History

Patients with atrial septal defects (ASDs) may be recognized during infancy; however, ASDs are often not diagnosed until later in childhood because of lack of symptoms and subtlety of physical signs. Most patients undergo their initial evaluation because a cardiac murmur is detected. On the contrary, frequent use of echocardiography has resulted in identification of some of these ASDs.

Small and even moderate-to-large coronary sinus ASDs usually result in no clinically significant symptoms in childhood. However, on occasion, even infants develop clinically important symptoms of congestive heart failure, generally in conjunction with additional contributing factors.
Failure to thrive because of an ASD alone rarely, if ever, occurs.
Mild exercise intolerance, frequent respiratory infections, or reactive airway disease may be observed in some patients.
Patients with other associated complex congenital cardiac abnormalities generally present earlier because of their other hemodynamically significant associated defects.
In a surgical series of 25 patients with partial coronary sinus fenestrations, 7 had signs or symptoms at least partially attributable to these defects, including cerebral abscess, transient ischemic attacks, and cyanosis.^[2]

Physical Examination

Relatively normal precordial impulse may be present with small defects. A precordial bulge, main pulmonary artery impulse, or hyperdynamic right ventricular impulse (heave) occurs with large shunts, especially in thin patients. A right ventricular tap or particularly prominent main pulmonary artery impulse in the second left intercostal space suggests pulmonary hypertension. Cyanosis may occur with pulmonary vascular obstructive disease.

The first heart sound is normal or split with an accentuated pulmonary component. The loud second component is caused by a larger-than-normal excursion of tricuspid valve leaflets during contraction of the volume-loaded right ventricle. The second heart sound is characteristically widely split and fixed in regard to respiration (except in small left-to-right shunts), with the aortic and pulmonic components widely and constantly separated. This separation changes little with inspiration or with Valsalva maneuver. Narrow splitting and increased intensity of the pulmonic component of S2 suggests the onset of elevated pulmonary vascular resistance.

Normal splitting of the second heart sound is due to an inspiratory increase in the interval between the descending limbs of the pulmonary arterial and right ventricular pressure curves reflecting increased pulmonary vascular bed capacitance. In the patient with ASD, the overall pulmonary vascular bed capacitance is already increased, with no additional increase during inspiration. Furthermore, the inspiratory increase in systemic venous return approximately compensates for the diminution of left-to-right shunting. The net result is that little respiratory variation occurs in right and left ventricular filling.

A pulmonary ejection systolic murmur is noted in moderate-to-large shunts. The presence of a thrill is unusual in ASDs and may suggest pulmonary valve stenosis. A mid diastolic low-frequency tricuspid valve inflow murmur may be heard with Qp/Qs ratios of greater than approximately 2 to 1, and a low-pitched pulmonary regurgitation murmur may be present. A higher-pitched pulmonary regurgitation murmur suggests pulmonary hypertension.

Differential Diagnoses

Martin SS, Shapiro EP, Mukherjee M. Atrial septal defects - clinical manifestations, echo assessment, and intervention. Clin Med Insights Cardiol. 2014. 8 (Suppl 1):93-8. [QxMD MEDLINE Link]. [Full Text].
Attenhofer Jost CH, Connolly HM, Danielson GK, Dearani JA, Warnes CA, Jamil Tajik A. Clinical features and surgical outcome in 25 patients with fenestrations of the coronary sinus. Cardiol Young. 2007 Dec. 17(6):592-600. [QxMD MEDLINE Link].
McMahon CJ, Feltes TF, Fraley JK, et al. Natural history of growth of secundum atrial septal defects and implications for transcatheter closure. Heart. 2002 Mar. 87(3):256-9. [QxMD MEDLINE Link]. [Full Text].
Huang XS. Images in cardiovascular medicine. Partially unroofed coronary sinus. Circulation. 2007 Oct 9. 116(15):e373. [QxMD MEDLINE Link].
Roberson DA, Cui W, Patel D, et al. Three-dimensional transesophageal echocardiography of atrial septal defect: a qualitative and quantitative anatomic study. J Am Soc Echocardiogr. 2011 Jun. 24(6):600-10. [QxMD MEDLINE Link].
Singh A, Nanda NC, Romp RL, Kirklin JK. Assessment of surgically unroofed coronary sinus by live/real time three-dimensional transthoracic echocardiography. Echocardiography. 2007 Jan. 24(1):74-6. [QxMD MEDLINE Link].
Wang JK, Chen SJ, Hsu JY, et al. Midterm follow-up results of transcatheter treatment in patients with unroofed coronary sinus. Catheter Cardiovasc Interv. 2014 Feb. 83 (2):243-9. [QxMD MEDLINE Link].
Kijima Y, Taniguchi M, Akagi T. Catheter closure of coronary sinus atrial septal defect using Amplatzer Septal Occluder. Cardiol Young. 2011 Jul 26. 1-4. [QxMD MEDLINE Link].
Di Bernardo S, Fasnacht M, Berger F. Transcatheter closure of a coronary sinus defect with an Amplatzer septal occluder. Catheter Cardiovasc Interv. 2003 Oct. 60 (2):287-90. [QxMD MEDLINE Link].
Stiles S. FDA issues Amplatzer ASO occluder safety alert over erosions. Medscape. Available at http://www.medscape.com/viewarticle/812813. Oct 18, 2013; Accessed: Oct 28, 2013.
FDA. St. Jude Amplatzer atrial septal occluder (ASO): safety communication - reports of tissue erosion. US Food and Drug Administration. Available at http://www.fda.gov/Safety/MedWatch/SafetyInformation/SafetyAlertsforHumanMedicalProducts/ucm371202.htm. Oct 17, 2013; Accessed: Oct 28, 2013.
FDA. Rare serious erosion events associated with St. Jude Amplatzer atrial septal occluder (ASO). US Food and Drug Administration. Available at http://www.fda.gov/MedicalDevices/Safety/AlertsandNotices/ucm371145.htm. Accessed: Oct 28, 2013.
Rao PS, Harris AD. Recent advances in managing septal defects: atrial septal defects. F1000Res. 2017. 6:2042. [QxMD MEDLINE Link]. [Full Text].
Quaegebeur J, Kirklin JW, Pacifico AD, Bargeron LM Jr. Surgical experience with unroofed coronary sinus. Ann Thorac Surg. 1979 May. 27(5):418-25. [QxMD MEDLINE Link].
Andersen M, Moller I, Lyngborg K, Wennevold A. The natural history of small atrial septal defects; long-term follow-up with serial heart catheterizations. Am Heart J. 1976 Sep. 92(3):302-7. [QxMD MEDLINE Link].
Bierman FZ, Williams RG. Subxiphoid two-dimensional imaging of the interatrial septum in infants and neonates with congenital heart disease. Circulation. 1979 Jul. 60(1):80-90. [QxMD MEDLINE Link].
Cockerham JT, Martin TC, Gutierrez FR, et al. Spontaneous closure of secundum atrial septal defect in infants and young children. Am J Cardiol. 1983 Dec 1. 52(10):1267-71. [QxMD MEDLINE Link].
Foster ED, Baeza OR, Farina MF, Shaher RM. Atrial septal defect associated with drainage of left superior vena cava to left atrium and absence of the coronary sinus. J Thorac Cardiovasc Surg. 1978 Nov. 76(5):718-20. [QxMD MEDLINE Link].
Franz C, Mennicken U, Dalichau H, Hirsch H. Abnormal communication between the left atrium and the coronary sinus. Presentation of 2 cases and review of the literature. Thorac Cardiovasc Surg. 1985 Apr. 33(2):113-7. [QxMD MEDLINE Link].
Freedom RM, Culham JA, Rowe RD. Left atrial to coronary sinus fenestration (partially unroofed coronary sinus). Morphological and angiocardiographic observations. Br Heart J. 1981 Jul. 46(1):63-8. [QxMD MEDLINE Link].
Garson A, Neish S. Anomalies of systemic venous return. Bricker T, Fisher D, eds. The Science and Practice of Pediatric Cardiology. 2nd ed. Baltimore, MD: Williams and Wilkins; 1998. 1667-75.
Garson A, Neish S. Defects of the atrial septum including atrioventricular septal defects. Bricker T, Fisher D, eds. The Science and Practice of Pediatric Cardiology. 2nd ed. Baltimore, MD: Williams and Wilkins; 1998. 1141-79.
Garson, A, Neish S. Cardiac malposition and heterotaxy. Bricker T, Fisher D, eds. The Science and Practice of Pediatric Cardiology. 2nd ed. Baltimore, MD: Williams and Wilkins; 1997. 1539-61.
Graham TP Jr, Bricker JT, James FW, Strong WB. 26th Bethesda conference: recommendations for determining eligibility for competition in athletes with cardiovascular abnormalities. Task Force 1: congenital heart disease. J Am Coll Cardiol. 1994 Oct. 24(4):867-73. [QxMD MEDLINE Link].
Lee ME, Sade RM. Coronary sinus septal defect. Surgical considerations. J Thorac Cardiovasc Surg. 1979 Oct. 78(4):563-9. [QxMD MEDLINE Link].
Mantini E, Grondin CM, Lillehie CW. Congenital anomalies involving the coronary sinus. Circulation. 1966. 33:317.
Munoz-Castellanos L, Espinola-Zavaleta N, Kuri-Nivon M, et al. Atrial septal defect: anatomoechocardiographic correlation. J Am Soc Echocardiogr. 2006 Sep. 19(9):1182-9. [QxMD MEDLINE Link].
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 13. 323(24):1645-50. [QxMD MEDLINE Link].
Perloff JK. Pregnancy and congenital heart disease. J Am Coll Cardiol. 1991 Aug. 18(2):340-2. [QxMD MEDLINE Link].
Raghib G, Ruttenberg HD, Anderson RC, et al. Termination of left superior vena cava in left atrium, atrial septal defect, and absence of coronary sinus; a developmental complex. Circulation. 1965 Jun. 31:906-18. [QxMD MEDLINE Link].
Sealy WC, Farmer JC, Young WG Jr, Brown IW Jr. Atrial dysrhythmia and atrial secundum defects. J Thorac Cardiovasc Surg. 1969 Feb. 57(2):245-50. [QxMD MEDLINE Link].
Steele PM, Fuster V, Cohen M, et al. Isolated atrial septal defect with pulmonary vascular obstructive disease--long-term follow-up and prediction of outcome after surgical correction. Circulation. 1987 Nov. 76(5):1037-42. [QxMD MEDLINE Link].
Troost E, Gewillig M, Budts W. Percutaneous closure of a persistent left superior vena cava connected to the left atrium. Int J Cardiol. 2006 Jan 26. 106(3):365-6. [QxMD MEDLINE Link].
Muthialu N, Fajardo D, Sullivan ID, Tsang V. Repair of persistent left superior vena cava to unroofed coronary sinus defect by retro-aortic implantation (modified Warden type procedure). J Card Surg. 2016 Feb. 31(2):103-5. [QxMD MEDLINE Link].
Kawamukai M, Muranaka A, Yuda S, et al. Utility of three-dimensional transesophageal echocardiography for diagnosis of unroofed coronary sinus. J Med Ultrason (2001). 2016 Jan. 43(1):91-4. [QxMD MEDLINE Link].
Kim HR, Yoo SM, Lee HY, et al. A case of complete unroofed coronary sinus syndrome combined with coronary sinus stenosis leading to asymptomatic presentation. Iran J Radiol. 2015 Jul. 12(3):e16063. [QxMD MEDLINE Link].
Mallula KK, Patel ND, Abdulla RI, Bokowski JW. Tetralogy of Fallot with left superior vena cava and coronary sinus atrial septal defect: a rare association. Pediatr Cardiol. 2015 Jun. 36(5):1100-1. [QxMD MEDLINE Link].
Mahmoud H, Nicolescu AM, Filip C, et al. Complex atrial septal defect closure in children. Rom J Morphol Embryol. 2019. 60(1):49-57. [QxMD MEDLINE Link]. [Full Text].