Rx
 Cardiac enlargement
Transposition of the Great
Vessels

Aorta from RV, PA from LV
 Complete separation of pulmonic and
arterial saturation
 Requires communication between the
circuits for survivial
– PDA, VSD, ASD or PFO
D-Transposition of the Great
Vessels
Transposition Echo
Transposition of the Great
Vessels Physical Exam
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Findings are nonspecific.
Infants have cyanosis and tachypnea.
The second heart sound is single and loud
(due to the anterior position of the aorta).
In patients with mild cyanosis, a holosystolic
murmur caused by a ventricular septal defect
may be heard.
A soft systolic ejection murmur (due to
pulmonary stenosis, ejection into the
anteriorly located aorta, or both) may be
audible.
Transposition of the Great
Vessels EKG

RAD
 RVH- RV is systemic ventricle
 LVH- if VSD, PDA, Pulmonic Stenosis
present
Transposition of the Great
Vessels CXR

Increased pulmonary vascularity
 Egg Shaped with a narrow stalk
Transposition CXR
Transposition of the Great
Vessels

Mortality 90% by 6 months if uncorrected
 Infusion of prostaglandin E (to maintain
or restore patency of the ductus
arteriosus),
 Creation of an atrial septal defect by
means of balloon atrial septostomy (the
Rashkind procedure).
 Oxygen- to decrease PVR, increase
pulmonary blood flow
Transposition of the Great
Vessels-Surgery

Atrial Switch- (Mustard)
– Atrial septum excised and baffle created
– Shunts blood to LV

RV continues to function as systemic ventricle
– RV failure, SCD

Leakage of the atrial baffle (often clinically
inconsequential)
 Obstruction of the baffle (often insidious and
frequently asymptomatic)
 Sinus-node dysfunction
 Atrial arrhythmias, particularly atrial flutter
Atrial Switch
Arterial Switch
Transposition of the Great
Vessels-Surgery

The atrial-switch operation has been replaced by
the arterial-switch operation
 Pulmonary artery and ascending aorta are
transected above the semilunar valves
 Coronary arteries switched, so that the aorta is
connected to the neoaortic valve (formerly the
pulmonary valve) arising from the left ventricle, and
the pulmonary artery is connected.
 This operation can be performed in neonates and
is associated with a low operative mortality and an
excellent long-term outcome.
Physiologic Repair

Tetralogy of Fallot (TOF)

Senning's or Mustard's operation for
transposition of the great arteries

Fontan operation for the single ventricle.
Approach to Management
Timetable of Congential Heart
Surgery
Congenital Heart Disease in
Adults Part II
Cyanotic Heart Disease
M.Ferguson CAPT, USN
NNMC


Palliative interventions increase or decrease pulmonary
blood flow while allowing a mixed circulation and
cyanosis to persist
Physiologic repair total or near total anatomic,
physiologic, or both anatomic and physiologic separation
of the pulmonary and systemic circulations.
Palliative Operations
Palliative Operations

Systemic arterial-to-pulmonary artery shunts
– improvement in saturation levels
– high levels of pulmonary blood flow
– direct exposure of the pulmonary vascular bed to the
high pressures of the systemic circulation
– long-term complications include pulmonary
hypertension, pulmonary artery stenosis, and volume
overload of the ventricle receiving pulmonary venous
return.
Cyanotic Conditions

Arterial O2 desaturation due to shutning of
venous blood into arterial circulation (R-L)
 Magnitude of shunting determines severity
of desaturation