Supravalvular
Mitral Stenosis Associated
With
Tetralogy of Fallot
JAIME
BENREY,
MD
ROBERT
D.
LEACHMAN,
DENTON
A.
COOLEY,
MD,
MD,
TOMAS KLIMA, MD ROBERTO LUFSCHANOWSKI,
FACC
FACC MD,
FACC
Houston, Texas
The association of tetralogy of Fallot with supravalvular mitral stenosis is a rare anomaly that has been reported only once previously. The difficulty of preoperative diagnosis is emphasized. Although left-sided obstructive lesions in association with tetralogy of Fallot are rare, their recognition is imperative since these are surgically correctable anomalies and potentially lethal, as proved in this case and the one previously reported.
Supravalvular mitral stenosis is a rare congenital anomaly. The lesion may occur as an isolated malformation, but is frequently associated with other defects in the left side of the circulation such as patent ductus arteriosus and supravalvular aortic stenosis.’ Other rare associated lesions include double aortic arch, ventricular septal defect and pulmonary and tricuspid valve anomalies. The association with tetralogy of Fallot has been described only once.? We describe a second patient with such an association in whom failure to make the diagnosis of supravalvular mitral stenosis before operation contributed to the fatal outcome of the case. Case
From
the
Cardiology, Surgery and Pathology of St. Luke’s Episcopal Hospital, Texas. Manuscript accepted August
Departments
Houston, 28. 1974. Address for reprints: Roberto Lufschanowski, MD, St. Luke’s Eoiscooal Hosoital. P.O. Box 20269, Houston, Texas j7025. ’
Report
A 25 year old man from India was admitted to the Texas Heart Institute on November 1, 1973 with a history of a cardiac murmur since age 1 year. At age 12 years, cyanosis and clubbing were observed. Approximately 2 years before admission, he began to have shortness of breath at first with moderate exertion, later with minimal effort. At age 23 he had bacterial meningitis and 1 year later typhoid fever. On physical examination the patient appeared to be a thin, chronically ill cyanotic man in no acute distress. The pulse was regular, 108/min, and the blood pressure was 110/80 mm Hg. The jugular venous pressure was not increased. Carotid pulses were present. All central pulses had decreased amplitude. The lungs were clear to percussion and auscultation. The heart was not enlarged; the point of maximal impulse was in the fifth intercostal space at the mid-clavicular line. There was a right ventricular impulse. A grade 4/6 systolic ejection murmur was heard in the pulmonary area with a loud ejection click. The second heart sound was single and of diminished amplitude. There were no diastolic sounds or murmurs. The liver and the spleen were not palpable. There was severe perioral and distal cyanosis and clubbing of the fingers and toes. The electrocardiogram revealed sinus tachycardia (rate of llO/min), right axis deviation, right atria1 enlargement and right ventricular hypertrophy (Fig. 1). The chest roentgenogram (Fig. 2A) disclosed moderate cardiac enlargement with uptilting of the cardiac apex. The pulmonary vascular markines were decreased. k cardiac catheterization (Table I) the aortic oxygen saturation was 50 percent and the systemic venous oxygen saturation was 40 percent. The pulmonary arterial pressure was 10/2 mm Hg (mean 5 mm Hg). The foramen ovale was not patent. The right ventricular angiogram demonstrated filling of the aorta from the right ventricle with a left aortic arch, and there was severe pulmonary valve stenosis with infundibular obstruction as well. There was iich collateral circulation to the lungs after filling of the descending aorta. A
January
1976
The American Journal of CARDIOLOGY
Volume 37
111
SUPRAVALVULAR
MITRAL STENOSIS-BENREY
ET AL.
FIGURE 1. Electrocardiogram on admission.
FIGURE 2. Chest roentgenograms. A, on admission. B, postoperative.
hand injection in the pulmonary artery revealed a very slow flow with a washout effect primarily from the bronchial collateral vessels. The pulmonary artery was normal in size. Surgical correction of the tetralogy of Fallot was carried out on November 5, 1973. Pulmonary valvotomy was performed, the right ventricular outflow tract was partially re-
112
January 1976
The American Journal of CARDIOLOGY
sected and reconstructed with a Dacron’z’ patch, and the ventricular septal defect was closed with a knitted Dacron patch. No postoperative pressures in the cardiac chambers were recorded. The patient’s postoperative course was complicated by persistent systemic hypotension, increased central venous
Volume 37
~UPRAVALVUI_~
MITRAL
STEPJ~SIS-I~HJ~~EY
ET AL.
left atrial view of the supravalvular mitral valve is seen underneath. B, the left ventricle and left atrium have been opened, and the supravalvular ring is clearly seen. FIGURE
3.
A,
membrane. The
pressure and low cardiac output syndrome, which was unresponsive to vasopressor and inotropic agents. Postoperative chest roentgenogram revealed diffuse pulmonary edema (Fig. 2B) and the arterial blood gases showed persistent hypoxemia (partial pressure of oxygen [PO,] 32 mm Hg and partial pressure of carbon dioxide [PC021 38 mm Hg). The patient died on the 6th postoperative day.
TABLE
I
Hemodynamic
Data
02 Saturation Site
(%)
Pressures (mm Hg)
Superior vena cava Right atrium Right ventricle Pulmonary artery Aorta -
36 41 41 40 50
&ii (4) 100/O (6) 10/z (5) 100160 (78)
Values in parentheses
Indicate
mean pressures.
January
Autopsy Findings At autopsy, the heart weighed 350 g and measured 10.5 by 9 by 6 cm. The right side of the heart was enlarged and a Dacron patch overlay the right ventricular outflow tract. The right atrium was dilated, with a circumference of 10 cm. The right ventricle was markedly hypertrophic with an average wall diameter of 1.2 cm. The ventricular septal defect was closed with a 3 by 2.5 cm Dacron patch. The pulmonary truncus measured 4.5 cm in circumference. The left atrium was spacious with fibrous thickening of the endocardium. Above the mitral valve there was a circular diaphragm-like structure with an orifice 12 mm in diameter (Fig. 3). The mitral valve itself was normal. The left ventricular cavity was small; the average myocardial diameter was 9 mm. Microscopic examination of the heart revealed myocardial hypertrophy of the right ventricle and patchy necrosis in the vicinity of the resection of the right ventricular outflow tract. The supravalvular mitral ring had a rim of dense collagenous tissue at the inner aspect, almost identical to the collagen of the anulus of the mitral valve.
1976
The American
Journal of CARDIOLOGY
Volume
37
113
SUPRAVALVULAR
MITRAL
STENOSIS-BENREY
ET
AL.
Discussion The diagnosis of severe tetralogy of Fallot was correctly made preoperatively and, although the pulmonary flow was exceptionally low, this fact was attributed to the severity of the right ventricular outflow obstruction. There were no other clinical, electrocardiographic or radiographic clues to suspect mitral stenosis or even left atria1 enlargement. As in the case reported by Hohn et al.,” the foramen ovale was closed, thus preventing easy access to the left atrium and ventricle. The postoperative combination of arterial hypotension, poor tissue perfusion, severe hypoxemia and radiologic evidence of pulmonary edema were incorrectly attributed to two possible factors: (1)failure of a previously underdeveloped pulmonary vascular bed to accept a normal pulmonary flow, and (2) failure of a small left ventricle to accept a larger pulmonary venous return and maintain normal systemic output postoperatively. This second possibility, although rare in our experience, finds support in the work of Jarmakani et al.,” who frequently found left ventricular dysfunction during the postoperative hemodynamic evaluation of patients with tetralogy of Fallot. Mitral stenosis was obviously a more logical explanation but not readily suspected clinically because of its extreme rarity in association with tetralogy of Fallot. Ours is only the second known case of tetralogy of Fallot with supravalvular mitral stenosis, thus making this report worthwhile. In the absence of a patent foramen ovale the only direct approach to confirm the diagnosis is through transseptal catheterization of the left atrium. Echocardiography alone might be helpful in
suggesting a mitral valve abnormality if left atria1 enlargement is found, although echocardiographic demonstration of a supravalvular mitral ring has not been described to our knowledge. In severe tetralogy of Fallot, a decreased rate of left ventricular pressure filling may produce an abnormally slow mitral valve motion, requiring identification of normal motion of the posterior leaflet to rule out associated mitral valve stenosis. However, when a true pressure gradient is demonstrated by direct left atria1 and ventricular pressures, echocardiographic demonstration of a normal motion of the posterior mitral valve leaflet would suggest the presence of a supravalvular stenosing ring of the left atrium.” This case raises interest in the relationship between left atria1 and pulmonary arterial pressures and pulmonary flow; at high flow rates, the relation of pulmonary venous and pulmonary arterial pressures is linear,“,” but at very low flow rates, as in severe tetralogy of Fallot, a pulmonary arterial pressure of 10/2 mm Hg does not rule out the possibility of severe mitral stenosis. It is unfortunate that in the case of Hohn et al.” and in ours the diagnosis was made only at postmortem examination. In our case particularly a longer pump time and a more radical surgical approach to the mitral valve stenosis would have been well tolerated. Our case further illustrates the need for early recatheterization when pulmonary edema complicates the postoperative course of patients who have had total correction of tetralogy of Fallot. Although leftsided obstructive lesions are rare in association with tetralogy, accurate hemodynamic and angiographic diagnosis is imperative since these are surgically correctable anomalies.
References 1. Ansbtawl IN, Elllnron RO: Congenital stenosing rlng of the left atrloventrlcular canal. J Thorac Cardlovasc Surg 49:994-1005, 1965 2. Hohn AR, Jain KK, Tamer DM: Supravalvular mitral stenosis in a patient with tetralogy of Fallot. Am J Cardiol 22:733-737, 1968 3. Jarmakanl JM, Graham TP, Canent RV, et al: Left heart function in children with tetralogy of Fallot before and after palliative or corrective surgery. Circulation 46:478-490. 1972
114
January
1976
The American
Journal of CARDIOLOGY
4. Lundstrom NR, Elder I: Ultrasoundcardiography in infants and children. Acta Paediatr Stand 60: 117-l 28, 197 1 5. Hyman AL: Effects of large increase in pulmonary flow on pulmonary venous pressure. J Appl Physiol 27:179-185. 1969 6. Lloyd TC, Schneider AJL: Relation of pulmonary artery to pressure in the pulmonary venous system. J Appl Physiol 27:489497. 1969
Volume 37
Mitral Stenosis Associated
With
Tetralogy of Fallot
JAIME
BENREY,
MD
ROBERT
D.
LEACHMAN,
DENTON
A.
COOLEY,
MD,
MD,
TOMAS KLIMA, MD ROBERTO LUFSCHANOWSKI,
FACC
FACC MD,
FACC
Houston, Texas
The association of tetralogy of Fallot with supravalvular mitral stenosis is a rare anomaly that has been reported only once previously. The difficulty of preoperative diagnosis is emphasized. Although left-sided obstructive lesions in association with tetralogy of Fallot are rare, their recognition is imperative since these are surgically correctable anomalies and potentially lethal, as proved in this case and the one previously reported.
Supravalvular mitral stenosis is a rare congenital anomaly. The lesion may occur as an isolated malformation, but is frequently associated with other defects in the left side of the circulation such as patent ductus arteriosus and supravalvular aortic stenosis.’ Other rare associated lesions include double aortic arch, ventricular septal defect and pulmonary and tricuspid valve anomalies. The association with tetralogy of Fallot has been described only once.? We describe a second patient with such an association in whom failure to make the diagnosis of supravalvular mitral stenosis before operation contributed to the fatal outcome of the case. Case
From
the
Cardiology, Surgery and Pathology of St. Luke’s Episcopal Hospital, Texas. Manuscript accepted August
Departments
Houston, 28. 1974. Address for reprints: Roberto Lufschanowski, MD, St. Luke’s Eoiscooal Hosoital. P.O. Box 20269, Houston, Texas j7025. ’
Report
A 25 year old man from India was admitted to the Texas Heart Institute on November 1, 1973 with a history of a cardiac murmur since age 1 year. At age 12 years, cyanosis and clubbing were observed. Approximately 2 years before admission, he began to have shortness of breath at first with moderate exertion, later with minimal effort. At age 23 he had bacterial meningitis and 1 year later typhoid fever. On physical examination the patient appeared to be a thin, chronically ill cyanotic man in no acute distress. The pulse was regular, 108/min, and the blood pressure was 110/80 mm Hg. The jugular venous pressure was not increased. Carotid pulses were present. All central pulses had decreased amplitude. The lungs were clear to percussion and auscultation. The heart was not enlarged; the point of maximal impulse was in the fifth intercostal space at the mid-clavicular line. There was a right ventricular impulse. A grade 4/6 systolic ejection murmur was heard in the pulmonary area with a loud ejection click. The second heart sound was single and of diminished amplitude. There were no diastolic sounds or murmurs. The liver and the spleen were not palpable. There was severe perioral and distal cyanosis and clubbing of the fingers and toes. The electrocardiogram revealed sinus tachycardia (rate of llO/min), right axis deviation, right atria1 enlargement and right ventricular hypertrophy (Fig. 1). The chest roentgenogram (Fig. 2A) disclosed moderate cardiac enlargement with uptilting of the cardiac apex. The pulmonary vascular markines were decreased. k cardiac catheterization (Table I) the aortic oxygen saturation was 50 percent and the systemic venous oxygen saturation was 40 percent. The pulmonary arterial pressure was 10/2 mm Hg (mean 5 mm Hg). The foramen ovale was not patent. The right ventricular angiogram demonstrated filling of the aorta from the right ventricle with a left aortic arch, and there was severe pulmonary valve stenosis with infundibular obstruction as well. There was iich collateral circulation to the lungs after filling of the descending aorta. A
January
1976
The American Journal of CARDIOLOGY
Volume 37
111
SUPRAVALVULAR
MITRAL STENOSIS-BENREY
ET AL.
FIGURE 1. Electrocardiogram on admission.
FIGURE 2. Chest roentgenograms. A, on admission. B, postoperative.
hand injection in the pulmonary artery revealed a very slow flow with a washout effect primarily from the bronchial collateral vessels. The pulmonary artery was normal in size. Surgical correction of the tetralogy of Fallot was carried out on November 5, 1973. Pulmonary valvotomy was performed, the right ventricular outflow tract was partially re-
112
January 1976
The American Journal of CARDIOLOGY
sected and reconstructed with a Dacron’z’ patch, and the ventricular septal defect was closed with a knitted Dacron patch. No postoperative pressures in the cardiac chambers were recorded. The patient’s postoperative course was complicated by persistent systemic hypotension, increased central venous
Volume 37
~UPRAVALVUI_~
MITRAL
STEPJ~SIS-I~HJ~~EY
ET AL.
left atrial view of the supravalvular mitral valve is seen underneath. B, the left ventricle and left atrium have been opened, and the supravalvular ring is clearly seen. FIGURE
3.
A,
membrane. The
pressure and low cardiac output syndrome, which was unresponsive to vasopressor and inotropic agents. Postoperative chest roentgenogram revealed diffuse pulmonary edema (Fig. 2B) and the arterial blood gases showed persistent hypoxemia (partial pressure of oxygen [PO,] 32 mm Hg and partial pressure of carbon dioxide [PC021 38 mm Hg). The patient died on the 6th postoperative day.
TABLE
I
Hemodynamic
Data
02 Saturation Site
(%)
Pressures (mm Hg)
Superior vena cava Right atrium Right ventricle Pulmonary artery Aorta -
36 41 41 40 50
&ii (4) 100/O (6) 10/z (5) 100160 (78)
Values in parentheses
Indicate
mean pressures.
January
Autopsy Findings At autopsy, the heart weighed 350 g and measured 10.5 by 9 by 6 cm. The right side of the heart was enlarged and a Dacron patch overlay the right ventricular outflow tract. The right atrium was dilated, with a circumference of 10 cm. The right ventricle was markedly hypertrophic with an average wall diameter of 1.2 cm. The ventricular septal defect was closed with a 3 by 2.5 cm Dacron patch. The pulmonary truncus measured 4.5 cm in circumference. The left atrium was spacious with fibrous thickening of the endocardium. Above the mitral valve there was a circular diaphragm-like structure with an orifice 12 mm in diameter (Fig. 3). The mitral valve itself was normal. The left ventricular cavity was small; the average myocardial diameter was 9 mm. Microscopic examination of the heart revealed myocardial hypertrophy of the right ventricle and patchy necrosis in the vicinity of the resection of the right ventricular outflow tract. The supravalvular mitral ring had a rim of dense collagenous tissue at the inner aspect, almost identical to the collagen of the anulus of the mitral valve.
1976
The American
Journal of CARDIOLOGY
Volume
37
113
SUPRAVALVULAR
MITRAL
STENOSIS-BENREY
ET
AL.
Discussion The diagnosis of severe tetralogy of Fallot was correctly made preoperatively and, although the pulmonary flow was exceptionally low, this fact was attributed to the severity of the right ventricular outflow obstruction. There were no other clinical, electrocardiographic or radiographic clues to suspect mitral stenosis or even left atria1 enlargement. As in the case reported by Hohn et al.,” the foramen ovale was closed, thus preventing easy access to the left atrium and ventricle. The postoperative combination of arterial hypotension, poor tissue perfusion, severe hypoxemia and radiologic evidence of pulmonary edema were incorrectly attributed to two possible factors: (1)failure of a previously underdeveloped pulmonary vascular bed to accept a normal pulmonary flow, and (2) failure of a small left ventricle to accept a larger pulmonary venous return and maintain normal systemic output postoperatively. This second possibility, although rare in our experience, finds support in the work of Jarmakani et al.,” who frequently found left ventricular dysfunction during the postoperative hemodynamic evaluation of patients with tetralogy of Fallot. Mitral stenosis was obviously a more logical explanation but not readily suspected clinically because of its extreme rarity in association with tetralogy of Fallot. Ours is only the second known case of tetralogy of Fallot with supravalvular mitral stenosis, thus making this report worthwhile. In the absence of a patent foramen ovale the only direct approach to confirm the diagnosis is through transseptal catheterization of the left atrium. Echocardiography alone might be helpful in
suggesting a mitral valve abnormality if left atria1 enlargement is found, although echocardiographic demonstration of a supravalvular mitral ring has not been described to our knowledge. In severe tetralogy of Fallot, a decreased rate of left ventricular pressure filling may produce an abnormally slow mitral valve motion, requiring identification of normal motion of the posterior leaflet to rule out associated mitral valve stenosis. However, when a true pressure gradient is demonstrated by direct left atria1 and ventricular pressures, echocardiographic demonstration of a normal motion of the posterior mitral valve leaflet would suggest the presence of a supravalvular stenosing ring of the left atrium.” This case raises interest in the relationship between left atria1 and pulmonary arterial pressures and pulmonary flow; at high flow rates, the relation of pulmonary venous and pulmonary arterial pressures is linear,“,” but at very low flow rates, as in severe tetralogy of Fallot, a pulmonary arterial pressure of 10/2 mm Hg does not rule out the possibility of severe mitral stenosis. It is unfortunate that in the case of Hohn et al.” and in ours the diagnosis was made only at postmortem examination. In our case particularly a longer pump time and a more radical surgical approach to the mitral valve stenosis would have been well tolerated. Our case further illustrates the need for early recatheterization when pulmonary edema complicates the postoperative course of patients who have had total correction of tetralogy of Fallot. Although leftsided obstructive lesions are rare in association with tetralogy, accurate hemodynamic and angiographic diagnosis is imperative since these are surgically correctable anomalies.
References 1. Ansbtawl IN, Elllnron RO: Congenital stenosing rlng of the left atrloventrlcular canal. J Thorac Cardlovasc Surg 49:994-1005, 1965 2. Hohn AR, Jain KK, Tamer DM: Supravalvular mitral stenosis in a patient with tetralogy of Fallot. Am J Cardiol 22:733-737, 1968 3. Jarmakanl JM, Graham TP, Canent RV, et al: Left heart function in children with tetralogy of Fallot before and after palliative or corrective surgery. Circulation 46:478-490. 1972
114
January
1976
The American
Journal of CARDIOLOGY
4. Lundstrom NR, Elder I: Ultrasoundcardiography in infants and children. Acta Paediatr Stand 60: 117-l 28, 197 1 5. Hyman AL: Effects of large increase in pulmonary flow on pulmonary venous pressure. J Appl Physiol 27:179-185. 1969 6. Lloyd TC, Schneider AJL: Relation of pulmonary artery to pressure in the pulmonary venous system. J Appl Physiol 27:489497. 1969
Volume 37
