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Multiplane transoesophageal echocardiography is the only definitive ultrasound approach in adult supravalvular aortic stenosis
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International Journal of Cardiology 53 (1996)305-309
Multiplane transoesophageal echocardiography is the only definitive ultrasound approach in adult supravalvular aortic stenosis D. Schiirger*, T. Bartel, S. Miiller, V. Gliech, G. Baumann First medical clinic, CharitC, Humboldt -
Universitiit
zu Berlin, Schumannstrasse 20121 10117 Berlin, Germany
Received7 September1995;accepted9 January 1996
Abstract This report describes a rare case of isolated supravalvular aortic stenosis (SVAS) in a 28 year-old female patient. A congenital heart defect, diagnosed at birth, was until 1994 suspectedto be a valvular aortic stenosis (VAS). Cardiac catheterization led to the diagnosis of supravalvular aortic stenosis, which could easily be confirmed by multiplane but not by monoplane transoesophageal echocardiography (TEE). Precordial examinations had not revealed the vitium, probably because the SVAS is a rare malformation of the ascending aorta, but with multiplane TEE the aortic narrowing could be imaged clearly and pressure gradients comparable to those found with invasive measurements were established. The advantages of this non-invasive method for diagnosis and preoperative preparation are discussed in detail. Keywords: Supravalvular aortic stenosis; Multiplane TEE; Preoperative preparation
1. Introduction Supravalvular aortic stenosis (SVAS) is a congenital, localized or diffuse narrowing of the ascending aorta originating at the superior margin of the sinuses of Valsalva, just above the level of the coronary arteries. Three different etiologies of the lesion are known: I. a sporadic anomaly, II. a component of the Williams-Beuren-Syndrome, also called the SVAS-Syndrome, and III. an autosomal dominant characteristic occasionally associ* Correspondingauthor. Tel.: + 49 30 28023450,fax: + 49 30 28022035.
ated with peripheral pulmonary stenosis. In addition to this, three morphological types have been defined: the most common is the so called ‘hourglass-type’ of deformity with thickening and dysfunction of the media leading to a constricting ridge at the superior margin of the sinuses of Valsalva. The membraneous type consists of a fibrous-fibromuscular diaphragm with a small opening, and the hypoplastic type is characterized by a diffuse narrowing with variable distance from the ascending aorta and uniform hypoplasia. A long standing SVAS usually leads to high left ventricular enddiastolic pressures, which may alter coronary artery morphology into a tortuous
0167-5273/96/$15.00 0 1996ElsevierScienceIreland Ltd. All rights reserved PIZ SO167-5273(96)02563-6
306
D. Schiirger et al. 1 International
Journal of Cardiology
53 (1996) 305-309
Fig. 1. Long-axis parasternal two-dimensional echocardiography demonstrating normal findings.
and dilated form with subsequent functional impairment. Major physical findings resemble those observed in patients with valvular aortic stenosis. SVAS, much like the latter, leads to an increased risk of endocarditis and unexpected sudden death [l]. Echocardiography may offer a relatively simple non-invasive approach for detecting and differentiating supravalvular from valvular and subvalvular stenosis.
2. Case report A 28 year-old female patient with a congenital heart defect diagnosed at birth was followed up in our outpatient clinic. Previously without symptoms, she had noticed general malaise, vertigo and dyspnoe for a few months. Physical examination revealed a well developed woman with no signs of cardiac decompensation. Peripheral pulmonary stenosis or other congenital disorders typical for Williams-Beuren-Syndrome were absent and there was no family history of cardiac abnormalities. No genetic studies were done. Blood pressure was between 140-95 (systolic) and 95-75 (diastolic). On auscultation, a grade 4/6 hoarse holosystolic murmur was audible, which was loudest at
the right sternal border in the second intercostal space and transmitted to the carotid arteries. The ECG showed a positive Sokolow-Lyon Index (Svl + Rv5: 3.8 mV) indicating left ventricular hypertrophy. ST-segment depression and T-wave inversion in lead-V6 was indicative of mild ischemic change. The chest radiograph showed normal cardiac dimensions, aorta and pulmonary vessels were within normal limits. A non-sclerotic grade III valvular aortic stenosis had previously been falsely diagnosed by transthoracic echocardiography. The size of the left ventricle was normal (43 mm) with symmetric hypertrophy of the intraventricular septum (14 mm) and the left ventricular posterior wall (14 mm). The left atrium measured 35 mm, the aortic root diameter was 22 mm and the RVOT 29 mm. Continuous wave doppler permitted the determination of a peak-pressure gradient of 71 mmHg and a meanpressure gradient of 38 mmHg. Mild mitral regurgitation was noted, but aortic insufficiency was ruled out. Upon hospital admission two months later, increased pressure gradients were demonstrated using multiplane TEE: the peak and mean pressure gradients were 100 mmHg and 60 mmHg respectively. While earlier transthoracic echocardiogra-
D. Schiirger et al. /International
Journal of Cardiology
phy and monoplane TEE had not revealed the stenosis (Figs. 1 and 2), an SVAS was now clearly to be seen at an angle of exactly 135”, 16 mm above the leaflets. Cardiac catheterization showed a narrowing of the ascending aorta, 10 mm above the aortic sinus (Fig. 3), the arcus diameter was approximately 25 mm. The mean pressure gradient was 56 mmHg, in agreement with what was measured by TEE. The stenosis area was calculated to be 0.62 cm2 in single plane mode, using Gorlin’s method. Selective coronary angiography showed no abnormalities except for a dilated, but morphologically normal, right coronary artery. Peripheral pulmonary stenosis was ruled out and operative correction was recommended. 3. Discussion
We believe this to be the first case-report of a presumed sporadic anomaly of SVAS diagnosed by multiplane TEE. The morphology of this type of SVAS, identified by cardiac catheterization and transesophageal echocardiography, is a stenosis of the so called ‘hourglass-type’. Pressure gradients determined by TEE corresponded closely to those obtained by cardiac catheterization. As a result, multiplane TEE is a good non-invasive method for diagnosing SVAS. Symptoms and physical findings of valvular aortic stenosis (VAS) resemble those of SVAS. Although VAS is the more common aortic congenital malformation it is necessary to think of SVAS or SVAS-syndrome as a differential diagnosis, particularly in the absence of the signs and symptoms of Williams-BeurenSyndrome or family history of congenital heart disease. Previous studies were able to demonstrate narrowings of the ascending aorta by m-mode [2,3] and two-dimensional-echocardiography [4]. A continuous strip chart echocardiography recording was reported by Usher et al. [2], demonstrating an SVAS-like narrowing in a 9 year-old The Williams-Beuren-Syndrome. boy with echocardiographic features of six cases of SVAS were described by Bolen et al. [3]. Weyman et al. [4] established cross-sectional echocardiography
53 (1996) 305-309
307
as a valuable non-invasive method for evaluating the ascending aorta in patients with SVAS. They concluded that two-dimensional echocardiography detects supravalvular aortic obstruction and precisely characterizes the location of the area of obstruction. In 1988, Ensing and colleagues [5] demonstrated the usefulness of cross-sectional, mmode and Doppler-echocardiography as a screening method in family members with autosomal dominant supravalvular aortic stenosis, which was not part of a known clinical syndrome. Using this method it became possible to identify patients with clinically significant pathology. As reported recently, transoesophageal echocardiographic imaging is advantageous over precordial imaging of congenital heart defects for several reasons [6]. TEE detected SVAS in patients in whom precordial imaging was negative. However, conventional methods, such as transthoracic echocardiography or monoplane TEE, are not always reliable for diagnosing SVAS, since in monoplane imaging there is usually a l-2 cm long blind spot just above the aortic root, due to interposition of the air-filled trachea and bronchi. Whenever SVAS is a differential diagnosis, this region is of great importance, and transesophageal echocardiography using a monoplane probe is therefore not sufficient for establishing this diagnosis. Use of the biplane probe is a well established method for precisely defining lesions of the ascending aorta, and thus biplane TEE might also be superior to the monoplane TEE in the diagnosis of SVAS [7]. Nevertheless biplane imaging has disadvantages compared with multiplane TEE. The newly developed multiplane transesophageal echocardiography, which allows for continuous visualization by rotation of the transducer array produces a continuum of transverse and longitudinal images. Optimal visualization of a SVAS was shown to be at a 135” angle, which is particularly difficult with biplane probes. Image orientation consistent with standardized recommendations should be used in five standard arrays, including the rotation of the arrays to 135” as proposed by Seward et al. [8]. Although, there are interindividual variations and therefore, the angle at which the standard images is obtained varies slightly from patient to patient, it is beneficial to use standardized scans in multiplane TEE.
308
D. Schiirger et al. / International
Journal of Cardiology
53 (1996) 305-309
D. Schiirger et al. /International
Journal of Cardiology
53 (1996) 305-309
309
Fig. 3. Aortography in a 60” LAO-position.
In conclusion, close follow up and the use of a wide variety of diagnostic methods is of utmost importance in patients with normal morphology of the aortic valve but increased pressure gradients. Where SVAS can only be tentatively diagnosed, multiplane TEE may be considered as an important non-invasive method to establish the diagnosis of this rare malformation of the ascending aorta. References [l] Braunwald E. Heart Disease - a textbook of cardiovascular medicine. W.B. Saunders Company Philadelphia. Vol 1 and 2. 4th Edt, 1992. [2] Usher B, Goulden D, Murgo J. Echocardiographic Detection of Supravalvular Aortic Stenosis. Circulation 1974; 159: 1257-1259. [3] Bolen J, Popp R, French J. Echocardiographic Features of Supravalvular Aortic Stenosis. Circulation 1975; 52: 817822.
[4] Weyman A, Caldwell R, Hurwitz R, Girod D, Dillon J, Feigenbaum H, Green D. Cross-Sectional Echocardiographic Characterization of Aortic Obstruction. Circulation 1978; 5713:491-497. [5] Ensing G, Schmidt M, Hagler D, Michels V, Carter G, Feldt R. Spectrum of Findings in a Family with Nonsyndromic Autosomal Dominant Supravalvular Aortic Stenosis: A Doppler Echocardiographic Study. J Am Co11 Cardiol 1989; 13/2: 413-419. [6] Sreeram N, Sutherland R, Geuskens R, Stumper 0, Taams M, Gussenhoven E, Hess J, Roelandt J. The Role of Transoesophageal Echocardiography in Adolescents and Adults with Congenital Heart Defects. Eur Heart J 1991; 12: 231-240. [7] Matsuzaki M, Toma Y, Kusukawa R. Clinical Applications of Transesophageal Echocardiography. Circulation 1990; 8213:7099722. [8] Seward J, Khandheria B, Freeman W, Oh J, EnriquezSarano M, Miller F, Edwards W, Tajik J. Multiplane Transesophageal Echocardiography: Image Orientation, Examination Technique, Anatomic Correlations, and Clinical Applications. Mayo Clin Proc 1993; 68: 523551.
International Journal of Cardiology 53 (1996)305-309
Multiplane transoesophageal echocardiography is the only definitive ultrasound approach in adult supravalvular aortic stenosis D. Schiirger*, T. Bartel, S. Miiller, V. Gliech, G. Baumann First medical clinic, CharitC, Humboldt -
Universitiit
zu Berlin, Schumannstrasse 20121 10117 Berlin, Germany
Received7 September1995;accepted9 January 1996
Abstract This report describes a rare case of isolated supravalvular aortic stenosis (SVAS) in a 28 year-old female patient. A congenital heart defect, diagnosed at birth, was until 1994 suspectedto be a valvular aortic stenosis (VAS). Cardiac catheterization led to the diagnosis of supravalvular aortic stenosis, which could easily be confirmed by multiplane but not by monoplane transoesophageal echocardiography (TEE). Precordial examinations had not revealed the vitium, probably because the SVAS is a rare malformation of the ascending aorta, but with multiplane TEE the aortic narrowing could be imaged clearly and pressure gradients comparable to those found with invasive measurements were established. The advantages of this non-invasive method for diagnosis and preoperative preparation are discussed in detail. Keywords: Supravalvular aortic stenosis; Multiplane TEE; Preoperative preparation
1. Introduction Supravalvular aortic stenosis (SVAS) is a congenital, localized or diffuse narrowing of the ascending aorta originating at the superior margin of the sinuses of Valsalva, just above the level of the coronary arteries. Three different etiologies of the lesion are known: I. a sporadic anomaly, II. a component of the Williams-Beuren-Syndrome, also called the SVAS-Syndrome, and III. an autosomal dominant characteristic occasionally associ* Correspondingauthor. Tel.: + 49 30 28023450,fax: + 49 30 28022035.
ated with peripheral pulmonary stenosis. In addition to this, three morphological types have been defined: the most common is the so called ‘hourglass-type’ of deformity with thickening and dysfunction of the media leading to a constricting ridge at the superior margin of the sinuses of Valsalva. The membraneous type consists of a fibrous-fibromuscular diaphragm with a small opening, and the hypoplastic type is characterized by a diffuse narrowing with variable distance from the ascending aorta and uniform hypoplasia. A long standing SVAS usually leads to high left ventricular enddiastolic pressures, which may alter coronary artery morphology into a tortuous
0167-5273/96/$15.00 0 1996ElsevierScienceIreland Ltd. All rights reserved PIZ SO167-5273(96)02563-6
306
D. Schiirger et al. 1 International
Journal of Cardiology
53 (1996) 305-309
Fig. 1. Long-axis parasternal two-dimensional echocardiography demonstrating normal findings.
and dilated form with subsequent functional impairment. Major physical findings resemble those observed in patients with valvular aortic stenosis. SVAS, much like the latter, leads to an increased risk of endocarditis and unexpected sudden death [l]. Echocardiography may offer a relatively simple non-invasive approach for detecting and differentiating supravalvular from valvular and subvalvular stenosis.
2. Case report A 28 year-old female patient with a congenital heart defect diagnosed at birth was followed up in our outpatient clinic. Previously without symptoms, she had noticed general malaise, vertigo and dyspnoe for a few months. Physical examination revealed a well developed woman with no signs of cardiac decompensation. Peripheral pulmonary stenosis or other congenital disorders typical for Williams-Beuren-Syndrome were absent and there was no family history of cardiac abnormalities. No genetic studies were done. Blood pressure was between 140-95 (systolic) and 95-75 (diastolic). On auscultation, a grade 4/6 hoarse holosystolic murmur was audible, which was loudest at
the right sternal border in the second intercostal space and transmitted to the carotid arteries. The ECG showed a positive Sokolow-Lyon Index (Svl + Rv5: 3.8 mV) indicating left ventricular hypertrophy. ST-segment depression and T-wave inversion in lead-V6 was indicative of mild ischemic change. The chest radiograph showed normal cardiac dimensions, aorta and pulmonary vessels were within normal limits. A non-sclerotic grade III valvular aortic stenosis had previously been falsely diagnosed by transthoracic echocardiography. The size of the left ventricle was normal (43 mm) with symmetric hypertrophy of the intraventricular septum (14 mm) and the left ventricular posterior wall (14 mm). The left atrium measured 35 mm, the aortic root diameter was 22 mm and the RVOT 29 mm. Continuous wave doppler permitted the determination of a peak-pressure gradient of 71 mmHg and a meanpressure gradient of 38 mmHg. Mild mitral regurgitation was noted, but aortic insufficiency was ruled out. Upon hospital admission two months later, increased pressure gradients were demonstrated using multiplane TEE: the peak and mean pressure gradients were 100 mmHg and 60 mmHg respectively. While earlier transthoracic echocardiogra-
D. Schiirger et al. /International
Journal of Cardiology
phy and monoplane TEE had not revealed the stenosis (Figs. 1 and 2), an SVAS was now clearly to be seen at an angle of exactly 135”, 16 mm above the leaflets. Cardiac catheterization showed a narrowing of the ascending aorta, 10 mm above the aortic sinus (Fig. 3), the arcus diameter was approximately 25 mm. The mean pressure gradient was 56 mmHg, in agreement with what was measured by TEE. The stenosis area was calculated to be 0.62 cm2 in single plane mode, using Gorlin’s method. Selective coronary angiography showed no abnormalities except for a dilated, but morphologically normal, right coronary artery. Peripheral pulmonary stenosis was ruled out and operative correction was recommended. 3. Discussion
We believe this to be the first case-report of a presumed sporadic anomaly of SVAS diagnosed by multiplane TEE. The morphology of this type of SVAS, identified by cardiac catheterization and transesophageal echocardiography, is a stenosis of the so called ‘hourglass-type’. Pressure gradients determined by TEE corresponded closely to those obtained by cardiac catheterization. As a result, multiplane TEE is a good non-invasive method for diagnosing SVAS. Symptoms and physical findings of valvular aortic stenosis (VAS) resemble those of SVAS. Although VAS is the more common aortic congenital malformation it is necessary to think of SVAS or SVAS-syndrome as a differential diagnosis, particularly in the absence of the signs and symptoms of Williams-BeurenSyndrome or family history of congenital heart disease. Previous studies were able to demonstrate narrowings of the ascending aorta by m-mode [2,3] and two-dimensional-echocardiography [4]. A continuous strip chart echocardiography recording was reported by Usher et al. [2], demonstrating an SVAS-like narrowing in a 9 year-old The Williams-Beuren-Syndrome. boy with echocardiographic features of six cases of SVAS were described by Bolen et al. [3]. Weyman et al. [4] established cross-sectional echocardiography
53 (1996) 305-309
307
as a valuable non-invasive method for evaluating the ascending aorta in patients with SVAS. They concluded that two-dimensional echocardiography detects supravalvular aortic obstruction and precisely characterizes the location of the area of obstruction. In 1988, Ensing and colleagues [5] demonstrated the usefulness of cross-sectional, mmode and Doppler-echocardiography as a screening method in family members with autosomal dominant supravalvular aortic stenosis, which was not part of a known clinical syndrome. Using this method it became possible to identify patients with clinically significant pathology. As reported recently, transoesophageal echocardiographic imaging is advantageous over precordial imaging of congenital heart defects for several reasons [6]. TEE detected SVAS in patients in whom precordial imaging was negative. However, conventional methods, such as transthoracic echocardiography or monoplane TEE, are not always reliable for diagnosing SVAS, since in monoplane imaging there is usually a l-2 cm long blind spot just above the aortic root, due to interposition of the air-filled trachea and bronchi. Whenever SVAS is a differential diagnosis, this region is of great importance, and transesophageal echocardiography using a monoplane probe is therefore not sufficient for establishing this diagnosis. Use of the biplane probe is a well established method for precisely defining lesions of the ascending aorta, and thus biplane TEE might also be superior to the monoplane TEE in the diagnosis of SVAS [7]. Nevertheless biplane imaging has disadvantages compared with multiplane TEE. The newly developed multiplane transesophageal echocardiography, which allows for continuous visualization by rotation of the transducer array produces a continuum of transverse and longitudinal images. Optimal visualization of a SVAS was shown to be at a 135” angle, which is particularly difficult with biplane probes. Image orientation consistent with standardized recommendations should be used in five standard arrays, including the rotation of the arrays to 135” as proposed by Seward et al. [8]. Although, there are interindividual variations and therefore, the angle at which the standard images is obtained varies slightly from patient to patient, it is beneficial to use standardized scans in multiplane TEE.
308
D. Schiirger et al. / International
Journal of Cardiology
53 (1996) 305-309
D. Schiirger et al. /International
Journal of Cardiology
53 (1996) 305-309
309
Fig. 3. Aortography in a 60” LAO-position.
In conclusion, close follow up and the use of a wide variety of diagnostic methods is of utmost importance in patients with normal morphology of the aortic valve but increased pressure gradients. Where SVAS can only be tentatively diagnosed, multiplane TEE may be considered as an important non-invasive method to establish the diagnosis of this rare malformation of the ascending aorta. References [l] Braunwald E. Heart Disease - a textbook of cardiovascular medicine. W.B. Saunders Company Philadelphia. Vol 1 and 2. 4th Edt, 1992. [2] Usher B, Goulden D, Murgo J. Echocardiographic Detection of Supravalvular Aortic Stenosis. Circulation 1974; 159: 1257-1259. [3] Bolen J, Popp R, French J. Echocardiographic Features of Supravalvular Aortic Stenosis. Circulation 1975; 52: 817822.
[4] Weyman A, Caldwell R, Hurwitz R, Girod D, Dillon J, Feigenbaum H, Green D. Cross-Sectional Echocardiographic Characterization of Aortic Obstruction. Circulation 1978; 5713:491-497. [5] Ensing G, Schmidt M, Hagler D, Michels V, Carter G, Feldt R. Spectrum of Findings in a Family with Nonsyndromic Autosomal Dominant Supravalvular Aortic Stenosis: A Doppler Echocardiographic Study. J Am Co11 Cardiol 1989; 13/2: 413-419. [6] Sreeram N, Sutherland R, Geuskens R, Stumper 0, Taams M, Gussenhoven E, Hess J, Roelandt J. The Role of Transoesophageal Echocardiography in Adolescents and Adults with Congenital Heart Defects. Eur Heart J 1991; 12: 231-240. [7] Matsuzaki M, Toma Y, Kusukawa R. Clinical Applications of Transesophageal Echocardiography. Circulation 1990; 8213:7099722. [8] Seward J, Khandheria B, Freeman W, Oh J, EnriquezSarano M, Miller F, Edwards W, Tajik J. Multiplane Transesophageal Echocardiography: Image Orientation, Examination Technique, Anatomic Correlations, and Clinical Applications. Mayo Clin Proc 1993; 68: 523551.