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The occurrence of mild coarctation of the aorta (pseudocoarctation) and coarctation in one family
The occurrence (pseudocoarctation)
of mild
coarctation
and
of the aorta
coarctation
in one
family
Howard I. Keller, Captain, MC, USA Melvin D. Cheitlin, Major, MC, USA Tacoma, Wash.
D
otter and Steinberg,’ in 1951, first described an anomaly of the aortic arch which they subsequently termed “pseudocoarctation.” The malformation described consisted of constriction of the aortic isthmus with or without poststenotic dilatation of the descending aorta in the absence of evidence of hemodynamic compromise of the aortic lumen. There was, therefore, no difference in blood pressure between the upper and lower extremities, no collateral arterial circulation, no ribnotching, and no hypertension. The number of cases subsequently reported exceeds fifty. Various terms have been used to describe the condition : kinking, buckling, “formes frustes” coarctation, and subclinical coarctation.2-4 The purpose of this paper is to report the occurrence of mild coarctation (pseudocoarctation) and coarctation (true) in two brothers. Our preference for the term “mild coarctation” shall be explained. Ca’se histories A. The patient, W. B., was a 32-year-old Caucasian male in whom an abnormality of the aortic arch had been discovered on a chest x-ray film taken during an episode of pneumonia at age 31. He denied symptoms referable to the cardiovascular system, although he did note that his legs easily
became fatigued upon exertion. Physical examination disclosed the following blood pressures by cuff: right arm, 120/80 mm. Hg; left arm, 125/85 mm. Hg; right leg, 160/100 mm. Hg; left leg, 140/105 mm. Hg. The point of maximum impulse of the heartbeat was found in the fifth intercostal space at the mid-clavicular line. A Grade 2/6 systolic murmur was best heard in the second left intercostal space, and a Grade l/6 systolic murmur was heard posteriorly at the tip of the left scapula. The aortic second sound was louder than the pulmonic second sound. The femoral pulses were full and equal to each other and greater than the radial pulses. Chest films showed an indentation in the descending aorta, and a double indentation of the barium-filled esophagus (Figs. 1 and 2). An electrocardiogram showed complete right bundle branch block. Retrograde femoral artery catheterization indicated no pressure gradient across the area of constriction (Fig. 3). The constriction was well seen in the descending aorta after the injection of 75 per cent Hypaque (Fig. 4). The diagnosis was mild coarctation of the aorta. B. The patient’s brother, R.B.,* came under medical care in 1961, at the age of 28, upon complaint of dyspnea, fatigability, and headaches. Hypertension had been discovered 7 months previously. Physical examination disclosed decreased femoral pulsations, chest films indicated notching of the ribs, and catheterization substantiated the diagnosis of coarctation of the aorta. Direct manometric pressure was 180/100 mm. Hg in the brachial artery, and 110/90 mm. Hg in the femoral artery. The electrocardiogram revealed left ventricular hypertrophy. On Aug. 30, 1961, a large postductile coarctation of the aorta was found at operation. Resection was successfully accomplished, and the
From the Department of Medicine, Madigan General Hospital, Tacoma, Received for publication Aug. 7. 1964. *The patient was cared for by Dr. Joseph J. Garamella. of Minneapolis, the case history available.
115
Wash. Minn..
whom
we wish
to thank
for making
116
Am. Hcort 3. rulJ. 1965
Keller and Cheitlin
specimen showed a complete diaphragm at the level of the coarctation. Postoperative blood pressures were 178/90 mm. Hg in the right arm, and 174/120 mm. Hg in the popliteal area. Seventeen months postoperatively the blood pressure in the right arm was 184/100 mm. Hg, and the pressure in the popliteal area was 160/110 mm. Hg. A bruit was heard in the right subcostal area, and further study was advised in order to investigate the possibility of renal artery stenosis underlying the persisting hypertension. The patient did not return, however. Examination of W. B.‘s three male children, ages 2, 5, and 7, revealed no abnormality, and their chest films and electrocardiograms were normal. It is of some interest that W.B.‘s mother died in her early thirties of an unknown heart condition; an autopsy was not performed. The patient’s two sisters, ages 32 and 34, were examined and had electrocardiograms and chest x-ray films that showed no abnormality.
Discussion
Fig. 1. Lateral the descending
chest aorta.
film
showing
indentation
of
Fig. 2. Posteroanterior chest film showing indentatation of the descending aorta (arrow) and double indentation of the barium-filled esophagus.
The distinction between coarctation and mild coarctation of the aorta anatomically is based upon the degree to which the aortic isthmus is constricted. Physiologically, the distinction is based upon the presence or absence of a pressure gradient across the compromised area. Gupta and Wiggers5 determined that distal pressure does not significantly fall until the lumen of the stenotic segment is reduced to approximately 45 to 5.5 per cent of the crosssectional area of the proximal aorta. In a review of autopsy specimens, Edmunds and associates* found all graduations of stenosis from mild to complete atresia. The finding of a difference in pressure between the upper and lower extremities, increased collateral arterial circulation, rib-notching, and the hypertension observed in coarctation of the aorta occur when there is more than a critical degree of occlusion of the lumen. Pulse pressure in the renal arteries has been thought to be an important factor in the causation of hypertension.6 A degree of constriction sufkient to decrease distal aortic pressure is not present in mild coarctation. There may well be turbulence of flow, as attested to by the murmur which is frequently present. Gupta5 has found, in animal experiments, that murmurs can occur before demonstrable differences in pressure are observed. Turbulence of flow may, in addition to causing the murmur, lead to the development of poststenotic dilatation.
Pseudocoarctation
Fig. 3. Pressure tracing area of constriction.
of retrograde
Fig. 4. Aortogram showing constriction scending aorta (75 per cent Hypaque).
femoral
in the
artery
de-
It has previously been suggested by Steinberg’ that the two forms of coarctation are embryologically closely related. There are striking similarities between the two forms, including the location of the constriction, the presence and characteristics of the murmurs, radiographic and the presence of postappearances, stenotic dilatation. The occurrence of right bundle branch block is frequently noted in cases of coarctation, having been found by Ziegler* in 11 of 26 instances, and by Kjellberg and associates9 in 17 of 53 instances. In view of this association, it is interesting to note that our patient with
and true coarctation
catheterization,
showing
of
117
aorta in siblings
no pressure
gradient
across
the
mild coarctation was found to have complete right bundle branch block. Accompanying cardiac anomalies have been reported with frequency in both forms. Steinberg lo has described bicuspid aortic valve, aortic stenosis, aneurysm of the sinus of Valsalva, dextrorotation, and corrected ‘transposition in patients with pseudocoarctation (mild coarctation). Campbell and Polani” in a series of 151 patients with coarctation of the aorta discovered 6 with aortic stenosis and 12 with malformations of a varied nature, an incidence twelvefold that predicted by chance alone. These authors also found a 7 per cent incidence of noncardiac malformations. The familial incidence of coarctation has been commented upon by Campbell and Polani. In their series,ll two sisters were found to have the lesion, and in other reports cited are instances comprising mother, son, and daughter, father and son, two brothers, and brother and sister. The occurrence of mild coarctation and coarctation in siblings has not, to our knowledge, been previously reported. This finding would seem to favor a distinct genetic proclivity and similar embryologic mechanism in both forms of aortic coarctation. We believe that they differ in their manifestations only by virtue of the difference in the degree to which they constrict the aortic lumen. Therefore, we prefer the terminology “mild coarctation” Coarctation refers to and “coarctation.” that form characterized by proximal aortic hypertension and diminished distal aortic pressure discoverable by decreased pulsation of the femoral artery. Mild coarctation, on the other hand, may be discovered only radiologically and perhaps by the presence of a murmur.
118
Keller and Cheitlin
REFERENCES 1.
2. 3.
Dotter, C., and Steinberg, I.: Angiocardiography, New York, 1951, Paul B. Hoeber, Inc., p. 181. DiGuglielmo, G.: Kinking of the aorta, Acta radiol. 44:121, 1955. Stevens, G. M.: Buckling of the aorta, Radiol-
ogy70:67,1958. 4. Edmunds, L. H., Jr., McClenathan,
j. E., and Hufnagel, C. A.: Subclinical coarctation of the aorta, Ann. Surg. 156:180, 1962. T. C., and Wiggers, C. J.: Basic hemo5. Gupta, dynamic changes produced by aortic coarctation of different degrees, Circulation 3:17, 1951. 6. Timmis, G. C., and Gordon, S.: A renal factor in hypertension due to coarctation of the aorta: preliminary observations, New England J. Med. 270:814,1964.
Am. Heart J. July, 1965
7. Steinberg, I.: Anomalies (pseudocoarctation) of the arch of the aorta-Report of eight new and review of eight previously published cases, Am. J. Roentgenol. 88:73, 1962. 8. Ziegler, R. F.: The genesis and importance of the electrocardiogram in coarctation of the aorta, Circulation 9:371, 1954. 9. Kjellberg, S. R., Mannheimer, E., Rudhe, V., and Jonson, B.: Diagnosis of congenital heart disease, ed. 2, Chicago, 1959, The Year Book Publishers, Inc., 1959, p. 590. 10. Steinberg, I., and Hogstrom, J. W. C.: Congenital aortic valvular stenosis and pseudocoarctation (“kinking, buckling”) of the arch of the aorta, Circulation 15:545, 1962. 11. Campbell, M., and Polani, P. E.: Etiological factors in coarctation of the aorta, Lancet 1:463, 1961.
of mild
coarctation
and
of the aorta
coarctation
in one
family
Howard I. Keller, Captain, MC, USA Melvin D. Cheitlin, Major, MC, USA Tacoma, Wash.
D
otter and Steinberg,’ in 1951, first described an anomaly of the aortic arch which they subsequently termed “pseudocoarctation.” The malformation described consisted of constriction of the aortic isthmus with or without poststenotic dilatation of the descending aorta in the absence of evidence of hemodynamic compromise of the aortic lumen. There was, therefore, no difference in blood pressure between the upper and lower extremities, no collateral arterial circulation, no ribnotching, and no hypertension. The number of cases subsequently reported exceeds fifty. Various terms have been used to describe the condition : kinking, buckling, “formes frustes” coarctation, and subclinical coarctation.2-4 The purpose of this paper is to report the occurrence of mild coarctation (pseudocoarctation) and coarctation (true) in two brothers. Our preference for the term “mild coarctation” shall be explained. Ca’se histories A. The patient, W. B., was a 32-year-old Caucasian male in whom an abnormality of the aortic arch had been discovered on a chest x-ray film taken during an episode of pneumonia at age 31. He denied symptoms referable to the cardiovascular system, although he did note that his legs easily
became fatigued upon exertion. Physical examination disclosed the following blood pressures by cuff: right arm, 120/80 mm. Hg; left arm, 125/85 mm. Hg; right leg, 160/100 mm. Hg; left leg, 140/105 mm. Hg. The point of maximum impulse of the heartbeat was found in the fifth intercostal space at the mid-clavicular line. A Grade 2/6 systolic murmur was best heard in the second left intercostal space, and a Grade l/6 systolic murmur was heard posteriorly at the tip of the left scapula. The aortic second sound was louder than the pulmonic second sound. The femoral pulses were full and equal to each other and greater than the radial pulses. Chest films showed an indentation in the descending aorta, and a double indentation of the barium-filled esophagus (Figs. 1 and 2). An electrocardiogram showed complete right bundle branch block. Retrograde femoral artery catheterization indicated no pressure gradient across the area of constriction (Fig. 3). The constriction was well seen in the descending aorta after the injection of 75 per cent Hypaque (Fig. 4). The diagnosis was mild coarctation of the aorta. B. The patient’s brother, R.B.,* came under medical care in 1961, at the age of 28, upon complaint of dyspnea, fatigability, and headaches. Hypertension had been discovered 7 months previously. Physical examination disclosed decreased femoral pulsations, chest films indicated notching of the ribs, and catheterization substantiated the diagnosis of coarctation of the aorta. Direct manometric pressure was 180/100 mm. Hg in the brachial artery, and 110/90 mm. Hg in the femoral artery. The electrocardiogram revealed left ventricular hypertrophy. On Aug. 30, 1961, a large postductile coarctation of the aorta was found at operation. Resection was successfully accomplished, and the
From the Department of Medicine, Madigan General Hospital, Tacoma, Received for publication Aug. 7. 1964. *The patient was cared for by Dr. Joseph J. Garamella. of Minneapolis, the case history available.
115
Wash. Minn..
whom
we wish
to thank
for making
116
Am. Hcort 3. rulJ. 1965
Keller and Cheitlin
specimen showed a complete diaphragm at the level of the coarctation. Postoperative blood pressures were 178/90 mm. Hg in the right arm, and 174/120 mm. Hg in the popliteal area. Seventeen months postoperatively the blood pressure in the right arm was 184/100 mm. Hg, and the pressure in the popliteal area was 160/110 mm. Hg. A bruit was heard in the right subcostal area, and further study was advised in order to investigate the possibility of renal artery stenosis underlying the persisting hypertension. The patient did not return, however. Examination of W. B.‘s three male children, ages 2, 5, and 7, revealed no abnormality, and their chest films and electrocardiograms were normal. It is of some interest that W.B.‘s mother died in her early thirties of an unknown heart condition; an autopsy was not performed. The patient’s two sisters, ages 32 and 34, were examined and had electrocardiograms and chest x-ray films that showed no abnormality.
Discussion
Fig. 1. Lateral the descending
chest aorta.
film
showing
indentation
of
Fig. 2. Posteroanterior chest film showing indentatation of the descending aorta (arrow) and double indentation of the barium-filled esophagus.
The distinction between coarctation and mild coarctation of the aorta anatomically is based upon the degree to which the aortic isthmus is constricted. Physiologically, the distinction is based upon the presence or absence of a pressure gradient across the compromised area. Gupta and Wiggers5 determined that distal pressure does not significantly fall until the lumen of the stenotic segment is reduced to approximately 45 to 5.5 per cent of the crosssectional area of the proximal aorta. In a review of autopsy specimens, Edmunds and associates* found all graduations of stenosis from mild to complete atresia. The finding of a difference in pressure between the upper and lower extremities, increased collateral arterial circulation, rib-notching, and the hypertension observed in coarctation of the aorta occur when there is more than a critical degree of occlusion of the lumen. Pulse pressure in the renal arteries has been thought to be an important factor in the causation of hypertension.6 A degree of constriction sufkient to decrease distal aortic pressure is not present in mild coarctation. There may well be turbulence of flow, as attested to by the murmur which is frequently present. Gupta5 has found, in animal experiments, that murmurs can occur before demonstrable differences in pressure are observed. Turbulence of flow may, in addition to causing the murmur, lead to the development of poststenotic dilatation.
Pseudocoarctation
Fig. 3. Pressure tracing area of constriction.
of retrograde
Fig. 4. Aortogram showing constriction scending aorta (75 per cent Hypaque).
femoral
in the
artery
de-
It has previously been suggested by Steinberg’ that the two forms of coarctation are embryologically closely related. There are striking similarities between the two forms, including the location of the constriction, the presence and characteristics of the murmurs, radiographic and the presence of postappearances, stenotic dilatation. The occurrence of right bundle branch block is frequently noted in cases of coarctation, having been found by Ziegler* in 11 of 26 instances, and by Kjellberg and associates9 in 17 of 53 instances. In view of this association, it is interesting to note that our patient with
and true coarctation
catheterization,
showing
of
117
aorta in siblings
no pressure
gradient
across
the
mild coarctation was found to have complete right bundle branch block. Accompanying cardiac anomalies have been reported with frequency in both forms. Steinberg lo has described bicuspid aortic valve, aortic stenosis, aneurysm of the sinus of Valsalva, dextrorotation, and corrected ‘transposition in patients with pseudocoarctation (mild coarctation). Campbell and Polani” in a series of 151 patients with coarctation of the aorta discovered 6 with aortic stenosis and 12 with malformations of a varied nature, an incidence twelvefold that predicted by chance alone. These authors also found a 7 per cent incidence of noncardiac malformations. The familial incidence of coarctation has been commented upon by Campbell and Polani. In their series,ll two sisters were found to have the lesion, and in other reports cited are instances comprising mother, son, and daughter, father and son, two brothers, and brother and sister. The occurrence of mild coarctation and coarctation in siblings has not, to our knowledge, been previously reported. This finding would seem to favor a distinct genetic proclivity and similar embryologic mechanism in both forms of aortic coarctation. We believe that they differ in their manifestations only by virtue of the difference in the degree to which they constrict the aortic lumen. Therefore, we prefer the terminology “mild coarctation” Coarctation refers to and “coarctation.” that form characterized by proximal aortic hypertension and diminished distal aortic pressure discoverable by decreased pulsation of the femoral artery. Mild coarctation, on the other hand, may be discovered only radiologically and perhaps by the presence of a murmur.
118
Keller and Cheitlin
REFERENCES 1.
2. 3.
Dotter, C., and Steinberg, I.: Angiocardiography, New York, 1951, Paul B. Hoeber, Inc., p. 181. DiGuglielmo, G.: Kinking of the aorta, Acta radiol. 44:121, 1955. Stevens, G. M.: Buckling of the aorta, Radiol-
ogy70:67,1958. 4. Edmunds, L. H., Jr., McClenathan,
j. E., and Hufnagel, C. A.: Subclinical coarctation of the aorta, Ann. Surg. 156:180, 1962. T. C., and Wiggers, C. J.: Basic hemo5. Gupta, dynamic changes produced by aortic coarctation of different degrees, Circulation 3:17, 1951. 6. Timmis, G. C., and Gordon, S.: A renal factor in hypertension due to coarctation of the aorta: preliminary observations, New England J. Med. 270:814,1964.
Am. Heart J. July, 1965
7. Steinberg, I.: Anomalies (pseudocoarctation) of the arch of the aorta-Report of eight new and review of eight previously published cases, Am. J. Roentgenol. 88:73, 1962. 8. Ziegler, R. F.: The genesis and importance of the electrocardiogram in coarctation of the aorta, Circulation 9:371, 1954. 9. Kjellberg, S. R., Mannheimer, E., Rudhe, V., and Jonson, B.: Diagnosis of congenital heart disease, ed. 2, Chicago, 1959, The Year Book Publishers, Inc., 1959, p. 590. 10. Steinberg, I., and Hogstrom, J. W. C.: Congenital aortic valvular stenosis and pseudocoarctation (“kinking, buckling”) of the arch of the aorta, Circulation 15:545, 1962. 11. Campbell, M., and Polani, P. E.: Etiological factors in coarctation of the aorta, Lancet 1:463, 1961.