Heart Vessels DOI 10.1007/s00380-013-0445-8
CASE REPORT
Aneurysmal aorto-left ventricular tunnel causing right ventricular outflow tract obstruction, associated with bicuspid aortic valve Rodica Toganel • Theodora Benedek Carmen Suteu • Imre Benedek
•
Received: 28 August 2013 / Accepted: 8 November 2013 Ó Springer Japan 2013
Abstract We report the case of a newborn with an aneurysmal aorto-left ventricular tunnel causing significant paravalvular aortic regurgitation and obstruction of the right ventricular outflow tract (RVOT), coexisting with a bicuspid aortic valve. The coexistence of the two malformations together with the obstruction of the RVOT is very rare. In this case, the prompt diagnosis and surgery led to significant improvement of the clinical status and to recovery of the left ventricular function (increase of the ejection fraction from 21 to 41 %), underlining the importance of early diagnosis in this rare malformation.
terminates in the left ventricle, below the right coronary cusp [3]. The etiology of this malformation remains uncertain; however, several authors have suggested that it is linked to the maldevelopment of the cushions, giving rise to the pulmonary and aortic roots, associated with an abnormal separation of these structures [4]. In nearly half of these cases, associated defects of the aortic and pulmonary valves or of the proximal coronary arteries are recorded [5, 6].
Case report Keywords Aorto-ventricular tunnel Congenital heart disease Aortic regurgitation
Introduction Congenital aorto-left ventricular tunnel is a rare heart disease, accounting for up to 0.1–0.5 % of congenital heart malformations, with a higher frequency in male patients [1]. This anomaly was first described by Levy et al. in 1963 [2], after which very few cases have been reported. Aorto-left ventricular tunnel consists of an extracardiac direct communication between the aorta and the left ventricle. In most of these cases, the communication originates from the aorta above the sinotubular junction and R. Toganel T. Benedek C. Suteu I. Benedek University of Medicine and Pharmacy Tirgu Mures, Tirgu Mures, Romania T. Benedek (&) I. Benedek Cardiomed Medical Center Tirgu Mures, 22 decembrie 1989 no. 76–78, Tirgu Mures, Romania e-mail: [email protected]
We present the case of a newborn (male, gestational age 37 weeks, birth weight 3,550 g), referred to our institution at 21 days after his birth for a continuous systolic–diastolic left parasternal murmur and symptoms of heart failure: severe dyspnea, diaphoresis, and unsatisfactory growth rate. Chest X-ray revealed significant cardiomegaly, with a cardiothoracic index of 0.75 and a broad upper mediastinal shadow from the enlarged ascending aorta. The electrocardiogram showed signs of left ventricular hypertrophy. Echocardiography showed a dilated left ventricle with a very low ejection fraction (EF) of 21 %, and a significant bidirectional turbulent flow via a tubular communication between the aorta and the left ventricle, located anterior to the aortic root and bypassing the aortic valve (Fig. 1). The orientation of the flow was from the left ventricle to the aorta in systole and from the aorta to the left ventricle, resulting in a significant paravalvular aortic regurgitation, in diastole. Echocardiography identified both ends of the communication, the aortic one above the coronary sinus and the left ventricular one below the right coronary cusp. According to this echocardiographic aspect, the communication was diagnosed as an aorto-left ventricular tunnel,
123
Heart Vessels Fig. 1 Echocardiographic examination, modified parasternal long-axis view. Right B-mode examination: junction of tunnel (T) to Aorta (Ao) above the coronary sinus, measured as 6 mm in diameter, and to the left ventricle (LV), measured as 8 mm in diameter. MV mitral valve, LA left atrium, AoV aortic valve. Left Color Doppler examination: flow through the tunnel in diastole, creating a significant aortic paravalvular regurgitation. The communication is visible in its entire length (arrow)
ventricular function (volumetric EF of 41 %), minor aortic regurgitation, and no obstruction at the RVOT.
Discussion
Fig. 2 Echocardiographic examination, aortic short-axis view. Visualization of turbulent flow in the RVOT (arrow), compressed by the aneurysmal tunnel. PA pulmonary artery, RVOT right ventricular outflow tract
which appeared to be aneurysmal, with a diameter of 6 mm at the aortic end and 8 mm at the ventricular end. Echocardiography also revealed a bicuspid aortic valve with minor valvular regurgitation, and a significant dilatation of the ascending aorta (aorta diameter 18.6 mm, with Z-scores of 5.86 at the level of the aortic valve and 7.07 at the level of the ascending aorta). Because of its aneurysmal nature, the tunnel compressed the right ventricular outflow tract (RVOT), causing obstruction at this level (peak systolic gradient 20 mm Hg) (Fig. 2). Surgical intervention was decided upon, and the patient was operated on at week 5. The repair was achieved by the obliteration of the tunnel under extracorporeal circulation. Postoperatively the status of the patient significantly improved, and he was discharged on day 16 after surgery. Echocardiography at discharge revealed a recovered left
123
An aorto-left ventricular tunnel is one of the most important causes of severe heart failure in newborns, caused by the associated significant regurgitation via the tunnel from the aorta to the left ventricle [7]. Even though the diagnosis of this anomaly could be easily established in the prenatal period, it is usually diagnosed only after birth, when symptoms and signs of left ventricular volume overload become evident. Very few reports of aortoventricular tunnels are presented in the literature, most of them describing the association of the tunnel with other coexisting abnormalities of the aortic valves or coronary arteries [8]. However, to the best of our knowledge there is no case published so far describing the coexistence of an aneurysmal tunnel with an RVOT obstruction and bicuspid aortic valve at the same time. It has been suggested in the literature that an aneurysmal aorto-left ventricular tunnel could cause RVOT obstruction owing to the presence of the right ventricular infundibulum in the proximity of the aortic sinus, where the tunnel terminates [9]. In this case, a left ventricular hole of the defect larger than the aortic one caused the aneurysmal dilation of the tunnel. As the tunnel was located in immediate proximity to the RVOT, anterior to the aortic root, the aneurysmal dilation of the tunnel caused bulging of the septum into the right ventricle, which could explain the reversible mild RVOT obstruction. The coexisting anomaly of the aortic valve most likely has a common etiology with the tunnel, with both being
Heart Vessels
caused by a maldevelopment of the cushions, giving rise to the aortic root in the embryonic period. The coexistence of the two malformations together with the obstruction of the RVOT creates a very rare and interesting clinical picture in this case. However, as the valvular regurgitation associated with the bicuspid aortic valve was only mild, it did not require repair. Therefore the surgery consisted only of the repair of the tunnel, which led to the disappearance of the paravalvular aortic regurgitation, recovery of the left ventricular function, and regression of the RVOT obstruction. The differential diagnosis of an aorto-left ventricular tunnel includes ventricular septal defect, rupture of the sinus of Valsalva, and coronary artery–left ventricular fistula [10, 11]. The echocardiographic appearance of the tunnel shows many similarities with a subaortic ventricular septal defect, given the opening of the ventricular end of the tunnel in the subaortic region [12, 13]. In our case, the ventricular septal defect was excluded by the absence of any shunt or right ventricular overload. A ruptured sinus of Valsalva was excluded by the absence of a dilated sinus of Valsalva, and the coronary artery–ventricular fistula was excluded by the normal appearance of the coronary arteries. Interestingly, in this case the severe aortic paravalvular regurgitation within the tunnel was associated with a mild aortic valvular regurgitation caused by the bicuspid aortic valve. The coexistence of valvular and paravalvular aortic regurgitation can frequently lead to diagnostic errors, confounding the rare malformation (the tunnel) with the more frequent one (valvular regurgitation caused by the bicuspid aortic valve), especially when the regurgitant flow is eccentric and is visualized in apical views. The false attribution of the regurgitant flow within the tunnel to the regurgitation across the bicuspid valve leads not only to the missed diagnosis of the tunnel but also to overestimation of the severity of aortic valve disease. The optimal management of patients with an aortoventricular tunnel consists of early diagnosis followed by a prompt surgical repair. In the presence of a symptomatic newborn with left ventricular failure, echocardiographic examination should be performed as soon as possible [14]. However, owing to the very rare nature of this malformation, the tunnel remains unrecognized in many cases. Given the importance of immediate surgery for preventing evolution toward severe left ventricular failure, the examiners should search for this pathologic appearance in any fetus or
newborn with signs of aortic regurgitation. Furthermore, prenatal diagnosis could indicate the referral for delivery in a tertiary care center where all the necessary facilities for appropriate assistance, including cardiac surgery for an immediate postnatal surgical repair, are available.
References 1. McKay R, Anderson RH, Cook AH (2002) The aorto-ventricular tunnels. Cardiol Young 12:563–580 2. Levy MJ, Lillehei CW, Anderson RC, Amplatz K, Edwards JE (1963) Aortico-left ventricular tunnel. Circulation 27:841–853 3. Horvath P, Balaji S, Skovranek S, Hucin B, de Leval MR, Stark J (1991) Surgical treatment of aortico-left ventricular tunnel. Eur J Cardiothorac Surg 5:113–117 4. Mitropoulos FA, Laks H, Kanakis MA, Levi D (2006) Aorto-left ventricular tunnel: an alternative surgical approach. Ann Thorac Surg 82:1113–1115 5. Mori Y, Takahashi K, Nakanishi T (2013) Complications of cardiac catheterization in adults and children with congenital heart disease in the current era. Heart Vessels 28:352–359 6. Le Gloan L, Mongeon FP, Mercier LA, Dore A, Marcotte F, Ibrahim R, Asgar A, Miro J, Poirier N, Khairy P (2013) Tetralogy of Fallot and aortic root disease. Expert Rev Cardiovasc Ther 11:233–238 7. Nezafati MH, Maleki MH, Javan H, Zirak N (2010) Repair of aorto-left ventricular tunnel arising from the left sinus of Valsalva. J Card Surg 25:345–346 8. Singh SK, Dwivedi SK, Kumar A, Vijay SK, Rajput N, Devenraj V, Lal Sahni J (2012) Aneurysmal aorto-right ventricular tunnel. Ann Thorac Surg 93:e21–e22 9. Troubil M, Lonsky V, Petr S (2010) Aorto-left ventricular tunnel causing severe aortic regurgitation in adult man. Eur Heart J 31:145 10. Yoshino S, Minagoe S, Yu B, Kosedo I, Yamashita M, Ishizawa M, Kono M, Setoguchi M, Nakashima H, Matsuoka T, Suehiro S, Yotsumoto G, Yamashita M, Tei C (2013) Cardiac tamponade due to rupture of coronary artery fistula to the coronary sinus with giant aneurysm of coronary artery: usefulness of transthoracic echocardiography. Heart Vessels 28:536–540 11. Zanjani KS, Niwa K (2013) Aortic dilatation and aortopathy in congenital heart diseases. J Cardiol 61:16–21 12. Knott-Craig CJ, van der Merwe PL, Kalis NN, Hunter J (1992) Repair of aortico-left ventricular tunnel associated with subpulmonary obstruction. Ann Thorac Surg 52–54:557–559 13. Wei Y, Wang X, Zhang S, Hou L, Wang Y, Xu Y, Sun Q, Zhao H (2012) Transcatheter closure of perimembranous ventricular septal defects (VSD) with VSD occluder: early and mid-term results. Heart Vessels 27:398–404 14. McKay R (2007) Aorto-ventricular tunnel. Orphanet J Rare Dis 2:41
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CASE REPORT
Aneurysmal aorto-left ventricular tunnel causing right ventricular outflow tract obstruction, associated with bicuspid aortic valve Rodica Toganel • Theodora Benedek Carmen Suteu • Imre Benedek
•
Received: 28 August 2013 / Accepted: 8 November 2013 Ó Springer Japan 2013
Abstract We report the case of a newborn with an aneurysmal aorto-left ventricular tunnel causing significant paravalvular aortic regurgitation and obstruction of the right ventricular outflow tract (RVOT), coexisting with a bicuspid aortic valve. The coexistence of the two malformations together with the obstruction of the RVOT is very rare. In this case, the prompt diagnosis and surgery led to significant improvement of the clinical status and to recovery of the left ventricular function (increase of the ejection fraction from 21 to 41 %), underlining the importance of early diagnosis in this rare malformation.
terminates in the left ventricle, below the right coronary cusp [3]. The etiology of this malformation remains uncertain; however, several authors have suggested that it is linked to the maldevelopment of the cushions, giving rise to the pulmonary and aortic roots, associated with an abnormal separation of these structures [4]. In nearly half of these cases, associated defects of the aortic and pulmonary valves or of the proximal coronary arteries are recorded [5, 6].
Case report Keywords Aorto-ventricular tunnel Congenital heart disease Aortic regurgitation
Introduction Congenital aorto-left ventricular tunnel is a rare heart disease, accounting for up to 0.1–0.5 % of congenital heart malformations, with a higher frequency in male patients [1]. This anomaly was first described by Levy et al. in 1963 [2], after which very few cases have been reported. Aorto-left ventricular tunnel consists of an extracardiac direct communication between the aorta and the left ventricle. In most of these cases, the communication originates from the aorta above the sinotubular junction and R. Toganel T. Benedek C. Suteu I. Benedek University of Medicine and Pharmacy Tirgu Mures, Tirgu Mures, Romania T. Benedek (&) I. Benedek Cardiomed Medical Center Tirgu Mures, 22 decembrie 1989 no. 76–78, Tirgu Mures, Romania e-mail: [email protected]
We present the case of a newborn (male, gestational age 37 weeks, birth weight 3,550 g), referred to our institution at 21 days after his birth for a continuous systolic–diastolic left parasternal murmur and symptoms of heart failure: severe dyspnea, diaphoresis, and unsatisfactory growth rate. Chest X-ray revealed significant cardiomegaly, with a cardiothoracic index of 0.75 and a broad upper mediastinal shadow from the enlarged ascending aorta. The electrocardiogram showed signs of left ventricular hypertrophy. Echocardiography showed a dilated left ventricle with a very low ejection fraction (EF) of 21 %, and a significant bidirectional turbulent flow via a tubular communication between the aorta and the left ventricle, located anterior to the aortic root and bypassing the aortic valve (Fig. 1). The orientation of the flow was from the left ventricle to the aorta in systole and from the aorta to the left ventricle, resulting in a significant paravalvular aortic regurgitation, in diastole. Echocardiography identified both ends of the communication, the aortic one above the coronary sinus and the left ventricular one below the right coronary cusp. According to this echocardiographic aspect, the communication was diagnosed as an aorto-left ventricular tunnel,
123
Heart Vessels Fig. 1 Echocardiographic examination, modified parasternal long-axis view. Right B-mode examination: junction of tunnel (T) to Aorta (Ao) above the coronary sinus, measured as 6 mm in diameter, and to the left ventricle (LV), measured as 8 mm in diameter. MV mitral valve, LA left atrium, AoV aortic valve. Left Color Doppler examination: flow through the tunnel in diastole, creating a significant aortic paravalvular regurgitation. The communication is visible in its entire length (arrow)
ventricular function (volumetric EF of 41 %), minor aortic regurgitation, and no obstruction at the RVOT.
Discussion
Fig. 2 Echocardiographic examination, aortic short-axis view. Visualization of turbulent flow in the RVOT (arrow), compressed by the aneurysmal tunnel. PA pulmonary artery, RVOT right ventricular outflow tract
which appeared to be aneurysmal, with a diameter of 6 mm at the aortic end and 8 mm at the ventricular end. Echocardiography also revealed a bicuspid aortic valve with minor valvular regurgitation, and a significant dilatation of the ascending aorta (aorta diameter 18.6 mm, with Z-scores of 5.86 at the level of the aortic valve and 7.07 at the level of the ascending aorta). Because of its aneurysmal nature, the tunnel compressed the right ventricular outflow tract (RVOT), causing obstruction at this level (peak systolic gradient 20 mm Hg) (Fig. 2). Surgical intervention was decided upon, and the patient was operated on at week 5. The repair was achieved by the obliteration of the tunnel under extracorporeal circulation. Postoperatively the status of the patient significantly improved, and he was discharged on day 16 after surgery. Echocardiography at discharge revealed a recovered left
123
An aorto-left ventricular tunnel is one of the most important causes of severe heart failure in newborns, caused by the associated significant regurgitation via the tunnel from the aorta to the left ventricle [7]. Even though the diagnosis of this anomaly could be easily established in the prenatal period, it is usually diagnosed only after birth, when symptoms and signs of left ventricular volume overload become evident. Very few reports of aortoventricular tunnels are presented in the literature, most of them describing the association of the tunnel with other coexisting abnormalities of the aortic valves or coronary arteries [8]. However, to the best of our knowledge there is no case published so far describing the coexistence of an aneurysmal tunnel with an RVOT obstruction and bicuspid aortic valve at the same time. It has been suggested in the literature that an aneurysmal aorto-left ventricular tunnel could cause RVOT obstruction owing to the presence of the right ventricular infundibulum in the proximity of the aortic sinus, where the tunnel terminates [9]. In this case, a left ventricular hole of the defect larger than the aortic one caused the aneurysmal dilation of the tunnel. As the tunnel was located in immediate proximity to the RVOT, anterior to the aortic root, the aneurysmal dilation of the tunnel caused bulging of the septum into the right ventricle, which could explain the reversible mild RVOT obstruction. The coexisting anomaly of the aortic valve most likely has a common etiology with the tunnel, with both being
Heart Vessels
caused by a maldevelopment of the cushions, giving rise to the aortic root in the embryonic period. The coexistence of the two malformations together with the obstruction of the RVOT creates a very rare and interesting clinical picture in this case. However, as the valvular regurgitation associated with the bicuspid aortic valve was only mild, it did not require repair. Therefore the surgery consisted only of the repair of the tunnel, which led to the disappearance of the paravalvular aortic regurgitation, recovery of the left ventricular function, and regression of the RVOT obstruction. The differential diagnosis of an aorto-left ventricular tunnel includes ventricular septal defect, rupture of the sinus of Valsalva, and coronary artery–left ventricular fistula [10, 11]. The echocardiographic appearance of the tunnel shows many similarities with a subaortic ventricular septal defect, given the opening of the ventricular end of the tunnel in the subaortic region [12, 13]. In our case, the ventricular septal defect was excluded by the absence of any shunt or right ventricular overload. A ruptured sinus of Valsalva was excluded by the absence of a dilated sinus of Valsalva, and the coronary artery–ventricular fistula was excluded by the normal appearance of the coronary arteries. Interestingly, in this case the severe aortic paravalvular regurgitation within the tunnel was associated with a mild aortic valvular regurgitation caused by the bicuspid aortic valve. The coexistence of valvular and paravalvular aortic regurgitation can frequently lead to diagnostic errors, confounding the rare malformation (the tunnel) with the more frequent one (valvular regurgitation caused by the bicuspid aortic valve), especially when the regurgitant flow is eccentric and is visualized in apical views. The false attribution of the regurgitant flow within the tunnel to the regurgitation across the bicuspid valve leads not only to the missed diagnosis of the tunnel but also to overestimation of the severity of aortic valve disease. The optimal management of patients with an aortoventricular tunnel consists of early diagnosis followed by a prompt surgical repair. In the presence of a symptomatic newborn with left ventricular failure, echocardiographic examination should be performed as soon as possible [14]. However, owing to the very rare nature of this malformation, the tunnel remains unrecognized in many cases. Given the importance of immediate surgery for preventing evolution toward severe left ventricular failure, the examiners should search for this pathologic appearance in any fetus or
newborn with signs of aortic regurgitation. Furthermore, prenatal diagnosis could indicate the referral for delivery in a tertiary care center where all the necessary facilities for appropriate assistance, including cardiac surgery for an immediate postnatal surgical repair, are available.
References 1. McKay R, Anderson RH, Cook AH (2002) The aorto-ventricular tunnels. Cardiol Young 12:563–580 2. Levy MJ, Lillehei CW, Anderson RC, Amplatz K, Edwards JE (1963) Aortico-left ventricular tunnel. Circulation 27:841–853 3. Horvath P, Balaji S, Skovranek S, Hucin B, de Leval MR, Stark J (1991) Surgical treatment of aortico-left ventricular tunnel. Eur J Cardiothorac Surg 5:113–117 4. Mitropoulos FA, Laks H, Kanakis MA, Levi D (2006) Aorto-left ventricular tunnel: an alternative surgical approach. Ann Thorac Surg 82:1113–1115 5. Mori Y, Takahashi K, Nakanishi T (2013) Complications of cardiac catheterization in adults and children with congenital heart disease in the current era. Heart Vessels 28:352–359 6. Le Gloan L, Mongeon FP, Mercier LA, Dore A, Marcotte F, Ibrahim R, Asgar A, Miro J, Poirier N, Khairy P (2013) Tetralogy of Fallot and aortic root disease. Expert Rev Cardiovasc Ther 11:233–238 7. Nezafati MH, Maleki MH, Javan H, Zirak N (2010) Repair of aorto-left ventricular tunnel arising from the left sinus of Valsalva. J Card Surg 25:345–346 8. Singh SK, Dwivedi SK, Kumar A, Vijay SK, Rajput N, Devenraj V, Lal Sahni J (2012) Aneurysmal aorto-right ventricular tunnel. Ann Thorac Surg 93:e21–e22 9. Troubil M, Lonsky V, Petr S (2010) Aorto-left ventricular tunnel causing severe aortic regurgitation in adult man. Eur Heart J 31:145 10. Yoshino S, Minagoe S, Yu B, Kosedo I, Yamashita M, Ishizawa M, Kono M, Setoguchi M, Nakashima H, Matsuoka T, Suehiro S, Yotsumoto G, Yamashita M, Tei C (2013) Cardiac tamponade due to rupture of coronary artery fistula to the coronary sinus with giant aneurysm of coronary artery: usefulness of transthoracic echocardiography. Heart Vessels 28:536–540 11. Zanjani KS, Niwa K (2013) Aortic dilatation and aortopathy in congenital heart diseases. J Cardiol 61:16–21 12. Knott-Craig CJ, van der Merwe PL, Kalis NN, Hunter J (1992) Repair of aortico-left ventricular tunnel associated with subpulmonary obstruction. Ann Thorac Surg 52–54:557–559 13. Wei Y, Wang X, Zhang S, Hou L, Wang Y, Xu Y, Sun Q, Zhao H (2012) Transcatheter closure of perimembranous ventricular septal defects (VSD) with VSD occluder: early and mid-term results. Heart Vessels 27:398–404 14. McKay R (2007) Aorto-ventricular tunnel. Orphanet J Rare Dis 2:41
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