Atrial septal defect (ASD) is a type of heart defect which allows communication between the left and right side of the heart. These interatrial communications can result from defects in the interatrial septum but also from defects in the atrial connections of the systemic or pulmonary veins (sinus venosus or coronary sinus defects).
Patent foramen ovale is a normal communication in fetal life and is commonly seen after birth. It needs to be differentiated from ASDs.
- ASDs are the third most common congenital heart disease and occur as an isolated anomaly in 5% to 10% of all congenital heart defects. About 30% to 50% of children with congenital heart defects have an ASD as part of their cardiac defect. With improved detection of silent defects by echocardiography the incidence seems to be increasing.
- The incidence is higher in females and with the common ostium secundum defects the female to male ratio is 2:1.
- Most ASDs are sporadic with no defined cause. However, familiar clusters of secundum ASDs have been reported with various forms of inheritance, most commonly autosomal dominant.
- The risk of a secundum ASD is increased in families with a history of congenital heart disease, especially when an ASD is present in a sibling.
- Secundum ASDs are common in many syndromes including Holt-Oram syndrome, Noonan's syndrome and Ellis-van Creveld syndrome. Both secundum and primum ASDs are common in Down's syndrome.
- Fetal alcohol syndrome, maternal smoking in the first trimester and maternal diabetes can all be associated with ASDs.
- Development of the atrial septum is a complex process and forms the basis of classification of interatrial communications. Atrial septation involves septum primum, septum secundum and atrioventricular canal septum. Normal development of the atrial septum results in formation of fossa ovalis, an oval shaped depression between the septum secundum and septum primum. Other parts of the septum include sinus venosus septum and coronary sinus septum.
- The following types of interatrial communications are described:
- Patent foramen ovale - this is a normal communication in fetal life and is the space between an appropriately developed septum primum and normal septum secundum.
- Secundum ASD - this is the most common type of ASD accounting for 50% to 70% of all ASDs. The secundum ASD is a defect within the fossa ovalis resulting from single or multiple defects in the septum primum.
- Primum ASD - this is one of the variants of atrioventricular septal defects (AVSDs) and is also known as partial AVSD as it is associated with the presence of a common atrioventricular orifice. The defect in the atrial septum lies between the inferior margin of fossa ovalis and atrioventricular valves. Isolated primum ASD occurs in 15% of all ASDs.
- Sinus venosus defect - the tissue that separates the right pulmonary veins from the superior vena cava and adjacent free atrial wall is called sinus venosus and a defect in this area results in a sinus venosus defect. This accounts for about 10% of all ASDs.
- Coronary sinus defect - this results from partial or complete unroofing of the tissue separating coronary sinus from the left atrium, allowing a shunt through the defect and coronary sinus orifice.
- Infants and children with ASDs are usually asymptomatic.
- Rarely, infants may present with tachypnoea, poor weight gain and recurrent chest infections. In all such cases a thorough search should be done for non-cardiac conditions and pulmonary hypertension.
- Subtle symptoms of shortness of breath with exercise or palpitations may occur in some patients in the second decade of life.
- 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.
- Arrhythmias are uncommon in children but increasingly common after 40 years of age. The most common arrhythmias are atrial flutter and atrial fibrillation.
- 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.
- Pulmonary vascular obstructive disease with or without reversal of atrial shunt (Eisenmenger's syndrome) develops in 5% to 10% of adults with untreated ASDs.
- Most infants and children with an ASD appear well and pink.
- Characteristic auscultatory findings are described as:
- Widely split second heart sound without respiratory variation.
- Soft systolic ejection murmur (Grade 2 to 3) in the pulmonary area at the upper left sternal border.
- A diastolic rumble over the left lower sternum because of increased flow through the tricuspid valve in those with a large shunt.
- Classic auscultatory findings as described above are not present unless the shunt is reasonably large. The findings may be absent in many infants and children, even in those with a large defect, if the right ventricle is poorly compliant. Classic auscultatory findings are much more likely to be present in adults with large shunts.
- Signs of right heart failure are rare but may be seen in adults with pulmonary hypertension.
- 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.
- Left axis deviation with a superior axis suggests a primum defect.
- Right ventricle hypertrophy is seen in patients with pulmonary hypertension.
- In adults, atrial flutter or atrial fibrillation may be present.
- CXR is normal in infants and children with small shunts.
- In patients with haemodynamically significant ASDs cardiomegaly with enlargement of right atrium and right ventricle may be present.
- A prominent pulmonary artery segment and increased pulmonary vascular markings are seen in those with a significant shunt.
- Transthoracic echocardiography is usually diagnostic and is able to show the position, size, and haemodynamic characteristics of the defect. Two-dimensional imaging shows the location and size of the ASD while the Doppler (colour and pulse) provides direction of flow and flow velocity. Measurement of right atrial, right ventricular and pulmonary artery size helps in assessing the haemodynamic impact.
- Three-dimensional echocardiography can provide additional information about the defect's shape and change in size during the cardiac cycle.
- In older children and adults, especially those who are overweight, adequate visualisation of the atrial septum may not be possible with transthoracic echocardiography. In such cases, transoesophageal echocardiography (TOE) is very useful.
- 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.
MRI and CT
- Cardiac MRI can be used to accurately define the anatomy of ASDs and quantitatively assess their haemodynamic impact. Although it is rarely needed for isolated secundum or primum ASDs, cardiac MRI is a very useful diagnostic tool for sinus venosus ASD which can be difficult to evaluate with echocardiography.
- High-resolution contrast CT can provide excellent anatomical information but is rarely used because of associated radiation risk.
- Catheterisation is rarely used as a diagnostic tool for ASDs and is usually done to carry out interventional closure of the defect.
- Diagnostic catheterisation is indicated in patients with pulmonary hypertension and in adults at risk of coronary artery disease.
- Diagnosis of ASD is often delayed as the murmur can be quite soft and easily mistaken for an Innocent murmur.
- Pulmonary stenosis murmur is quite similar.
- In children with ASDs, exercise restriction is not needed.
- Infective endocarditis prophylaxis is not indicated unless there is associated mitral valve prolapse or other associated defects. Patients with isolated ASD are not considered at risk of developing infective endocarditis.
- Treatment with diuretics may be needed in the small number of children who develop heart failure.
- A haemodynamically significant ASD should be closed electively on confirmation of diagnosis. Although this is possible even in small infants, current UK practice is to close the defects at about 4-5 years of age.
- Adults with late diagnosis and unrepaired defects may need treatment for heart failure and atrial flutter or atrial fibrillation.
- ASDs which can only be closed by surgical means include sinus venosus, coronary sinus and primum septal defects. Secundum ASDs can be closed either by surgical means or by transcatheter device. In small infants and in the case of very large defects device closure may not be possible.
- Surgical closure is done under direct vision using cardiopulmonary bypass, either by direct suture or by using a pericardial or synthetic patch. Various surgical approaches are possible, including use of a midline sternal incision and lateral thoracotomy.
- Video-assisted thoracoscopic procedures are feasible and permit surgery via a much smaller incision, with better cosmetic results.
- Surgical outcome for isolated ASDs is excellent with mortality approaching zero. Long-term outcome for those operated at less than 12 years of age are excellent with a survival curve similar to that of healthy individuals. Long-term outcome worsens with increasing age at the time of operation with survival lower than that of healthy indviduals, especially if the age at operation is over 25 years.
- Since the first transcatheter closure of ASD in 1976 there has been significant advancement in this area with the development of several new devices and delivery systems. In many centres transcatheter closure has replaced surgery as the preferred method.
- Not all ASDs can be closed via this method and relative contra-indications include:
- Defects with a maximum diameter of more than 40 mm.
- Defects with inadequate margins to support the device.
- Interference of the device with atrioventricular valve function or pulmonary or systemic venous drainage.
- Recent data confirm that device closure of secundum ASDs is safe and effective in children, with technical success in 96% and occlusion rate of 99.6% at 24 hours.Very similar good outcomes have been noted in adults undergoing transcatheter closure of ASDs. The National Institute for Health and Care Excellence (NICE) has issued detailed guidance and supports the use of this procedure.
- Complication rates are low and estimated to be about 1.1% for major complications (device embolisation requiring surgery or pericardial tamponade) and 4.8% for minor complications (atrial arrhythmias, vascular complications and transient heart block).
- 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.
- Studies comparing transcatheter and surgical closure in terms of outcome, efficacy, complications and costs have shown that both methods are at par.
This is not required in isolated ASDs.
- Isolated atrial septal defects repaired in childhood have excellent prognosis with survival similar to that of the general population.
- Isolated ASDs, if not diagnosed until late adulthood, result in increasing symptoms of fatigue, shortness of breath, palpitations and manifestations of heart failure with reduction in survival. The shunt worsens in adults with decreased left ventricular compliance because of coronary heart disease or hypertension. Atrial flutter and atrial fibrillation are also common.
- Repair of ASDs improves prognosis, even when it is done after the age of 40 years, with reduction in morbidity and mortality. There is general improvement in symptoms and exercise capacity. However, the risk of atrial flutter and atrial fibrillation remains high.
- In women with isolated ASDs (repaired and unrepaired), pregnancy is not associated with signficant increase in maternal complications. There is a low risk of arrhythmias and transient ischaemic attacks. In women with unrepaired defects, the risk of pre-eclampsia, fetal loss and low birth weight is higher than that of the general population.
- Maternal mortality is remarkably high in women with an ASD and severe pulmonary hypertension. Pregnancy should be avoided in such individuals.
Further reading and references
Hoffman JI, Kaplan S; The incidence of congenital heart disease. J Am Coll Cardiol. 2002 Jun 1939(12):1890-900.
Caputo S, Capozzi G, Russo MG, et al; Familial recurrence of congenital heart disease in patients with ostium secundum atrial septal defect. Eur Heart J. 2005 Oct26(20):2179-84. Epub 2005 Jun 24.
Dennis J, Archer N, Ellis J, et al; Recognising heart disease in children with Down syndrome. Arch Dis Child Educ Pract Ed. 2010 Aug95(4):98-104. doi: 10.1136/adc.2007.126672.
Briggs LE, Kakarla J, Wessels A; The pathogenesis of atrial and atrioventricular septal defects with special emphasis on the role of the dorsal mesenchymal protrusion. Differentiation. 2012 Jul84(1):117-30. doi: 10.1016/j.diff.2012.05.006. Epub 2012 Jun 17.
Goetschmann S, Dibernardo S, Steinmann H, et al; Frequency of severe pulmonary hypertension complicating "isolated" atrial septal defect in infancy. Am J Cardiol. 2008 Aug 1102(3):340-2. doi: 10.1016/j.amjcard.2008.03.061. Epub 2008 May 2.
Sachweh JS, Daebritz SH, Hermanns B, et al; Hypertensive pulmonary vascular disease in adults with secundum or sinus venosus atrial septal defect. Ann Thorac Surg. 2006 Jan81(1):207-13.
Park MK; Pediatric Cardiology for Practitioners, 5th Edition, Mosby Elsevier. 2008.
Soliman OI, Geleijnse ML, Meijboom FJ, et al; The use of contrast echocardiography for the detection of cardiac shunts. Eur J Echocardiogr. 2007 Jun8(3):S2-12. Epub 2007 Apr 25.
Prompona M, Muehling O, Naebauer M, et al; MRI for detection of anomalous pulmonary venous drainage in patients with sinus venosus atrial septal defects. Int J Cardiovasc Imaging. 2011 Mar27(3):403-12. doi: 10.1007/s10554-010-9675-3. Epub 2010 Aug 5.
Johri AM, Rojas CA, El-Sherief A, et al; Imaging of atrial septal defects: echocardiography and CT correlation. Heart. 2011 Sep97(17):1441-53. doi: 10.1136/hrt.2010.205732.
Suematsu Y, Kiaii B, Bainbridge DT, et al; Robotic-assisted closure of atrial septal defect under real-time three-dimensional echo guide: in vitro study. Eur J Cardiothorac Surg. 2007 Oct32(4):573-6. Epub 2007 Aug 15.
Murphy JG, Gersh BJ, McGoon MD, et al; Long-term outcome after surgical repair of isolated atrial septal defect. Follow-up at 27 to 32 years. N Engl J Med. 1990 Dec 13323(24):1645-50.
Marie Valente A, Rhodes JF; Current indications and contraindications for transcatheter atrial septal defect and patent foramen ovale device closure. Am Heart J. 2007 Apr153(4 Suppl):81-4.
Everett AD, Jennings J, Sibinga E, et al; Community use of the amplatzer atrial septal defect occluder: results of the multicenter MAGIC atrial septal defect study. Pediatr Cardiol. 2009 Apr30(3):240-7. doi: 10.1007/s00246-008-9325-x. Epub 2008 Nov 18.
Endovascular closure of atrial septal defect; NICE Interventional Procedures Guidance, October 2004
Kutty S, Hazeem AA, Brown K, et al; Long-term (5- to 20-year) outcomes after transcatheter or surgical treatment of hemodynamically significant isolated secundum atrial septal defect. Am J Cardiol. 2012 May 1109(9):1348-52. doi: 10.1016/j.amjcard.2011.12.031. Epub 2012 Feb 13.
Lindsey JB, Hillis LD; Clinical update: atrial septal defect in adults. Lancet. 2007 Apr 14369(9569):1244-6.
Drenthen W, Pieper PG, Roos-Hesselink JW, et al; Outcome of pregnancy in women with congenital heart disease: a literature review. J Am Coll Cardiol. 2007 Jun 1949(24):2303-11. Epub 2007 Jun 4.
Bowater SE, Thorne SA; Management of pregnancy in women with acquired and congenital heart disease. Postgrad Med J. 2010 Feb86(1012):100-5.