Atrial septal defect (ASD) is one of the most common congenital cardiac abnormalities identified in adults. Most ASDs, however, are detected in the pediatric population and corrected at that time.  See the image below.
There are 3 types of ASD:
Ostium primum: Ostium primum ASDs involve atrial and ventricular septa. Primum defects do not always involve the ventricular septum. If both the atrial and ventricular septa are involved, the defect is called an atrioventricular canal or atrioventricular septal defect.
Sinus venosus: The third form of ASD involves defects of the sinus venosus type that are high in the atrial septum near the junction with the superior vena cava (SVC)
Patients with ASD usually are asymptomatic early in life, although occasional reports exist of congestive heart failure (CHF) and recurrent pneumonia in infancy. Common findings include a prominent right ventricular cardiac impulse and palpable pulmonary artery pulsation. The first heart sound is normal or split, with accentuation of the tricuspid valve closure sound. Two-dimensional echocardiography, supplemented by conventional or color-coded Doppler flow and/or contrast echocardiography, has superseded cardiac catheterization as the confirmatory test for ASD.
In contrast to adults, children with the sinus venosus or secundum types of ASD rarely require treatment for CHF, atrial fibrillation, or supraventricular tachycardia. Although the risk of infective subacute bacterial endocarditis is low, antibiotics should be administered prophylactically before dental procedures. Operative repair is recommended for all patients with uncomplicated ASD in whom significant left-to-right shunting exists (ie, in patients with pulmonary flow/systemic flow ratios exceeding approximately 1.5:1). Ideally, the repair should be performed early (ie, by age 2-4 years). Surgical mortality is less than 1%, and results generally are excellent.
The American Society of Echocardiography and Society for Cardiac Angiography and Interventions have released guidelines for the echocardiographic assessment of atrial septal defects and patent foramen ovale.  They include the following:
Conventional 2-dimensional, 3-dimensional, and Doppler echocardiography methodology for evaluation of the interatrial septum from transthoracic echocardiographic, transesophageal echocardiographic, and intracardiac echocardiographic ultrasound technologies.
Echocardiographic parameters to characterize normal interatrial septum and abnormalities of atrial septal defect, atrial septal aneurysm, and patent foramen ovale.
Recognition of which images to use for evaluation of patients with atrial septal defect, atrial septal aneurysm, and patent foramen ovale.
In patients with an ostium secundum defect, electrocardiogram (ECG) results usually demonstrate the following:
Right ventricular hypertrophy
rSR' pattern in the right precordial leads with a normal QRS duration (Whether the delay in right ventricular activation is a manifestation of right ventricular volume overload or a true conduction delay in the right bundle branch and peripheral Purkinje system is not clear.)
In patients with septum primum ASD, ECG results in patients with a primum defect may demonstrate the following:
Left-axis deviation of the P wave in the frontal plane (manifested by a negative P wave in lead III) may be noted.
Left-axis deviation and counterclockwise rotation of the QRS suggest the presence of either an ostium primum defect or a secundum ASD in association with mitral valve prolapse.
Prolongation of the PR interval may be seen with all types of ASDs, including ostium primum defect. The prolonged conduction time may be related to both the increased size of the atrium and the increased distance for internodal conduction produced by the defect.
In ostium primum ASD, ECG results are characteristic and demonstrate a right ventricular conduction defect accompanied by left anterior division block, left-axis deviation, and superior orientation and counterclockwise rotation of the QRS loop in the frontal plane.
Chest radiographs usually demonstrate nonspecific findings, such as enlargement of the right atrium, right ventricle, pulmonary vasculature, left atrium, and proximal segment of the SVC.
Findings on CT scans, particularly the ultrafast CT scan, are specific; however, the CT scanner is less portable than the echocardiogram machine. Findings include clear separation of the atrial septa. Size of the cardiac chambers can be measured accurately. See the image below.
MRI, especially cine MRI, has a sensitivity and specificity of over 90% in delineating septal defects; however, greater portability and more widespread use of echocardiography have resulted in a very limited role for MRI in patients with ASD. [5, 6]
Echocardiographic features include the following:
Pulmonary arterial and right ventricular dilatation and anterior systolic (paradoxic) septal motion (if significant right ventricular volume overload is present) may be noted.
Atrial septal defect may be visualized directly using 2-dimensional (2D) echo imaging, especially from a subcostal view.
Transesophageal color-coded Doppler echocardiography (TEE) provides excellent visualization of defects of the atrial septum.
Associated mitral valve prolapse also may be identified using echocardiographic examination.
Supplemented by conventional or color-coded Doppler flow and/or contrast echocardiography, 2D echocardiography has superseded cardiac catheterization as the confirmatory test for ASD. Cardiac catheterization is used if inconsistencies exist in the clinical data or if significant pulmonary hypertension is suggested.
Using cardiac catheterization, diagnosis may be confirmed easily by passing the catheter across the atrial defect. The site at which the catheter crosses, if high in the cardiac silhouette, may suggest a sinus venosus defect. If the defect is mid septal in location, a patent foramen ovale or ostium secundum defect is indicated. If the defect is low septal, a primum defect is indicated.
Serial determinations of oxygen saturation or indicator dilution curve techniques may be used to estimate the magnitude of the shunt. In the absence of pulmonary hypertension, pressures on the right side of the heart often are normal, despite a large shunt.
When a high oxygen saturation is found in the SVC or when the catheter enters pulmonary veins directly from the right atrium, a sinus venosus defect is likely, and indicator dilution curves and selective angiography aid in identifying the number and location of the anomalous veins. Partial anomalous pulmonary venous connection, although usually associated with a sinus venosus defect, may accompany secundum defects.
Left ventricular angiography
Selective LV angiography identifies prolapse of the mitral valve and allows assessment of the magnitude of the mitral regurgitation that may be present in these patients.
In ostium primum ASD, the interatrial septal tissue is absent in the region of the crest of the interventricular septum; the trileaflet configuration of the mitral valve also may be identified. The subxiphoid long-axis view of the LV outflow tract shows the characteristic gooseneck deformity in a manner similar to that of a right anterior oblique LV angiogram.
Intracardiac electrophysiologic studies reveal a high incidence of intrinsic dysfunction of the sinoatrial and atrioventricular nodes, which persists after surgical repair. These intrinsic nodal abnormalities are more common in sinus venosus defects than in ostium secundum defects.
Occasionally, echocardiographic results may fail to provide adequate information in the presence of high pulmonary pressures or associated structural abnormalities (ie, mitral regurgitation).
Limitations exist for the use of MRI in critically ill neonates because of the lack of portability and the difficulties in treating occasional patients in the MRI environment. Portability is not necessarily a problem for CT or MRI in evaluation of ASD, because most patients are not usually that sick. Echocardiography provides very good results and is cheaper. In addition, no ionizing radiation is used.
Still investigational is the use of transcatheter closure by way of a clamshell-configuration double umbrella or a buttoned device (Amplatzer septal occluder; AGA Medical Corp., Plymouth, Minn.) using fluoroscopic or transesophageal echocardiographic imaging guidance. [16, 17] Intracardiac echocardiographic guidance also is used. [18, 19, 20] A detailed description follows:
There are currently 2 devices approved under humanitarian device exemption for percutaneous closure of patent foramen ovale in patients with a history of recurrent paradoxical embolus. They are the CardioSEAL (NMT Medical, Boston, Mass.) clamshell device (which we use at Tampa General Hospital) and the Amplatzer atrial device.
- The CardioSEAL is a double-umbrella device that is introduced through an 11F introducer. It is therefore most suitable for adults. A new model, the STARflex device, has 2 pentagonal umbrellas and is a little better at self-centering. US clinical trials are under way. Both devices have the CE mark and are widely used in Europe. While they are excellent for PFO, only small ASDs (< 22 mm) may be closed with them.
- The Amplatzer device is a nitinol double-disk–shaped device with an absorbent center that may be introduced through an 8F introducer; it is better for children. Larger models are also good for ASD and may be used when there is a poor tissue rim, unlike with the CardioSEAL and STARflex devices. [21, 22]
In addition, there are 3 other devices:
- The ASDOS (Sulzer-Osypka, Grenzach-Wyhlen, Germany) has been used in Europe for over 10 years. It is a double-umbrella device, in which each half is introduced from a different access site. It requires both venous and arterial access and is very tricky to insert. It is rapidly being abandoned.
- The Buttoned Device, one of the older devices is still in use in Miami, Fla. It has 2 fabric halves that are held together with wire "buttons." The right atrial half is pushed over the buttons using a pusher to fasten the halves together. It is also being abandoned at most centers. It has never made it beyond the investigational phase.
- The HELEX septal occluder (W.L. Gore and Associates, Flagstaff, Ariz.) is a spiral wire and fabric device and may be placed via very small sheaths. It has a very low profile and is tricky to deploy. 
Limitations of this technique include the following:
Difficulties in centering the device
The need to use a large-sheath delivery system
The need to have more than a 4-mm separation between the edges of the defect and other important cardiac structures
The inability to close defects in which the stretched diameter exceeds 22 mm
Chest radiographs usually reveal the following findings:
Enlargement of the right atrium and ventricle may be demonstrated.
Dilatation of the pulmonary artery and its branches may be demonstrated.
Increased pulmonary vascular markings may be demonstrated. In general pulmonary arterial overcirculation is almost always noted when at least a 2:1 shunt is present.
The vascular pedicle (ascending aorta and arch and SVC shadow) is small. Dilatation of the proximal portion of the SVC occasionally is noted in patients with a sinus venosus defect.
Left atrial dilatation is extremely rare (the left atrium is decompressed by the ASD) but may be observed when significant mitral regurgitation exists. The left ventricle is normal.
The degree of confidence is reasonably good if there are typical radiographic findings, but confirmation with echocardiography is usually necessary.
An ASD should be differentiated from other etiologies of acyanotic heart disease with increased pulmonary vascularity. Left atrial enlargement is seen in ventricular septal defects and patent ductus arteriosus, not in ASDs.
Transverse tomography provides clear spatial separation of the inflow and outflow portions of the atrial and ventricular septa.
As a result of the absence of overlying structures defined on CT scans and the 3-dimensional (3D) nature of ultrafast CT acquisition, the size of the atria and ventricles can be measured.
See the image below depicting atrial septal defect on contrast-enhanced CT.
The degree of confidence is quite good. Although many cardiac anomalies, such as septal defects, have been demonstrated using CT or ultrafast CT scans, these techniques have not found widespread use owing to the ease and the usual diagnostic superiority of 2D echocardiography and MRI.
Magnetic Resonance Imaging
A high natural contrast exists between the blood pool and the cardiovascular structures because of the lack of signal from flowing blood using the spin-echo MRI technique or because of the bright signal from blood using the gradient-echo (cine) MRI technique.
A wide range of soft-tissue contrast provides the potential for the characterization of myocardial tissue.
Imaging can be performed in any plane, including those parallel and perpendicular to the major axes of the ventricles.
Morphologic information is provided by ECG and respiratory-gated spin-echo and cine MRI scans.
Ventricular volumes, mass, and function can be obtained by using cine MRI scans.
Shunt volumes, valvular function, and pressure gradients across valves and conduits can be estimated using velocity-encoded cine MRI (velocity-flow mapping).
Since the slice thickness can be reduced to 2-3 mm, using 3D volume techniques, MRI can be used to display morphology of the heart in infants.
Other capabilities of MRI include the following:
Cine MRI can provide multiple images per cardiac cycle so that ventricular function can be evaluated.
Velocity-encoded cine MRI allows measurement of blood flow and velocity in the aorta and pulmonary artery and across valves and conduits.
MR angiography permits high-resolution 3D examination of vessels and can noninvasively establish the presence of anomalous pulmonary veins that lead to shunting.
Sensitivity and specificity
Sensitivity and specificity of more than 90% for the identification of atrial level abnormalities have been reported, including in ostia secundum and primum ASDs and anomalous pulmonary venous connections. Much of the diagnostic information provided by MRI also can be demonstrated by 2D echocardiography.
As has been recognized, a thin fossa ovalis can be confused with an ostium secundum ASD on static MRI images. On static images, an ASD has increased thickness of the septum at the edges of the defect, while the edges of the defect in a fossa ovalis are very thin. Avoiding this misinterpretation may be possible by using cine MRI techniques, which demonstrate a flow void extending into the right atrium due to a left-to-right shunt from the ASD.
Clinical use of MRI capabilities is influenced by the widespread application of echocardiography and Doppler techniques for many of the same purposes. Consequently, the current clinical role of MRI is to supplement information acquired by echocardiography.
The role of MRI in the evaluation of congenital heart disease is still evolving. Experience in large numbers of patients has not yet been achieved; therefore, widespread familiarity with the technique and its attributes, limitations, and indications does not exist.
Echocardiographic features include the following:
Pulmonary arterial and right ventricular dilatation may be noted.
Anterior systolic (paradoxic) or flat interventricular septal motion may be noted if significant right ventricular volume overload is present. The defect may be visualized directly by 2D echo imaging, particularly from a subcostal view of the interatrial septum.
TEE provides excellent visualization of defects of the atrial septum.
Associated mitral valve prolapse may be identified.
In ostium primum atrial septal defect, 2D echocardiography is considered the standard for the diagnosis. Important features include enlargement of both the right ventricle and pulmonary arteries; systolic anterior ventricular septal motion; prolonged mitral-septal apposition in diastole; and various abnormalities in mitral valve motion
The defect is visualized easily from the precordial, apical, and subxiphoid positions, with subxiphoid views best demonstrating the relation between the atrial defect, AV valves, and interventricular septum. Interatrial septal tissue is absent in the region of the crest of the interventricular septum; the trileaflet configuration of the mitral valve also may be identified.
The subxiphoid long-axis view of the LV outflow tract exhibits the gooseneck deformity similar to that seen on a right anterior oblique LV angiogram.
Echocardiography is particularly useful for detecting and characterizing a double-orifice mitral valve, an association that occurs in approximately 3% of patients with ostium primum atrial defect.
Echocardiography allows detection of single LV papillary muscle, hypoplasia of the left ventricle, and coarctation of the aorta, seen especially in symptomatic infants with an ostium primum atrial defect but without trisomy 21.
See the images below depicting atrial septal defect on echocardiography.
Degree of confidence
The degree of confidence is very good. Supplemented by conventional or color-coded Doppler flow and/or contrast echocardiography, 2D echocardiography has supplanted cardiac catheterization as the confirmatory test for ASD.
Echocardiography may fail to provide adequate information in patients with associated structural cardiac abnormalities.
Nuclear imaging may be useful in some patients for assessing cardiac function.
Equilibrium radionuclide angiocardiography
In equilibrium radionuclide angiocardiography (ERNA), ECG is used to define the temporal relation between the nuclear data and the components of the cardiac cycle. Several hundred heartbeats are sampled, accumulated, quantified, and displayed in an endless-loop cine format for qualitative visual interpretation and analysis.
Equilibrium blood pool is labeled using technetium-99m. Following a single labeling procedure, serial studies can be obtained for periods ranging from 4-6 hours. Conventional Anger scintillation cameras are used for these studies. Data from the left anterior oblique view also are used for qualitative analysis of global LV function.
Using a count-based approach, the LV ejection fraction and other indices of filling and ejection are calculated by using the LV radioactivity present at various points throughout the cardiac cycle. Right ventricular function is evaluated best using first-pass techniques.
In equilibrium radionuclide angiocardiography (ERNA) imaging, since radioactivity is present within the entire intravascular space, it is necessary to correct for the contribution of activity in adjacent intravascular structures to the overall measured LV radioactivity. Major contributions to this background activity come from the lungs and left atrium.
First-pass radionuclide angiocardiography
The first-pass radionuclide angiocardiography (FPRNA) technique involves sampling for only seconds during the initial transit of the bolus through the central circulation. High-frequency components of this radioactive passage are recorded and analyzed quantitatively. Analyzing right and left ventricular function independently during this brief transit is possible. Regional function also can be assessed from generated outlines of ventricular silhouettes. For the most part, technetium-99m radiopharmaceuticals are used for first-pass studies.
Alternatively, a gated first-pass technique can be used at the time of tracer injection for a subsequent equilibrium study. Right ventricular ejection fraction is a highly afterload-dependent measure. The finding of abnormal right ventricular ejection in the absence of intrinsic right ventricular disease is excellent evidence of acquired pulmonary hypertension.
In contrast to the equilibrium study, the choice of scintillation camera for the first-pass study (FPRNA) is critical. Instrumentation must be used that provides high sensitivity with respect to count-rate acquisition.
If system linearity is lacking and major dead-time losses occur, then data are inaccurate. Several technical issues are relevant to performance of first-pass studies. The injection technique must be impeccable; it is necessary to have a compact radionuclide bolus without streaming. Injections can be made from either the jugular or the antecubital venous systems. The presence of major arrhythmia during the evaluation invalidates the data.
LV angiography in the right anterior oblique view may show the characteristic gooseneck deformity in patients with a primum defect.  The degree of confidence is fair. Findings in LV angiography are characteristic of atrial septal defect.