Question 1 of 10

    Atrial Septal Defect (ASD)

    Asd-web[1]

    Atrial septal defect (ASD) is a congenital malformation characterized by a communication between the atrial chambers of the heart.

    The disorder arises due to this process: congenital.

    Presentation

    History

    ASDs are usually asymptomatic in infancy and childhood. In most cases, the symptoms manifest by the third decade of life. Due to paucity of symptoms, most times ASDs go undetected in childhood. Most cases of ASD, even moderate to large ASDs, do not manifest symptoms during childhood. Some cases of ASD may show common symptoms like fatigue, dyspnoea on exertion, exercise intolerance and frequent respiratory infections during childhood. In childhood, an accidental finding of a heart murmur on routine examination or an abnormal finding on chest radiograph or echocardiogram (ECG) may help to diagnose ASD.

    Signs and symptoms

    The signs and symptoms are dependent on various other factors like pulmonary arterial hypertension, atrial arrhythmias and other ASD complications. As age progresses, the heart musculature too ages leading to manifestation of signs and symptoms. In adults, common symptoms include shortness of breath, exhaustion, palpitations, atrial arrhythmia, syncope and stroke.

    Complications

    These include infective endocarditis, hypertrophy of the right atrium and the right ventricle, pulmonary arterial hypertension, paradoxical embolization, stroke, cardiac failure especially right side failure, arrhythmias, palpitations secondary to supra-ventricular arrhythmias, or recurrent respiratory infections. In rare cases, it may lead to reversal of the shunting that is from right to left (Eisenmenger syndrome).

    Entire body system
    Down Syndrome
    • Down syndrome – patients with Down syndrome have higher rates of ASDs, especially a particular type that involves the ventricular wall.[en.wikipedia.org]
    • […] right pulmonary venous return to the superior vena cava or right atrium coronary sinus type ASD ("unroofed coronary sinus") 1% see: unroofed coronary sinus Associations ASD's usually tend to be isolated anomalies, of which its associations include: Down[radiopaedia.org]
    • Specific risk factors for a VSD include being of Asian heritage, having a family history of congenital heart disease, and having other genetic disorders, such as Down syndrome.[healthline.com]
    • ASD occurs in individuals with a variety of syndromic and genetic disorders including Down syndrome (trisomy 21) and the following Mendelian genetic mutations: 4p16 (EVC; Ellis van Creveld syndrome) 5q34 (NKX2E) 6q21.3 (ASD I, ASD II) 8q23.1-p22 (GATA4[nationwidechildrens.org]
    Pulmonary Valve Stenosis
    • Pulmonary valve stenosis secondary to dysplasia must be excluded.[ccasociety.org]
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  • respiratoric
    Hemoptysis
    • Erythrocytosis • The use of air bubble filters on all intravenous lines to prevent air embolism with flushes and infusions • Avoiding routine phlebotomy by monitoring blood count and symptoms • Observation for anemia and thrombocytopenia • Management of hemoptysis[emoryhealthcare.org]
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  • cardiovascular
    Heart Disease
    • The UAB Congenital Heart Disease program offers the most advanced care for structural heart disease, which often requires lifetime monitoring and care.[uabmedicine.org]
    • Exercise Exercise is important even in those with heart disease.[nuh.com.sg]
    • Disease Emory's Adult Congenital Heart Center physician team manages pregnant congenital heart disease patients as well as patients who are thinking about getting pregnant.[emoryhealthcare.org]
    • Heart Disease: How Disease Management Helps Regular physical activity and a heart-healthy diet are two essential components of managing heart disease.[intermountainhealthcare.org]
    Heart Murmur
    • Many healthy children have heart murmurs.[pediatricct.surgery.ucsf.edu]
    • A heart murmur is the increased blood flow to the lungs which creates creates a swishing sound.[chd-uk.co.uk]
    • The heart murmur is from the abnormal flow of blood through the heart.[urmc.rochester.edu]
    • Heart murmurs are evaluated on the basis of pitch, loudness and duration, which give the cardiologist an initial idea of which heart problem a child may have.[heart.phoenixchildrens.org]
    • Common signs associated with ASD include: Exercise intolerance Fainting/loss of consciousness ( syncope ) Trouble breathing ( dyspnea ) Coughing Heart murmur Bluish skin ( cyanosis ) Fluid buildup in the abdomen ( ascites ) if right-sided heart failure[petmd.com]
    Systolic Murmur
    • Systolic Murmurs - Atrial Septal Defect You are listening to a typical example of the murmur caused by an atrial septal defect.[wilkes.med.ucla.edu]
    • Clinical manifestations include a characteristic harsh, scratchy systolic murmur and a fixed splitting of the second heart sound, which does not vary with respiration.[medical-dictionary.thefreedictionary.com]
    • A soft systolic murmur is the usual reason for referral.[rjmatthewsmd.com]
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  • Workup

    On physical examination, there is presence of right ventricular pulsation due to higher diastolic filling and increased stroke volume. The pulmonary artery is dilated and hence, its pulsations are palpable. S2 is widely split and fixed in most cases of ASD.

    Moderate to large, left to right shunt produces a systolic ejection murmur in the second inter-costal space at the upper left sternal border. Increased flow across the tricuspid valve causes a mid-diastolic rumbling murmur in cases with large left to right shunt.

    An apical systolic murmur of mitral regurgitation may be present in cases with primum ASD. In cases of severe pulmonary arterial hypertension, atrial shunt reversal (Eisenmenger syndrome) may occur which leads to cyanosis and clubbing.

    Electrocardiography

    In ostium secundum ASD, the electrocardiogram shows right axis deviation and right bundle branch block. In ostium primum ASD, it shows left axis deviation and right bundle branch block. In sinus venosus ASD, it shows left axis deviation and a negative P wave in lead III.

    Imaging

    The chest X-ray shows a dilated pulmonary artery, prominent pulmonary vascular markings, and enlarged right atrial and ventricular chambers in patients with significant left to right shunting.

    Doppler echocardiography and contrast echocardiography provide details of the defect. It has been found that Doppler echocardiography may be inaccurate often in estimating the pulmonary artery pressure and cardiac output while evaluating patients with pulmonary hypertension as sequelae to ASD [4]. Transthoracic echocardiography (TTE) is a non-invasive imaging procedure for ostium primum and ostium secundum ASDs. For sinus venosus, the imaging procedure of choice is transesophageal echocardiography (TEE).

    Use of non-invasive tools like echocardiography, right heart catheterization (RHC) and tissue Doppler imaging (TDI) for detecting pulmonary hypertension and right heart dysfunction are absolutely essential [5]. MRI and CT can be useful in the evaluation of patients with ASDs. Cardiac catheterization will aid in the diagnosis when the non-invasive techniques are not conclusive of the diagnosis [6].

    Test Results

    Cardiac Catheterization
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  • Jugular Venous Pressure
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  • ECG

    P Wave
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  • Blocks
    Incomplete Right Bundle Branch Block
    • A common finding in the ECG is the presence of incomplete right bundle branch block, which is so characteristic that if it is absent, the diagnosis of ASD should be reconsidered.[en.wikipedia.org]
    • Investigations ECG ECG may be normal in infants and children with small shunts Typical findings include a tall P wave indicating right atrial enlargement, incomplete right bundle branch block pattern (rsR' in V1), and right axis deviation.[patient.info]
    • Voltage evidence of right ventricular hypertrophy may be seen in all ASDs, often in the form of “incompleteright bundle-branch block, with the more extreme forms usually found in patients with pulmonary hypertension.[circ.ahajournals.org]
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  • Axis
    Left Axis Deviation
    • When an ostium primum atrial defect is present, the ECG reveals left axis deviation.[healio.com]
    • Individuals with a sinus venosus ASD exhibit a left axis deviation of the P wave (not the QRS complex).[en.wikipedia.org]
    • First-degree AV block, left-axis deviation, voltage evidence of right ventricular hypertrophy.[circ.ahajournals.org]
    • Left axis deviation with a superior axis suggests a primum defect.[patient.info]
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  • Hypertrophy
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  • Imaging

    X-ray
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  • Treatment

    Small ASDs may close spontaneously. Larger defects require surgical intervention. Medical therapy can be used to treat the symptoms of ASD, but surgical intervention is a must for the closure of the defect. The operation for closure of Sinus venosus ASD has low mortality as well as low morbidity with improvement occurring irrespective of the age at which the surgery is performed [7].

    Transcatheter closure of ASD secundum defect using Occlutech Figull-N occlude is safer and more efficient in severely symptomatic patients less than 2 years of age [8].

    Prognosis

    ASDs with small defects may close spontaneously in some children. Larger defects require surgical intervention. Medical therapy can be used to treat the symptoms of ASD, but surgical intervention is a must for the closure of the defect. The operation for closure of Sinus venosus ASD has low mortality as well as low morbidity with improvement occurring irrespective of the age at which the surgery is performed [7].

    Transcatheter closure of ASD secundum defect using Occlutech Figulla-N occlude is safer and more efficient in severely symptomatic patients less than 2 years of age [8].

    If left untreated, there is a high risk of developing atrial arrhythmias and morbidity at later ages, making closure of defects with significant hemodynamic changes a necessary choice [9].

    Chance of survival of patients with untreated ASD beyond third or fourth decade of their life is less than 50%. Given risks associated with surgery, it is advisable to repair the defect as early as possible to avert hemodynamic sequelae [10].

    Complications

    Acyanotic Congenital Heart Disease
    • Atrial septal defect atrial septal defect An acyanotic congenital heart disease (CHD), which is common (1/3 of congenital heart defects) in adults and 2- to 3-fold more common in females, caused by nonclosure of the foramen ovale at birth, resulting in[medical-dictionary.thefreedictionary.com]
    Anomalous Pulmonary Venous Connection
    • Caval division technique for sinus venosus atrial septal defect with partial anomalous pulmonary venous connection.[circ.ahajournals.org]
    Atrial Arrhythmia
    • Adults and, rarely, adolescents may present with exercise intolerance, dyspnea, fatigue, and atrial arrhythmias.[merckmanuals.com]
    • With prolonged dilatation, right ventricular dysfunction and atrial arrhythmias can occur.[chw.org]
    • Atrial arrhythmias, particularly AF are common due to the physical distention of the atria; In severe cases the shunt can eventually reverse so that blood bypasses the lungs – this is termed Eisenmenger’s syndrome and is a poor prognostic factor.[myvmc.com]
    • These problems may include pulmonary hypertension (which is high blood pressure in the lungs), congestive heart failure (weakening of the heart muscle), atrial arrhythmias (which are abnormal rhythms or beating of the heart) and an increased risk of stroke[cincinnatichildrens.org]
    • arrhythmias, vascular complications and transient heart block). [ 15 ] Late complications are rare but atrial arrhythmias, stroke, device thrombosis, device erosion through the atrial wall or aortic root, device embolisation and death have all been reported[patient.info]
    Atrial Fibrillation
    • fibrillation or right bundle branch block.[orpha.net]
    • Atrial flutter and atrial fibrillation are also common.[patient.info]
    • fibrillation Almost half of atrial septal defects will close by themselves before the child is two years old.[dartmouth-hitchcock.org]
    • Abnormal heart rhythms , including atrial fibrillation or atrial flutter, affect 50 to 60 percent of all patients over 40 with an ASD.[my.clevelandclinic.org]
    Atrial Flutter
    • Atrial flutter and atrial fibrillation are also common.[patient.info]
    • The initial downward slope of the curve for the patients older than 40 years at the time of surgery reflects patients who had atrial flutter or fibrillation 1 month after surgery (all these 24 patients had documented atrial flutter or fibrillation before[circ.ahajournals.org]
    • Abnormal heart rhythms , including atrial fibrillation or atrial flutter, affect 50 to 60 percent of all patients over 40 with an ASD.[my.clevelandclinic.org]
    • Other adults will have had rhythm problems such as atrial flutter or atrial fibrillation that may require ongoing monitoring and often treatment.[cincinnatichildrens.org]
    Cardiac Arrhythmia
    • Patients with an uncorrected atrial septal defect may be at increased risk for developing a cardiac arrhythmia, as well as more frequent respiratory infections.[en.wikipedia.org]
    Mitral Valve Stenosis
    • An ostium secundum ASD accompanied by an acquired mitral valve stenosis is called Lutembacher's syndrome.[en.wikipedia.org]
    Ostium Secundum Atrial Septal Defect
    • Ostium Secundum Atrial Septal Defects Medication.[en.wikipedia.org]
    • When an ostium secundum atrial septal defect is present, the ECG reveals right axis deviation.[healio.com]
    • In the most common type, an ostium secundum atrial septal defect, the septum between the atria fails to form properly during foetal development, resulting in a permanent hole.[nice.org.uk]
    • The ostium secundum atrial septal defect accounts for 7% of all congenital heart lesions.[en.wikipedia.org]
    • There are four major types of atrial septal defects: Ostium secundum atrial septal defect.[heart.phoenixchildrens.org]
    Patent Ductus Arteriosus
    • These include patent ductus arteriosus, atrial septal defect, ventricular septal defect, tetralogy of Fallot and atrioventricular septal defects.[nuh.com.sg]
    • There was no clear evidence for any of the commonly diagnosed adult congenital abnormalities causing left to right shunt (ASDs, ventricular septal defect, patent ductus arteriosus) (Fig 1 ).[cardiovascularultrasound.biomedcentral.com]
    • Atrial septal defects commonly occur in otherwise normal hearts but may be associated with other heart defects including pulmonary stenosis, ventricular septal defect, partial anomalous venous return, patent ductus arteriosus, mitral valve prolapse, and[mottchildren.org]
    • Atrial septa) aneurysm has been associated with congenital heart diseases such as patent foramen ovale (PFO), atrial septal defects (ASD), ventricular septa) defects (VSD), valvular prolapse (VP), patent ductus arteriosus (PDA), Ebstein's anomaly, and[rjmatthewsmd.com]
    Pulmonary Hypertension
    • Eventually, pulmonary hypertension may develop.[en.wikipedia.org]
    • Pulmonary hypertension (high blood pressure in the arteries that supply blood to the lungs).[my.clevelandclinic.org]
    • Pulmonary hypertension is uncommon in children with isolated ASD but mild or moderate pulmonary hypertension is common in adults with large defects and tends to increase with age.[patient.info]
    • A loud P 2 will reflect pulmonary hypertension.[circ.ahajournals.org]
    Right Bundle Branch Block
    • An atrial septal defect should show a right bundle branch block, or RBBB ― sometimes incomplete ― on ECG.[healio.com]
    • ECG: May show some right bundle branch block and right axis deviation.[myvmc.com]
    • A common finding in the ECG is the presence of incomplete right bundle branch block, which is so characteristic that if it is absent, the diagnosis of ASD should be reconsidered.[en.wikipedia.org]
    • Investigations ECG ECG may be normal in infants and children with small shunts Typical findings include a tall P wave indicating right atrial enlargement, incomplete right bundle branch block pattern (rsR' in V1), and right axis deviation.[patient.info]
    Right Ventricular Hypertrophy
    • Right ventricular hypertrophy may be seen.[myvmc.com]
    • Mild right-axis deviation, voltage evidence of right ventricular hypertrophy.[circ.ahajournals.org]
    • Evaluation of RV systolic pressure (as an estimate of pulmonary artery systolic pressure (PASP) is done qualitatively by looking for right ventricular hypertrophy (RVH), the position of the interatrial and interventricular septum (IAS, IVS) and the direction[ccasociety.org]
    Secondary Pulmonary Hypertension
    • Incidence of secondary pulmonary hypertension in adults with atrial septal or sinus venosus defects.[circ.ahajournals.org]
    Syncope
    • Common signs associated with ASD include: Exercise intolerance Fainting/loss of consciousness ( syncope ) Trouble breathing ( dyspnea ) Coughing Heart murmur Bluish skin ( cyanosis ) Fluid buildup in the abdomen ( ascites ) if right-sided heart failure[petmd.com]
    • She described her syncopal episodes as typical for true syncope: episodes were 1) transient, 2) self-limited 3) leading to falling, 4) the onset was relatively rapid with spontaneous recovery.[cardiovascularultrasound.biomedcentral.com]
    • Symptoms such as exertional dyspnoea, fatigue, palpitations and syncope can occur and increasing age carries an increasing risk of stroke.[nice.org.uk]
    • Symptoms are typically decreased exercise tolerance, easy fatigability, palpitations, and syncope.[en.wikipedia.org]
    • Most adult patients with a large defect present with symptoms including fatigue, exercise intolerance, palpitations, syncope, shortness of breath, peripheral oedema, thromboembolic manifestations, and cyanosis.[patient.info]
    Tetralogy of Fallot
    • Tetralogy of Fallot and atrioventricular septal defects always require surgery and sometimes more than one operation is necessary.[nuh.com.sg]
    • During this same time period, many more ASDs have been successfully closed as part of more complicated operations with similar success (see tetralogy of Fallot , AV canal and TGA for examples).[rchsd.org]
    • Atrioventricular conduction defects, ventricular septal defect, tetralogy of Fallot, and a variety of complex cyanotic congenital heart disease defects have occurred with ASD.[nationwidechildrens.org]
    • In adults the most common causes of cyanotic congenital heart disease are tertralogy of Fallot and Eisenmenger's syndrome. 1.Tetralogy of Fallot It is characterized by a large ventricular septal deftect (VSD), an aorta that overrides the left and right[rjmatthewsmd.com]
    Ventricular Septal Defect
    • Ventricular Septal Defect A ventricular septal defect (VSD) is a hole in the part of the septum that separates the ventricles (the lower chambers of the heart).[pediatricct.surgery.ucsf.edu]
    • These include patent ductus arteriosus, atrial septal defect, ventricular septal defect, tetralogy of Fallot and atrioventricular septal defects.[nuh.com.sg]
    • Atrial septal defects (ASD) are the second most common congenital heart defect after ventricular septal defects and the most common to become symptomatic in adulthood.[radiopaedia.org]
    • They also have a corresponding defect in the muscle wall between the two lower pumping ventricular chambers (called a ventricular septal defect or VSD).[cts.usc.edu]
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  • Etiology

    ASDs mostly occur due to genetic mutations. Along with a genetic predisposition, certain maternal environmental factors (for example alcohol, drugs or metabolic diseases) can be responsible for the defects.

    When problems occur in the development of the heart and its structures, it can result in ASDs. The different types of ASDs are formed due to incomplete fusion of certain parts of heart musculature as seen in the four type explained above.

    Epidemiology

    ASDs account for 10% of all congenital heart diseases. Incidence of ostium secundum ASDs is 75%, of ostium primum is 15-20% & of sinus venosus is 5-10%. Coronary ASDs are rare.

    The incidence of ASDs in females is twice as those in males.

    Sex distribution
    Age distribution

    Pathophysiology

    The extent of the left to right atrial shunting will depend on the size of the defect, the relative ventricular compliance, vascular resistance and accompanying congenital defects. When the ASD is small, the shunting is not significant.

    In cases of larger defects, the extent of the shunting is significant and can lead to volume overload of the right atria and right ventricle. This raises the filling pressure of the right side of the heart causing the right ventricle to pump out more blood as compared to the left ventricle.

    The overloading of the right side of the heart will cause an overload of the entire pulmonary circulation leading to pulmonary hypertension eventually. This will further force the right ventricle to generate higher pressures to overcome the pulmonary hypertension which may even lead to right ventricular failure.

    In cases where ASD is left untreated, the increased pressure on the right side of the heart causes reversal of the shunt i.e. right to left shunting (Eisenmenger syndrome). This will cause mixing of the oxygenated and non-oxygenated blood in the heart. Once in circulation, this inevitably leads to cyanosis.

    Prevention

    There are no guidelines for prevention of ASD.

    Summary

    Atrial septal defect (ASD) is a congenital defect in the septum between the two atria of the heart. ASD results in pulmonary venous return going directly to the right atrium from the left atrium [1] [2] [3]. The significance of the complications of ASD will depend on the size of the defect and shunt. The presence of any associated anomalies will lead to further complications.

    There are four types of ASD, depending on where these defects are found. The most common is Ostium Secundum defect which occurs in the middle of the atrial septum. It can be associated with partial anomalous pulmonary venous return. The second type of ASD is Ostium Primum defect which is a form of atrioventricular septal defect with shunting at atrial level. It can be associated with mitral regurgitation. The least common type of ASD is Sinus Venosus defect which occurs in the superior aspect of the atrial septum involving the superior vena cava. A variation of this involves the inferior vena cava. The rarest type of ASD is Coronary sinus defect. It involves direct communication of the coronary sinus and the left atrium.

    Patient Information

    Atrial septal defect (ASD) is a heart defect present since birth in which there is a hole in the wall that separates the upper heart chambers (atria) from the ventricles/other atrium.

    The septal defects are located in different parts of the atrial septum and they can be of different sizes. A "shunt" is the presence of a net flow of blood through the defect, either from left to right or right to left.

    The size of the defect, size of the shunt, and associated anomalies, can lead to a range of diseases from no significant cardiac complication to right-sided volume overload, pulmonary arterial hypertension or even atrial arrhythmias.

    ASDs are usually asymptomatic in infancy and childhood. In most cases the symptoms appear by the third decade of life. Most cases of ASD, even moderate to large ASDs do not manifest symptoms during childhood. Hence, ASDs go undetected in childhood due to lack of symptoms.

    Cardiac murmurs can be detected on auscultation in some cases which may be a clue that a child has an ASD. Common symptoms include dyspnoea, easy fatigue, palpitations, exercise intolerance and recurrent respiratory infections. The significance of the complications will depend on the size of the defect and shunt. The presence of any associated anomalies will lead to further complications.

    ASDs once diagnosed can be treated successfully with few or no complications. Transthoracic echocardiography and transesophageal echocardiography are common non-invasive imaging techniques used to diagnose ASDs. Cardiac catheterization is the invasive technique used.

    Small ASDs may close naturally after birth. If the ASD is left untreated it may lead to arrhythmias, pulmonary arterial hypertension, reversal of shunting and heart failure. Larger defects are treated through surgery. Medical therapy can be used to treat the symptoms of ASD, but surgical intervention is a must for the closure of the defect. 

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    References

    1. Braunwald E. Atrial septal defect. In: Braunwald E, ed. Heart Disease: A Text of Cardiovascular Medicine. 1992. 4th ed. Philadelphia, Pa: WB Saunders; 1992:906-8
    2. Goldman L, Braunwald E. Primary Cardiology. Philadelphia, Pa: WB Saunders; 1998:394-411. 
    3. Child J, Friedman W. Harrison’s Principles of Internal Medicine. 16th ed. McGraw Hill. Chapter 218. Congenital Heart Disease in the adult.
    4. Fisher MR, Forfia PR et al. Accuracy of Doppler Echocardiography in the Hemodynamic assessment of Pulmonary Hypertension. Am J Respir Crit Care Med. 2009 April 1; 179(7): 615–621.
    5. Constantinescu T, Magda SL, et al. New Echocardiographic Tehniques in Pulmonary Arterial Hypertension vs. Right Heart Catheterization – A Pilot Study. Maedica (Buchar). 2013 June; 8(2): 116–123.
    6. Davidson CJ, Bonow RO. In: Bonow RO, Mann DL, Zipes DP, Libby P, eds. Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine. 9th ed. Saunders; Philadelphia: 2011. Chapter 20. Cardiac catheterization.
    7. Jost CH, Connolly HM, Danielson GK, et al. Sinus venosus atrial septal defect: long-term postoperative outcome for 115 patients. Circulation. Sep 27 2005; 112(13):1953-8.
    8. Ammar RI, Hegazy RA. Transcatheter closure of secundum ASD using Occlutech Figulla-N device in symptomatic children younger than 2 years of age. J Invasive Cardiol. 2013 Feb; 25(2):76-9.
    9. Feltes TF, Bacha E, Beekman RH 3rd, et al. Indications for cardiac catheterization and intervention in pediatric cardiac disease: a scientific statement from the American Heart Association. American Heart Association Congenital Cardiac Defects Committee of the Council on Cardiovascular Disease in the Young; Council on Clinical Cardiology; Council on Cardiovascular Radiology and Intervention. Circulation. 2011; 123(22):2607-2652.
    10. Lakhdhar R, Drissa M Drisa H. Natural history of atrial septal defect in the sixth decade: study of 5 cases. Tunis Med. 2013 Apr; 91(4):243-7.

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