ATRIAL SEPTAL

DEFECTS
EMBRYOLOGY
CLASSIFICATION
CLASSIFICATION
Ostium secundum defects (75%- 85% of ASDs) are
located in the region of the fossa ovalis.
Ostium primum defects (10 - 15%) occur in the lower
portion of the atrial septum.
Sinus venosus defects (5 - 10%) are located near the
orifice of the superior vena cava.
Sinus venosus defects of IVC type (1%).
Coronary sinus (1%) septal defect (in which a defect
between the coronary sinus and the left atrium allows a
left-to-right shunt to occur through an unroofed
coronary sinus).
Secundum ASD
Make up ~70% of all ASDs.
Occur twice as often in females.
Typically located within the area bordered by the
limbus of the fossa ovalis.
Defects vary in size, from <3 mm to >20 mm.
Secundum ASD
May be associated with other ASDs.
Ten to twenty percent have a functional mitral valve
prolapse
Excessive cell death and resorption of the septum
primum or
Inadequate development of the septum secundum.
Primum ASD
Make up ~15% of all ASDs.
Occur if the septum primum does not fuse with the
endocardial cushions, leaving a defect at the base of the
interatrial septum that is usually large.
Usually not isolated primum ASDs are typically associated
with anomalies of the AV valves (such as cleft mitral valve)
and defects of the ventricular septum (VSDs) or a common AV
canal.
Sinus venosus ASD
Make up ~10% of ASDs.
Characterized by malposition of the insertion of the
SVC or IVC straddling the atrial septum.
Often associated with anomalous pulmonary venous
return the RUL/RML pulmonary veins may connect
with the junction of the SVC and RA in the setting of a
superior sinus venosus ASD.
Coronary Sinus Septal Defects
Less than 1% of ASDs
Defects in the inferior/anterior atrial septum region that
includes the coronary sinus orifice.
Defect of at least a portion of the common wall
separating the coronary sinus and the left atrium AKA
unroofed coronary sinus
Can be associated with a persistent left SVC draining
into the coronary sinus.
 Defect is at the site of CS ostium,anterior
and inferior to the fossa ovalis

The left horn of sinus venosus forms the CS. The CS defect (unroofed
CS) results from failure of the wall between the left atrium and CS to
develop. There may be complete or partial unroofing of the CS
resulting in direct communication with the left atrium. Almost always
this anomaly is associated with left SVC.
OSTIUM PRIMUM DEFECT CAUSED BY INCOMPLETE
FUSION OF ATRIOVENTRICULAR ENDOCARDIAL CUSHIONS
Sinus venosus defects occur outside the margins of the fossa ovalis, in relation to
the venous connections of the right atrium. They are located posterior and
superior to the fossa ovalis . Most often, the defect is rimmed by atrial septal
tissue only anteroinferiorly. Its posterior aspect is the right atrial free wall, and its
superior border is often absent because of an overriding superior vena cava.
Infrequently, the defect may be directly posterior to the fossa ovalis or may be
posteroinferior such that the inferior vena cava may join both atria
BASED ON SIZE
SMALL: > 3mm - < 6 mm
MODERATE: 6 - < 12mm
LARGE: 12mm
McMohan et al 2002

SMALL: 4 - 5MM
MEDIUM: 6 8MM
LARGE: > 8MM

Anita Saxena 2005

INCIDENCE
 ASD constitutes 8-10% of congenital heart
defects in children.
Incidence = 56 per 100,000 live births
Recent estimates are much higher (100 per
100,000 live births), likely due to increased
recognition in the era of common use of
echocardiography
female:male ratio for secundum ASD = 2:1
For sinus venosus ASD= 1:1
GENETICS
The genetic basis of ASD is not
completely understood.
In the majority of cases this is a sporadic
lesion,yet some homeobox gene defects
have been found to explain some of the
well known familial cases of ASDs, such
as NKX2-chromosome-5, which has an
autosomal dominant inheritence and AV
conduction defect.
GENETICS
Other genetic syndromes with skeletal
abnormalities HOLT-ORAM
Syndrome,which is due to mutations in
the transcription factor TBX5, essential
in development of both the heart and
upper limbs.
ASD can be part of many other
syndromes like DOWN syndrome and
Nooonan syndrome
NATURAL
HISTORY
 NATURAL HISTORY

< 1 Year Spontaneous closure

Death uncommon < 0.1%
10 - 20 Years Usually asymptomatic
- 13% have Pulmonary Hypertension
- 9% have Eisenmengers
30 Years 80 - 86 % asymptomatic
4% may have Rheumatic disease of Mitral valve
> 40 Years Pulmonary Hypertension 6 14%
Arrhythmias
Eisenmengers
CCF
Natural History of ASDs
Most ASDs <8mm close spontaneously in infants.
Spontaneous closure is unusual in children and adults;
defects often become progressively larger.
Most patients with a significant shunt flow ratio (Qp:Qs >
2:1) will be symptomatic and require closure by age 40.
Increasing size of the ASD may preclude percutaneous
closure.
Weight is more affected then height
Association
Holt oram syndrome
Pataus syndrome
Edwards syndrome
Natural History of ASDs
Life expectancy is not normal, though many
patients live to advanced age.
Natural survival beyond age 40-50 is <50%.
The attrition rate after age 40 is ~6% per year.
Advanced pulmonary hypertension seldom
occurs before the third decade.
Atrial fibrillation is a late complication; stroke is
a potential complication of ASD (ongoing
investigation into this issue).
Pathophysiology of Clinical
manifestations of ASD
COMPLIANCE
The property of a material of undergoing
elastic deformation or change in volume
when subjected to an applied force.
It is equal to the reciprocal of stiffness.
 The right ventricular wall is normally thinner
compared to the left ventricle.
The pulmonary arterial resistance is
significantly lower than the systemic vascular
resistance
 right ventricle is more compliant than the left
ventricle
right side offers less resistance to flow than
the left side
right ventricle will therefore receive the usual
normal systemic venous return as well as this
extra volume of blood received through the
atrial septal defect
 volume overload state of the right ventricle.
The large right ventricular stroke volume and
the increased pulmonary flow is maintained for
a long period of time (years)
The increased size of the dilated right ventricle
will cause increased right ventricular wall
tension by Laplace relationship(T = P x R)
 The increased wall tension
being a stimulus for
hypertrophy will result in right
ventricular hypertrophy
increased tension in the
moderator band through
which the right bundle
normally reaches the free wall
of the right ventricle.
This may contribute to the
right bundle branch block
.......
The long standing shunt + secondary
right ventricular hypertrophy =
decreased right ventricular compliance
= rise in the right ventricular filling
pressures and the right atrial pressures.
 The large pulmonary flow increased
pulmonary venous inflow into the left atrium
left atrial enlargement

With increasing age the left ventricular

compliance decreases more preferential flow
to the right side increased magnitude of the
left-to-right shunt
 The dilated atria would lead to the
development of atrial arrhythmias.

right ventricular dilatation automatically

stretches the tricuspid valve ring, tricuspid
regurgitation usually ensues. This gets
aggravated by the onset of atrial fibrillation
 The rise in pulmonary vascular resistance, heart
failure are late manifestations of ASD (4th
decade)
The increased resistance in the pulmonary
vascular bed together with increased right
ventricular and right atrial filling pressures could
then reverse the shunt (Eisenmengers syndrome)
The increased venous return on inspiration is accompanied by
decreased left-to-right shunt flow. The opposite occurs with expiration,
thereby keeping the pulmonary flow from varying very little with respiration.
This allows the A2 and P2 separation to remain constant and
unchanging with respiration
History & Clinical
findings
 F :M 2:1 Ostium secundum defect, Sinus venosus
(1:1)
Ostium secundum Familial
AD HOLT ORAM
Mutations in the NKX2.5gene have been associated
with familial atrial septal defect and progressive
prolongation of atrioventricular conduction
AxenfeldReiger Anomaly Familial
Patau, Edwards
 Dyspnea and fatigue are early symptoms of an ostium
secundum atrial septal defect.
The large left-to-right shunt is responsible for a
decrease in pulmonary compliance and an increase in
the work of breathing
Orthopnea dec lung compliance Inc work of
breathing in supine
Platypnea(dyspnea induced by the upright position and
relieved by recumbency) and orthodeoxia(arterial
desaturation in the upright position with improvement
during recumbency)
 Recurrent lower respiratory infections
are common, especially in children
The conditions of older patients
deteriorate chiefly on three counts.
1) decrease in left ventricular compliance
2) Atrial arrhythmias
3) pulmonary hypertension
 Weight more affected than height

A left precordial bulge with Harrisons grooves

Cyanosis in ASD
ECG Findings
Right atrial enlargement d/t vol overload (tall P wave)
The P wave axis with an ostium secundum atrial septal
defect is inferior and to the left with upright P waves in leads
2, 3, and aVF
RVH RAD, rSR in V1, R>S in V1.
Atrial tachyarrhythmias a.fib, atrial flutter
AV delay often with primum ASD in association with LAFB and
RBBB (the rim of an ostium primum defect is near the His bundle).
Chest X-Ray Findings
Dilation of RA and RV
Enlarged main pulmonary
arteries and pulmonary
vessels, without redistribution
to apical vessels.
Left atrial enlargement if
associated mitral
regurgitation.
Ascending aorta is seldom
border forming because the
intracardiac shunt does not
traverse the aortic root
Management issues
Management questions arise once an ASD
is found.

Whether to close it?? Or just observe?

What is the appropriate timing??
What are the options for closure??
ACC AHA Recommendations for Interventional
and Surgical Therapy- CLASS 1

1. Closure of an ASD either percutaneously or

surgically is indicated for right atrial and RV
enlargement with or without symptoms. (Level
of Evidence: B)
2. A sinus venosus, coronary sinus, or primum
ASD should be repaired surgically rather than
by percutaneous closure. (Level of Evidence: B)
3. Surgeons with training and expertise in CHD
should perform operations for various ASD
closures. (Level of Evidence: C)
Class 2A
recommendations
1. Surgical closure of secundum ASD is
reasonable when concomitant surgical
repair/replacement of a tricuspid valve is
considered or when the anatomy of the defect
precludes the use of a percutaneous device.
(Level of Evidence: C)
2. Closure of an ASD, either percutaneously
or surgically, is reasonable in the presence of:
a. Paradoxical embolism. (Level of Evidence: C)
b. Documented orthodeoxia-platypnea. (Level of
Evidence: B)
Class 2B
recommendations
Closure of an ASD, either percutaneously or
surgically, may be considered in the presence of
net left-to-right shunting, Qp/Qs>1.5
pulmonary artery pressure less than two thirds
systemic levels,
PVR less than two thirds systemic vascular
resistance,
or when responsive to either pulmonary
vasodilator therapy or test occlusion of the
defect. (Level of Evidence: C)
Class 3 recommendation
Patients with severe irreversible PAH
and no evidence of a left-to-right shunt
should not undergo ASD closure. (Level
of Evidence: B)
 IDEAL AGE FOR
CLOSURE
In asymptomatic child: 2-4 years (Class I).
For sinus venosus defect surgery may be delayed to
4-5 years (Class IIa).
Symptomatic ASD in infancy (congestive heart failure,
severe pulmonary artery hypertension): seen in about
8%-10% of cases. Rule out associated lesions (e.g.,
total anomalous pulmonary venous drainage, left
ventricular inflow obstruction, aorto-pulmonary
window). Early closure is recommended (Class I).
If presenting beyond ideal age: Elective closure
irrespective of age as long as there is right heart
volume overload and pulmonary vascular resistance
is in operable range (Class I).
 CXR

Enlarged
right atrium
Enlarged along with
pulmonary dilatation of
arteries and right ventricle
increased
vascular
markings
ECG

Also note that the aVF is

Enlarged p predominantly upwards rSR seen and tall R wave
wave as compared to Lead I Indicating RBBB and RVH
indicating indicating Right Axis
Right atrial Deviation
hypertrophy
LAD with rSR in V1 is suggestive of
Ostium primum defect
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