PULMONARY
ATRESIA
WITH
INTACT
VENTRICULAR
SEPTUM
Brian Kiely, M.D., Francisco Morales, M.D., and David Rosenbium, M.D.
The Departments of Pediatrics (formerly) and Radiology, State University of New York, Downstate Medical
Center, Brooklyn, N.Y., the Department of Pediatrics, University of Wisconsin Medical School, Madison, Wisconsin (formerly), and the Department of Pediatrics, New York University School of Medicine,
New York, N.Y.
(Submitted January 10, 1962; accepted for publication April 30, 1983.)
Dr. Morales held a research fellowship from the New York Heart Association. his present address is
Edgewater Hospital, Chicago, Illinois.
This work was supported in part by the Health Research Council of the City of New York under contract
# U-1007.
ADDRESS: (BK.) I)epartment of Pediatrics, New York University School of Medicine, 550 First Avenue,
New York 16, N.Y.
841
PEDIATRICS, November 1963
P
ULMONARY ATRESIA with intactventricu-lar septum and a diminutive right
yen-tricbe is an uncommon defect comprising
1% of all congenital cardiac malformations, according to tile estimate of Keith et al.’
It has received little attention until re-cently, although in our personal, but not
necessarily typical, experience it has been
more than twice as common as the more
familiar tricuspid atresia, which it
resem-bles clinically and physiologically. In this
anomaly the pulmonary valve is completely
imperforate; and the right ventricle, which
has no outlet, is a tiny chamber with a very thick wall and an inflow orifice and tnicus-pid leaflets commensurate with its minute capacity. Tile only effective outlet from the
rigilt atrium is into the left atrium through
a patent foramen ovale or atrial septab de-fect, and blood reaches the lungs through
a patent ductus. We have had no
experi-ence with the even rarer form of pulmonary atresia with intact ventricular septum where tile right ventricle is of normal size or enlarged; therefore, it will not be dis-cussed except incidentally.
The purpose of this paper is threefold: (1) to describe our own five cases; (2) to
summarize the findings in available case
reports in the literature, wilich has not been reviewed before; and (3) to discuss the pos-sibility of achieving palliation in this condi-tion which causes early death, has never
been successfully treated, and yet appears potentially remediable.
CASE SUMMARIES
The five cases to be described have been collected over a period of 6 years in New
York City and Wisconsin. The diagnosis
was proved at autopsy in four, heart cath-eterization was done by conventional meth-ods in three, and angiocardiography was performed in two. Surgery was attempted
in one case. All had repeated examinations
by a cardiologist and serial x-rays and
electrocardiograms.
Case 1
A 10-clay-old white female weighing 2,750 gm
was admitted because of congenital heart disease.
Gestation and delivery were uncomplicated, but
a faint systolic murmur in the fourth left
inter-costal space and progressive cyanosis without
tachypnea had developed on the first day of life.
on the second day only, the murmur was described
as a “to and fro ductus type.” On admission her cyanosis was aggravated by crying. The
examina-tion did not reveal any thrill, enlargement of the
heart, abnormality of the heart sounds, or
he-patomegaly. Pulses and blood pressures were
nor-mal. The only other positive finding was a soft
systolic murmur at the lower left sternal border. Electrocardiograms at 1 and 10 days of age shlowed
high, peaked P waves, a normal P-It interval
(0.12 second), a mean QRS axis of +75 degrees,
and almost no upward deflection of QRS on the
right precordium. The T-waves were inverted in
many heads where they are normally upright.
These changes were interpreted as evidence of
right atrial enlargement and left ventricular
pre-ponderance, probably due to a small right
ven-tricle. The heart films are shown in Figure 1.
The clinical diagnosis was tricuspid atresia or
Au hour before her death on the third hospital day she began to have gasping respiration, enlarging
liver, and more severe cyanosis. At autopsy the
coronary sulcus was dis1)laced to the right. The
main pulmonary artery was smaller than the aorta
iRit not minute. The ductus arteriosus was patent,
and there was a large patent foramen ovale as vehl
as multiple perforations of the posterior, superior
portion of the atrial s(1)tUm. The tricuspid valve
ring and leaflets were small but not stenotic in
rehation to the size of the right ventricular cavity,
which was a tiny chamber embedded in a thick
mass of muscle. The pulmonary valve was also
small in circumference and completely atretic on
gross inspection. Its pulmonary artery surface
was marked by three slight ridges radiating from the
center. The left Si(l( of the heart appeared normal.
Case 2
A 2,940-gm male baby was born at term after
a pregnancy and delivery without significant
com-plications. Progressive cyanosis and an inconstant
murmur were noticed from a few hours after birth.
On the third day the cyanosis became worse with
crying, but there was no tachvpne:i, and the
cardiovascular examination was otherwise normal
except for a faint systolic murmur in the third left
intercostal space at times. Congestive heart failure,
manifested by dyspnea and enlargement of the
liver, appeared on the fourth day of life. The
electrocardiogram (Fig. 2) was interpreted as
showing right atrial hvpertrophy and, since there was deficient upward deflection on the right
with-out high voltage on the left, decreased right
ventricular activity. The x-ravs are Shown in
Fig-ure 3.
He was thought to have tricuspid atresia or
pulmonary atresia with intact ventricular septum.
The former was excluded liv heart catheterization
on the fifth day of life since the ctthieter enteredl
the right ventricle where a systolic pressure of 78
to 120 mm Jig and an end diastolic pressure of
8 mm Hg were found. Figure 4 shows the
angio-cardiographic appearance of the tiny right
veil-tricle. The catheter also entered thie heft atrium
where the l)bOOdl as (lesaturated, indicating a
right-to-heft shunt at the atrial level.
In the ensuing 4 days he had diarrhea, vomiting.
deep cyanosis, grunting respiration, and weak heart
sounds. He (lied Ofl the ninth clay of life. At
autopsy the right atrium was dilated, and there
was : small patent foramen ovale. The tricus1)id
valve was snlall but normally formed. It led into
a minute right ventricular chamber surrounded liv
an extremely thick wall. No outflow tr:ict could be
demonstrated in the mass of muscle. The main
trunk of the imlmoiary artery was very small, and
the valve seen from the distal aspect was as
de-scribed in Case 1. The left side of the heart was
normal although the aorta was wider than average.
The ductus arteriosus was pateilt and equal to the
pulmonary artery in caliber. Microscopic sections
showed focal fibrinous epicarditis, myocardial
hemorrhage, and muscle fiber necrosis in the
re-gion of the right ventricle. The pathologist felt
ARTICLES 843
Cast
2
#{163}.5ays
On digitalis
H
4k
I
-II
III
-LH
aVI
aVL
aVF
f;
t #{149}1V41
Vi
Vs
V4
V,
Vu;. . Case 2. Note peaked P waves in lead II, P-H of 0. 12 seconds, QHS axis of +45,
and lack of upward deflection in aVR and the right prccorlial leads.
Fic. 3. Case 2. (A) Anteroposterior view showing slight enlargement, concave pulmonary artery’ segment,
hemispherical left border, and greatly decreased pulmonary vascularity. (B) Left anterior oblique View
PULMONARY ATRESIA
Case 3
A 7-day-old white male was admitted because
of cyanosis and dyspnea. Gestation had been
corn-phicated by possible scarlet fever and some vaginal
bleeding in the first trimester. The baby was born
uneventfully at term weighing 3,220 gm and was
considered normal for the first 2 days. Dvspnea,
cyanosis, and a murmur appeared suddenly on the
third clay; and his condition rapidly l)ecame
criti-cal.
On admission cyanosis was more striking than
(l5pJ) although he ‘as obviously very ill. His
weight at this time was 3,912 gm. The neck veins
were not distended. The lungs were clear. The
heart was not enlarged to percussion, and there
was no thrill. The heart sounds were described as
normal, but a faint systolic murmur was heard
near the xiphoid process. The liver was enlarged.
Pulses and blood pr’ssures were within normal
limits.
An electrocardiogram, taken at 14 days of age,
shioved tall, peaked P waves in lead II, a normal
P-R interval of 0.12 second, a mean QRS axis
of +90 (legrees, and tall R waves in II, III, and
aVF. There was no upright deflection in aVR, but
there was an RS pattern all across the precordium.
There were also extensive T wave changes. The
tracing was interpreted as showing right atriah
enlargement and, compared to earlier
clectrocardio-grams, progressive left ventricular preponderance.
The x-rays are illustrated in Figure 5. The
clinical diagnosis was tricuspid atresia, pulmonary
atresia with intact ventricular septum, or
“pseudo-truncus” (tetralogy of Fallot with pulmonary
atresia). On the tenth day of life an
angiocardio-gram was done. The contrast medium entered the
right atrium and passed immediately into the left
atrium ‘hence it \sas carrie(l to the heft ventricle
and aorta. Tile right ventricle and pulmonary
ar-terv vere not 01)Icified. At heart catheterizatu)i1
3 days later tile right ventricle entered
al-though the tricuspid orifice seemed to be posterior
to tile right atrium ari the outflow tract of the
right ventricle normally locate(l. The data are
given in Table I.
Three days after the catheterization he
tie-veloped diarrhea, which was controlled vith
diffi-culty. Progressive weight loss continued after the
stools had become formed. lie was never in a
condition to tolerate surgery, lie was treated for
congestive failure on tue day before death
be-cause of the appearance of edema of the legs, hut
the following day respiration ceased. He died at
the age of 6 weeks. Consent for autopsy was
re-fused.
Because the clinical an(l angiocardiograpliic
features suggested tricuspid atresia, hut it was
possible to pass the catheter into the right
ven-tricle, it is probable that this patient also had
pul-monary atresia with intact ventricular septum.
Case 4
.k 3-month-old shite feniale was admitted. She
ha(l been born one month before the expected
Fic. 4. Case 2. Single frames of a selective cin#{233}angiocardiogram in left anterior oblique position (A)
im-mediately after injection into the right ventricle, and (B) several seconds later. The small, high chamber
TABLE I
DATA AT hEART CATHETERIZATION IN CASE S
02 Content (vol lOOm!)
02 Saturation
(%)
RV 80/0 to 10*
HA
LA
FA
‘3.5
6.5
6.9 ‘31
845
is decreased.
ARTICLES
date, weighing 3,210 gm. A murmur and cyanosis
without tachypnea had been present since birth.
On physical examination she was small (3,750 gm)
but vigorous. The cyanosis became more severe
when she cried. A strong impulse was felt below
and to the left of the xiphoid, and the left border
of dullness was near the anterior axillary line. A
moderately loud continuous murmur maximal in
the third left intercostal space and a louder
systolic murmur between the left sternal border
and apex were heard, but there was no thrill. The
heart sounds were hardly audible. The pulses and
1)100(1 pressures were unremarkable. The
electro-cardiogram is illustrated in Figure 6 and indicates
right atrial enlargement and decreased right
yen-tricular activit’. Figure 7 shows thie x-rays.
She was believed to have tricuspid atresia,
pil-monary atresia with intact ventricular septum, or
a tetralogy with an interatrial communication. At
heart catheterization pressure measurements were
obtained as shown in Table II.
The catheter entered the right ventricle, thus
excluding tricuspid atresia, but more readily
crossed the atrial septum into the left heart. The
only right-to-left shunt was at the atrial level, and
the arterial saturation was 82. Dye-dilution curves
recorded from the femoral artery shiowed a
left-to-right shunt distal to the mitral valve attributable
to patency of the ductus arteriosus. Curves
re-corded after injection into the right heart had
slightly later appearance times and were flatter
than those from left sided injections leading to the
erroneous suspicion that the pulmonary valve was
Pressure
(mm Jig)
a=10
v= 9
mean = 5
a=11
‘.= Ii
ineati = 5
87/55
* Etid-diastolic
patent. In retrospect this was probably due to slow
egress of dyed blood from the large right atrium.
Attempts on this and a subsequent occasion to
demonstrate the outlet of the right ventricle by
selective angiocardiography were unsuccessful
be-cause of arrhythmia.
The baby died suddenly following the second
catheterization although she appeared to have
made a good recovery from the anesthesia. At
autopsy the heart was markedly enlarged. The
right atrium was greatly dilated and the foramen
ovale anatomically patent with an opening
measur-ing 10 by 2 mm. The tricuspid valve was small
Fic. 5. Case 3. (A) Anteroposterior and (B) left anterior oblique views. The heart size is borderline. The apex is elevated without the rounded contour of Figures 1 and 3. In the left anterior oblique position the
CASE 4 AGE 3 MOS.
II Ill
‘V3R I I:
-V2
t+”-+
V1?ff ve
846
TABLE II
MEASUREMENTS OBTAINED AT HEART
CATHETERIZATION IN CASE 4
left side of the heart, and the coronary circulation
were unremarkable. There was a patent ductus of
the same calibre as the pulmonary artery.
Case 5 Pressure
(mm Jig)
RA a=13
niean= 8
RV 105/-2 to 12*
LA v=1O
IN 83/-4 to 2*
* End-diastolic pressure.
with a diameter of only 10 mm but with
well-formed leaflets. The right ventricular cavity was
very small, measuring 20 by 10 by 10 mm. The
wall of this chamber measured 15 mm in thickness
and was fibrotic as well as hypertrophied. There
was no ventricular septal defect. The three cusps
of the pulmonary valve were partly demarcated by
ridges on the distal surface, but they were
com-pletely fused and atretic. The main pulmonary
trunk was patent and had a diameter of
approx-imately 4 mm. The pulmonary venous return, the
A 2,100-gm female infant was born in the
hos-pital. On the first day of life she had a loud
systolic murmur at the left sternal border. On the
third day she had begun to have cyanosis and
tachypnea, and the heart sounds had become very
faint, but the murmur had disappeared. There was ahyperactive impulse near the xiphoid process.
Enlargement of the liver and peripheral edema
were present, and treatment with digitalis was
begun. On a phonocardiogram there was no
dis-tinct splitting of either heart sound. The
electro-cardiogram may be seen in Figure 8; the
inter-pretation was left axis deviation and left
ventricu-lar preponderance with possible right atrial
en-largement. The x-rays are shown in Figure 9.
Serum electrolytes on the fourth day were as
fol-lows: sodium 133, potassium 5.7, chloride 101.5,
and CO 17.5 meq/l.
In view of past experience it was felt that special
diagnostic procedures were contraindicated
be-cause of the risk and delay involved. It was
de-cided to create an anastomosis between the
su-perior vena cava and right pulmonary artery
AVR AVL AVF
Fic. 6. Case 4. Electrocardiogram at age 3 months. Note very tall, peaked P waves; P-R of 0.10 to 0.16 seconds, mean QRS axis of +120#{176};tall R in leads II, III, and aVF; absence of upward deflection in aVR,
ARTICLES 847
FIG. 7. Case 4. (A) Anteroposterior and (B) lateral films. The heart appears enlarged although none of it
extends to the right of the spine. The apex is elevated with some suggestion of a “hemispherical” left
border. Left atrial enlargement is present in the lateral view. The pulmonary markings are scanty.
(Glenn O1)eratiOfl)’; this was done on the fifth da
of life without great difficulty. The post-operative
course was complicated by grunting respiration
with retractions and moist rhonchi in both lungs,
more on the left. The serum pH fell progressively
to less than 6.8. Intravenous calcium gluconate
and external massage failed to maintain the heart
beat, and the infant died 4 hours after the
op-eration.
At autopsY the heart weighed 20 gm. The
rounded left border consisted of the left atrium,
left atrial appendage, and left ventricle. The right
atrium was dilated. The foramen ovale was patent
while the tricuspid orifice was a tiny opening
guarded by two minute valve cusps. The right
ventricular cavity was the smallest in this series
and consisted of a tract superficially embedded in
the myocardium extending transversely from the
tricuspid valve to the atretic pulmonary valve. The
main pulmonary artery was about 4 mm in
di-ameter at its bifurcation, and each main branch
was also about 4 mm in diameter. The ductus
arteriosus was patent. The left atrium and
ven-tricle were enlarged and the ventricular septum
intact. The surgical connection of the superior
vena cava to the right pulmonary artery was
in-tact; no obstruction or thrombosis was found. A
photograph of the specimen appears in Figure 10.
COMMENT AND REVIEW OF THE LITERATU RE
Pathology
Our four s1)ecimens illustrate ty)icallv
tile morphologic abnormalities described in
the literature by various authors in a total of 39 cases of pulmonary atresia with intact ventricular septum and a small right
yen-triclel2o excluding tile 23 cases of Keith
et a121 which are not described in detail. The atresia is at the pulmonary valve itself, which has a small diameter and apI)ears as
if tile cusps were small but normally formed
and completely fused at their free edges.
We know of no definite evidence for the belief that atresia may develop from severe stenosis after birth.3#{176}Occasionally the right
ventricular outflow tract is atretic as well, as in our Case 2. The main pulmonary artery is usually patent and widens toward the bifurcation. Of surgical importance is the fact that it is of reasonable caliber,
V
_
aorta,#{176} being the minimum with five ex-ceptions where it was “hypoplostic,” atretic,
or 12, 17, 20 The cavity of the right
ventricle is always very small in the type of case that is the subject of this article; and the wall, although very thick, comprises less than its normal proportion of the mass
of the heart muscle. The other type with a normal to large right ventricle, which is not the subject of this article, has been reported in about 16 instances16’19’ 20, 23, 24; thus, it
comprises about one-fourth of the total number of cases of pulmonary atresia with intact ventricular septum including our own. Ziegler#{176} has suggested that there is a continuous spectrum in regard to right ventricular size, but to date we have not observed hearts with right ventricles in the range between normal and very small, nor have we discovered published descriptions
of such specimens.
The tricuspid valve has been considered
stenotic by a few authors,i 1 1 L but most
agree with Edwards et al.22 that the small
orifice and cusps are merely in keeping
with the size of the ventricle. Oddly, two
of the hearts in our series were erroneously
reported by different pathologists in
differ-ent institutions to have tricuspid atresia and
pulmonary stenosis probably because this is a more familiar combination. Tricuspid insufficiency is uncommon in the type with a small right 14; one group finds
it frequently associated with the type with
a large RV.19 The right atrium is dilated, and sometimes there is fibroelastosis of its
endocardium.
.
14 The main outlet of theright side of the heart is from the right
atri-urn to the left artium through an opening
which is usually a widely patent foramen
ovale or occasionally an atrial septal defect. The left-sided chambers are normal or slightly enlarged. The ductus arteriosus,
be-ing the only route by which blood reaches
CASE 5
Ill
AGE 3 DAYS
. flu ;1:;..
AVR
___
:a ;;: -;;- -:
*VL AV F
V4R
v,
V2 V_Fic. 8. Case 5. Electrocardiogram at age 3 days on digitalis. Note peaked P-waves in lead \‘2, P-R interval
of 0.12 secOn(is, QRS axis of + 15#{176},and absence of upward deflection in aVR and \‘i. H in V.;
_
2.0 my,ARTICLES 849
vascular markings.
tile lungs, is always patent. At one center a
high proportion of specimens (9 of 13) has been found to have anomalous connections between the right ventricular cavity and the coronary arri925
Clinical Features
In reported cases cyanosis is usually present on the first day of life, and most of the babies are dyspneic, at least with feed-ing, if not continuously. “Tetrad spells” (acute episodes of air hunger and increased cyanosis) have occurred in occasional
cases.”9 Our patients and those reported
by Benton et al.20 did not have marked dyspnea until it appeared, along with en-largement of the liver and peripheral edema, as a sign of the onset of congestive failure. After this happens survival is brief;
the median age at death in 26 cases where
the information is available was about 3
months.
There is no physical sign which is
diag-nostic or even particuarly suggestive of this
disease. Among 23 patients, 5 had no mur-mur, 2 had continuous murmurs, and one had separate systolic and diastolic mur-murs; 15 had systolic murmurs located at various levels near the left sternal border
and ranging in intensity from barely
aud-ible to “loud,” but 4 of them were intermit-tent or disappeared. In two of our own cases the first heart sound was always very
weak, and in one of them (Case 4) this was
not attributable to congestive failure. A pure second sound on auscultation has been
reported in a number of instances”18’29’24;
but, since splitting is difficult to hear in young infants, its absence cannot be helpful diagnostically in most of these cases. The
only phonocardiogram was in our Case 5;
it did show a single second sound at an age
when splitting might have been expected.
Electrocardiography
The electrocardiogram is more distinctive
hyper-Fic. 10. Case 5. Fieart and lungs, anterior view.
Ao = aorta; LV left ventricle, incised; PA =
pulmonary artery; PV = location of pulmonary
valve; RV = right ventricular cavity seen through
incision; TV location of tricuspid valve.
trophy, is usually present. This was the case in four of our five patients and in all of six reported by D’Avignon
et
al.19 but in only one of four in the series of Bentonet al.’#{176}Even if the P waves are normal at first, the abnormality is likely to develop rapidly in the first few days of life. The
P-Q segment and P-R interval were normal
in our cases and we have not found any case reports wllere there was shortening of P-R as in about 50% of cases of tricuspid atresia. This agrees with the findings of Benton et ai.#{176}The mean axis of QRS is almost always farther to the left than cx-pected in the commoner congenital heart defects producing cyanosis. Review of 22 cases described by various hhb62O
and including our own, shows wide dis-tribution of the axis in tile area from -100#{176} to + 120#{176}.Keith et al.” found normal or right axis (+ 60#{176}to + 140#{176}).On this basis they state tllat pulmonary atresia with
in-tact ventricular septum and small right
ventricle may be distinguished from
tn-cuspid atresia by the presence of right axis deviation in the former and left axis
devia-tion in the latter. Although it is trite that left axis deviation is onmoer in tricus1)id
atresia than in the lesion we are discussing, it occurred in 7 of tile 22 cases of
pulmo-nary atresia reviewed and therefore is not
diagnostic of tricuspid atresia. Infonniation concerning the unipolan leads was found in 20 cases. There was deficient upward de-flection in aVR and on the right precon-dium, reflecting decreased right ventricular activity, in 13 instances. One or two of these also had high voltage II waves on tile
left precordium. Four patients had tall R waves and/or delayed intninsicoid deflec-tions on the right, hut only one of these lacked additional evidence of left ventnicu-lar preponderance.” In three the precordial leads were normal. Inversion of the T-waves in leads where tllev are expected to be
up-right was common.
Roentgenography
Roentgenography demonstrated marked enlargement in only 2 of 22 cases reviewed, but slight enlargement was the rule. In
about 11 or 12 cases (references 11, 19, 24,
& 27; and 3 or 4 of our own patients) the
outline of the heart had a specific shape characterized by a semicircular or “hemi-spherical” appearance of the entire left border from tile vascular pedicle to the dia-phragm. At autopsy in our Case 5, it was
apparent that this shape was produced by
absence of tile main pulmonary artery
seg-ment together with prominence of the left
atrium, left atnial appendage, and left ven-tricle. With equal frequency the apex is
elevated and pointed, as in the tetralogy of
Fallot, without the circular contour (our
Cases 3 and 4; and references 17. 22, & 27).
ARTICLES 851
left heart border and “cut-off” appearance of the right ventricle, when present, are highly characteristic of the anomaly we are
discussing and logically related to the
path-ologic anatomy, unfortunately they are
in-distinguishable from the findings in some cases of tricuspid atresia, which presents the greatest problem in differential diagno-sis. Left atrial enlargement was demon-strated in our Case 4. There is general agreement that the pulmonary vascular
markings are diminished.
Physiologic Studies
Angiocardiography has been performed in about 15 cases.14’ 1720, 24 Benton
et al.
20 have pointed out that venous injections are useful for demonstrating the route of blood flow from right atrium through the foramen ovale to the left side of the heart and into the pulmonary circulation via the ductus arteriosus. This was also our experience inCase 3. In one of Bifulco’s cases even hypo-plastic pulmonary artery branches were
opacified in this manner.’7 Selective
injec-tion is better for visualizing the anatomy of the right ventricle. The contrast medium
is retained in the small, blind cavity; and the great thickness of the wall is apparent. No filling of the pulmonary artery from the right ventricle is observed. Instead, the injected material leaks back slowly into the right atrium through the tricuspid valve, the competency of which is thus demon-strated; or it may be forced into myocardial
sinusoids where it outlines the muscle mass of both ventricles, as in our Case 2, or drains into anomalous coronary vessels, as in the case of D’Avignon et al.’9 In Kjell-berg’s case the atretic pulmonary valve
itself could be discerned.24
Heart catheterization has been performed
in three cases reported in the litera-9,24 and three of our own. The right
ventricle was entered in all six. It is of
in-terest that this chamber was capable of
generating high systolic pressures ranging from 75 to 137 mm Hg in spite of its
ab-normal structure. Paul
et
al.’
observedtriangular pressure curves of the type seen in pulmonary stenosis. Nevertheless, the ventricle is functionless since it cannot empty. The pressure measurements support tile assumption of Edwards that the struc-ture of the ventricle is the result of con-tinual contraction against very high
re-sistance.26 The right atrial a-wave was of
high amplitude (10 to 14 mm Hg) in the
four cases in which it was measured, but
there was no pressure gradient at the
tn-cuspid valve, right ventricular end-diastolic
pressures ranging from 8 to 15 mm Hg. The
absence of a gradient should not be
inter-preted as evidence against tricuspid steno-sis, however, because there is little or no flow from atrium to ventricle.
Differential Diagnosis
The combination of cyanosis, decreased pulmonary blood flow, and an electrocardio-gram showing right atrial hypertrophy, nor-mal axis or left axis deviation, and left ventricular preponderance on the precordial leads is uncommon. Tricuspid atresia is the most important entity to be distinguished from pulmonary. atresia with a small right ventricle; extreme pulmonary stenosis with a small right ventricle and single ventricle with pulmonary stenosis are also possibili-ties. (Pulmonary atresia with a large right
ventricle is associated with right ventricular
preponderance on the electrocardiogram
and need not be considered.) Tile
electro-cardiogram may be of some help. About half of the cases of tricuspid atresia have a short P-R intervai,21 which is not found
in pulmonary atresia with intact ventricular
septum. According to Benton
et
al.20 pul-monary stenosis with a small right ventricleproduces a “figure of 8” loop in tile frontal
vectorcardiogram and a QrsR’ pattern in lead II, III, or aVF; but this does not occur
in pulmonary atresia.
The only certain means of making an exact diagnosis is heart catheterization.
Passage of the catheter into tile right
selective angiocardiography would reveal patency of the pulmonary valve in extreme
pulmonary stenosis or absence of the
yen-tricular septum in single ventricle with pulmonary stenosis. Nevertheless we be-lieve that heart catheterization is not in-dicated in this situation because of inherent danger (cf., our Cases 2 and 4), because of the danger of delay, and because it may be unnecessary. Fortunately in all of the car-diac anomalies that present the findings described above, anastomosis of the superior vena cava to the right pulmonary artery is
a logical means of palliation.
Surgery
Attempts to relieve pulmonary atresia with intact ventricular septum and small right ventricle by surgery have been
uni-formly unsuccessful, and there have been
no survivals. Four patients have had anas-tomosis between a systemic artery and a pulmonary artery (Blalock or Potts
opera-417, 20 Another had a Brock
valvot-omy.19 The anastomosis of the superior vena cava to the right pulmonary artery leaving the ductus arteriosus connected to the left pulmonary artery, devised by
Glenn,28 was performed in our Case 5.
Sev-eral factors contribute to the failure to
obtain therapeutic results. Surgery is not
attempted in many cases because of the patient’s poor condition, the gloomy progno-sis, and uncertainty as to the diagnosis. Furthermore, most of the operations which
have been done are partly inappropriate.
Although it is sometimes effective in pul-monary atresia with intact ventricular sep-tum and a large right ventricle, pulmonary valvotomy cannot be beneficial when the filling capacity of the right ventricle is
in-adequate to enable it to pump a significant
quantity of blood into the pulmonary artery. Whether the chamber size could increase after pulmonary valvotomy if the patient did not die immediately is unknown.
Blalock and Potts operations fail to pro-vide a means of improving flow from the systemic veins into the left heart whence it
may reach the lungs through the
anastomo-sis which is intended to increase pulmonary
flow. Since the foramen ovale is frequently
small, future attempts to employ this type
of operation should be combined with a procedure to enlarge the interatrial com-munication.29 The Glenn operation appears to us to be the most logical treatment be-cause of its success in patients with tricus-pid atresia where tile pathologic physiology is very similar to that in pulmonary atresia with intact ventricular septum. The fact that it may be used without determining
which of these two entities-or even extreme
pulmonary stenosis with a small right
yen-tricle or single ventricle with pulmonary
stenosis-is the correct diagnosis is a distinct
advantage. Unfortunately, th e younger the
patient, the greater seems to be the
mor-tality in the operation.
CONCLUSION
In spite of the lack of success in the past, many, like ourselves, will prefer to attempt
surgery in these patients since the
progno-sis is virtually hopeless on medical
treat-ment alone. In view of our experience we feel that an operation should be done quickly in any patient with cyanosis, de-creased pulmonary blood flow, and left yen-tricular preponderance without tile addi-tional risk and delay of heart
catheteriza-tion. At the present state of knowledge
anastomosis of the superior vena cava to the right pulmonary artery seems to be the most rational procedure; furthermore, it is indicated for tricuspid atresia and other uncommon cardiac anomalies presenting a similar clinical picture as well as for pulmo-nary atresia with a small right ventricle. A right pulmonary artery of adequate size will usually be found. The chances of site-cess will increase with the patient’s age.
SUMMARY
When the pulmonary valve is atretic and the ventricular septum intact, the right
ventricle usually consists of a small chamber
develop-ARTICLES 853
ing high pressure. This pathologic picture is associated with clinical findings similar to those in tricuspid atresia-cyanosis, de-creased pulmonary flow, left ventricular pre-ponderance on the electrocardiogram, and
early death. The diagnosis may be
con-firmed by heart catheterization and selective
angiocardiography with injection into the right ventricle, but the risk is great. Surgery has never been successful in the past; but because of the equally hopeless prognosis on medical treatment, attempts should con-tinue to be made. Anastomosis of the su-I)(rior vena cava to the right pulmonary
artery appears to offer hope of success in
the future.
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COUNSELING iN MEDiCAL GENETICS, Sheldon
C. Reed, Ph.D. 2nd Ed., Philadelphia
and London: W. B. Saunders Company,
1963, 278 pp., $5.50.
Dr. Reed has presented genetic counseling
ill a manner which should be easily
under-stood. He assumes the reader knows little
genetics and he utilizes only the most common
and essential genetic terminology. The
ma-terial is presented in an open, often
light-hearted fashion, and the necessary facts are
interlaced with philosophical and personal
commentary. The simple points are stressed along with the pitfalls, resulting in a very
practical text for the clinician of today.
The majority of the book is devoted to the
more common clinical problems having a genetic etiology. Dr. Reed progresses smoothly from the diseases for which simple Mendelian risk figures can be given to the conditions for
wilich a genetic determination seems apparent,
but only empiric risk figures can be utilized.
In doing so he proceeds from the simple dom-inant and recessive concepts to those of incom-plete penetrance, polygenic determination, and the gross interdependence of genetics and en-vironment. Chromosomal abnormalities are briefly considered as are twinning, adoption, etc. Each topic is illustrated by actual ac-counts of genetic counseling requests, the
re-plies which were given, and the subsequent
follow-up. The alphabetical listing of “Rare
Genetic Traits,” each with a reference, is a
very helpful addition to the book. However, as
acknowledged by the author, the references
were the more recent ones and do not
neces-sarily represent either the best or most
corn-prehensive articles about each particular dis-ease. This book might be viewed as a primer
in genetic counseling for tile clinician. It
con-tains a good bibliography from whence the
reader can launch forth into more extensive
knowledge on particular aspects of genetics. The author emphasizes that the counselor
should endeavor to present understandable
and sympathetic information to the parents in
order to assist them in making their own
de-cisions. The physician who knows the family
is often in the best position to render this
counsel. The reviewer anticipates that genetic counsel will continue to become more of a normal facet of the general counsel which the
physician renders to his patients and genetic
risk figures will become more a normal part of the medical texts.
Dr. Reed’s book is well worth acquiring 1)0th for reading and for reference to further knowledge.
