ASD

ESSENTIALS OF DIAGNOSIS
A widely split S2 without respiratory variation (fixed split) and a midsystolic murmur are
characteristic.
Right ventricular conduction delay (incomplete right bundle branch block) with vertical
QRS axis (ostium secundum ASD) and superior axis (ostium primum ASD) on ECG.
Prominent pulmonary arteries and right ventricular enlargement (decreased retrosternal air
space) on chest radiograph. Increased pulmonary vascular markings.
Right ventricular dilatation, increased pulmonary artery flow velocity, and left-to-right atrial
shunt by contrast and Doppler echocardiography.
Oxygen step-up within the right atrium; right-sided catheter can pass into the left atrium
across the defect.

Atrial septal defects make up 10% of congenital heart disease cases in newborns and are
regularly encountered as new diagnoses in adults. The defects vary in size from the smallest
fenestrated ASD (a few millimeters) to the largest defect the complete absence of the atrial
septum, or common atrium. The most common interatrial communication is a patent foramen
ovale that is anatomically and physiologically not classified as an ASD.
Classification of ASDs is according to location (Figure 286): ostium secundum in the region
of the fossa ovalis, ostium primum in the lower portion of the atrial septum (actually part of
an atrioventricular [AV] canal defect, discussed below), sinus venosus in the upper part of the
septum near the entrance of the superior vena cava or at the entrance of the inferior vena
cava, and unroofed coronary sinus (communication between the coronary sinus and left
atrium). Important associated abnormalities include anomalous drainage of the right upper
pulmonary vein into the superior vena cava associated with a superior sinus venosus ASD, a
persistent left superior vena cava draining to the coronary sinus with secundum or primum
ASDs, and a cleft anterior mitral leaflet and mitral regurgitation associated with an ostium
primum ASD. Ostium primum ASD is a common cardiac anomaly in trisomy 21 (Down
syndrome) and is part of the spectrum of AV septal canal defects (discussed later). There is
an approximately 2:1 female predominance for ostium secundum ASDs, while the sex rasio
for ostium primum and sinus venosus ASDs is approximately 1:1. An autosomal-dominant
inheritance pattern has been demonstrated in some patients with ostium secundum ASD with
associated first-degree AV block and cases of ASD in monozygotic twins have been reported.
Recent studies have implicated mutations in the genes gata4, and nkx2-5 in non-syndromic
ASDs, while point mutations in the gene tbx5 are known to cause the Holt-Oram syndrome
(ASD and limb defects).
The pathophysiologic consequences of an ASD depend on the quantity of blood shunted from
the systemic to pulmonary circulation. The size of the shunt is in turn dependent on the size
of the defect and the relative compliance of the RV and LV. Little or no shunting occurs
immediately after birth because of the high pulmonary vascular resistance (PVR), but as
resistance falls, the more compliant RV receives the shunted blood mainly in diastole, when

all four chambers are in communication. In the compensated patient with ASD, pulmonary
resistance is usually low. The older adult with the LV diastolic abnormalities of hypertension,
coronary artery disease, and aging may experience increased left-to-right shunting and,
consequently, right heart failure. While pulmonary resistance may increase, the development
of Eisenmenger physiology is unusual after the age of 25. Atrial arrhythmias, especially atrial
fibrillation, are common over the age of 50.

A. Symptoms and Signs

The young adult with an uncorrected ASD and normal pulmonary artery pressures is usually
asymptomatic, with normal or minimally diminished exercise tolerance. After the age of 30,
however, exertional dyspnea and atypical chest pain increase in frequency. As mentioned
earlier, the frequency of atrial arrhythmias increases with age and occurs in a high percentage
of patients over the age of 50 who have not been treated surgically. Signs and symptoms of
RV failure may occur because of pulmonary hypertension or as a result of long-standing
volume overload. Important findings of the physical examination in an uncomplicated ASD
include a prominent RV impulse along the lower-left sternal border; a palpable pulmonary
artery; a systolic ejection murmur, caused by increased flow across the pulmonic valve,
which does not vary in intensity with respiration; and the almost pathognomonic fixed split
second heart sound. When the Qp:Qs exceeds 1.5, there may be an associated right-sided
diastolic flow rumble and S3 Gallop from increased flow across the tricuspid valve. The
patient with ostium primum ASD usually has a holosystolic murmur of mitral regurgitation. If
pulmonary hypertension is present, P2 is increased and a high-pitched murmur of pulmonary
regurgitation (Graham Steell murmur) may be audible. Signs of RV failure with elevated

jugular venous pressure and venous congestion may be apparent in the later stages of this
disease.
B. Diagnostic Studies
1. Electrocardiography and chest radiographyThe ECG shows an RV conduction delay
(incomplete right bundle branch block, IRBBB) in 90% of cases (Figure 287). In ostium
secundum and sinus venosus ASDs, the QRS axis is vertical or rightward. In the patient with
ostium primum ASD, the axis is superior and leftward. Abnormal sinus node function in
patients with sinus venosus ASD often results in an ectopic atrial rhythm with a superior Pwave axis. The chest radiograph shows prominent main and branch pulmonary arteries with a
small aortic knob and RV enlargement. The right atrium may appear enlarged. In the absence
of pulmonary hypertension, the lung markings are increased as a result of increased
pulmonary blood flow.
2. EchocardiographyThe findings on TTE include right heart enlargement and increased
pulmonary artery flow. Color-flow Doppler often can identify the interatrial flow, especially
in the subcostal four-chamber view. An intravenous saline contrast injection should be used in
all patients with these findings to exclude an unsuspected ASD. In the presence of an ASD, a
negative contrast effect can be seen in the right atrium as the unopacified left atrial blood is
shunted from left to right. A small degree of bidirectional shunting nearly always is present
and microbubbles can be seen in the left atrium as a result of right-to-left shunting. The
shunting across a patent foramen ovale is purely right to left and occurs only during transient
(eg, Valsalva maneuver, coughing) or persistent elevations in right atrial pressure. Pulmonary
artery pressure can be estimated from the peak velocity of the tricuspid regurgitant jet.
Echocardiographic measurements may be used to determine shunt flow, eliminating the need
for an invasive assessment. In adults, however, the TTE is somewhat limited in quantifying
the magnitude of shunts and the size of the defect and in locating sinus venosus defects or
anomalous pulmonary veins. As noted earlier, TEE has been found to be more accurate in
determining the size and location of atrial communications
3. Cardiac catheterizationIn some younger individuals with unequivocally large defects
on noninvasive imaging, cardiac catheterization may be avoidable. In others, however,
invasive studies may be necessary to accurately quantitate the shunt, measure PVR, and
exclude coronary artery disease. Right-heart catheterization with repeated blood sampling for
oxygen saturation demonstrates an oxygen step-up (ie, an increase in saturation) from the
vena cava to the right atrium. In general, the higher the pulmonary arterial oxygen saturation,
the greater the shunt, with a value greater than 90% suggesting a large shunt. The ratio of
pulmonary to systemic flow can be calculated by the following formula:

Where SAO2, MVO2, PVO2, and PAO2 are systemic arterial, mixed venous, pulmonary
venous, and pulmonary arterial blood oxygen saturations, respectively. Mixed venous O2 is
calculated using the Flamm equation, [(3 SVC) + IVC]/4, where SVC is the oxygen
saturation of blood from the superior vena cava and IVC is the oxygen saturation of blood
from the inferior vena cava. A PVR that is more than 70% of the systemic vascular resistance
suggests significant pulmonary vascular disease, and closure is best avoided. Pulmonary

vasodilator therapy may be used and occasionally pulmonary resistance decreases enough to
consider closure.
Prognosis & Treatment
Although patients with an uncorrected ostium secundum ASD generally survive into
adulthood, their life expectancy is not normal; older natural history studies showed a 50%
survival beyond age 40. The mortality rate after the age of 40 is about 6% per year. Small
ASDs (a Qp:Qs < 1.52:1) may cause problems only in the advanced years, when
hypertension and coronary artery disease cause reduced LV compliance, resulting in
increased left-to-right shunting, atrial arrhythmias, and potential biventricular failure. In
addition, intrinsic abnormalities in LV diastolic function may develop in patients with ASDs
unrelated to acquired heart disease. Severe pulmonary hypertension develops during young
adulthood in only 510% of patients with large shunts (Qp:Qs > 2:1). Although most adults
with ASDs have mild to- moderate pulmonary hypertension, the late development of severe
pulmonary hypertension in older adults appears to be quite rare. Pregnancy, in the absence of
pulmonary hypertension, is usually uncomplicated. Another potential complication of ASD
(including even the smallest patent foramen ovale) in the adult patient is paradoxical
embolization. Endocarditis is rare in patients with ASD, and prophylaxis is not routinely
recommended unless associated lesions with higher risk exist. The natural history of sinus
venosus ASDs is similar to that of ostium secundum defects, although many of these patients
have associated partial anomalous pulmonary venous drainage. Adults with an ostium
primum ASD are less commonly encountered and may have additional complications
resulting from mitral regurgitation caused by the cleft leaflet (see the discussion on AV canal
defects, later in this chapter). Ostium secundum ASDs have been surgically repaired for more
than 40 years. No late cardiac deaths occurred in those who had early surgical repair of ASDs
(before the age of 18) among patients in a large registry. Patients with elevated pulmonary
systolic pressure (> 40 mm Hg) at the time of surgery have the poorest survival rate,
especially if they are older than 40 at the time of operation. Despite the poorer surgical results
in adults older than 40 years, closure is superior to medical therapy and is recommended in
patients with predominant left-to-right shunts (Qp:Qs > 1.5 to 2:1) and PVR less than 10
units/m2. Although mortality rates increase when the resistance exceeds this level, surgery
can be performed safely in many patients with PVR between 10 and 15 units/m2; pulmonary
vasodilator therapy should be considered in these patients before closure. Surgery will
improve functional class and eliminate the risk of paradoxical embolization, but closure does
not reduce the incidence of atrial arrhythmias. Percutaneous device closure is widely
available, and retrospective studies have suggested comparable results with device closure
and surgical closure. Therefore, device closure has become the standard of care for
appropriately selected adolescents and adults with ostium secundum defects. Adult patients
with initially small shunts (Qp:Qs < 1.5) should undergo continued echocardiographic
surveillance because the shunt may increase over time owing to a progressive decline in LV
compliance. In patients with patent foramen ovale who have suffered embolic phenomena,
device closure has become a standard intervention although evidence from a randomized
controlled trial is lacking. In addition, a correlation has been noted between patent foramen
ovale and migraine. However, further study is required before migraine can be considered an
indication for patent foramen ovale closure.