PULMONARY AGENESIS

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761

CLINICAL

NOTES

PULMONARY

AGENESIS

Roentgenographic

and

Post-mortem

Findings

in One

Patient;

Hemodynamic

and

Angiocardiographic

Findings

in Another

By Harriette Clark, M.D., Roland B. Scott, M.D.,* and John B. Johnson, M.D.

P

ERSISTENT massive atehectasis of the hung

and agenesis of the lung may show

pos-tenor-anterior chest roentgenograms which

are practically identical. A definitive

diagno-sis is of importance to the patient because

atelectasis of the lung may result in serious

cOmIlicatiOns.

Agenesis of the lung is being recognized

with increasing frequency. Prior to 1942,

only 3 cases had been diagnosed correctly

ante-mortem; since that time, the clinical

diagnosis has been made in 18 published

living cases.’ It is quite probable that many

other cases have been incorrectly diagnosed

as ‘ The purpose of this paper is

to present the radiologic appearance of the

chest in a patient followed over a 12-year

period; to emphasize the value of

angio-cardiography in the diagnosis of pulmonary

agenesis; and to present the hemodynamic

and yentilatory findings in this patient with

agenesis of the left lung. In addition, the

clinical course, posterior-anterior chest films,

and autopsy findings will be presented in a

5-week-old male infant with agenesis of

the right lung and anomalous pulmonary

drainage into the right atrium.

Case No. 1

CASE

REPORTS

HIsToRY: N. W., a 5-week-old Negro male

with marked respiratory distress, was admitted

to this hospital in critical condition on 4-18-50.

From the Department of Pediatrics and the

Cardiovascular Laboratory of Freedmen’s Hospital

and Howard University College of Medicine.

This paper was supported in part by Grant

11619 National Heart Institute.

(Submitted for publication November 22, 1954.)

*ADDRESS: Sixth and Bryant Streets, NW.,

Wash-ington 25, D.C.

The caretaker accompanying the baby stated

that he had refused feedings during the

previ-ous 24 hours. The history indicated 1 bloody

stool at the onset of this illness. The mother

could give no additional information other

than her observation that something had

ap-peared wrong with the child since the age of

3 or 4 days.

The prenatal and neonatal history indicated a

full-term gestation with normal spontaneous

delivery on 3-1 1-50, and a birth weight of 5

lb. 113 oz. The gross appearance was normal.

The infant was seen in the pediatric clinic

on 4-3-50 at which time the only abnormality

found was some subcostal inspiratory

retrac-tion. Serological test for syphilis was negative. PHYSICAL EXAMINATION: On admission, the

physical examination revealed a fairly well

developed, well nourished 5-week-old male

who appeared critically ill. His weight was 7

lb. The temperature was 97#{176}F.The child was

slightly cyanotic and markedly dyspneic with

associated subcostal and suprasternal

retrac-tions. Nutrition and tissue turgor were good.

The head including the hair, scalp, anterior

fontanel and ears was negative. The eyes were

glassy with wide pupils. There was a mucoid

discharge present in the nasal passages. The

pharynx was normal. The chest revealed

marked retraction of the lower costal margin

and suprasternal region. The right chest

demonstrated flatness to percussion, absent

breath sounds and absent motion with

respi-ration. The heft chest was resonant and the

breath sounds harsh and intermittent with an

occasional r#{226}leat the base. The heart appeared

shifted completely into the right chest. The

rate was rapid but regular. No murmurs were

detected. The abdomen was slightly distended.

There were no palpable masses. The

extremi-ties were flaccid.

The roentgenogram of the chest taken on

admission revealed a homogenous density

involving the entire right thorax (Fig. 1). The

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11G. 1. Cas I it 5 \‘((kS. ‘lll( heart is shifted to thc right afl(l its l)ordcrs in(histmguishablc from the lmoimmogenotis (knsity whicll cov(rs the entire rigllt thorax.

Fic. 2. Case 2 at 3 ‘cars. All of the mecliastinal structures are in time left chest. Honiogenous (lensitv of tile left chest is suggestive of “massive atelectasis.

Fic. :3A. Case 2 at 1 years. Niediastinal structures are still shifted to the left. There is il stmggcstion of aeration Iii the upper one-third of the left chest which represents extension of a l)OrtiOll of time right

lung to the affected sidc.

Fic. :313. Ctsc 2 at 14 ears. A larger area of aeration is now prt’scnt in tile uper one-third of the left

(ll(St.

(lensity. The white blood cell CO1iflt was 28,000

vith 62 per cent neutrophils and 38 per cent

lymphocytes. rhe henioghobin was 10.5 gm.

CounsE iN TIlE HOSPITAL : On admission,

this infant was given oxygen, 300,000 units of

penicillin l)’ injectioii and parenteral

fluids, with some immediate improvement in

cYanosis and respiration. Later, the breathing

l)ecame deep and irregular. The temperature

l)egall to rise and (1uicklv reached 105#{176}F.

Antipvretic measures were unsuccessful. The

infant expired after 30 llours of hospitalization.

1il(. clinical diagnosis was 1)neulnonia ‘vith

atelectasis of the right lung.

Posi’-\IoI1TF:.I Ex’.IINvrIoN : This was a

ell developed . fairly well nourished nale

in-fant, 52 CITI. ill lengtil and 3065 gin. in weight.

[‘he psitie fiihings at post-mortem

examina-tion were as follows: When the thoracic cavity

was opened, it was immediately seen that tlle

left chest was occupied by an enlarged lung.

In the right hemi-thorax there was complete

absence of the right lung with the space being

occupied by an enlarged heart and a large

thvmus. The left lung presented hvpostatic

congestion and was atelectatic over a small

area at the apex. Anteriorly there were many

areas of ecchymosis. The cut section showed

edema, hemorrhage and congestion. About 10

ml. of clear fluid was found in the pleural

cavities. The diaphragm on the right was at

the level of the 6th rib and on the left at the

level of the 5th rib. The trachea was pe11ed

and found to continue into the left lung

with-OUt evidence of a right mnaill stein l)roncllus.

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CLINICAL

NOTES

763

in size. The superior and inferior vena cavae

and the coronary sinus entered the right atrium

normally, 1)ut an additional opening was found

medial to the superior vena cava and adjacent

to the atrial septum which was demonstrated

to he the opening of the only vein draining the

solitary left lung. The right ventricle was

dilated and hypertrophied. The

interventricu-lar septum was intact but thickened. The main

pulmonary artery arose normally from the right

ventricle but was greatly dilated. At the site

normally expected to be the origin of the right

pulmonary artery only a slight indentation was

found. The ductus arteriosus was open from

the aortic side, but a small probe could not be

passed through the pulmonary arterial end.

The heft atrium and ventricle appeared smaller

than normal.

The kidney pelves and both ureters down to

the ureterovesicle junction were dilated and

grossly patent. At the ureterovesicle junction,

the ureters were reduced in size so as to

pre-vent passage of a small probe into the bladder.

The bladder was dilated and contained 50 ml.

of amber urine.

ANATOMICAL DIAGNOSES:

1. Agenesis of lung, pulmonary artery and

bronchus on the right.

2. Defect of the interatrial septum.

3. Anomalous drainage of the pulmonary

vein into the right atrium.

4. Pulmonary congestion, partial atelectasis

and bronchopneumonia.

5. Congenital ureterovesicle obstruction

bi-lateral with dilation of ureters and kidney pelves.

Case No. 2

HISTORY: C. A. was first admitted to

Freed-men’s Hospital on 5-26-42 at the age of 3 years

in order to study the nature of a persistent

absence of breath sounds over the left side of

the chest. The patient had been under

obser-vation since 1939 at another local hospital where

a diagnosis of “otitis media and atelectasis of

the left hung” was made in 1940. Later in

1940, bronchoscopic examination was thought

to show congenital atresia of the left main

bronchus. A third admission to that hospital in

1942 showed no additional abnormalities.

PHYSICAL EXAMINATION :The physical

exa-mination On admission to Freedmen’s Hospital

in 1942 showed the essential findings to be

limited to the chest which was asymmetrical.

The heft chest was smaller than the right,

showed narrowing of the interspaces, decreased

respiratory motion, dullness to flatness to

per-cussion and marked suppression of breath

sounds.

The right chest revealed good respiratory

excursions and accentuated breath sounds.

COURSE: The clinical course in the hospital

was uneventful. The child had no respiratory

discomfort or distress during his

hospitahiza-tion. On 6-2-42, stereographic films of the

chest, made in the left lateral and

posterior-anterior positions using the Potter-Bucky

tech-nique, revealed findings consistent with an

entirely “atelectatic left hung.” All of the

medi-astinal structures were in the heft chest (Fig.

2).

A bronchoscopic examination on 6-7-42 was done. Although the bronchoscopic examination

was not completely satisfactory, the examiner

felt definitely that no left bronchus was

pres-ent. Repeat examination and bronchography

were recommended but the parents refused to

permit additional studies. Routine laboratory

procedures including hemogram, urinalysis, tuberculin test and serological test for syphilis were negative.

Because of the absence of aerated tissue by

roentgenographic examination, the absence of

breath sounds by physical examination and the

absence of bronchial components by

broncho-scopic examination, a diagnosis of agenesis of

the heft lung was made.

The patient was next seen in this hospital on

request in April, 1954. It was considered

de-sirable to re-evaluate the patient and assess

the functional state of the heart and lungs. The

patient was now 15 years of age and had been

unusually well during the 12-year interval.

He had had no serious illnesses. Routine chest

films had been taken “yearly” since 1950 at the

city chest clinic (Fig. 3).

On this examination, the patient was found

to be an asthenic Negro male, 15 years of age

and free of symptoms. His height was 66%

inches. His weight was 1 14 lb. Respiration

was 20 per minute and the pulse was 67.

The pertinent findings were limited to the

chest. The chest wall was asymmetrical, being

smaller on the heft with decreased movements

on that side. On deep inspiration the chest

circumference was 30 inches, on expiration

29% inches. On percussion the right hung field

was hyperresonant. Breath sounds were present

throughout on the right with increased tactile

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per-Fic. 4. C:ise 2 at 15 years. The nle(liastinhIIml is markedly sllifted to the left. There is an area of aera-tiOll ill tue tipper One-tiIir(i of the left tilorax dfl(i in tile vicinity of the sternum.

hI(;. 5A. Angiocardiograimm taken at 2 SccOfl(iS posterior-anterior Prjectin; 70 pr cent i)iodrast an(i tii& right tIltC(Ui)itdi \‘(ifl vcre liSe(I. A. \Iai:i steni pulnio:iary artery. B. Level of ptiliniry valve. C.

Right ventricle against left lateral cilest wail. No left puinionary artery Seen. Branches to lung tissue

which CXtCfl(lS into tl left chest aI)I)areIltlV arise fronl the non-l)ifllrcate(I Olaill SkIll pulnionarv artery.

Note location of right ventricle against chest wall in lower left axiiia.

i)ianieter of Pulumonary Artery : Just (Iistal to pulmonary valves 32 mm., and widest dianleter ‘34 nim. FR;. 5B. Angiocardiogram takell at 5 seconds I)OSteriOr-anteriOr prj#{128}’ction. A. Left auricle. B. Aorta at ieVel of aortic valve. C. 1)cscending aorta.

Aortic dianllters are \vitlliIl nornlal iinlits. Aortic I)ianmeter: Above valves 26 nrn., transverse 24 nun., JIl(l level of (Iiapllragm 17 miii.

Fic. 6. Intravenous pvie()graln. Kidneys are iocated in tile ClVIS Witil short ureteral tracts on (itiler

side of the bla(ldcr.

(L1SSi()fl over time (Utire left lung field. Breath SollIl(15 vere dll(hii)le, i)Iit chinhinishe(l in the

upper left apex. and completely absent in the

lower two-thirds of time left chest. The heart

soiiiids ere regular in rate and rhythm. No

niurmurs ere detecte(I. The P\II was at the

anterior axiliarv line in the 6th interspace. The

heart sounds ere loudly transmitted to the

left posteriorly. The blood pressure was 1 18 ‘78

ill the left arm aild 100. ‘6() in the right.

Examination of the blood gave the following

results: white blood cell count 8000,

liemo-globin 16 gm., sedimentation rate 21 mm. hr.,

hematocrit 46 per cent, NPN 28 mg. 100 ml.

(-1:02 56 vol. per cellt, serum chlorides 100

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CLINICAL

NOTES

765

TABLE I

CARDIAC CATHETERIZATION DATA OBTAINED IN CASE 2

Oxygen Saturation Per Cent Blood Pressure mm.!fg. Resistance Dynes/Sec./ Cm. BlOod Flow L/M/M Wnrk Kg. ill/Mm.! BSA S/D Mean

Superior veii:i (Ii\’;l

Right auricle

Inferior vena cava

Pulnmonarv artery Right ventricle Pulmonary capillary Brachial artery Systemic 80 76 78 90 20/14 24/I 98/78 0 0 16 7 86 131 57 703 “ ‘ ‘ ‘ ? ‘ 5.26

1.170

was negative.

ROENTGENOCRAPIIIC AND PHYSIOLOGIC

STUD-IES: On fluoroscopy there was noted a

narrow-ing of the costal interspaces on the affected

side. The diaphragm was in normal position on

the right and freely mobile but was not

demonstrable on the left. There was limited

motion on the left side of the chest. The

struc-tures in the mediastinum were markedly shifted

to the left. When inspiratory and expiratory

films were superimposed, there was negligible

difference in the 2 films. The conventional

frontal roentgenogram confirmed the

fluoro-scopic findings and showed a small area of

aeration in the upper one-third of the left

thorax and in the vicinity of the sternum (Fig.

4). This aeration of the upper one-third of the

left thorax had been progressive over a 12-year

period (Fig. 3). Bronchographic study failed

to show evidence of bifurcation of the trachea.

Angiocardiographic studies provided

consider-able clarification of the left chest findings

(Fig. 5). It may be seen that the heart is

dis-placed to the left and so rotated that the right

ventricle faces and is in close apposition to the

left axillary chest wall. The main stem

pul-monary artery is enlarged, takes an arched,

sweeping course from the left lateral chest

lCOS5 into the right chest without bifurcation

so that no left pulmonary artery branch is seen.

Tile arteries supplying the lung tissue in the

left chest arise as terminal branches of this

single pulmonary artery similar to the arteries supplying the lung tissue in the right chest. These findings substantiate the clinical impres-51011 of ageilesis of the left lung.

The intravenous pyelograms obtained

sub-sequent to the angiocardiogram on this patient

revealed a completely unsuspected finding of

pelvic location of the kidneys (Fig. 6). The

configuration indicates an anomaly, l)r0I1i)lY

of fused kidneys with short ureteral tracts on

either side of the bladder.

In view of the dilated pulmonary artery

demonstrated in the angio-cardiographic study.

it was considered of prognostic importance to

measure the pulmonary arterial resistance and

pulmonary arterial pressure. Right heart

cathe-terization was performed on July 7, 1954, and

the data is listed in Table I. It is to be noted

that there was no evidence of intracardiac

shunt and that the pulmonary capillary

pres-sures and resistances were within normal limits.

The right ventricular work was also within

normal limits. The cardiac output was elevated

but the patient was somewhat apprehensive

(luring the procedure.

Pulmonary function studies performed in

April, 1954, are tabulated in Table II. The

total hung volume was 62 per cent of the

predicted values. The vital capacity was 53

per cent of the predicted. The residual

capac-ity was 30 per cent of the total capacity in

contrast to the normal 18 to 23 per cent. This

increase in residual capacity is probably related

to compensatory distention of the right lung. Inasmuch as the lung of a 15-year-old is still

growing, the distention may not develop into

emphysema.

The reduction in maximum breathing

capac-ity as compared to predicted values is related

both to the decrease in lung volume and the

distortion of the mediastinal structures. The

rate of oxygen removal is normal and reflects

a high degree of efficiency of the circulation

in removing oxygen from the air ventilated.

This is indicated by the ventilatory equivalent

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TABLE II

OBTAINEn F1IIJM PULMONARY FIN TION

STii)IES OF (‘.sE 2

Lung Volumes

Actual

Total capacity in timi. 8304 .530t)

Vital capacity in ml. 341 4251

Inspiratory capa(it iii iii!. 1762 3401

Expiratory reserve in ml. 430 850

Residual capacity in nil. 1413 1047

Residual_capacity

-

----

---.-

30 18-23

Total capacity

J entilation (10(1 Oxygen Consumption

in liters/minute

Actual Predicted

Iaxiiiium breathing capacity in I/inin.

Illinute volume respiratioii in I/inin.

Oxygen coIlsUinpti( n/M2/ml.

1mm.

\eiitilatory eqiiiviileiit

61.00

.52

131 .00

1 .70

123.6

2.55 to 3.25

112 to 142

reduced in volume and in ventilatory capacity

but is functioning efficiently due to adequate

alveolar perfusion.

DISCUSSION

Two cases of agenesis of the lung have

been presented. A 5-week-old infant had respiratory difficulty on admission and a diagnosis was made of pneumonia and atelectasis. At post-mortem examination not

only was agenesis of the right lung

demon-strated but in addition congenital defects

of the heart and an anomaly of the urinary tract. In the 3-year-old child the diagnosis was suspecte(l from the “persistent atelec-tatic appearance” of the roentgenogram of the chest, although the patient was

corn-pletely asymptomatic then and has

re-mained so during the past 12 years.

The diagnosis of lung agenesis was con-sidered probable following the broncho-scopic examination. Even though this par-ticular study was not entirely satisfactory,

it was noted that the left bronchus was not

visible. Bronchograms had not been done

766

and the periodic roentgenograms over the last 12 years showed progressive aeration of lung tissue in the upper third of the left chest (Figs. 3 and 4). The patient was re-evaluated in 1954 in order to make a

defi---

. nite diagnosis and to assess the

cardiopul-Predicted

monary function.

This patient is a goo.d example of a case of congenital absence of a hung being labeled “persistent atelectasis.” Routine chest films were misleading in the differ-ential diagnosis. In this case, there has been a complete shift of the mediastinal struc-hires to the left. Angiocardiograms demon-strate the proximity of the heart to the left chest wall. Also the aorta, pulmonary vessels, and the trachea and esophagus are pulled to the left. Subsequently the right lung has cx-panded and become distended, as shown

by roentgenograms and pulmonary function

studies, to fill this area. It is not unusual at post-mortem to find the unaffected lung being multilobed,3 hyperdistended,4 shifted to the opposite side,5 or herniated through

______

the mediastinal structures to the opposite

side.’ Also in young growing individuals who have been pneumonectomized, this

dis-tention and shift may occur. According to

Coumand, this pulmonary distention after pneumonectomy does not appear to be a compensatory process but rather it depends strictly upon the prevailing mechanical con-ditions among which the flexibility of, and the presence of weak points into, the media-stinum are most important.#{176}

Bronchograms performed in 1954 were interpreted to indicate that the main stem left bronchus was absent.

Both of our patients were male, one hay-ing an absence of the left lung and the other the right lung. Lucas et a!.’ report the anomaly to be more common in males than in females by a ratio of 3 :2 and to be 3 times more frequently absent on the left than on the right.

Under Schneider’s classification,’ our

pa-tients would be of the Class I type. He

described 3 types of the anomaly.

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CLINICAL NOTES 767

Class II. Aphasia of a lung, where there is

rudimentary bronchus and no pulmonary

alveolar tissue.

Class III. Hypoplasia of a lung or part of a

lung, where the alveolar tissue is

under-developed.

An early diagnosis in this condition is

highly desirable. Just as the

pneumonecto-mized patients can be expected to have a

reasonable life span, these patients too, can

have a longer survival rate if they are

ade-quately I)rotectel from respiratory

infec-tions and embarrassment. In the absence of

other significant cardio-respiratory

anorna-lies, the prognosis for life in subjects with

agenesis of one hung is good, some such

sub-jects having reached ages of 72 and 75

years.’ Associated anomalies, especially of

the heart, and pulmonary infection may

al-ter the prognosis unfavorably.

In all cases associated defects,

particu-larly urinary, should be ruled out. As a part

of the routine technique of

angiocardio-graphic study in the cardiovascular

labora-tory, roentgenographic exposures made of

the kidney and bladder area have demon-strated an unsuspecte(l high incidence of

urinary tract abnormalities associated with

congenital cardiac anomalies.8

The presence of breath sounds on the

affected side does not negate the diagnosis

of agenesis of the lung inasmuch as growth

with enlargement of the one lung furnishes

the presence of pulmonary tissue and its

physical signs to the side of the absent

organ.’

The differential diagnosis should include

paralysis of the diaphragm, congenital

ab-sence of the pulmonary artery to either side but with lung present bilaterally, massive collapse or atelectasis of the hung,

dia-phragmatic hernia, and foreign body in the

bronchus.

SUMMARY

Two cases of agenesis of the hung, both

with anomalies of the urinary tract, have

been presented. In 1 patient the

diagno-sis was made at post-mortem examination at

the age of 5 weeks. Associated anomalies

in this patient included defect of the

inter-atrial septum, anomalous drainage of the pulmonary vein into the right atrium, and congenital bilateral ureterovesicle

obstruc-tion with dilatation of the ureters and

kid-ney pelves. In the second patient, the

(hag-nosis was made at the age of 3 years. A follow-up study 12 years later substantiated the diagnosis and revealed pelvic location of fused kidneys with short ureters

bilater-ally. In the latter case, the lung anomaly

has not resulted in any dysfunction of the

heart or pulmonary circulation. There has been some decrease in ventilatory function but not sufficiently severe to result in re-spiratory symptoms. This patient is living

and well at the time of this report.

ACKNOWLEDGM

ENTS

1. We are indebted to Dr. K. Albert Harden for the pulmonary function studies.

2. The autopsy was described by Dr.

J.

Kenney and Dr. Robert Jason.

REFERENCES

1. Lukas, Daniel S., Dotter, Charles T., and

Steinberg, Israel: Agenesis of the lung

and patent ductus arteriosus with reversal

of flow. New England

J.

Med., 249:107,

1953.

2. DeWeese, E. R., and Howard

J.

C., Jr.:

Congenital absence of a lung diagnosed

before death. Radiology, 42:389, 1944.

3. Ellis, A. G. : Congenital absence of lung.

Am.

J.

M. Sc., 154:33, 1917.

4. Heerup, L. : Case of absence of left lung.

Hospital, 70:1165, 1917; cited by

Hurwitz, S. and Stephens, H. Brodie:

Agenesis of lung; Review of the

litera-ture and report of a case. Am.

J.

NI. Sc.,

193:81, 1937.

5. Field, C. Elaine: Pulmonary agenesis and

hypoplasia. Arch. Dis. Childhood, 21:

61, 1946.

6. Cournand, A., Himmelstein, A., Riley, R. L., and Lester, C. W. : A follow-up study of the cardiopulmonary function in four

young individuals after pneumonectomy.

Thoracic Surg., 16:30, 1947.

7. Schneider, P., in Schwalbe, E. : Die

Mor-phologie der Missbildungen des

Men-schen und der Tiere. Jena,

C. Fischer,

3:817-821, 1909-1913.

8. Lawlah,

J.

W., Johnson, John B., and Fairley,

A. I.: Genito-urinary tract screening as a

routine procedure in angiography.

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1955;15;761

Pediatrics

Harriette Clark, Roland B. Scott and John B. Johnson

Patient; Hemodynamic and Angiocardiographic Findings in Another