(Circulation. 1996;94:1049-1055.)
© 1996 American Heart Association, Inc.
Articles |
Diagnosis of Sinus Venosus Atrial Septal Defect With Transesophageal Echocardiography
the Division of Cardiovascular Diseases and Internal Medicine (R.D.P., J.K.O., C.A.W., A.J.T., J.B.S.) and the Section of Cardiovascular Surgery (G.K.D.), Mayo Clinic and Mayo Foundation, Rochester, Minn.
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Abstract |
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Background Sinus venosus atrial septal defect (SVD) is underdiagnosed with transthoracic echocardiography because of its posterior (far field) location. Transesophageal echocardiography (TEE) should be ideally suited to diagnose SVD, given the proximity of the transducer to the defect.
Methods and Results A retrospective study was undertaken that used the medical history, echocardiographic findings, and surgical data of patients identified from computer records as having the diagnosis of SVD during the period in which TEE has been in use (1987 to 1995). Twenty-five patients (14 females and 11 males; median age, 45 years; range, 10 to 75 years) with SVD had TEE between 1987 and 1995. Prior transthoracic echocardiography clearly defined the SVD in 3 of these patients, and it was suspected in another 11 on the basis of color-flow imaging. Ten patients had unexplained dilatation of the right side of the heart, which prompted TEE examination. SVD was visualized with TEE in all 25 patients and ranged in size from 1 to 3 cm. Thirty-seven right-sided anomalous pulmonary venous connections were identified in 23 patients. No left-sided anomalous pulmonary venous connections were detected. Anatomic confirmation was obtained in all 23 surgical patients. No patient required preoperative cardiac catheterization for diagnosis.
Conclusions TEE is accurate for the diagnosis of SVD and should be undertaken in any patient with unexplained dilatation of the right side of the heart. The associated pulmonary venous abnormalities can be identified with TEE. Cardiac catheterization for diagnostic purposes should not be required before surgical correction.
Key Words: heart septal defects • diagnosis • echocardiography • imaging • heart defects, congenital
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Introduction |
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Two-dimensional echocardiography is the diagnostic procedure of choice for atrial septal defects, particularly with the use of subcostal and modified longitudinal scans.1 2 3 4 The reported detection rates range from 89% to 99% for secundum-type defects and up to 100% for defects of the interatrial foramen primum.1 5 The diagnostic usefulness of transthoracic echocardiography for more uncommon causes of shunting at the atrial level is considerably less. In particular, diagnostic images of the sinus venosus atrial septal defect (SVD) usually are not obtainable in most adults.1
The pathological description of SVD was first published more than 100 years ago.6 7 Wagstaffe6 recognized the deficiency of the superior auricular septum adjacent to the orifice of the superior vena cava and the associated anomalous entry of the right pulmonary veins to the heart. Despite the early characterization of SVD, this uncommon condition is understood incompletely and is difficult to diagnose. The earliest hemodynamic and surgical reports did not appear until the 1950s.8 9 Few sizable clinical series have been reported.10 The anatomic classification, embryology, nomenclature, and incidence rates of SVD are still debated.11 12 13 14
The echocardiographic diagnosis of SVD was first reported in 1981,15 and the echocardiographic detection of SVD in small series of patients has been documented subsequently.4 16 17 The limitations of the transthoracic approach in adults are clear, with a sensitivity and specificity considerably less than those reported for secundum and primum defects.1 5 The excellent diagnostic yield in pediatric series in comparison with that in adult populations2 4 17 reflects improved visualization owing to better ultrasound windows and the relative proximity of the transducer to the defect.4 The proximity of the esophageal transducer to the atrial septum is ideally suited to overcome these limitations in adults. Since the original description from Hanrath et al18 of the use of transesophageal echocardiography (TEE) for secundum atrial septal defects, the accuracy of TEE for the diagnosis of all atrial septal defects has been appreciated.19 Subsequent to the first reported TEE diagnosis of SVD in English-language literature in 1988,20 reports of several small series have endorsed the usefulness of TEE for diagnosis and have highlighted the low yield of transthoracic echocardiography in adults.14 19 21 22
Widespread appreciation of the usefulness of TEE to diagnose SVD has been hampered by many factors. SVDs are uncommon, and physicians may not consider the diagnosis. Together with the difficulty in visualizing the defect with transthoracic echocardiography, this results in a low referral rate to TEE. The historical implementation of the horizontal rather than the longitudinal plane for monoplane TEE probes delayed access to the most optimal views of this particular defect.1 4 Also, the abnormality is more complex than that seen with the secundum atrial septal defect, and operators may either fail to recognize the defect or inadequately visualize the commonly associated anomalous pulmonary venous connections. Consequently, a review of patients with SVD who have had TEE at our institution was undertaken to address these issues.
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Methods |
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The echocardiography computer database was searched to identify all patients with SVD diagnosed with TEE from November 1987 through December 1995. The surgical records for the same period were reviewed to determine the number of patients who had surgical repair of SVD, including any who did not have SVD documented with TEE. The surgical notes were reviewed to ascertain the exact location of the defect, the number of anomalous pulmonary venous connections, and the presence of any associated defect. Clinical details, including ECG, chest radiographic, and cardiac catheterization data, were also reviewed.
Transthoracic echocardiography and TEE were performed in the standard manner, as previously described.3 23 24 25 Commercially available ultrasonography units were used, and the studies were recorded on 3/4-in videotape for storage and playback analysis. A 5-MHz monoplane probe with horizontal-plane imaging was used for the TEE studies in the first 5 patients. Twenty patients were examined with biplane (16 patients) or multiplane transducers (4 patients). Agitated normal saline was injected intravenously for contrast echocardiography.26 For the outpatient TEE studies, 10% lidocaine (Xylocaine) was applied topically for pharyngeal anesthesia, and midazolam (Versed) was given intravenously for sedation. Recently, flumazenil (Romazicon) has been used to reverse the sedative effects when required. Intraoperative TEE imaging before and after surgical repair was performed in 14 patients.
Imaging Technique
Examination of the atrial septum with the use of a longitudinal scan (biplane or multiplane TEE probe) provided the best visualization of SVD, which typically is located in the superior fatty limbus of the atrial septum, just inferior to the right pulmonary artery (viewed in its short axis) and the orifice of the superior vena cava (viewed in its long axis) (Fig 1
). This scan plane is obtained from the midesophagus when one starts with a long-axis view of the aortic valve (using the longitudinal transducer or 90° position of the multiplane transducer) and rotates the shaft of the TEE probe medially or to the right of the patient. This maneuver allows the best visualization of the fossa ovalis region with the superior limbus of the atrial septum and the superior vena cava in long axis (Fig 2), and it clearly demonstrates the pathognomonic feature of SVD: defect in the atrial septum between the fatty limbus and the inferior aspect of the right pulmonary artery (Fig 1).13 Saline contrast echocardiography and color-flow imaging were used to detect any bidirectional shunting across the plane of the atrial septum (Figs 3 and 4B). With monoplane TEE (five studies), SVD was visualized best in a basal short-axis scan. This required slight withdrawal of the transducer shaft upward from the aortic valve level to the junction of the right atrium and the superior vena cava. The defect appeared as an absence of the atrial septum just beneath the orifice of the superior vena cava (Fig 4A).
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Although the longitudinal plane is preferred for identification of normal pulmonary venous connections to the left atrium,27 delineation of anomalous pulmonary venous connections required a combination of views. The typical anomalous connection of the right upper and middle lobe veins was visualized best by use of the transverse (horizontal or 0°) plane. The anomalous right middle pulmonary veins usually entered at the cavoatrial junction adjacent to the SVD (Fig 4B
). Withdrawal of the TEE probe to the level of the right pulmonary artery best demonstrated the typical teardrop appearance of the superior vena cava caused by the anomalous connection of the right upper pulmonary vein to the superior vena cava (Fig 4C). Color-flow imaging enhanced the appreciation of the anomalous venous connections. Anomalous vein flow into the superior vena cava was quite distinct from the monophasic blue color in the adjacent right pulmonary artery (Fig 4D). Longitudinal views were used during contrast echocardiography to identify anomalous venous return (nonopacified blood) entering the distal superior vena cava.
Patients
Of the study patients, 14 (56%) were female and 11 (44%) were male. The median age at the time of TEE was 45 years (range, 10 to 75 years). Four patients presented with dyspnea or palpitations, and 2 had unexplained presyncope. The presenting complaint was noncardiovascular in most patients, including the 5 seen for routine medical examination. Review of systems elicited symptoms of exertional dyspnea or palpitations in 14 patients (56%), but 9 (36%) had no cardiovascular symptoms. The jugular venous pressure was abnormal in 9 patients (36%), and 13 (52%) had a prominent right ventricular precordial impulse. Auscultation revealed an abnormally split second heart sound in 20 patients (80%), which was fixed in 10. All patients had systolic murmurs, predominantly pulmonary (13 patients) or left sternal border (9 patients), and 10 patients had diastolic murmurs. Notably, 6 patients (24%) were considered to have an unremarkable examination for atrial septal defect, despite physician awareness of the diagnosis. Findings on chest auscultation were normal in all but 2 patients, and only 1 had peripheral edema.
Left-axis deviation of the P wave (<+15°) was present in 5 of 24 patients in sinus rhythm. First-degree AV block was present in 3 patients, right-axis deviation of the QRS complex was seen in 5, and the QRS axis was leftward in 3. Complete or incomplete right bundle branch block was present in 23 patients. Cardiomegaly was reported on the chest radiographs of 15 patients, and pulmonary plethora was reported in 14. Coronary angiography was performed in 11 patients. Four patients had cardiac catheterization, to assess pulmonary vascular resistance in 3 patients with pulmonary hypertension and to confirm left and right ventricular outflow tract gradients in 1 patient with previously palliated complex congenital heart disease (at which time a secundum atrial septal defect was diagnosed but SVD was missed).
Only five patients were referred for transthoracic echocardiography because of a clinically suspected atrial septal defect. Most of the studies were requested to evaluate left ventricular function or to ascertain the cause of nondiagnostic auscultatory findings.
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Results |
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Transthoracic Echocardiography
The most common feature of the transthoracic studies was the presence of dilatation of the right side of the heart consistent with volume overload. This was judged mild in 1 patient (4%) and moderate or greater in the remaining 24 (96%). None of the patients had significant pulmonary regurgitation, and only 3 had moderate or greater tricuspid regurgitation. The median tricuspid regurgitant velocity was 2.6 m/s (gradient, 27 mm Hg). Two patients had severe pulmonary hypertension (Doppler calculated systolic pressure >80 mm Hg). Global left ventricular systolic function was normal in all patients.
The SVD was visualized confidently in three patients (12%) by use of the subcostal parasagittal imaging plane. SVD was suspected in another three patients, and the presence of a shunt at the atrial level was inferred on the basis of color-flow imaging in eight patients. Anomalous pulmonary venous connections were diagnosed in three patients. Persistent left superior vena cava was diagnosed in two patients, suspected in two, and misinterpreted as a possible coronary sinus atrial septal defect in one.
TEE
Three patients with a confident transthoracic diagnosis of SVD had TEE imaging to determine anomalous pulmonary venous connections. TEE was performed with intraoperative imaging in 2 of these patients and preoperatively as an outpatient procedure in the other patient at the request of the referring cardiologist. Confirmatory TEE was performed in the 11 patients in whom an interatrial shunt was suspected, and 10 of the remaining 11 patients had TEE to exclude shunting as the cause of unexplained dilatation of the right side of the heart. The patient with previously palliated complex congenital heart disease had routine intraoperative TEE. Neither preoperative studies (including cardiac catheterization) nor digital examination of the atrial septum during previous cardiac operations had detected SVD in this patient.
The SVD was visualized confidently with TEE in all 25 patients. The diameter of the defect ranged from 1.0 to 3.0 cm (average, 1.7 cm). Anomalous pulmonary venous connections were identified in all but 2 patients. The anomalous veins were imaged but not recognized in the first patient who underwent TEE, and normal venous connections were confirmed intraoperatively in the patient with complex congenital heart disease and SVD. A total of 37 anomalous right-sided pulmonary venous connections were imaged in the other 23 patients. Most of these were considered to be from the upper lobe, with 10 from the middle lobe and 1 from the lower lobe. Normal left-sided connections were identified in all patients. Persistent left superior vena cava to the coronary sinus was identified in 5 patients (20%).
Operation
Surgical confirmation of SVD was obtained in 23 patients. One patient declined surgical intervention, and correction is pending in the remaining patient. Surgical corroboration was also available in 2 additional patients whose defects were correctly reclassified as secundum atrial septal defect with TEE after earlier misdiagnosis as SVD (one each by transthoracic echocardiography and cardiac catheterization). Another 10 anomalous pulmonary venous connections were identified at the time of surgery in addition to the 37 visualized with TEE. These additional veins were all on the right side (predominantly from the right upper lobe) and connected to the upper superior vena cava. No left-sided anomalous pulmonary veins were found at the time of surgery. Persistence of the left superior vena cava was confirmed in all 4 patients who underwent an operation. There were no perioperative complications, and no mortality was related to the operation.
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Discussion |
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Several new clinical and echocardiographic features of SVD were recognized from this study of 25 patients.
Clinical Features of SVD
The clinical spectrum of the symptoms and signs in the patients in the present study was more subtle than described previously.10 In many of the patients, the diagnosis was made after "fortuitous'' echocardiography. Only five patients were referred for transthoracic echocardiography because of clinically suspected atrial septal defect. Most patients did not present with symptoms referable to the cardiovascular system, including the five patients who were undergoing routine medical examination. Although it is tempting to ascribe the absence of typical signs in most of the patients to declining clinical skills in this era of test-based diagnostic medicine, there was little change in the clinical yield after examination by experienced clinical cardiologists with knowledge of the diagnosis. It is unlikely that these patients would have been offered cardiac catheterization as a diagnostic procedure, given the paucity of typical clinical signs. Whether the availability of TEE expedited an inevitable diagnosis for these patients or resulted in new diagnoses of SVD in patients in whom the defect otherwise would have remained undiagnosed is unclear.
Transthoracic Echocardiography
The diagnostic yield from transthoracic echocardiography was lower than might have been anticipated given the results of previous studies. It is unlikely that this reflects poor technique or a lack of awareness of the condition.1 5 15 Some of the patients had serial echocardiographic examinations over several years and remained undiagnosed until TEE was performed. After the diagnosis was made with TEE, two patients had repeat transthoracic studies before surgical correction, and even with full knowledge of the anatomic defect and the use of appropriate scanning maneuvers, the abnormality could not be visualized. This low yield is in contrast to previous experience with pediatric patients with SVD and adults with primum or secundum atrial septal defects.1 4 Presumably, this is a consequence of the far-field location of the defect rather than inadequate imaging or defect size, and it highlights the difficulty of making this diagnosis with transthoracic echocardiography.14 19 21 22
The other important observation was the high frequency (96%) of dilatation of the right side of the heart. Few of these patients were referred for transthoracic echocardiography specifically to look for intracardiac shunting; however, identification of dilatation of the right side of the heart without apparent explanation was frequently the major impetus for subsequent referral to TEE. The increasing availability of transthoracic echocardiography in the office setting is likely to result in continued identification of patients who have echocardiographic abnormalities despite minimal or incomplete clinical features.
TEE
In contrast to clinical examination or transthoracic echocardiography, TEE provided a sure way to make the diagnosis of SVD. TEE correctly identified this defect in all 23 patients who underwent surgical correction. TEE also correctly reclassified the defect as secundum atrial septal defect in 2 other patients (who, on the basis of transthoracic echocardiographic or cardiac catheterization results, had been given the misdiagnosis of SVD). Longitudinal-plane scanning provided the most reliable visualization of SVD (Fig 2). After a defect in the upper atrial septum has been identified, the presence or absence of any residual superior fatty limbus of the atrial septum (adjacent to the right pulmonary artery) can be used to distinguish SVD from a superior secundum atrial septal defect (Fig 1). Although a monoplane transducer with horizontal scans can be used to diagnose SVD, the anatomy is more readily appreciated from a longitudinal scan, and less probe manipulation is required to delineate the structures that border the defect. Contrary to a recent report,28 we found that this scan plane was obtained easily by use of either biplane or multiplane transducers.
Anomalous pulmonary venous connections were appreciated consistently with short-axis scans at the level of the superior vena cava near the junction with the right atrium and more superiorly at the level of the right pulmonary artery (Fig 4). Color-flow imaging and contrast echocardiography both were used to confirm the location of anomalous pulmonary venous connections. TEE had correctly identified one or more anomalous pulmonary venous connections in seven of eight patients in whom additional anomalous connections were identified intraoperatively. These additional right-sided connections entered the upper superior vena cava caudal to the insertion of the azygos vein. Although the connection of the azygos vein to the superior vena cava can be identified with longitudinal imaging, short-axis scans for imaging anomalous pulmonary venous connections at this level are typically precluded by interposition of the left main bronchus between the esophagus and superior vena cava. The surgeon was aware preoperatively that anomalous connections to the distal superior vena cava were present in these patients and that the left-sided connections were normal.
Surgical Repair
Although SVD and secundum atrial septal defect have a similar pathophysiology, the surgical techniques for repair of these two lesions are distinct.9 29 Sure knowledge of the presence of SVD or right-sided anomalous pulmonary venous connections and visualization of normal left-sided pulmonary venous connections are the most important prerequisites for surgical planning, and these data can be obtained with TEE. When SVD is diagnosed echocardiographically, it is not imperative that all or even any of the right-sided pulmonary veins be identified preoperatively, because it is our standard practice in these patients to open the pleura anteriorly on the right and to inspect the entire pulmonary venous return from the right lung directly. Similarly, when right-sided anomalous pulmonary venous connections are diagnosed echocardiographically, a direct inspection is made within the right atrium to determine whether there is SVD, secundum atrial septal defect, or an intact atrial septum. The appropriate surgical procedure is then performed.
It is not as easy for surgeons to detect anomalies of the left-sided pulmonary venous connections, especially when a left upper-lobe vein drains to a vertical vein and the left lower-lobe vein drains to the left atrium. Accurate preoperative or intraoperative TEE identification of the left-sided pulmonary venous connections simplifies and shortens the operative procedure. In our institution, cardiac catheterization is no longer required to define these anatomic features.
Correct preoperative classification of an atrial septal defect as SVD with identification of pulmonary venous connections is particularly important for surgeons with limited experience of patients with congenital defects. During the study period, four patients required reoperation for correction of previously unrecognized anomalous pulmonary venous connections after SVD closure at other institutions.
The role of intraoperative TEE for SVD repair requires clarification. In general, the more complex the congenital defect, the more likely that TEE will have an impact on the ultimate result.30 Intraoperative postrepair studies were performed in 14 patients. Completeness of the defect repair and exclusion of complications such as caval or pulmonary venous obstruction were documented in 13 patients. TEE identified persistent shunting from the superior vena cava to the left atrium at the superior end of the patch closure in the patient with complex congenital heart disease, which allowed resumption of cardiopulmonary bypass for correction.
Study Limitations
In this retrospective study, TEE had no errors in underdiagnosis or overdiagnosis of SVD. One limitation of the study is the inability to exclude false-negative TEE results. The effect of posttest referral bias conceivably would have precluded detection of a patient with SVD missed by TEE.
Although the patient with previously palliated complex congenital heart disease represents a different clinical spectrum from the other 24 patients in the series, this case does highlight the difficulty in distinguishing SVD from secundum atrial septal defect during catheterization and emphasizes that manual examination of the atrial septum at the time of surgery (to exclude atrial septal defects) can be unreliable.29
There are sporadic references to atypical SVDs that are posterior and inferior rather than posterior and superior.31 These are presumably rare anomalies; they have not been documented in the echocardiographic or surgical records at our institution.
Conclusions
TEE is a highly accurate means to diagnose SVD. TEE should be undertaken in any patient who has unexplained dilatation of the right side of the heart identified with transthoracic echocardiography, even in the absence of typical clinical signs of an interarterial shunt. Correct diagnosis of an atrial septal defect as a sinus venosus type and visualization of normal left-sided pulmonary venous connections are prerequisites for surgical planning. These data and identification of the commonly associated anomalous right pulmonary venous connections can be obtained with TEE. Cardiac catheterization is no longer required for preoperative diagnosis.
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Acknowledgments |
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Dr Pascoe is the recipient of an overseas cardiology fellowship from the Wesley Cardiovascular Research Foundation, Wesley Hospital, Brisbane, Australia.
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Footnotes |
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Reprint requests to James B. Seward, MD, Mayo Clinic, 200 First St SW, Rochester, MN 55905.
Received September 21, 1995; revision received March 4, 1996; accepted March 13, 1996.
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