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Congenitally bicuspid aortic valve causing severe, pure aortic regurgitation without superimposed infective endocarditis
Congenitally Bicuspid Aortic Valve Causing Severe, Pure Aortic Regurgitation Without Superimposed Infective Endocarditis Analysis of 13 Patients Requiring Aottic Valve Replacement
WILLIAM C. ROBERTS, MD, FACC ANDREW G. MORROW, MD, FACC CHARLES L. MCINTOSH, MD MICHAEL JQNES, MD STEPHEN E. EPSTEIN, MD, FACC Bethesda, Maryland
From the Pathology, Surgery and Cardiology Branches, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland. Manuscript received August 4, 1980; revised manuscript received September 18, 1980; accepted September 18, 1980. Address for reprints: William C. Roberts, MD. Building lOA, Room 3E-30, National Institutes of Health, Bethesda, Maryland 20205.
206
February 1961
Although stenosis and infective endocarditis are commonly appreciated complications of the congenitally bicuspid aortic valve, pure severe aortic regurgitatlon complicating this congenital malformation, unassociated with either stenosis or infection, is not well recognized. Among 189 patients who had aortic valve replacement at the National Heart, Lung, and Blood Institute because of isolated pure aortic regurgitation, the congenitally bicuspid aortic valve, never the site of infective endocarditis, was responsible for the aortic regurgitation in 13 (7 percent). This report describes certain clinical and morphologic findings in 13 men, aged 28 to 85 years (mean 43), who required aortic valve replacement because of severe aortic regurgitation secondary to a noninfected, nonstenotic congenitally bicuspid aortic valve. Although not generally recognized, the noninfected congenitally bicuspid aortic valve is an important cause of pure aortic regurgitation severe enough to warrant aortic valve replacement.
The congenitally bicuspid aortic valve frequently becomes stenotic, and because most stenotic valves are also regurgitant, the most frequent circumstance in which aortic regurgitation is found with this congenital anomaly is in association with aortic valve stenosis.l In this situation the aortic regurgitation is usually of only mild or moderate degree. Also, the congenitally bicuspid aortic valve is often the site of infective endocarditis.l Although it may be superimposed on a stenotic congenitally bicuspid aortic valve, infective endocarditis far more commonly involves the previously normally functioning bicuspid valve or the one previously only slightly regurgitant. I92The usual consequence of the infection in this circumstance is severe pure aortic regurgitation. Mild degrees of pure aortic regurgitation also are commonly observed in patients with a congenitally bicuspid aortic valve and elevated pressure in the ascending aorta from associated aortic isthmic coarctation. However, seuere aortic regurgitation due to a nonstenotic and noninfected congenitally bicuspid aortic valve is believed to be decidedly infrequent and, indeed, no reports, to our knowledge, have focused specifically on this complication of the bicuspid valve condition. In this report, we describe observations in 13 men who underwent aortic valve replacement because of severe pure aortic regurgitation unassociated with aortic valve stenosis or infective endocarditis. Clinical
Features
of Patients
Clinical findings (Table I): At the time of aortic valve replacement, the ages of the 13 men studied ranged from 26 to 65 years (mean 43).
Preoperatively, one patient had been in functional class I (New York Heart Association classification3), three patients in class II, eight in class III and one in class IV. The one patient who was asymptomatic preop-
The American Journal of CARDIOLOGY
Volume 47
BICUSPID AORTIC VALVE WITH REGURGITATION-ROBERTS
ET AL.
TABLE I Clinical and Operative Observations in 13 Men WithAortlc Valve Replacement for Pure Severe Aortic Regurgitation and Noninfected Congenltally Blcuspld Aortlc Valve Pressures (s/d) (mm Hg)
Age (yr)
SA
Site of AV cusps
AV Raphe
AV Ca++
125125 150124
125154 150760
A-P R-L
-t t
0
1.2
;;
200132 135/l 1
235170 160/55
A-P ?
8
A::
:; 11
3’::
200132 118/6
200180 118152
R-L
-!
+8
2.9 0.7
4t 49 56
20 :“o 2’1
4:
170/60 130/50 120158 17Of75 165172
;I:: ? R-L R-L A-P
-I:I
44 ;7
170112 12577 11815 160114 165117
-k 1:
! 0 !
z.2 1.5 1.8 1.4
65 :;
t8
6”:
138136 155/7
160/53 155155
i-L
3 -I-
:
2.3 1.7
Age (yr) at AVR
Age (yr) M First Heard
Onset of Cardiac Symptoms
LV
:
zt
17 13
20 21
!
::
6
:
30 40
: 9 ::
;:
Case
AV wt (9)
A = anterior: AV = aortic valve: AVR = aortic valve replacement: Ca++ = calcium; L = left; LV = left ventricle; M = murmur; P = posterior; R = right: SA = systemic artery: s/d = peak systole/enddiastole; Wt = weight: ? = not known; + = present or positive; 0 = absent or negative.
eratively underwent aortic valve replacement because of severe aortic regurgitation associated with a dilated left ventricular cavity4 (left ventricular end-systolic cavity dimension on echocardiogram = 56 mm). None of the 13 patients at any time had had clinical evidence of either active infective endocarditis or acute rheumatic fever. A precordial murmur had been heard for the first time initially as early as age 6 years to as late as age 60 years (mean 23). By auscultation, all 13 patients had grade 3-5/6 murmurs typical of aortic regurgitation, and by aortic root angiograms the degree of aortic regurgitation was graded in each as either 3+/4+ or 4+/4+. The direct aortic diastolic pressures preoperatively ranged from 45 to 80 mm Hg (mean 61). All 13 patients also had basal precordial systolic murmurs, but at catheterization none had a peak systolic pressure gradient between the left ventricle and a major systemic artery or on pullback from the left ventricle to the aorta. Precordial ejection sounds were absent in all 13patients. Aortic root angiograms were obtained in all patients, but the bicuspid condition of the aortic valve could not be established by this method. Also, the bicuspid nature of the valve was not recognized in any of the seven patients who had echocardiograms. Three patients (Cases 3,4 and 6) had aortic isthmic coarctation, with a peak systolic pressure gradient across the coarctation of 70,50 and 70 mm Hg, respectively. One (Patient 1) had a right aortic arch. No patient had evidence of mitral regurgitation. The father of Patient 2 had had aortic valve replacement because of a stenotic (60 mm Hg peak systolic pressure gradient) congenitally bicuspid aortic valve. Surgical and morphologic findings: At aortic valve replacement, only two aortic valve cusps were identified in each of the 13 patients (Fig. 1 to 4). In 10 valves, a
FIGURE 1. Aortic valve in Case 1. The fibrous band on the right cusp (below) was attached to the wall of the ascending aorta as shown in the diagram (above).
February 1981
The American Journal of CARDIOLOGY
Volume 47
207
BICUSPID AORTIC VALVE WITH REGURGITATION-ROBERTS ET AL
FIGURE 3. Aortic valve in Case 8 (left), Case 9 (middle) and Case 13 (right). The orientation of the cusps is uncertain in Case 8: calcium is present in the raphe in the larger cusp. In both Case 9 and Case 13, the larger cusp is the right one, and the smaller cusp, the left one.
congenital raphe (false commissure) was identified. Each cusp of all 13 aortic valves was thickened by fibrous tissue; no cusp contained vegetations or perforations, indentations, or other evidences of healed infective endocarditis.5 Calcific deposits, all small, were present in 5 of the 13 excised aortic valves; the deposits in 3 were limited to the raphes. Comments
FIGUF ?E 4. Aortic valve in Case 12. The orientation of the two cusps in this patient is not known. The raphe is calcified.
208
February 1981
The American Journal of CARDIOLOGY
Frequency at necropsy of pure regurgitation in bicuspid aortic valve: Each of the 13 patients had aortic regurgitation severe enough to require aortic valve replacement, and at operation each was found to have a congenitally bicuspid aortic valve that neither was stenotic nor had evidence of past infective endocarditis. Furthermore, no patient had had a past clinical illness compatible with active infective endocarditis. Among the complications of a congenitally bicuspid aortic valve, pure severe aortic regurgitation unrelated to infective endocarditis is the least common. Among 200 patients
Volume 47
BICUSPID AORTIC VALVE WITH REGUFKITATION-ROBERTS ET AL.
over age 15 years with a congenitally bicuspid aortic valve studied by one of us (W.C.R.) at necropsy, only 3 had pure severe aortic regurgitation unassociated with infective endocarditis.’ Of the 200 necropsy patients, however, 179 had some degree of aortic regurgitation, but it was associated with aortic valve stenosis in 157 and was the result of infective endocarditis in 19; in the remaining 21 patients the bicuspid valve functioned normally. Of 152 necropsy patients with a congenitally bicuspid aortic valve reported on by Fenoglio et al.,” 4 apparently had pure aortic regurgitation without evidence of infective endocarditis; however, the severity of the aortic regurgitation in their patients was not stated. Frequency of congenitally bicuspid valve in pure aortic regurgitation (operative experience): Although the two studies cited provide some information on the frequency of pure aortic regurgitation unassociated with infective endocarditis among necropsy patients with a congenitally bicuspid aortic valve, no information is available concerning the frequency of the congenitally bicuspid aortic valve unassociated with infective endocarditis among patients with pure severe aortic regurgitation. Accordingly, we reviewed the clinical and operative records and the excised aortic valves in 189 patients aged 18 to 70 years who had aortic valve replacement at the National Heart, Lung, and Blood Institute from 1963 to 1979 because of isolated (unassociated with dysfunction of another cardiac valve) pure (no element of valve stenosis) aortic regurgitation (Table II). In 13 (7 percent) of the 189 patients the aortic regurgitation was the result of a congenitally bicuspid aortic valve that was not and had
TABLE
II
Etiology of Isolated Pure Aortic Regurgitation Patients Aged 18 to 70 Years Having Aortic Valve Replacement
in 189
Patients Cause l
::*
3. 4.’ 5.’ 6. :: 9.’
10. Total
Rheumatic Infective endocarditis Bicuspid (n = 7) Tricuspid (n = 34) Marfan and Marfan-type Congenital (bicuspid valve) Prolapse from ventricular septal defect Syphilis Aortic dissection Ankylosing spondylitis With subaortic stenosis Discrete subaortic stenosis (n = 1) Hypertrophic cardiomyopathy (n = 1) Trauma
n
%
94 41
49 22
15 13 10 9
: 5 5
2’ 7 4 .__21 1
189
._^
100
Aortic regurgitation resulted from abnormality of the aortic valve only and not from abnormality of the aorta. l
not been the site of infective endocarditis. In contrast to the 13 patients that form the basis of this report, only 7 patients (among the 189) had pure aortic regurgitation because of infective endocarditis involving a congenitally bicuspid aortic valve. Thus, the congenitally bicuspid aortic valve unaffected by infective endocarditis is an important cause of pure aortic regurgitation severe enough to warrant aortic valve replacement.
References Roberts WC. The congenitally bicuspid aortic valve. A study of 85 autopsy cases. Am J Cardiol 1960;23:72-83. Roberts WC. Characteristics and consequences of infective endocarditis (active or healed or both) learned from morphologic studies. In: Rahimtoola SH, ed. Infective Endocarditis. New York; Grune & Stratton, 1978;55-123. Criteria Committee of the New York Heart Association. Nomenclature and Criteria for Diseases of the Heart and Great Vessels. 8th ed. Boston: Little, Brown, 1979:349.
4. Henry WL, Bonow RO, Rosing DR, Epstein SE. Observations on the optimum time for operative intervention for aortic regurgitation. II. Serial echocardiographic evaluation of asymptomatic patients. Circulation 1980;61:484-92. 5. Roberts WC, Buchblnder NA. Healed left-sided infective endocarditis: a clinicopathologic study of 59 patients. Am J Cardiol 1977; 40:876-88. 6. Fenoglio JJ, McAllister HA, DeCastro CM. The congenital bicuspid aortic valve after age 20. Am J Cardiol 1977;39:164-9.
February 1981
The American Journal of CARDIOLOGY
Volume 47
209
WILLIAM C. ROBERTS, MD, FACC ANDREW G. MORROW, MD, FACC CHARLES L. MCINTOSH, MD MICHAEL JQNES, MD STEPHEN E. EPSTEIN, MD, FACC Bethesda, Maryland
From the Pathology, Surgery and Cardiology Branches, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland. Manuscript received August 4, 1980; revised manuscript received September 18, 1980; accepted September 18, 1980. Address for reprints: William C. Roberts, MD. Building lOA, Room 3E-30, National Institutes of Health, Bethesda, Maryland 20205.
206
February 1961
Although stenosis and infective endocarditis are commonly appreciated complications of the congenitally bicuspid aortic valve, pure severe aortic regurgitatlon complicating this congenital malformation, unassociated with either stenosis or infection, is not well recognized. Among 189 patients who had aortic valve replacement at the National Heart, Lung, and Blood Institute because of isolated pure aortic regurgitation, the congenitally bicuspid aortic valve, never the site of infective endocarditis, was responsible for the aortic regurgitation in 13 (7 percent). This report describes certain clinical and morphologic findings in 13 men, aged 28 to 85 years (mean 43), who required aortic valve replacement because of severe aortic regurgitation secondary to a noninfected, nonstenotic congenitally bicuspid aortic valve. Although not generally recognized, the noninfected congenitally bicuspid aortic valve is an important cause of pure aortic regurgitation severe enough to warrant aortic valve replacement.
The congenitally bicuspid aortic valve frequently becomes stenotic, and because most stenotic valves are also regurgitant, the most frequent circumstance in which aortic regurgitation is found with this congenital anomaly is in association with aortic valve stenosis.l In this situation the aortic regurgitation is usually of only mild or moderate degree. Also, the congenitally bicuspid aortic valve is often the site of infective endocarditis.l Although it may be superimposed on a stenotic congenitally bicuspid aortic valve, infective endocarditis far more commonly involves the previously normally functioning bicuspid valve or the one previously only slightly regurgitant. I92The usual consequence of the infection in this circumstance is severe pure aortic regurgitation. Mild degrees of pure aortic regurgitation also are commonly observed in patients with a congenitally bicuspid aortic valve and elevated pressure in the ascending aorta from associated aortic isthmic coarctation. However, seuere aortic regurgitation due to a nonstenotic and noninfected congenitally bicuspid aortic valve is believed to be decidedly infrequent and, indeed, no reports, to our knowledge, have focused specifically on this complication of the bicuspid valve condition. In this report, we describe observations in 13 men who underwent aortic valve replacement because of severe pure aortic regurgitation unassociated with aortic valve stenosis or infective endocarditis. Clinical
Features
of Patients
Clinical findings (Table I): At the time of aortic valve replacement, the ages of the 13 men studied ranged from 26 to 65 years (mean 43).
Preoperatively, one patient had been in functional class I (New York Heart Association classification3), three patients in class II, eight in class III and one in class IV. The one patient who was asymptomatic preop-
The American Journal of CARDIOLOGY
Volume 47
BICUSPID AORTIC VALVE WITH REGURGITATION-ROBERTS
ET AL.
TABLE I Clinical and Operative Observations in 13 Men WithAortlc Valve Replacement for Pure Severe Aortic Regurgitation and Noninfected Congenltally Blcuspld Aortlc Valve Pressures (s/d) (mm Hg)
Age (yr)
SA
Site of AV cusps
AV Raphe
AV Ca++
125125 150124
125154 150760
A-P R-L
-t t
0
1.2
;;
200132 135/l 1
235170 160/55
A-P ?
8
A::
:; 11
3’::
200132 118/6
200180 118152
R-L
-!
+8
2.9 0.7
4t 49 56
20 :“o 2’1
4:
170/60 130/50 120158 17Of75 165172
;I:: ? R-L R-L A-P
-I:I
44 ;7
170112 12577 11815 160114 165117
-k 1:
! 0 !
z.2 1.5 1.8 1.4
65 :;
t8
6”:
138136 155/7
160/53 155155
i-L
3 -I-
:
2.3 1.7
Age (yr) at AVR
Age (yr) M First Heard
Onset of Cardiac Symptoms
LV
:
zt
17 13
20 21
!
::
6
:
30 40
: 9 ::
;:
Case
AV wt (9)
A = anterior: AV = aortic valve: AVR = aortic valve replacement: Ca++ = calcium; L = left; LV = left ventricle; M = murmur; P = posterior; R = right: SA = systemic artery: s/d = peak systole/enddiastole; Wt = weight: ? = not known; + = present or positive; 0 = absent or negative.
eratively underwent aortic valve replacement because of severe aortic regurgitation associated with a dilated left ventricular cavity4 (left ventricular end-systolic cavity dimension on echocardiogram = 56 mm). None of the 13 patients at any time had had clinical evidence of either active infective endocarditis or acute rheumatic fever. A precordial murmur had been heard for the first time initially as early as age 6 years to as late as age 60 years (mean 23). By auscultation, all 13 patients had grade 3-5/6 murmurs typical of aortic regurgitation, and by aortic root angiograms the degree of aortic regurgitation was graded in each as either 3+/4+ or 4+/4+. The direct aortic diastolic pressures preoperatively ranged from 45 to 80 mm Hg (mean 61). All 13 patients also had basal precordial systolic murmurs, but at catheterization none had a peak systolic pressure gradient between the left ventricle and a major systemic artery or on pullback from the left ventricle to the aorta. Precordial ejection sounds were absent in all 13patients. Aortic root angiograms were obtained in all patients, but the bicuspid condition of the aortic valve could not be established by this method. Also, the bicuspid nature of the valve was not recognized in any of the seven patients who had echocardiograms. Three patients (Cases 3,4 and 6) had aortic isthmic coarctation, with a peak systolic pressure gradient across the coarctation of 70,50 and 70 mm Hg, respectively. One (Patient 1) had a right aortic arch. No patient had evidence of mitral regurgitation. The father of Patient 2 had had aortic valve replacement because of a stenotic (60 mm Hg peak systolic pressure gradient) congenitally bicuspid aortic valve. Surgical and morphologic findings: At aortic valve replacement, only two aortic valve cusps were identified in each of the 13 patients (Fig. 1 to 4). In 10 valves, a
FIGURE 1. Aortic valve in Case 1. The fibrous band on the right cusp (below) was attached to the wall of the ascending aorta as shown in the diagram (above).
February 1981
The American Journal of CARDIOLOGY
Volume 47
207
BICUSPID AORTIC VALVE WITH REGURGITATION-ROBERTS ET AL
FIGURE 3. Aortic valve in Case 8 (left), Case 9 (middle) and Case 13 (right). The orientation of the cusps is uncertain in Case 8: calcium is present in the raphe in the larger cusp. In both Case 9 and Case 13, the larger cusp is the right one, and the smaller cusp, the left one.
congenital raphe (false commissure) was identified. Each cusp of all 13 aortic valves was thickened by fibrous tissue; no cusp contained vegetations or perforations, indentations, or other evidences of healed infective endocarditis.5 Calcific deposits, all small, were present in 5 of the 13 excised aortic valves; the deposits in 3 were limited to the raphes. Comments
FIGUF ?E 4. Aortic valve in Case 12. The orientation of the two cusps in this patient is not known. The raphe is calcified.
208
February 1981
The American Journal of CARDIOLOGY
Frequency at necropsy of pure regurgitation in bicuspid aortic valve: Each of the 13 patients had aortic regurgitation severe enough to require aortic valve replacement, and at operation each was found to have a congenitally bicuspid aortic valve that neither was stenotic nor had evidence of past infective endocarditis. Furthermore, no patient had had a past clinical illness compatible with active infective endocarditis. Among the complications of a congenitally bicuspid aortic valve, pure severe aortic regurgitation unrelated to infective endocarditis is the least common. Among 200 patients
Volume 47
BICUSPID AORTIC VALVE WITH REGUFKITATION-ROBERTS ET AL.
over age 15 years with a congenitally bicuspid aortic valve studied by one of us (W.C.R.) at necropsy, only 3 had pure severe aortic regurgitation unassociated with infective endocarditis.’ Of the 200 necropsy patients, however, 179 had some degree of aortic regurgitation, but it was associated with aortic valve stenosis in 157 and was the result of infective endocarditis in 19; in the remaining 21 patients the bicuspid valve functioned normally. Of 152 necropsy patients with a congenitally bicuspid aortic valve reported on by Fenoglio et al.,” 4 apparently had pure aortic regurgitation without evidence of infective endocarditis; however, the severity of the aortic regurgitation in their patients was not stated. Frequency of congenitally bicuspid valve in pure aortic regurgitation (operative experience): Although the two studies cited provide some information on the frequency of pure aortic regurgitation unassociated with infective endocarditis among necropsy patients with a congenitally bicuspid aortic valve, no information is available concerning the frequency of the congenitally bicuspid aortic valve unassociated with infective endocarditis among patients with pure severe aortic regurgitation. Accordingly, we reviewed the clinical and operative records and the excised aortic valves in 189 patients aged 18 to 70 years who had aortic valve replacement at the National Heart, Lung, and Blood Institute from 1963 to 1979 because of isolated (unassociated with dysfunction of another cardiac valve) pure (no element of valve stenosis) aortic regurgitation (Table II). In 13 (7 percent) of the 189 patients the aortic regurgitation was the result of a congenitally bicuspid aortic valve that was not and had
TABLE
II
Etiology of Isolated Pure Aortic Regurgitation Patients Aged 18 to 70 Years Having Aortic Valve Replacement
in 189
Patients Cause l
::*
3. 4.’ 5.’ 6. :: 9.’
10. Total
Rheumatic Infective endocarditis Bicuspid (n = 7) Tricuspid (n = 34) Marfan and Marfan-type Congenital (bicuspid valve) Prolapse from ventricular septal defect Syphilis Aortic dissection Ankylosing spondylitis With subaortic stenosis Discrete subaortic stenosis (n = 1) Hypertrophic cardiomyopathy (n = 1) Trauma
n
%
94 41
49 22
15 13 10 9
: 5 5
2’ 7 4 .__21 1
189
._^
100
Aortic regurgitation resulted from abnormality of the aortic valve only and not from abnormality of the aorta. l
not been the site of infective endocarditis. In contrast to the 13 patients that form the basis of this report, only 7 patients (among the 189) had pure aortic regurgitation because of infective endocarditis involving a congenitally bicuspid aortic valve. Thus, the congenitally bicuspid aortic valve unaffected by infective endocarditis is an important cause of pure aortic regurgitation severe enough to warrant aortic valve replacement.
References Roberts WC. The congenitally bicuspid aortic valve. A study of 85 autopsy cases. Am J Cardiol 1960;23:72-83. Roberts WC. Characteristics and consequences of infective endocarditis (active or healed or both) learned from morphologic studies. In: Rahimtoola SH, ed. Infective Endocarditis. New York; Grune & Stratton, 1978;55-123. Criteria Committee of the New York Heart Association. Nomenclature and Criteria for Diseases of the Heart and Great Vessels. 8th ed. Boston: Little, Brown, 1979:349.
4. Henry WL, Bonow RO, Rosing DR, Epstein SE. Observations on the optimum time for operative intervention for aortic regurgitation. II. Serial echocardiographic evaluation of asymptomatic patients. Circulation 1980;61:484-92. 5. Roberts WC, Buchblnder NA. Healed left-sided infective endocarditis: a clinicopathologic study of 59 patients. Am J Cardiol 1977; 40:876-88. 6. Fenoglio JJ, McAllister HA, DeCastro CM. The congenital bicuspid aortic valve after age 20. Am J Cardiol 1977;39:164-9.
February 1981
The American Journal of CARDIOLOGY
Volume 47
209