Atrial Septal Defect

Alexandra M. Menillo; Lawrence Lee; Anthony L. Pearson-Shaver.

Author Information

Last Update: August 10, 2020.

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Introduction
Atrial septal defect (ASD) is one of the most common types of congenital heart defects,
occurring in about 25% of children.[1] An atrial septal defect occurs when there is a failure
to close the communication between the right and left atria. It encompasses defects involving
both the true septal membrane and other defects that allow for communication between both
atria. There are five types of atrial septal defects ranging from most frequent to least: patent
foramen ovale, ostium secundum defect, ostium primum defect, sinus venosus defect, and
coronary sinus defect.[2] Small atrial septal defects usually spontaneously close in
childhood. Large defects that do not close spontaneously may require percutaneous or
surgical intervention to prevent further complications such as stroke, dysrhythmias, and
pulmonary hypertension.
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Etiology
Though atrial septal defects occur as singular defects, ASDs are associated with Mendelian
inheritance, aneuploidy, transcription errors, mutations, and maternal exposures. Atrial septal
defects are noted in patients with Down syndrome, Treacher-Collins syndrome,
Thrombocytopenia-absent radii syndrome, Turner syndrome, and Noonan syndrome; these
syndromes occur as a result of Mendelian inheritance. Maternal exposure to rubella and
drugs, such as cocaine and alcohol can also predispose the unborn fetus to develop an ASD.
Additionally, ASDs have been associated with familial genetic disorders and conduction
defects. Transcription factors important during the atrial septation include GATA4, NKzX2-5,
and TBX5. Holt-Oram syndrome ("heart-hand" syndrome) commonly characterized by a
congenital heart defect (ASD in 58% of patients or VSD in 28% of patients), dysrhythmias
and upper limb malformations usually involving the hands are
associated with TBX5 mutations.[3] Mutations in the NKX2-5 gene have been associated with
congenital heart disease (ASD and Tetralogy of Fallot), AV blocks, and juvenile sudden
cardiac death.[3] 
Atrial septal defects occur with other congenital heart defects (i.e., ventricular septal defects).
In some patients with congenital heart disease, communication between the left and right
heart circulations is crucial for survival. Patients with tricuspid atresia, transposition of the
great vessels, variants of hypoplastic left heart syndrome, pulmonic/ tricuspid atresia with
hypoplastic right heart, transposition of the great vessels, and total anomalous pulmonary
venous return require the alternate blood flow that an ASD provides to survive the primary
lesion until a more definitive solution is provided.[4]
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Epidemiology
The prevalence of congenital heart disease and ASDs has increased over the past 50 years. 
In the 1930s congenital heart disease was diagnosed in less than 1 per 1000 live births.  In
recent years, congenital heart disease is diagnosed in 9 per 1000 live births. Atrial septal
defects were identified between 1945 and 1949 in less than 0.5 live births per 1000.  More
recent epidemiologic data suggest that ASDs occur in 1.6 per 1000 live births.[5] The noted
increase in prevalence is probably not due to an increase in disease as much as improvements
in imaging modalities and training of practitioners. Several factors have been associated with
the increased prevalence of congenital heart disease including advanced maternal age.
Interestingly, economic and geographical differences have been noted in the diagnosis.
Congenital heart disease is diagnosed more commonly in patients in developed countries
who have higher incomes.[6]
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Pathophysiology
Atrial septation begins during the fourth week of gestation.[7] Septation begins with the
growth of the primary atrial septum (septum primum) from the roof of the primitive atrium
caudally towards the endocardial cushions. The caudal end of the septum primum is covered
by mesenchymal cells derived from the embryonic endocardium (the mesenchymal cap).
[8] As the septum primum grows toward and attaches to the atrioventricular endocardial
cushions, it closes and ultimately obliterates the ostium primum (the gap between the
mesenchymal cap and the atrioventricular cushions). Once the leading edge of the septum
primum attaches anteriorly to the atrioventricular cushions, the primitive atrium
is divided into the right and left atria. The septum primum dorsally attaches to the dorsal
mesenchymal protrusion. As the ostium primum closes, cell death occurs in the dorsal aspect
of the septum primum, forming the ostium secundum.[8] The septum secundum forms from
the roof of the atria to the right of the septum primum. As it grows caudally and partially
covers the ostium secundum, the space created between the septum primum and the septum
secundum creates the foramen ovale. In the fetus, the foramen ovale allows for oxygen rich
blood to bypass the lungs by flowing directly from the right atrium to the left atrium. When
the child is born and begins to breathe, the change in pulmonary vascular resistance and the
resultant decrease in right atrial pressure that occurs allows for the septum primum to close
the foramen ovale.
As the patent foramen ovale is a subclass of the ostium secundum defect, it is not a defect of
the "true septum." The patent foramen ovale is the most common septal anomaly and occurs
when ends the septum primum, and the septum secundum do not approximate and close the
foramen ovale after the child breathes its first breath. The 4 types of atrial septal defects
are[2]:
1. Ostium secundum defect: This defect occurs when there is increased reabsorption
of the septum primum in the atrium's roof, or the septum secundum does
not occlude the ostium secundum. Ostium secundum defects are associated with
pediatric syndromes such as Noonan, Treacher-Collins, and thrombocytopenia-
absent radii syndrome.[8]
2. Ostium primum defect: The third most common defect of the atrial septum that
occurs due to the failure of the septum primum to fuse with the endocardial
cushions. Ostium primum defects result in atrioventricular communications and
are best considered among the spectrum of atrioventricular septal defects.[8] 
3. Sinus venosus defect: Superior and inferior defects occur, and neither involves the
true membranous septum.
o Superior defect: This occurs when the orifice of the superior vena cava
overrides the atrial septum above the oval fossa (the remnant of the
foreman ovale) and drains both the left and right atria. The superior sinus
venosus defect and a partial anomalous connection of the right superior
pulmonary vein to the superior vena cava often occur together.[8]
o Inferior defect: This occurs when the orifice of the inferior vena cava
overrides both atria. The inferior sinus venosus defect and an anomalous
connection of the right inferior pulmonary vein to the inferior vena cava
can occur together. [8] The inferior defect is less common than the superior
defect.
4. Coronary sinus defect: The coronary sinus is a vessel that runs along the groove
between the left atrium and left ventricle and collects veins that represent
the venous return of the heart muscle.  It normally drains into the floor of the right
atrium above the septal leaflet of the tricuspid valve. A defect or hole in the
common wall between the left atrium and the coronary sinus (called "unroofing"
of the coronary sinus) creates a communication between the right and left atria.
Normally, the pressure in the right atrium is significantly lower than the left atrium;
therefore, blood flows from the left atrium to the right atrium causing a left-to-right shunt.
The size of the defect determines how significant the shunt is. Significant shunts have a ratio
of pulmonary (Qp) to systemic flow (Qs) that is greater than 1.5:1 (Qp/Qs > 1.5).[4] Chronic
volume overload due to high pulmonary blood flow causes remodeling of the pulmonary
vasculature. As pulmonary vessels remodel, the layer of smooth muscle increases in the
vascular wall. Because the muscle layer in the vascular wall increases, resistance to flow in
the pulmonary circuit increases. Due to the increased vascular resistance and pulmonary
pressures increase, and pulmonary hypertension develops. Once pulmonary pressures equal
systemic pressures, the shunt across the ASD reverses, and deoxygenated blood flows into
the left atrium and systemically. When the reversal of the shunt across an ASD occurs due to
pulmonary hypertension, a condition known as Eisenmenger syndrome develops.
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History and Physical

Atrial septal defects are frequently asymptomatic. The characteristic murmur is a soft,
systolic ejection murmur over the pulmonic area (second intercostal space) combined with a
wide, fixed splitting of S2.[9]  Many ASDs go undiagnosed until adulthood; therefore,
treatment, especially of large defects, is often delayed. Untreated large defects can cause
exercise intolerance, cardiac dysrhythmias, palpitations, increased incidence of pneumonia,
pulmonary hypertension and increased mortality.[10] Eisenmenger syndrome is a rare, but
severe complication of untreated ASDs due to vascular remodeling caused by chronic over
flow (through a left-to-right shunt). As the vascular resistance increases right atrial pressures
approach systemic. When right atrial pressures exceed systemic pressures, there is a reversal
of shunt flow. Clinically Eisenmenger syndrome patients develop chronic cyanosis,
increased pulmonary vascular resistance, dyspnea on exertion, syncope, and increased
susceptibility to infection.[11]
Patients with smaller heart defects (less than 5 mm) might not develop any symptomology
while patients with defects ranging between 5 to 10 mm will present in the fourth or fifth
decade of life.[12] Patients with larger defects present sooner, in the third decade of life.
[12] Patients may present with dyspnea, fatigue, exercise intolerance, palpitations or signs of
right-sided heart failure. Approximately 20% of adult patients develop atrial
tachydysrhythmias preoperatively. Evidence of stroke or transient ischemic attack especially
following the diagnosis of a peripheral blood clot should raise suspicions for an ASD.
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Evaluation
Diagnostic imaging is important in determining the size of the defect and is crucial in
determining treatment options. A transthoracic echocardiogram is the gold standard imaging
modality. A transthoracic echocardiogram allows one to detect the size of the defect,
understand the direction of blood flow, find associated abnormalities (involvement of the
endocardial cushions and atrial-ventricular valves), examine the heart for structure and
function, estimate pulmonary artery pressure, and estimate the pulmonary/systemic flow
ratio (Qp/Qs).[12] A transesophageal echocardiogram is a better tool for diagnosing the rarer
cardiac defects.
Though echocardiography is the gold standard for evaluation of ASDs, other diagnostic
modalities include cardiac CT and MRI. Both CT and MRI examine structures surrounding
the heart and in the thoracic cavity. Chest x-ray findings are not as helpful diagnostically,
though the chest x-ray assists providers to monitor clinical status by identifying
cardiomegaly and pulmonary artery enlargement. Exercise testing can help determine the
reversibility of shunt flow and the response of patients with pulmonary artery hypertension to
activity.[12] Cardiac catheterization is contraindicated in patients who are young and present
with small, uncomplicated ASDs.[12]
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Treatment / Management
Patients with atrial septal defects less than 5 mm in size frequently experience spontaneous
closure of the defect in the first year of life. Defects that are greater than 1cm will most
likely require medical/surgical intervention to close the defect.[13] Patients presenting
with atrial dysrhythmias initially require control of the abnormal rhythm and anticoagulation;
definitive intervention can occur once the team gains control of the dysrhythmia.
[14] Monitoring adult patients with small defects and no signs of right heart failure is
appropriate. An echocardiography every 2 to 3 years evaluates right heart function and
structure.[14] History of TIA or stroke requires more aggressive monitoring and
possibly surgical intervention.
If an ASD requires closure, options include percutaneous and surgical intervention.
Indications for treatment include stroke, a hemodynamically significant shunt greater than
1.5:1 and evidence of systemic oxygen desaturation.[15] Percutaneous transcatheter
closure poses less risk for the patient, but it is only useful for the closure of ostium secundum
defects. Percutaneous transcatheter ASD closure has a post-procedural complication risk of
7.2% compared to a post-surgical complication risk of 24%.[15] Complications associated
with percutaneous closure risk include arrhythmias, AV blocks, cardiac erosion, and
thromboembolism.[15] Contraindications to percutaneous closure are small
hemodynamically insignificant ASDs, ostium primum defects, sinus venosus defects and
coronary sinus defects, and secundum defects with advanced pulmonary hypertension.
[15] When atrial septal defects are closed percutaneously, patients require antiplatelet
therapy for the subsequent 6 months.[15] Women with large ASDs and Eisenmenger
Syndrome should avoid pregnancy due to the risks of aggravating pulmonary artery
hypertension that might be present and the increased occurrence of dysrhythmias.
[14] Surgical closure of atrial septal defects requires the placement of a patch over the lesion
through an incision in the right atrium.
In conclusion, atrial septal defects are common congenital heart defects and can range from
clinically asymptomatic lesions to lesions that cause pulmonary hypertension, systemic
cyanosis and vascular complications such as strokes. Most small defects will spontaneously
close in the first year of life; however, large defects associated with significant systemic to
pulmonary shunts and systemic oxygen desaturation require percutaneous of surgical
intervention.
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Differential Diagnosis
1. Atrioventricular septal defect
 2. Ventricular septal defect
3. Cyanotic congenital heart disease (sinus venosus defects and coronary sinus
defects)
1. Total anomalous pulmonary venous return
2. Pulmonary stenosis
3. Truncus arteriosus
4. Tricuspid atresia
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Complications
1. Atrial dysrhythmias
2. Pulmonary arterial hypertension
3. Right-sided congestive heart failure
4. Transient ischemic attack/stroke
5. Eisenmenger syndrome
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Pearls and Other Issues

1. Atrial septal defects are one of the most common types of congenital heart defects
and are present in about 25% of live births.
2. The most common type of ASD is an ostium secundum defect. 
3. The transcutaneous percutaneous approach to ASD closure is only indicated in
patients with ostium secundum defects. Surgical intervention is required for the
ostium primum, sinus venosus, and coronary sinus defects.
4. Transcutaneous percutaneous closure of ASD is contraindicated in patients with
increased pulmonary hypertension.
5. Dysrhythmias occurring due to ASDs are treated with cardioversion followed by
anticoagulation. If cardioversion is not successful, rate control with medications
and anticoagulation are necessary.
6. Eisenmenger syndrome is a late complication of ASD that occurs secondary to
pulmonary hypertension.
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Enhancing Healthcare Team Outcomes
Improving healthcare team outcomes in patients with atrial septal defects requires an
interprofessional team with strong input from the patient's pediatrician, primary care
physician and nurse practitioner. In most cases, ASD is first diagnosed by the primary
provider and the patient referred to the cardiologist.
Adults and children with atrial septal defects require consistent follow up with cardiologists
to monitor the heart structure, heart function, and the patient's hemodynamic status. 
Asymptomatic patients should be followed by the clinicians and the patient educated that
elective closure will reduce the risk of pulmonary hypertension.
When a patient requires intervention, cardiac interventionists and thoracic surgeons with
experience caring for children and adults with congenital heart disease provide the best
outcomes for patients with congenital heart disease.[14] Monitoring with echocardiograms
assesses the functional health of the heart and right heart function. Dysrhythmias require
aggressive control. Pregnancy is not advised for women with large ASD and pulmonary
hypertension.[14]
Due to the challenges of the disease, and family concerns, it is important for the nurse to
assist with family education. The family must be taught about the signs and symptoms of
complications and when the patient should return for further evaluation. The nurse should
assist in making sure the patient has regular follow-up appointments. In followup after the
procedure, the nurse should monitor the patient for changes in vital signs and any
development of a new murmur or insidious unexplained fever. Open communication
between the interprofessional team is recommended to ensure the best outcomes with
minimal complications.
Outcomes
If the ASD is closed, the outcomes are excellent; however, if the ASD is not treated, patients
may develop arrhythmias and pulmonary hypertension with poor outcomes.
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Continuing Education / Review Questions

 Earn continuing education credits (CME/CE) on this topic.
 Access board review questions for this topic.
 Comment on this article.
Figure
Atrial septal defect, next to a normal heart. Contributed by Centers for Disease Control and
Prevention (Public Domain)

Figure
This is an ultrasound picture of the heart, an echocardiogram. It depicts a atrial septal defect,
of the ostium secundum type. Contributed by Wikimedia Commons, Kjetil Lenes (Public
Domain)

Figure
Transesophageal echocardiography image showing the presence of a secundum atrial septal
defect with color Doppler left to right shunt flow (arrow) across the interatrial septum
between the left atrium (LA) and right atrium (RA). Contributed by Amgad
Makaryus, (more...)
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