Download Dysplasia of the Systemic and Pulmonary Arterial System

Dysplasia of the Systemic and Pulmonary
Arterial System with Tortuosity and
Lengthening of the Arteries
A New Entity, Diagnosed During Life, and Leading
Coronary Death in Early Childhood
to
By ALOIS J. BEUREN, M.D., WALDEMAR HORT, M.D., HEINRIcH KALBFLEISCH, M.D.,
HELMUTH MULLER, M.D.,
AND
JOACHIM STOERMER, M.D.
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SUMMARY
This article describes the
case
of
a
boy,
1
year
and 5 months old, with generalized
tortuosity and lengthening of all major arteries, including the coronary arteries and the
pulmonary artery. The early death of the patient was attributed to coronary insufficiency
and multiple severe peripheral pulmonary stenoses.
The pathological changes were confined to the elastic arteries and the first part of the
muscular arteries. The wall of the aorta was thickened and there was an increase of the
elastic fibers. The same changes were present in the main pulmonary artery. In the
large muscular arteries, the characteristic changes were thickening of the intima with
hyperplasia of the elastic fibers and degenerative fragmentation of the internal elastic
membrane. The walls of the coronary arteries were thickened and their lumina were
narrow.
Additional Indexing Words:
Multiple peripheral pulmonary stenoses
Degenerative arterial hyperelastosis
Coronary insufficiency in infants
T ORTUOSITY of a single artery has been
described in the literature.'1-5 In the
majority of these cases, elongation and tortuosity occurred in elderly patients due to
hypertension or atherosclerosis."6 In some patients kinking of a single artery or of the
aorta simulated aneurysms,3 6 coarctation,'2
or tumors.10, 15, 17
Diffuse tortuosity and lengthening of the
systemic arteries in a girl dying at 10 years
of age has recently been described by
Ertugrul.'8 His case was characterized by
generalized tortuosity and lengthening of
the aorta and all its major tributaries. There
was also a diffuse aneurysm of the ascending aorta and aortic regurgitation. Involvement of the coronary and pulmonary arteries
was not mentioned by the author. Biopsy of
the peripheral artery was interpreted as showing fragmentation of the internal elastic membrane and a considerable decrease in elastic
fibers in the media.
Early in 1967, we examined a 17-monthold boy with tortuosity and lengthening of
the systemic and pulmonary arteries, including
the coronaries. We presume that the patient
had the same disease that Ertugrul's'8 patient
had, although, there are some differences in
the clinical picture.
From the Departments of Pediatric Cardiology
and Pathology, University of Gottingen, Gottingen,
Germany, and from the Department of Pediatrics
of the Hospital Sarepta, Bethel-Bielefeld, Germany.
Report of Case
D. K., born October 1, 1965, had had daily episodes of dyspnea since the age of 6 months, with
Circulation, Volume XXXIX, January 1969
109
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Figure 1
Electrocardiogram. Right ventricular hypertrophy with strain and myocardial infarction.
admissions to a hospital on three occasions. These
attacks eventually were thought to be episodes
of coronary insufficiency, and he was referred to
the Department of Pediatric Cardiology of the
Hospital of the University of Gdttingen on March
2, 1967.
On admission the child appeared healthy. A
grade II continuous murmur, which was loudest
in the second left intercostal space and in the
back on both sides of the vertebral column, was
heard. The roentgenogram showed cardiac enlargement with a cardiothoracic ratio of 62%.
The electrocardiogram was diagnosed as showing
right axis deviation, right ventricular hypertrophy
with strain, and myocardial infarction (fig. 1).
Episodes of coronary insufficiency occurred
several times a day and increased in duration
during the hospital period of 4 weeks. The patient would suddenly cry out with pain, become
restless, pale, and begin to sweat.
Circulation, Volume XXXIX, January 1969
TORTUOSITY AND LENGTHENING OF MAJOR ARTERIES
Table 1
Cardiac Catheterization Data
Oxy gen
Level
Inferior veiia cava
Superior vena cava
Right atriuim, high
Right atritn, miicdle
Right atriumni, low
Right ventricle, middle
(3 samIiples)
Left pulhiionary vein
Left atriumli
Left veentricle
Radial artery
satuiration
1'ressuire
(1tHiln lig)
51.5
59.0
56.5
50.0
51.5
53.0
105/5 (38)
94.0
93.5
92.0
93.0
13/3 (6.3)
100/5
95/65
ill
Right and left heart catheterization was carried
out. The pulmonary artery was not entered. No
intracardiac defect was demonstrated. The pressure in the right ventricle was 105/5 mm Hg,
and in the left ventricle 100/5 mm Hg (table 1).
Right ventricular angiocardiography (fig. 2)
showed a large right ventricle and a dilated main
pulmonary artery with pulmonary stenosis at the
10/4 (6)
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Figure 2
Right ventricular angiocardiogram, anteroposteriorview. Peripheral pulmonary stenoses are evident.
Figure 4
Left ventricular angiocardiogrami. The coronary arteries are also tortuous.
Flgure 3
Angiogram of right brachial artery. See abnormal tortuosity and lengthening of the arteries.
Circulation, Volume XXX1X, January 1969
BEUREN ET AL.
112
Left ventricular angiocardiography was done
few days later, the left ventricle being entered
through the patent foramen ovale. This showed
abnormal tortuosity and lengthening of the aorta
and all its tributaries and marked tortuosity of
both coronary arteries (fig. 4).
Pseudoxanthoma elasticum was excluded on
histological examination of skin biopsies taken
from the left side of the neck and the left upper
a
arm.
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Figure 5
Scars in the inner part of the right ventricular wall.
bifurcation. The smaller pulmonary arteries were
tortuous and showed peripheral pulmonary stenoses.
The right radial artery when exposed for retro-
grade aortography appeared similar to a stretched
telephone cord. A catheter could only be introduced for about 8 cm. Retrograde angiography
showed tortuosity of all the arteries which filled
(fig. 3). Biopsy of the radial artery revealed
fragmentation of the internal elastic membrane,
a thickening of the intima, and an increase in
elastic fibers.
1
1
13
114
115
16
1 7
118
Figure 7
(A) Renal artery separated from the aorta.
(B) Common carotid artery and subclavian artery fixed
under pressure.
1'9
Figure 6
(A) Cross-section of the main pulmonary artery and opened pulmonary artery showing peripheral stenosis at the
bifurcation (above). Thick wall. Cross-section of ascending aorta (below). (B) Pulmonary artery of elastic type
with a thick wall and narrow lumen beside a small peripheral bronchus. Elastic-van Gieson staining; X 120.
Circulation, Volume XXXIX, January 1969
113
TORTUOSITY AND LENGTHENING OF MAJOR ARTERIES
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Figure 9
Cross-section of external iliac artery. Considerable
thickening of the intima and fragmentation of internal
elastic miembrane. I = intima, M = media. Frozensection, elacin staining, X 120.
Figure 8
(A) Cross-section of right coronary artery 1 cm from
its origin. Considerable thickening of the intima with
hyperplasia of elastic fibers. No internal elastic membrane. I
itntima; M = media. Elastic-van Gieson
staining, X 120.
(B) Cross-section of right coronary artery 1 cm from
from a normal child of the same age. M =
media. Elastic-van Gieson staining, X 120.
its origin
Postmortem Examination
At autopsy there was marked right ventricular
hypertrophy with widespread scars (fig. 5).
Scars were also present in the wall of the left
ventricle and in the papillary muscles. The maximal wall thickness of the right ventricle was
13 mm. The left ventricle was smaller than the
right ventricle.
The pulmonary artery was dilated and its
Circulation, Volume XXXIX, January 1969
wall was thicker than that of the aorta (fig. 6A).
Severe stenosis at the bifurcation of the pulmonary artery was confirmed (fig. 6A). Some
small intrapulmonary thick-walled arteries of the
elastic type with a narrow lumen extended far
into the periphery (fig. 6B). Occasional aneurysmatic dilatations with a thinner media were
present in muscular pulmonary arteries.
The aortic arch, the abdominal aorta, and the
common carotid arteries were tortuous. The wall
of the aorta was twice as thick as normal and
on histological examination the elastic lamellae
were about twice as large as normal and fragmented. The structure of the large arteries of the
elastic type was the same as that of the aorta.
Changes were also present in the large arteries of the muscular type. Both coronaries were
very tortuous. The renal arteries appeared similar
to cork-screws (fig. 7A). The common carotid
artery has been perfused with a pressure of 120
mm Hg and then fixed with formalin (fig. 7B).
Figure 7A shows the tortuous renal artery separated from the aorta.
The wall of the coronary arteries was thickened and the lumen was narrow. Histological
examination showed a marked thickening of the
intima. In the proximal portions of both coronary
BEUREN ET AL.
114
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Figure 10
renial
Cross-section of
artery. Thickening of the inttirnia antd fragmentation of the itnterna(il elastic
nmembrane. Varying thickness of the media and elastic fibers in the mtiedia. Broad adventitia.
I = intinma, M = media, A = advrntitia. Elastic-v an Gieson staining, X 120.
arteries, no in-ternal elastic membranie was present. In the distal portions, this membrane could
be seen only in a few locations. Elastic fibers were
present in the intima. Some of these fibers were
running in a longitudinal directioni, some in a
cross-direction. In a cross-section of the right
coronary artery 1 cm from its origin, there were
considerable intimal pr-oliferations with hyperplasia of elastic fibers andc no internial elastic
membrane (fig. 8A). The medlia was thickened.
The borderline between the media and the inl
tima was diffuse. There was der-angement of the
increased number of elastic fibers. Figture 813
shows a cross-section of a normal riglt coronary
artery of a child of the same age, 1 cm from its
origin. Changes in the iliac arteries in ouI case
were similar to those in the coronary ar-teries
(fig. 9).
In the renal arteries, the transitional zone from
an elastic to a mtuscular artery was longer than
normal. The thickness of the media was different
in various parts of these vessels (fig. 10). Thickening of the intima, fragmentation of the
internal elastic membrane and differences in the
thickness of the media were seen. Many elastic
fibers were present in the broad adventitia. Some
of these extended into the media.
The peripheral arteries of the systemic circulation in the main organs have been examined.
The structure of these vessels was normal.
Discussion
There may be a very broad clinical spectrum in these patients, depending upon the
degree of coronary involvement and the
severity of peripheral pulmonary stenoses.
Ertugrul's 1 patient is still living. Fragmentation of the internal elastic membrane has
been described in both patients. However, the
elastic fibers are not decreased but increased,
also there is a considerable derangement of
these fibers and a thickening of the media and
the intima. In the disease described herein
the pathological changes in the arterial system are confined to the arteries of the elastic
type and to the first part of the muscular
arteries.
We beliexve that we are dealing with a
congenital malformanation of the arterial wall.
Calcinosis of the arteries with coronary calcification can be excluded. Occlusive fibroelastosis of the proximal segment of the
coronary arteries, as recently described by
MacMahon and Dickinson,",' is also different
from the changes seen in our patient.
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TORTUOSITY AND LENGTHENING OF MAJOR ARTERIES
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Dysplasia of the Systemic and Pulmonary Arterial System with Tortuosity and
Lengthening of the Arteries: A New Entity, Diagnosed During Life, and Leading
to Coronary Death in Early Childhood
ALOIS J. BEUREN, WALDEMAR HORT, HEINRICH KALBFLEISCH,
HELMUTH MÜLLER and JOACHIM STOERMER
Circulation. 1969;39:109-115
doi: 10.1161/01.CIR.39.1.109
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