Thoracoabdominal Ectopia Cordis With Mosaic Turner's Syndrome: Report of a Case Arthur Garson, Jr., Edith P.

Hawkins, Charles E. Mullins, Sam B. Edwards, David C. Sabiston, Jr. and Denton A. Cooley Pediatrics 1978;62;218-221

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PEDIATRICS is the official journal of the American Academy of Pediatrics. A monthly publication, it has been published continuously since 1948. PEDIATRICS is owned, published, and trademarked by the American Academy of Pediatrics, 141 Northwest Point Boulevard, Elk Grove Village, Illinois, 60007. Copyright 1978 by the American Academy of Pediatrics. All rights reserved. Print ISSN: 0031-4005. Online ISSN: 1098-4275.

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Thoracoabdominal Syndrome: Report

Arthur Garson, Jr., M.D.,

Ectopia Cordis of a Case

Edith P. Hawkins, M.D.,

With

Mosaic

Turners

Charles

E. Mullins, A. Cooley,

M.D., M.D.

Sam

B.

Edwards,

M.D.,

David C. Sabiston,

Jr., M.D.,

and Denton

From the Department of Pediatrics (Section of Cardiology) and Pathology, Baylor College of Medicine and Texas Children s Hospital, and the Department of Surgery, Texas Heart Institute, Houston; and the Departments of Pediatrics and Surgery, Duke LTnicersity Medical Center, Durham, North Garolina

ABSTRACT. A child was treated for thoracoabdominal ectopia cordis and an associated chromosomal defect. Contrary to most cases in which death is due to the externally situated heart and abdominal viscera, this patient died from congenital heart disease. Pediatrics 62:218-221, 1978, thoracoabdominal ectopia cordis, mosaic Turners syndrome, congenital heart (lisease.

main pulmonary artery and ascending aorta appeared to lie side by side (Fig. 1). Chromosomal analysis of 30 lymphocytes revealed 5 cells with 45 (XO/XX) and 25 cells with 46(XX), consistent with mosaic Turners syndrome. She became progressively more cyanotic, and at age 4 months a right Blalock-Taussig (subclavian to pulmonary artery) anastomosis was performed. The cyanosis improved initially, but by 10 months of age the patient again became more cyanotic and easily fatigued and required another operation. A Dacron tubular graft (5 mm in diameter) was anastomosed between the side of the ascending aorta and the the side of the main pulmonary artery. During this procedure, a

The
viscera

externally
in

situated mortality. previously

day

heart
ectopia

and

abdominal
cordis result

defect

thoracoabdominal

in a high children
died by

perinatal reported
the second

Twenty-six with this

of the 36 syndrome

of life.

in the anterior part of the diaphragm was closed, as was the defect in the anterior part of the abdominal wall. Attempts to place the heart completely within the chest cavity were abandoned because of a fall in blood pressure associated with this maneuver. As niuch of the heart as possible was placed within the chest, and the skin was closed
over

This morbidity resulted

thorax,

report concerns a child in whom the of thoracoabdominal ectopia cordis not because the heart was outside the
but rather because of the intracardiac

it.
Three

defects associated with the syndrome. was also found to have an associated defect.

This infant chromosomal

months later, at age 13 months, she was examined at Texas Childrens Hospital after the familys move to buston. In the three months since her last operation, she had again become progressively cyanotic and tired after taking a few steps in a walker. She had learned to roll only to either

side

and

voluntarily

avoided

assuming

the

prone

position.

her

CASE REPORT
infant weighed 2,610 gm at birth after a 36-week, uncomplicated gestation. The mother was 22 years old. The family history revealed that the patients great uncle had l)eeI3 born with an omphalocele and had died shortly after birth. The 1)atieIt was born on July 21, 1975, after a vertex delivery. At birth, a large anterior thoracic and abdominal wall defect was present, and on the first day of life an operation was performed in which the patients skin was used to cover the entire defect. At 10 days of age, severe cyanosis developed, and cardiac catheterization revealed an externally located, normal-sized left ventricle and diminutive right ventricle. The atria were situated within the

A female

was normal. at 13 months (Fig. 2), she was alert amid happy. Her weight was 7.6 kg (less than the third percentile). She was intensely cyanotic at rest. The neck was short and slightly webbed, and the nipples were close to the anterior axillary lines. There was a skin-covered defect in the anterior part of the thoracic and abdominal wall through which the heart protruded 4 cm with inspiration amid 7 to 8 cm with expiration. There was a grade 2/6 high-pitched systolic ejection murmur at the second right intercostal space. There was moderate clubbing of the nail beds. Cardiac catheterization confirmed the findings of the previous study and, in addition, demonstrated patency of

neurological On physical

development examination

Received

October

17,

1977;

revision

accepted

for

publica-

thoracic cavity. The intracardiac defects consisted of tricuspid atresia, large ventricular septal defect, and infundibular pulmonic stenosis. There was visceroatrial situs solitus with dextrorotation of the ventricles so that, in the lateral view,

tion February 3, 1978. ADDRESS FOR REPRINTS: Texas Childrens Ilospital,

77030.

(AC.) 6621

Pediatric Fannin,

Cardiology, Houston, TX

218

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4,

r-Vta

PkAnastomo.mB

1. Diagram of heart. (A) Anterior view at postmortem examination. Blood flow was from systemic venous circulation to right atrium to atrial septal defect to left atrium mixed with pulmonary venous blood) to left ventricle. From left ventricle, part of blood passed through ventricular septal defect to right ventricle and pulmonary artery; other part of blood passed to aorta. Portion of aortic blood was diverted to pulmonary circulation via (1) right Blalock-Taussig anastomosis, (2) Dacron graft, and (3) Potts anastomosis. (B) Lateral view of chambers and great vessels based on angiocardiogram. Ao = aorta, ASD = atrial septal defect, ATV = atretic tricuspid valve, CS = coronary sinus, LSVC = left superior vena cava, LV = left ventricle, MV = mitral valve, PA = pulmonary artery, RA = right atrium, RBT = right Blalock-Taussig anastomosis, RSVC = right superior vena cava, RV = right ventricle, VSD = ventricular septal defect.
FIG.

FIG.

2. Patient
of

at age
much of

part
in

thoracoabdominal

13 months. wall
heart as

The 7-cm defect in anterior was residual from operation

possible was placed within

which

as

thorax. ventricle clubbed

Remaining outside chest and most of left ventricle. and darkened digits, and nipple.

were diminutive Note also webbed laterally displaced

right neck, left

both surgical anastomoses. The pulmonary blood flow appeared diminished angiographically. At the age of 15 months, a 5-mm Potts (descending aorta to left pulmonary artery) anastomosis was performed without difficulty. In the immediate postoperative period, the patient developed puliiionary edema that was felt to be secondary to the excessive pulmonary blood flow. On the seventh postoperative day, she had a respiratory arrest following an inhalation treatment, and she died.

Postmortem
The heart, covered
protruded through a

Findings

right atrium was normal. In addition, a persistent left superior vena cava drained to the right atrium through a dilated coronary sinus. A secundum atrial septal defect, measuring 2 x 1 cm, was present. The tricuspid valve was atretic. The right ventricle consisted of only a small outflow chamber with infundibular stenosis. A small, but normally formed, pulmonary artery arose anteriorly from the right ventricle. The leftward displacement of the right ventricle presumably resulted from the chest deformity (Fig. 3). A defect in the muscular ventricular septum measuring 1.2 x 0.5 cm connected the rudimentary righ{ ventricle with the morphologic left ventricle. The anterior papillary muscle of the left ventricle was compressed against the ventricular septum. A second, smaller ventricular septal defect was located adjacent to the anterior papillary muscle. The mitral valve had fibrous colitinwty with both the left and the noncoronary cusps of the aortic valve. Other findings included a short, webbed neck amid surgical sutures in the left hemidiaphragni amid anterior part of the abdominal wall. The urogenital tract, imichmding ovaries, was normal.

by skin and subcutaneous tissue, midline bony defect which measured 7 x 6 cm. The superior margin of the defect was formed by a short sternum (4.5 cm in length) with a wide inferior split; the 9th through 12th ribs curved sharply upward to form the lateral walls of the defect. The aorta arose from the base of the heart to the right of, and parallel to, the main pulmonary artery. The three surgical systemic to pulmonary artery anastomoses were patent. Systemic venous drainage to the

DISCUSSION
Chromosomal Anomalies-Ectopia Cordis Relationship An etiology for thoracoabdominal ectopia

cordis has yet to be found, and associate causally the midline

it is tempting defect with

to an

ARTICLES

219

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patients

were

atrial

septal

defect
and Two

with

ventricular

septal defect diverticulum

(13 patients) (9 patients).

left ventricular previous cases

have been reported with tricuspid atresia. Interestingly, the patients great uncle also had a midline abdominal wall defect, and it is possible that a familial predisposition for this type of
defect evidence exists. to We link believe the that there is insufficient anomaly with chromosomal

the

ectopia

cordis
that

in
patients

this

child.
with

However,
cordis

we
be

recommend

ectopia

tested for chromosomal a causal relationship

Morbidity

aberration exists.
Cordis

to determine

if

of Ectopia

fled pia

Although the exact cause in many case reports, cordis of children who died

of death it seems

is unspecithat the hours ectodid than of heart ectopia

majority

with thoracoabdominal within the first 48

so from complications of the thoracic and

of an open
abdominal

anterior
wall, rather types

portion

from congtnital heart disease. The disease That occur with thoracoabdominal

cordis
death. ated rupture

are not usually Such complications heart of can include difficulty abdominal

associated of an cardiac viscera from

with neonatal ectopically situcompression during visceral delivery, herniaor

cardiorespiratory

lion
Most able ation

into
with has

the

thorax,
complications

and

sepsis
are For

from
currently this in

peritonitis.
remedireason, operthe neonatal

of these

surgical been

therapy. recommended

Fmc. 3. Anterior stmrface of heart at postmortem examination. Aorta (Ao) is to right and parallel to maimi pulmiionary artery upper white arrow). Pimlmnomiary outflow tract is to left and anterior (lower white arrow). Dacron graft extends from ascending aorta to main pumlmonary artery. Left ventricle extends posteriorly and forms part of right cardiac border black arrow).

Therefore, the major morbidity and mortality be related less to the protruding heart and abdomen than to congenital heart disease. Our patient illustrates this principle. She had no cardiorespiratory distress at birth and had uneventful primary closure of the thoracic defect. It was impossible to place the heart within the thorax when this was attempted at 10 months of age. This made it awkward to handle the infant, but the mother avoided holding the child tightly.
may At the time of her ning to walk (and death, the patient fall) and a harness was was beginbeing

abnormal

chromosome

complement

Our

patient

had

genotype (XO/XX). However, the type usually

syndrome (coarctation

the

of mosaic Turners the cardiac defect associated with

of the aorta) or

syndrome was not of Turners

Turners

fashioned to protect the surgical insertion

Including our patient,

her chest. We anticipated of an artificial sternum.

30 of the 37 children

mosaic disease (pulmonic stenosis).2 The patient also had ectopia cordis in which the body wall remains unclosed as far as the umbilicus, the diaphragm has a \ -shaped hiatus, the anterior and inferior regions of the pericardium may be absent, and the heart is congenitally malformed.
In the series reported by Toyama, the predomi-

reported with thoracoabdominal ectopia cordis have died. However, the majority of these children did not have the benefit of modern neonatal care. We believe that with aggressive management, many of these children will survive the be

perinatal
defects

period. Since most of the intracardiac are amenable to surgical repair, it may

nant

types

of

congenital

heart

defect

in

36

possible

for these

children

to reach

adulthood.

220

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4.

Milder
of

DG,

Cnittenden
of

IH, Adams
congenital

Fh:
defects

Complete

REFERENCES
1. Toyama WM: Combined congenital defects of the anterior abdominal wall, sternum, diaphragm, pencardium and heart: A case report and review of the syndrome. Pediatrics 50:778, 1972. 2. Nora JJ, Torres FG, Sinha DK, McNamara DC: Charactenistic cardiovascular anomalies of XO Turner syndrome, XX and XY phenotype and XO/XX Turner mosaic. Am J Cardiol 25:639, 1970. 3. Gray SW, Skandalakis JE: Embryology for Surgeons. Philadelphia, WB Saunders, 1972, pp 399-405.

a syndrome

abdominal wall, sternumm, diaphragm, and heart: Excision of left ventricular Ann Surg 151:113, 1960. 5. HallerJA, Cantrell JR: Diagnosi and surgical correction of combined congenital defects of the supraumbilical abdominal wall, lower sternum and diaphragm. I Thorac Cardiovasc Surg 51:286, 1966. 6. Reese HE, Stracener CE: Congenital defects involving the abdominal wall, sternum, diaphragm and pencardiu,m. Ann Surg 163:391, 1966.

repair the penicardium diverticulum.

involving

TEACHING

THINKING

Once

theyve

learned

how

expert

thinkers

think,

how

do

scientists

teach

what theyve learned to novices? Certainly not by lecturing. During a lecture, said Robert E. Sparks of Washington University in St. Louis, Mo., the only mind working at reasonable efficiency is that of the lecturer. That is why cognitive scientists require students to take an active part in learning how
to think. The origins of this new view are quite old, Dr. Lochhead observed,

and
him

he quoted
to find

Galileo:
it within

You
himself.

cannot

teach

a man

anything;
V.

you
ADAMS

can

only

help

Submitted

by

Student

From

Adams

V: Thinkers

think

about

teaching

thinking.

New

York

Times,

June

25,

1978.

ARTICLES

221

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Thoracoabdominal Ectopia Cordis With Mosaic Turner's Syndrome: Report of a Case Arthur Garson, Jr., Edith P. Hawkins, Charles E. Mullins, Sam B. Edwards, David C. Sabiston, Jr. and Denton A. Cooley Pediatrics 1978;62;218-221
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