A Case of the Omphalocele

The Discussion about the Frequent Combination of the Cardiac Malformation, and the Observation at the Early Non-Cyanotic Period of Fallot's Tetralogy

Zenshiro ONOUCHI, M.D., Takuji OOTSUKA, M.D., Eisuke OTABE, M.D., Hiroaki SASAGAWA, M.D.,

Yo TAKADA, M.D., and Masakatsu GoTO, M.D.

SUMMARY Even in the severe tetralogy of Fallot the performance of right ven-

tricle is maintained normally without loaded pattern in ECG compensated by the blood flow derived through the ductus arteriosus at early neonatal period.

Thereafter, stenotic murmur and reversed shunt appear, because the degree of right ventricular stenosis presumably increases gradually and right ventricular resistance") become higher than systemic one.

Additional Indexing Words : Omphalocele Liver Cardiac anomaly T/F Neonatal period

0MPHALOCELE is frequently complicated with congenital heart dis-

ease. Our case also had tetralogy of Fallot, and the containing organs

in the sac were liver and intestines. From the 31 cases of omphalocele

(middle celosomia) in the Japanese literature which were described relatively in detail, we found the intimate relationship between the malformations of

the heart and the development of the liver into the sac. Moreover, according to the observation of tetralogy of Fallot at the non-cyanotic and the transition-

al period to the persistent cyanosis, we discussed about the hemodynamic

change at the early infancy in tetralogy of Fallot.

CASE REPORT

A 3,060 Gm full-term boy with a omphalocele was born to a old primipara. In the pregnant course, mother had suffered from the genital bleeding from 1st to 5th month of gestation and she had been administered progesteron prepara-tion. Although the delivery was spontaneous and uneventful, he was immediately

From the Department of Pediatrics, Kyoto Prefectural University of Medicine, Kamigyo, Kyoto 602, Japan. Summary of this description was reported at Kyoto Regional Meeting of Japan Pediatrics Associa-tion in October 1968. Received for publication June 29, 1974.

211

212 ONOUCHI, ET AL. Jap. Heart J. March, 1975

Fig.1

Fig.2

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OMPHALOCELE AND CARDIAC MALFORMATION 213

Fig.3

taken to the Kyoto Prefectural University Hospital. Examination revealed an om-

phalocele located at the upper abdomen. The sac contained the liver, small in-testine, and large intestine, and it measured 7 cm in diameter (Fig.1). There was no evidence of other gross congenital malformation. The chest X-ray (Fig.2: A) showed descent of the diaphragm and the normal cardiac shadow with normal

pulmonary vasculature. Preoperative blood count showed normal values but the ECG (Figs.3, 4) disclosed the inverted P wave at the lead V1.

The operation was performed successfully by Dr. Satoshi Hagiwara, Associate Professor, First Department of Surgery, with replacement of abdominal organs into the abdominal cavity and closing the skin after the confirmation of missing the circulatory derangement in the lower extremities. During the postoperative period, the patient was administered oxygen supply by the 12th postoperative day. Since 4 days old the soft questionable systolic murmur sometimes was audible and became louder around 22 days old. The phonocardiogram (Fig.5) at 27 days old re-vealed the diamond-shaped systolic murmur with the maximum peak point in the early half of systole and the split second sound with small second component. There was no deviation of esophagus in L.A.O.

214 ONOUCHI, ET AL. Jap. Heart J. March, 1975

Fig.4

Although the patient was suspected having the cardiac malformation and

poor weight gain, 3,350Gm at 28 days old, the postoperative course was uneventful,

and so discharged. But mother had noticed the cyanosis at the crying and the

right inguinal hernia since I month old, and cyanosis became persistent around

one and a half months old. The ECG revealed the deep and slender P waves at

the right-sided precordial leads and deep S waves at the left-sided ones.

The patient readmitted at 3 months old with complaint of cyanosis. The

patient was a poor nourished blue baby, 3,850Gm in weight, with right inguinal

hernia. The soft and early systolic murmur, grade II/VI, and accentuated single

second sound was audible. Liver was felt 3 finger breadth below the sternum.

Routine laboratory examination revealed R.B.C. of 6.45•~106, Hb of 18.8Gm/

100ml, Ht of 59% and slight hyponatremia of 132mEq/L. The chest X-ray

showed descent of right diaphragm and so-called boot-shaped cardiac configulation

with decreased pulmonary vasculature in the F.V. (Fig.2: B). Since 3 months

old, he had suffered from vomiting almost always after the feeding. Alimentary

examination of the gastrointestinal tract by an oral and retrograde procedure dis-

closed the non-rotation and the retarded emptying of stomach. The catheterization

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OMPHALOCELE AND CARDIAC MALFORMATION 215

Fig.5

and angiocardiography (Fig.6) revealed severe tetralogy of Fallot with the narrow

segment at the right ventricular infundibulum. Catheterization was at first tried

from the right femoral vein but the catheter did not go into the right iliac vein for

the interruption. So the catheter was inserted from the left femoral vein but its

course was abberated, i.e. F.V.•¨1-lumbar vein•¨hemiazigos V.•¨azigos V.•¨

S.V.C.•¨R.A.•¨R.V. Fig.6: B showed also the intravenous pyelogram which noted

the elevation of both the kidney. Arterial blood gas analysis showed acidosis and

hypoxia, i.e. pH of 7.28, PO2 of 20mmHg, Sat. O2 of 30%, PCO2 of 47mmHg.

At 6 months old, the shunt operation (Cooley's procedure) was performed by Prof.

Isamu Hashimoto, Second Department of Surgery, but the patient expired due to

the arrhythmia and right heart failure, 5 hours after the operation.

Autopsy findings:

Gross findings were congestion of the various organs, systemic venous dilata-

tion, and atelectasis of both the lung following the operation, besides tetralogy of

Fallot, atresia of the external iliac vein, absence of inferior vena cava and mes-

enteria communis. Spleen was existent.

216 ONOUCHI, ET AL. Jap. Heart J. March, 1975

Fig.6

DISCUSSION

The theories of the etiology and embryology for omphalocele have been widely reported. Arey1) thought that an omphalocele would occur when the intestine did not return to the abdominal cavity or when it again passed into the cord after the primary withdrawal. But according to Ancel,2) the

prolapse of the intestinal loops into the exomphalos is the consequence rather than the cause of malformation. Duhamel,3) due to embryologic considera-tion, reemphasized the old study of Geoffroy Saint Hilaire4) who called as ' celosomia' a series of malformation which was caused by the inhibition of the morphogenic process of the closing the body of the embryo. And so Duhamel stated, "exomphalos is thus the result of a failure of morphogenesis; it is, therefore, a mostrosity". Omphalocele is one of the emergency opera-tions of the newborn. Mortality5),6) is especially decided with additional malformations and liver containing in the sac. Although it is understandable for the upper celosomia to associate with the cardiac malformation, it is obscure why the middle celosomia often complicates the cardiac anomaly. In the 31 cases of middle celosomia (Table I) in the Japanese literature, 9 cases had complicated with congenital heart disease, all of which had the defect of ventricular septum. Thus the association with cardiac malforma-

Vol. 16 No.2 OMPHALOCELE AND CARDIAC MALFORMATION 217

Table I. Omphalocele (middle celosomia)

(1)

: Mesenterica commune FO: Foramen ovate* Seems to be normal .

tion in the middle celosomia was totally 27% , and 80% of cases, which con-tained the liver in the sac, had the cardiac malformation . Cardiac malforma-tion may arise by the aberration of the vitelline vein , because the partitioning of the bulbar truncoconus is proceeded by the mechanical factor of the spiral blood flow experimentally (Bremer),19) beside by the intrinsic factor like

genes (Campell).20) Bremer made the hypoplasia of interventricular septum due to clamping of left vitelline vein. Absence of the inferior vena in frequent

association with omphalocele such as this case has been already reported

218 ONOUCHI, ET AL. Jap. Heart J. March, 1975

(Imaizumi).21) So we think that, when the sac contains the liver, the careful observation must be taken not only for the postoperatory compression of the circulatory and respiratory system, but also for the association of cardiac malformation.

The explanation for the existence of precyanotic phase in tetralogy of Fallot is still obscure. Taussig22) believed that the change from noncyanosis to cyanosis occurred with closure of the ductus arteriosus during the latter

part of the first year of life. But according to Edward,23) in most cases of tetralogy of Fallot, the ductus arteriosus is patent during the first 2 weeks after birth and then undergoes closure despite the desirability of continued

patency.An alternative explanation is that a moderate pulmonary stenosis con-

verts to a severe degree of obstruction with passage of time, resulting the more decreased pulmonary flow (Gasul et al24) and Gotsman25)), but in these reports all of the consecutive cases were after 6 months old at the first study. So they did not explain exactly the hemodynamics at the precyanotic period of Fallot's tetralogy, because cyanosis is noted in the major cases at any time in the first 6 months (Keith26)).

We had chance to study a severe tetralogy of Fallot at the precyanotic and transitional period.

The series of ECG disclosed the following:Inverted P waves in the right precordium seems to be due to the counter-

clockwise rotation of the heart and the posterior situation of the right atrium because of the descent of the diaphragm. So slender and inverted deep P

Vol. 16 No.2 OMPHALOCELE AND CARDIAC MALFORMATION 219

waves in the leads V2 and V2 indicated the right atrial enlargement and this appeared early at 17 days of age. The right ventricular hypertrophy ap-

peared after the 2 months old. It was concluded that at 2 days old the heart was hemodynamically normal, and thereafter the right heart was gradually loaded. Phonocardiogram at 27 days old already showed the infundibular stenosis and that of a typical severe tetralogy of Fallot at 3 months old. The erythrocytes count and cyanosis (Fig.7) revealed almost parallel relationship in spite of the physiologic suppressed period of erythropoiesis (Anthoff et al27),

Johnes et al,28) Halvorsen et al29)), and cyanosis indicated the hypoxia, i.e. reversed shunt.

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