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).

• Fatigue

  We present the case of a 44-year-old methamphetamine abuser who had a 3-month history of worsening fatigue and near-syncope. She had elevated cardiac enzyme levels and right-sided heart strain. [ncbi.nlm.nih.gov]

  By age 50, an ASD can cause symptoms like shortness of breath, fainting, irregular heart rhythms or fatigue after mild activity or exercise. [my.clevelandclinic.org]

  The larger the ASD, the higher the likelihood of symptoms such as fatigue and shortness of breath. Types Atrial septal defects fall into three categories. Within each type of defect, the severity may vary. [verywellhealth.com]

• Weight Loss

  Also call the doctor if your child has any of these symptoms: a bluish color around the mouth or on the lips and tongue poor appetite or difficulty feeding failure to gain weight or weight loss listlessness or decreased activity level a lasting or unexplained [kidshealth.org]

  Ask him or her to help you create a weight loss plan if you are overweight. Do not smoke. Nicotine and other chemicals in cigarettes and cigars can cause lung and heart damage. [drugs.com]

  You may also notice problems like: Joint or muscle pain You're not hungry Nausea, vomiting, or belly pain Weight loss Acne and skin rashes Your pee is dark or extra yellow Your bowel movements look light Diarrhea If you're a woman, your periods stop Sometimes [webmd.com]

• Falling

  A marked fall in arterial oxygen saturation was observed on sitting or standing. Transesophageal echocardiography showed an increase of right to left shunt flow on sitting. [ncbi.nlm.nih.gov]

  : Ein Beitrag zur Frage der Herzmissbildungen an Hand eines Falles von kongenitaler Defektbildung im häutigen Ventrikelseptum und von gleichzeitigem Defekt in dem diesem Septumdefekt anliegenden Klappenzipfel der Valvula tricuspidalis. Arch. path. [journals.sagepub.com]

  Types Atrial septal defects fall into three categories. Within each type of defect, the severity may vary. It may be small or large and may require surgery or close without surgical intervention. [verywellhealth.com]

  In the presence of an ASD, some of the blood that arrives in the left atrium falls through the ASD back into the right atrium and from there it is pumped again to the lungs from the right sided pumping chamber. [childheartspecialist.com]

  Ein Beitrag zur Frage der Herzmissbildungen an Hand eines Falles von kongenitaler Defektbildung im häutigen Ventrikelseptum und von gleichzeitigem Defekt in dem diesem Septumdefekt anliegenden Klappenzipfel der Valvula tricuspidalis. [amjmed.com]

• Pulmonary Valve Stenosis

  It is reported to be associated with cardiovascular disorders including atrial septal defect, anomalous pulmonary venous return, aortopulmonary window, pulmonary valve stenosis, mitral valve prolapse, tetralogy of Fallot, truncus arteriosus, and patent [ncbi.nlm.nih.gov]

  valves stenosis insufficiency absence tricuspid valves stenosis atresia Ebstein's anomaly Hypoplastic right heart syndrome Uhl anomaly Left aortic valves stenosis insufficiency bicuspid mitral valves stenosis regurgitation Hypoplastic left heart syndrome [en.wikipedia.org]

  Typically, pulmonary valve stenosis has an associated systolic ejection click, the murmur of pulmonary valve stenosis tends to be more harsh than the systolic murmur associated with an ASD, and diastole is quiet. [clinicaladvisor.com]

  This is a defect in another heart valve, the tricuspid valve, which may keep it from closing tightly. Babies who have Ebstein’s also often have an atrial septal defect (ASD). Pulmonary valve stenosis. [webmd.com]

  […] and tricuspid valves Q22.0 Pulmonary valve atresia Q22.1 Congenital pulmonary valve stenosis Q22.2 Congenital pulmonary valve insufficiency Q22.3 Other congenital malformations of pulmonary valve Reimbursement claims with a date of service on or after [icd10data.com]

• Trisomy 21

  Martin, Trisomy-21 gene dosage over-expression of miRNAs results in the haploinsufficiency of specific target proteins, RNA Biology, 7, 5, (540), (2010). Nancy J. [doi.org]

  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]

  AVSDs are often associated with genetic syndromes such as trisomy 21 or Down syndrome; Holt-Oram syndrome, which results from mutations in the TBX5 gene; and heterotaxy syndromes, which result from mutations in genes such as PITX2, SHH, and NODAL. [emedicine.medscape.com]

  Introduction Down Syndrome (DS) is characterized by a complete trisomy of chromosome 21 in 95% of cases, occurring in approximately one in every 700 live births ( 1, 2 ). [ncbi.nlm.nih.gov]

• Pneumonia

  Symptoms Symptoms of atrial septal defects include: Shortness of breath Fatigue Heart murmur Heart palpitations Lung infections such as pneumonia and bronchitis Swelling of the abdomen or lower extremities Bluish skin color Stroke Why choose Ohio State [wexnermedical.osu.edu]

  If symptoms are present, they can include: Tiring easily during exercise Difficult and rapid breathing Frequent pneumonias Slow growth Migraine headaches in older children Stroke from blood clot Arrhythmias or abnormal heartbeats increasing with age if [saintlukeskc.org]

  […] cause symptoms soon after birth, such as: Feeling tired quickly when playing Breathing fast Having to work hard to breathe (shortness of breath) Having abnormal heartbeats Feeding problems Poor weight gain Frequent lung (respiratory) infections such as pneumonia [seattlechildrens.org]

• 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]

• Failure to Thrive

  Occasionally a patient will exhibit poor weight gain and a failure to thrive, and if there is mitral valve leakage there may be early symptoms of breathlessness. [dhg.org.uk]

  It becomes symptomatic in infancy due to congestive heart failure and failure to thrive. Diagnostic methods Diagnosis of CAVC might be suspected from electrocardiographic and chest X-ray findings. [orpha.net]

  Affected infants show failure to thrive and secondary coagulopathy. [malacards.org]

  Coronary sinus septal defect (4) Typical Presenting symptoms- Asymptomatic CHF in infancy and failure to thrive Exercise intolerance and shortness of breath, usually in the second decade of life Atrial arrhythmias Stroke secondary to paradoxical emboli [pedclerk.bsd.uchicago.edu]

• Loss of Appetite

  […] of appetite nausea vomiting joint pain abdominal discomfort AIH can be easily confused with other illnesses. [healthline.com]

• Hypertension

  After the age of about 30 years old there may be an increase in vascular resistance which can give rise to pulmonary hypertension. Atrial fibrillation may then be seen. [gpnotebook.co.uk]

  Methamphetamine abuse is an increasingly prevalent cause of pulmonary artery hypertension in the United States. Conversely, an atrial septal defect rarely presents late as pulmonary artery hypertension. [ncbi.nlm.nih.gov]

• Heart Disease

  Congenital heart disease in the adult and pediatric patient. In: Zipes DP, Libby P, Bonow RO, Mann DL, Tomaselli GF, Braunwald E, eds. Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine. 11th ed. [mountsinai.org]

  The COACH program focuses on: Adults with congenital heart disease (CHD) Pulmonary hypertension Cardiovascular connective tissue disorders Pregnancy in women with heart disease Transition of adolescents with CHD into adult congenital heart disease (ACHD [wexnermedical.osu.edu]

• Heart Murmur

  When signs and symptoms do occur, heart murmur is the most common. A heart murmur is an extra or unusual sound heard during a heartbeat. Often, a heart murmur is the only sign of an ASD. [pediatricct.surgery.ucsf.edu]

  At the initial visit, he presented with recurrent lower respiratory infection, heart murmur, psychomotor retardation, inverted nipples, and cerebellar atrophy. [ncbi.nlm.nih.gov]

  The increased blood flow to the lungs creates a swishing sound, known as a heart murmur. This heart murmur, along with other specific heart sounds that can be detected by a cardiologist, can be clues that a child has an ASD. [rchsd.org]

• Mitral Valve Prolapse

  It is reported to be associated with cardiovascular disorders including atrial septal defect, anomalous pulmonary venous return, aortopulmonary window, pulmonary valve stenosis, mitral valve prolapse, tetralogy of Fallot, truncus arteriosus, and patent [ncbi.nlm.nih.gov]

  valve prolapse. 9 21 It has been suggested that the redundancy of the atrial septum and the mitral (and/or tricuspid) valve may be secondary to a similar inherent deficiency in the connective tissue. 8 In the present study, a mitral valve prolapse was [circ.ahajournals.org]

  The association with mitral valve prolapse is interesting, as it has been suggested that both abnormalities reflect redundancy of endocardial tissue. 12 Up to 28% of patients who suffer from migraines with an aura have an ASA. [appliedradiology.com]

• Systolic Murmur

  The history of the present illness included paroxysmal atrial flutter which was untreated, but she had not developed heart failure.At admission, auscultation of the chest revealed moist rales and systolic murmur but did not clearly show the presence of [ncbi.nlm.nih.gov]

  Murmurs • Pulmonary ejection systolic murmur – Increased pulmonary flow • Tricuspid murmur – is heard over left sternal edge louder on inspiration • Graham-Steell murmur – of pulmonary regurgitation if pulmonary hypertension 13. • Late systolic murmur [slideshare.net]

  There is further turbulent flow into the pulmonary artery causing the systolic murmur. [easyauscultation.com]

  Physical examination was unremarkable except for isolated, mild, cardiac systolic murmur. The standard 12-lead electrocardiogram displayed a sinus rhythm without abnormalities, even in P wave morphology. [em-consulte.com]

• Agitation

  Transcranial Doppler/agitated saline Studies have shown no significant differences in the therapy of patients with PFO and cryptogenic stroke between: - A. Heparin and aspirin - B. Heparin and warfarin - C. Warfarin and aspirin - D. [ncbi.nlm.nih.gov]

  An echocardiogram with an agitated saline bubble test is an ultrasound taken of the heart while saline bubbles are injected into the bloodstream. An MRI involves the use of radio and magnetic waves to take images of the heart. [healthline.com]

  When agitated saline was injected from the right antecubital vein the air-bubbles showed to-and-fro shunting across SVD with changing atrial pressures during the cardiac cycle (Video 1-see additional file 1 ). [cardiovascularultrasound.biomedcentral.com]

  Contrast echocardiography with injection of agitated saline through a peripheral venous line can assist in the diagnosis of ASD in patients with restricted acoustic windows. [ 8 ] MRI and CT Cardiac MRI can be used to accurately define the anatomy of [patient.info]

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].

• Left Axis Deviation

  In primum defects left axis deviation is seen in most patients with an axis of > -30 degrees and very few patients have right axis deviation. [en.wikipedia.org]

  When an ostium primum atrial defect is present, the ECG reveals left axis deviation. When an ostium secundum atrial septal defect is present, the ECG reveals right axis deviation. [healio.com]

  […] mitral or triscupid valves Right axis deviation of QRS (ostium secundum ASD) Left axis deviation of P wave (sinus venous defect) TREATMENT Treatment options are determined based on time of discovery and size and location of defect. [journals.lww.com]

  In sinus venosus ASD, it shows left axis deviation and a negative P wave in lead III. [symptoma.com]

• Right Bundle Branch Block

  The impact of incomplete right bundle branch block (IRBBB) and ASD diameter (≥ 5 and KEYWORDS: Crochetage on R wave; Inferior leads; Pediatric; Secundum atrial septal defect [ncbi.nlm.nih.gov]

  atrial fibrillation or right bundle branch block. [orpha.net]

  EMAIL PRINT SAVE EMAIL SAVE An atrial septal defect should show a right bundle branch block, or RBBB ― sometimes incomplete ― on ECG. This is partially due to the right ventricular volume and pressure overload that occurs. [healio.com]

  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. [symptoma.com]

• Incomplete Right Bundle Branch Block

  The impact of incomplete right bundle branch block (IRBBB) and ASD diameter (≥ 5 and KEYWORDS: Crochetage on R wave; Inferior leads; Pediatric; Secundum atrial septal defect [ncbi.nlm.nih.gov]

  When a person is suspected of having an ASD based on the findings of an incomplete right bundle branch block with a rSr' or rSR', the frontal plane QRS should be examined. [en.wikipedia.org]

  ECG incomplete right bundle branch block (RBBB morphology with QRS duration between 110-120 ms) increased specificity with crochetage sign in the inferior (II, III, aVF) leads right precordial (V1-3) "defective T waves" describes biphasic morphology, [radiopaedia.org]

  ECG Prolonged PR interval in patients with first-degree heart block Incomplete right bundle branch block Notched R wave in inferior leads Left axis deviation of QRS, most commonly seen in primum ASDs, which are communications present at the level of the [journals.lww.com]

• Left Anterior Fascicular Block

  The first degree AV block may occur in ASD irrelevant of the subtype, although it is most often present in ostium primum defects, accompanied by complete right bundle branch block and left anterior fascicular block, due to the ostium primum defect ‘s [lecturio.com]

• Third Degree Atrioventricular Block

  A new third degree atrioventricular block occurred in 1 patient who recovered 1 week later. During the follow-up period, we found no recurrence, no thrombosis, no device embolization, no device failure, and no cases of death. [ncbi.nlm.nih.gov]

• Biventricular Hypertrophy

  Biventricular cardiac hypertrophy and heart failure in the presence of a pre-existing atrial septal defect (ASD) are a rare association of primary aldosteronism. [ncbi.nlm.nih.gov]

  Typical electrocardiographic findings consist of peaked P waves, a prolonged P-R interval, rSR pattern in the right precordial leads and biventricular hypertrophy. [ajconline.org]

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].

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].

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.

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.

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.

There are no guidelines for prevention of ASD.

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.

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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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.
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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.