Copyright C Acta Radiologica 2000

Acta Radiologica 41 (2000) 371–374
Printed in Denmark ¡ All rights reserved

AC TA R A D I O L O G I C A
ISSN 0284-1851

INTRACARDIAC TUMOUR AND BRAIN LESIONS IN
TUBEROUS SCLEROSIS
A case report of antenatal diagnosis by ultrasonography
J. C1, E.-L. L2 and E. V2
Departments of 1Radiology and 2Paediatrics, Tawam Hospital, UAE University, Al Ain, Abu Dhabi, UAE.

Abstract

A case of antenatal tuberous sclerosis was diagnosed by ultrasonography.
Intracardiac tumour (highly suspected rhabdomyoma) with transitory heart
failure and multiple brain lesions were observed. After delivery, echocardiography, spiral CT and MR imaging diagnosis of tuberous sclerosis was confirmed
by typical skin lesions (depigmented macules) and development of seizures.

Key words: Tuberous sclerosis; heart,
neoplasms; brain lesions;
ultrasonography.
Correspondence: Janusz Czechowski,
Ynglingagatan 11,
SE-113 47 Stockholm, Sweden.
FAX π46 8 30 94 90.
Accepted for publication 31 January
2000.

Tuberous sclerosis (Bourneville Pringle disease) is
an autosomal dominant congenital disease due to
gene locus in chromosomes 9 and 16. The disorder
has widespread potential for hamartomatous
growths in multiple organ systems (6, 9). The clinical manifestations include the following: 1) Skin
lesions: fibrous-angiomatous lesions (adenoma sebaceum), pigmented naevi, leucoderma (depigmented macules). 2) Neurological: seizures, mental
deficiency, developmental deficiency. 3) Cardiovascular: hypertension, aneurysms, cardiac rhabdomyoma, arrhythmias, heart failure. 4) Renal: angiomyolipomas, renal failure, renal haemorrhage.
5) Respiratory system: cor pulmonale, pneumothorax. 6) Retinal: phacomas.
The incidence of cardiac tumours in foetuses or
neonates is 0.1% in paediatric cardiac units and
0.0017–0.25% in post-mortem data (5). Rhabdomyoma is the most common intracardiac tumour in
this group of patients and in 51–86% associated

with tuberous sclerosis (4, 5). We present a case of
this rare congenital anomaly, mostly described in
paediatric and cardiology literature. To our knowledge, antenatally diagnosed intracardiac tumour
with foetal heart failure and subsequent treatment
is exceptional.
Case Report

In 1998, a case of cardiac tumour was diagnosed
during a routinely performed antenatal ultrasonographic (US) examination at the 31st week of pregnancy in a healthy woman aged 41 years. The
child’s father was also healthy.
US revealed a cardiac tumour approximately
31¿22 mm in size located in the right atrium and
the right ventricle with involvement of the interventricular septum (Fig. 1a). Subsequent antenatal
examinations showed increasing cardiac tumour
size and slight hydrops was noticed. In the foetal
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J. CZECHOWSKI ET AL.

Fig. 1. a) Atenatally performed US at 31st gestation week showing intracardiac tumour (31¿22 mm). b) Postnatal US of the heart
in a four-chamber view. Rhabdomyoma occupying the right atrium and the right ventricle with involvement of the interventricular
septum. (RA right atrium, RV right ventricle). c) Postnatal US of the brain showing a tuberous lesion in the right hemisphere close
to the corpus callosum indenting the anterior horn of the right lateral ventricle.

peritoneal cavity, slight amounts of free fluid and
dilated vena cava inferior and hepatic veins were
present as evidence of heart failure. Arrhythmias
were also revealed. A few intracerebral lesions were
diagnosed, including one 13¿11 mm lesion located
periventricularly on the right side and subependymal in the left ventricle’s anterior horn. Tuberous sclerosis was strongly suggested.
Delivery was performed by Cesarean section be-

Fig. 2. CT of the brain showing the right hemispheric lesion
(15¿16 mm) lateral to the anterior horn of the right ventricle.
There are small subependymal lesions in the left lateral ventricle. Brain gyri located frontotemporally on the right side
show abnormal size and shape due to tuberous sclerosis.

cause of antepartum vaginal haemorrhage at 36
weeks.
Echocardiography confirmed prenatally diagnosed intracardiac tumour, which was well seen in
a four-chamber view (Fig. 1b) occupying most of
the ventricular cavity and 40¿22 mm in size.
US of the brain revealed one 16¿11-mm solid
mass in the right hemisphere and small subependymal lesions in the left lateral ventricle (Fig. 1c).
CT demonstrated slight hyperdense lesions adjacent to the corpus callosum and the anterior
horn of the right lateral ventricle, and three
smaller lesions subependymally in the left lateral
ventricle. Abnormal gyri could be seen at the surface of the brain temporally and parietally on the
right side (Fig. 2). Spiral CT of the chest and heart

Fig. 3. Spiral CT of the chest in the axial plane delineates a
contrast medium filling defect due to intracardiac tumour occupying a large part of the right atrium and ventricle.

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INTRACARDIAC TUMOURS AND BRAIN LESIONS IN TUBEROUS SCLEROSIS

Fig. 4. T1-weighted image in the coronal plane (a) shows an approximately 2¿1 cm mass located subependymally and bulging into
the right frontal horn with (b) intense homogeneous contrast enhancement. It extends down to the level of the foramen of Monro.
It has the appearance of a giant cell astrocytoma. c) Multiple cortical and subcortical high signal intensity lesions are detected in
the cerebrum on the T2-weighted image. The subependymal giant cell astrocytoma is bulging into the right lateral ventricle.

delineated the topography of the tumour in axial,
coronal and saggital planes (Fig. 3).
The patient had two cutaneous lesions (ashleave-shaped depigmented macules) at the body
trunk, characteristic of tuberous sclerosis.
At the age of 19 days, the child was transferred
to Great Ormond Street Hospital for Children in
London for further management. Cardiosurgical
intervention was not undertaken. The tumour did
not grow and there was no sign of heart failure.
During observation in London, the intracardiac
tumour had slightly diminished in size. At the age
of 10 months, the patient developed seizures,
which are now controlled by pharmacological
treatment. Otherwise good development and good
weight and length increase were observed. At that
time MR examination was performed without and
with i.v. contrast injection, which showed typical
appearance of tuberous sclerosis with right-sided
subependymal giant cell astrocytoma (Fig. 4).

Discussion

This case presented the typical characteristics described in tuberous sclerosis: lesions in brain and
intracardiac tumour (rhabdomyoma), and cutaneous location as well, with subsequent seizures
fulfilling the diagnostic criteria. An intracardiac
tumour in the antenatal period is mostly due to
rhabdomyoma, which together with brain lesions
strongly suggests tuberous sclerosis (2, 3, 5). The
diagnosis of tuberous sclerosis in our case was confirmed using criteria adapted by multicentre

studies by H et al. (5), which are as follows:
1) Multiple cardiac tumours; or 2) A single tumour
plus 3) Involvement of other organ systems (central nervous system, kidneys or skin) or a positive
family history (5, 7).
The prognosis is rather good, since rhabdomyoma has a tendency to diminish in size during the
course of a few years (2, 8). In our case, after delivery there was no sign of heart failure, but arrhythmias were observed. In cases of heart failure, more
radical measures should be undertaken (2, 5, 8).
Histological lesions in rhabdomyoma are described as myocardial fibers forming the tumourlike nodules distended with glycogen. Rhabdomyomas may originate in the atria or in the free wall
of the ventricular myocardium, but most frequently arise from the ventricular septum. US reveals that most tumours are multiple and solid in
character with homogeneous echogenicity, contrary to fibromas which contain multiple areas of
calcification and cystic degeneration, which, however, in some cases could not be distinguished from
rhabdomyoma (3, 5). Fibromas are usually diagnosed in another, older age group of patients than
in our case. It should also be mentioned that teratomas, which can occur in childhood, are mostly
extracardiac (5). An additional argument in favour
of rhabdomyoma in our case is its increase in size
during the foetal period with a tendency to regression during infancy (2, 3, 8).
Antenatal and perinatal US are valuable in cases
of intracardiac tumours and are useful in diagnosis
of brain abnormalitis as quick, non-invasive, cheap
techniques prior to CT or MR.
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J. CZECHOWSKI ET AL.

In cases suspected for tuberous sclerosis, spiral
CT and/or MR are indicated to confirm lesions
which might be present in other organs like kidneys, liver, and bones (1).
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