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Frederick N. Firestone, M.D., Robert W. Popper, M.D., Hooshang Taybi, M.D.,

and Richard Leonards, M.D.

From the Departments of Surgery, Radiology, and Pediatrics of the Children’s Hospital and Adult

Medical Center, and the Cardiopulmonary Laboratory of the Presbyterian Medical Center, San Francisco, California

(Received November 21, 1966; revision accepted for publication March 21, 1967.)

This study was supported in part by U.S. Public Health Service grants HE. 06311 and HE. 05498.

ADDRESS: (F.N.F.) 3600 California Street, San Francisco, California 94118.

PEDIATRICS, Vol. 40, No. 3, Part I, September 1967 329



is not uncommon as a birth defect. This

anomaly has been associated with

hypo-plastic lungs exhibiting either abnormal or

incomplete pulmonary development.

The hpoplastic left heart complex

in-eludes atresia of the aortic valve, mitral

valve or transverse aortic arch and

under-developed ascending aorta as isolated,

par-tial, or combined lesions.

Brundelet and Sucksdorff I have published

the only previous report of the above


defects in combination. An infant with

hypoplastic left heart and right-sided

di-aphragmatic hernia had hemodynamic and

angiocardiographic studies 1 month

follow-ing successful repair of the diaphragm.

These studies, autopsy findings, and a

re-view of tile literature follow.


T.C.P. was admitted to Children’s Hospital of

San Francisco at 36 hours of age. This was the

second pregnancy for the 21-year-old mother

whose first pregnancy produced a boy with

ecto-dermal dsplasia. There were no other known

con-genital defects in the family. The mother had a

3-day episode of limited vaginal bleeding in the tenth week of this pregnancy.

Labor and deliven’ were uncomplicated and the

birth weight was 3,300 gm. Color, cry, and

res-pirations were normal (Apgar 8). One hour after

delivery, respiratory distress began with tachypnea

and cyanosis. The baby improved in an Isolette

with oxygen. X-ravs showed right hemidiaphragm

elevation, shift of the heart and mediastinum to

the right, and a prominent vascular pattern. Re-spiratory distress was only partially relieved by yen-tilatory assistance and the baby was transferred to

this hospital.

Physical Examination

This full-term, active baby was well developed

and hydrated with moderate cyanosis in oxygen

and a respiratory rate of 120 per minute. The

pulse rate was 140 per minute. Excessive foamy

saliva was noted, but a nasogastric catheter

re-vealed no esophageal obstruction or atresia. There

was decreased excursion of the right lower chest with marked diminution of the breath sounds.

A grade IV/VI systolic murmur was heard along

the left mid and upper sternal borders with

radia-tion to the scapular area. The pulmonic second

sound was single and accentuated; a right

ven-tricular lift was present. There was no

hepato-megaly. The abdomen was not scaphoid, and no

mass or hernia was present. The baby had male genitalia with hypospadius, bifid scrotum, and a

penineal urethra. Femoral pulses were full. The

extremities were free of edema.


Complete blood count, urinalysis, and electro-lytes were within normal limits. Buccal smear was

negative for Barr bodies and a normal male

chro-mosomal karyotype was present. The arterialized-capillary pH was 7.28 and the was 40.5.

Hospital Course

The blood pH was corrected by serial doses of

parenteral sodium bicarbonate. however, P02 rose

progressively. Penicillin and kanamycin were

given. Subsequent blood and bronchoscopic

cul-tures were sterile. Chest films and cinefluoroscopy

at 3 days of age suggested hemiation, eventration,

or duplication of the right diaphragm or a mass

such as a sequestrated lobe or intrathoracic liver.

The heart size was within normal limits. On the

fifth day of life, a diagnostic pneumopenitoneum

revealed a right Bochdalek hernia containing liver within its sac (Fig. 1). He was taken to surgery.


Under endotracheal halothane-oxygen anesthesia,


sub-FIG. 1. Diagnostic pneumopenitoneum. Top, fron-tal view shows a right diaphragmatic hernia.

Bot-tom, all elongated hepatic appendage fills the

thonacic gutter and constitutes the posterior wall of the hernial sac in the lateral view.

costa! incision. The right diaphragm was high

with the right hepatic lobe occluding the hernial

ring. The caudate lobe extended as an appendage

into the chest and was fixed in the paravertebral

gutter as high as the azygos vein. The liver was

freed by sharp and blunt dissection and returned

to the abdomen. The hernial sac was excised and the diminutive, but completely formed, lung

ex-panded slightly with respiration. The hernia was

repaired by imbnicating the diaphragm with two

layers of interrupted silk sutures. The pleural ca’-ity was drained to underwater sea!. Ladd’s bands

and malrotation were absent. The abdomen was

closed in layers without compression of the

dia-phragm or inferior cava.

Postoperative Course

Cardiac arrest occurred tsvice in the initial 8

hours. Resuscitation was rapid and successful. The

baby required respirator assistance, frequent

sue-tioning of pulmonars secretions, and digoxin.

Roentgenograms on the third postoperative day

showed complete atelectasis of the night lung.

Bronchoscopy revealed severe endobronchial edema

obstructing the intermediate bronchus. Frequent

intermittent positive pressure therapy with iso-protereno! and warm, humidified oxygen was


Serial roentgenograms showed increasing right

atnial and ventricular enlargement. There was pro-gressive expansion of the right lung and the right diaphragm moved with respiration. In spite of

improved aeration and a normal pH, the Pco. rose to 74 with a base excess of +16 and an actual

bicarbonate of 45.9 mEq/l. Cyanosis increased,

and there was failure to gain weight, although

adequate feedings were taken. The baby was

transferred to Presbyterian Medical Center in San Francisco at 1 month of age for cardiovascular studies.

Cardiac Evaluation

Severe right ventricular hypentnophy was

pres-ent in the electrocardiogram. Catheterization was

performed via the right saphenous vein. The right heart was studied and the left atrium was entered

through a small fonamen ovale. Persistent efforts to enter the left ventricle via tile mitral valve

orifice were unsuccessful. Figure 2 shows the hemodynamic findings. Left atrial oxygen

satura-tion was 96%. There was marked left atria!

hyper-tension with an appreciable pressure gradient

be-tween the atria permitting left-to-night shunting

of the limited pulmonary venous return. Systemic

pressure was present in the right ventricle.

Selec-tive angiocardiography, performed from the right

ventricle and left atrium, demonstrated a

diminu-tive left ventricle with atresia of the outflow tract. The entire systemic circulation and coronaries were

supplied through the large ductus arteniosus.

Progressive congestive heart failure followed

cardiac catheterization. Creation of a large atrial

septal defect by balloon catheter or using hypo-thermia and inflow occlusion would have impnoved

oxygen mixing and systemic saturation, but it was

felt that the failing right ventricle could not



and expired 36 hours later despite aggressive

suscitative efforts.

Autopsy Findings

The heart weighed 25 grn, which is normal for

this age. The left ventricular outflow tract was

atretic for at least 1 cm. The aortic valve was absent. The ascending aorta measured 4 mm in

di-ameter and the main pulmonary artery was 20

mm in diameter. The coronary arteries were small

but normal in position. The free wall of the left

ventricle was 1.5 mm in thickness compared to

6 mm in the right ventricle. The left atrium was

hypoplastic, and the mitral valve orifice measured

3 mm. There were no valve leaflets. A 2 mm

l)ttent foramen ovale led to a very large right


Repair of the right diaphragm was intact and

the hemithorax was free of adhesions. The left

lung weighed 34 gm, the right only 18 gm

Neither lung revealed persistent fetal pulmonary

vasculature or malformed bronchi. Bilateral

patches of atelectasis and acute pneumonitis were

found with areas of confluence on the right.

There was evidence of passive congestion of

the liver. Normal testes were found at the internal

abdominal rings.


Posterolateral diaphragmatic hernia re-sults from imperfect development of the pleuroperitoneal membrane. The intestine returns to the abdomen from the umbilical cord during the tenth week of fetal life.

However, the full prenatal plan of the

lung-accomplished by 17 generations of pulmo-nary branching-is not completed until early

in the sixth month.2 The defective

dia-phragm presents ready access for the

re-turning abdominal viscera into the thorax. Areechon and Reid3 have made complete

serial sections of the lungs from neonates

dying with congenital diaphragmatic hernia.

They have shown that the number of bron-chial branchings is proportional to the space available and inversely proportional to the

size of the hernia. The contralateral lung is

affected, although to a lesser degree, by mediastinal shift. The weight of the fetus or its overall maturity did not correlate with

the occurrence of hypoplastic lungs.

Perinatal mortality studies by Butler and Claireaux’ indicate that babies with large

defects, hpoplastic lungs, associated

con-Frc. 2. Catheterization data obtained during

oxy-gen breathing are superimposed on a diagram of

the heart. Oxygen saturations are indicated in per-cent, pressure in mm Hg, and directions of flow

by arrows.

genital anomalies, and prematurity rarely survive long enough to be transferred from maternity hospitals for treatment. Their lungs may weigh only 1 to 2 gm and have malformed bronchi and vessels. The expe-rience in children’s hospitals usually deals

with larger babies whose ipsilateral lungs

may be small but not abnormal in

architec-ture. In this group, early surgery is the only factor which significantly increases survival.

Table I indicates the lateralization of pleuroperitoneal hernias, the operative sur-vival, and the frequency of concomitant

birth defects of the heart in several large

series of patients. Of 340 infants with

p05-terolateral diaphragmatic hernia, only one

had a hypoplastic left heart.

This patient’s cardiac anomaly belongs to the hypoplastic left heart syndrome, as first




Author A\umber of hernia on

Cases Left

Hernia on Right

Operatire Mortality

Coincidental Ilypo plastic heart Left

. ii ear!

Raffes5 Bonham-Iarter, Waterston, and Aberdeen6 Butler and Claireaux4 Cenilli7 Gross8 Snyder and GreaIiy9 47 5’2 60 35 8 64 36 4 55 (+1 Bilateral) 9 69 52 (+1 Bilateral) 11 10 4 6 18 11 (<3 wk)

lt7 (>1 mo)

autopsy study l8% 13 50 (<72 hr)


-0 0 6 -11 0 - -2 1

Totals 340 283 (4.4:1) 55 25 19 1

were both aortic atresia and hypoplasia of the mitral valve orifice without identifiable valve leaflets. The ventricular cavity is

al-ways extremely small. The wall may be

thick, when the mitral valve orifice is

ade-quate, or very thin as in our patient.1’ It is

of interest that biplane angiography gave

the impression that this was probably a

thick-walled left ventricle. This can be ex-plained by the incorporation of the left yen-tricle almost completely into the right yen-tricular wall.

T.C.P. lived considerably longer than

most infants with hypoplastic left heart and

did not exhibit a great degree of cardiomeg-aly on x-ray examination. Seventy-five per-cent of these infants die within the first week of life.1’ Cyanosis, a single second

heart sound in the pulmonic area, a systolic

murmur, relatively weak brachial pulses due to hypoplasia of the proximal aorta, and pathological right ventricular hyper-trophy on the electrocardiogram are charac-teristic of the syndrome. The rapid respira-tory rate without retraction suggests pul-monary venous obstruction, in this case due

to the difficulty that the blood has in

escap-ing from the left atrium. However, a

definitive diagnosis must be reached with the aid of selective angiocardiography in order not to overlook an operable lesion.

Four patients with diaphragmatic hernia were found among 50 cases of cardiovascu-lar anomalies of all types,12 and there were 5 instances in a group of 101 patients with hypoplastic left heart.13 It appears that tile majority of patients with diaphragmatic hernia seen at autopsy have cardiovascular malformations, while those who live do not. Richards12 noted that only 4 patients out of

a group of 22 surviving with diaphragmatic hernia had heart disease. In an equal group

seen at autopsy there were 10 and possibly 14 patients with heart disease. The progno-sis of an infant with hernia of the di-aphragm is very strongly influenced by the presence or absence of an associated car-diac defect, since the diaphragmatic defect already compromises pulmonary and car-diac function.

Until recently, all therapeutic efforts for hypoplastic left heart were only

symptom-atic as the prognosis for this condition was

regarded as hopeless. Noonan and Nadas13

suggested creating a large atrial septal

de-fect to permit left atrial, oxygenated blood

to enter the systemic circulation by way of the right ventricle and ductus as a

pallia-tive measure. It would be hoped that this would carry the child until surgery, to open the atretic ventricular outflow tract


feasible with cardiopulmonary bypass.

Coo-icy and Hallman14 now have successfully

operated on several infants and created an interatrial defect for this anomaly. The bal-loon catheter employed by Rashkind15 to make such palliative defects in

transposi-tion of the great arteries might be of use in

hypoplastic left heart. It has the merit of

simple application in the catheterization laboratory during diagnostic examinations.

In this case, the left atrium was too small to permit adequate entrance of the catheter for balloon inflation. It is stressed that it is

unusual for an infant to survive this condi-tion to this age and that diagnosis and

treatment must be made in the newborn period in order to relieve the left atrial hy-pertension and systemic desaturation.


An infant with the rare combination of congenital diaphragmatic hernia and hypo-plastic left heart has been reported. Al-though herniated viscera in the chest impair bronchial division and cause hypoplastic

lungs, this patient demonstrated lung growth and histologic maturation after successful

correction of the diaphragmatic hernia. No subsequent change of the hypoplastic left heart toward normal occurred. There is no

apparent causal relationship between these

two defects.

Creation of an atrial septal defect has been useful in the treatment of hypoplastic left heart. Further clinical trials are encour-aged.


1. Brundelet, P. J., and Sucksdorff, J.: The

car-diovascular component of congenital

dia-phragmatic hernia (presentation of three

cases). Acta Paediat., 53:385, 1964.

2. Arey, L. B.: Developmental Anatomy.

Phila-delphia: W. B. Saunders Co., p. 263, 1954.

3. Areechon, W., and Reid, L.: Hypoplasia of

lung with congenital diaphragmatic hernia.

Bnit. Med. J., 1:230, 1963.

4. Butler, N., and Claineaux, A. E. : Congenital

diaphragmatic hernia as a cause of

pen-natal mortality. Lancet, 1 :659, 1962.

5. Baffes, T. C. : Diaphragmatic hernia, In

Ben-son, C. D., Mustard, W. T., Ravitch, M. M.,

Snyder, W. H., Jr., and Welch, K. J., ed.:

Pediatric Surgery. Chicago: Yearbook

Pub-lishens, p. 257, 1962.

6. Bonham-Carter, R. E., Watenston, D. J., and

Aberdeen, E. : Hernia and eventration of

the diaphragm in childhood. Lancet, 1:656,


7. Cerilhi, C. J.: Foramen of Bochdalek hernia:

A review of the experience at Children’s Hospital in Denver, Colorado. Ann. Surg.,

159:385, 1964.

8. Gross, R. E.: Surgery of Infancy and

Child-hood. Philadelphia: W. B. Saunders Co., p. 441, 1953.

9. Snyder, W. 11., Jr., and Gneaney, E. M., Jr.: Congenital diaphragmatic hernia; 77 consec-utive cases. Surgery, 57:576, 1965.

10. Lev, M.: Pathologic anatomy and

interrelation-ships of hypoplasia of the aortic tract

com-plexes. Lab. Invest., 1:6, 1952.

11. Casul, B. M., Arcilla, R. A., and Lev, M.:

Heart Diseases in Children. Philadelphia: J. B. Lippincott and Co., p. 640, 1966. 12. Richards, M. R., Merritt, K. K., Samuels,

M. H., and Langmann, C. C.: Congenital

malformations of the cardiovascular system

in a series of 6,053 infants. PEDIATRICS, 15: 12, 1955.

13. Noonan, J. A., and Nadas, A. S.: The hypo-plastic left heart syndrome. Pediat. Clin. N.

Amer., 5:1029, 1958.

14. Cooley, D. A., and Haliman, C. L.: Personal

communication, 1967.

15. Rashkind, W. J., and Miller, W. W.: Creation

of an atrial septal defect without

thoracot-omv-A palliative approach to transposition of the great arteries. J.A.M.A., 196:991, 1966.


The authors thank Drs. Richard C. Clark, Borina Dramov, William Dubilier, Robert J. Kleinhenz,

and David Linder for their contributions in the

care of this infant and to this work. Illustrations




Frederick N. Firestone, Robert W. Popper, Hooshang Taybi and Richard Leonards

HEART: A Case Report and Discussion


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