Author's personal copy
Pediatr Cardiol
DOI 10.1007/s00246-012-0161-7
CASE REPORT
Primary Cardiac Leiomyoma of the Ventricular Septum: A Rare
Form of Pediatric Intracardiac Tumor
Isabel S. Melo • Filipa Belo • Rosa Gouveia •
Rui Anjos
Received: 26 July 2011 / Accepted: 6 October 2011
! Springer Science+Business Media, LLC 2012
Abstract A case of ventricular septal tumor diagnosed in
7-month-old boy is reported. An echocardiogram was
performed for investigation of a heart murmur in an
otherwise healthy infant. He remained asymptomatic, and
the tumor had a very slow growth. When the boy was
9 years old, partial surgical excision was performed for
right ventricular outflow tract obstruction. Histology
showed a primary cardiac leiomyoma. To the authors’
knowledge, a primary cardiac leiomyoma of the ventricular
septum has not been reported previously.
Keywords Cardiac tumor ! Child ! Leiomyoma !
Ventricular septum
Primary cardiac tumors are rare in children, and the majority
(90%) are benign [7]. An incidence of 0.0017–0.28% is
reported in autopsy series, and an incidence of 0.14% during
fetal life is reported [7]. Rhabdomyoma is the most common
primary cardiac tumor in pediatric practice, followed by
fibroma, teratoma, and hemangioma [3, 7].
The presenting signs of cardiac tumor depend on the size,
location of the mass, and eventual obstruction to the inflow or
outflow tracts. Most cardiac tumors are asymptomatic, and
diagnosis is made on the basis of heart murmur, arrythmias,
I. S. Melo (&) ! F. Belo ! R. Anjos
Serviço de Cardiologia Pediátrica, Hospital de Santa Cruz,
Centro Hospitalar de Lisboa Ocidental, Av. Prof. Reinaldo dos
Santos, 2799-523 Carnaxide, Portugal
e-mail: isabelff@yahoo.com
R. Gouveia
Serviço de Anatomia Patológica, Hospital de Santa Cruz, Centro
Hospitalar de Lisboa Ocidental, Av. Prof. Reinaldo dos Santos,
2799-523 Carnaxide, Portugal
and antenatal or postnatal echocardiograpy. Nonetheless,
cyanosis, respiratory distress, valvular insufficiency, myo-
cardial dysfunction, or sudden death also can be the initial
form of presentation [1, 3, 4, 7]. Echocardiography, cardiac
magnetic resonance imaging (MRI), and computed tomog-
raphy (CT) usually are useful for establishing the diagnosis,
although histology remains the gold standard for diagnostic
confirmation and characterization [1, 4, 7].
Case Report
A 7-month-old boy presented to our department with a heart
murmur detected at a routine examination. He was born full-
term by forceps delivery after an uneventful gestation and
had no symptoms. Physical examination showed a systolic
ejection murmur grade 3/6 but was otherwise unremarkable.
Electrocardiography (ECG) showed sinus rhythm, nor-
mal QRS axis, deep S waves, and peaked T waves in all
precordial leads. Transthoracic echocardiography exhibited
a 35 9 35 mm mass located in the midventricular septum
and extending into both ventricular chambers without sig-
nificant left or right inlet or outlet obstruction (Fig. 1). The
boy had good global ventricular function and no valvular
regurgitation.
At the age of 9 years, the child remained asymptomatic.
Serial Holter ECG showed no cardiac arrhythmias. Follow-
up echocardiograms had shown a rather slow growth of the
tumor, which measured 48 9 54 mm at this stage. There
was progressive and significant obstruction of the right
ventricular outflow tract, with a peak pressure gradient of
93 mmHg, and no left ventricular outflow tract obstruction.
Cardiac MRI showed a large mass involving most of the
ventricular septum, leaving the apical portion free, occu-
pying most of the right ventricle, and extending into the
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Fig. 1 Transthoracic echocardiography at 7 months showing a large
tumor in the ventricular septum extending into both ventricular
chambers without significant left or right inlet or outlet obstruction
right and left ventricular outflow tracts. It measured 5 cm
in the longest axis and showed well-defined borders.
Delayed signal enhancement after administration of intra-
venous paramagnetic contrast was strongly suggestive of a
fibrous lesion (Fig. 2).
Surgery was performed at this age for relief of the right
ventricular outlet obstruction. Under cardiopulmonary bypass,
partial resection of the tumor was performed because the main
part was continuous with the ventricular septum and therefore
not resectable. In situ, the mass was white with firm consistency
and had an ovoid shape (Fig. 3). It was located in the ventricular
septum and extended to both ventricular cavities. The mass was
solitary and had no attachment to adjacent structures.
The surgery was uneventful, and the boy was extubated a
few hours later. He recovered well and was discharged
10 days after surgery. A postoperative echocardiogram
showed a reduction of the mass dimensions (35 9 44 mm),
accounting primarily for right ventricular outflow tract
obstruction relief. The peak pressure gradient was 26 mmHg
at discharge. No left ventricular outflow obstruction was
observed.
Fig. 2 Cardiac resonance imaging showing a large tumor involving
most of the ventricular septum, sparing the apical segment (a), and
extending into both the right and left ventricular outflow tracts (b).
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Pediatr Cardiol
Microscopically, the tumor had a spindle-shaped archi-
tecture, with elongated cells and spindle-shaped nuclei.
Neither mitotic activity nor atypical cells were noticed. The
tumor appeared to emerge from the media layer of the
intramyocardial vessels (Fig. 4). The residual myocardium
was apparently normal.
Imunohistochemical studies showed positive staining for
vimentin and smooth muscle actin (Fig. 4). Immunostain-
ing was negative for desmin, S100 protein, and CD31.
These findings were compatible with the diagnosis of a
primary cardiac leiomyoma.
At the 1-month follow-up assessment, the child remained
asymptomatic. The peak pressure gradient through the right
ventricular outflow tract on cardiac ultrasound remained
unchanged, at 25 mmHg.
Discussion
In the reported case, the presenting feature was a heart murmur
in a 7-month-old, otherwise asymptomatic infant. Transtho-
racic echocardiogram detected a cardiac tumor. At this point,
both rhabdomyoma and fibroma were the most likely diag-
nosis based on their frequency, age at presentation, echocar-
diographic findings, and intracardiac mass location [7]. Lack
of tumor regression during early childhood made fibroma the
most probable diagnosis. The latter usually is a solitary tumor
located in the ventricular septum that not infrequently causes
ventricular arrhythmias [1, 7]. However, central core calcifi-
cation, a pathognomonic feature of fibroma [6], was not
present, nor did the child present with arrythmia.
The surgical approach for primary benign cardiac
tumors, specifically the nonmixomatous type, should be
considered only in case of symptoms or significant
mechanical obstruction [7]. In the reported case, tumor size
and location made total resection impossible. Given the
patient’s lack of symptoms, tumor irresectability, and
Delayed signal enhancement after administration of intravenous
paramagnetic contrast (c) was strongly suggestive of a fibrous lesion
 Author's personal copy
Pediatr Cardiol
Fig. 3 (a) In situ, the tumor was white with firm consistency and had an ovoid shape. (b) Under cardiopulmonary bypass, partial resection was
performed to achieve right ventricular outflow tract obstruction relief
Fig. 4 Histologic section (hematoxylin and eosin staining, 940)
presenting the well-delimitated, fasciculated tumor (T) compressing
the cardiac muscle of the ventricular septum (VS). The microscopic
window (smooth muscle actin, 9100) characterizes the leiomyoma-
tous nature of the tumor (T) cells and shows the origin from the
intramyocardial vessels (V)
surgical risks, we opted for a clinical and imagiologic
follow-up course. Progressive significant right ventricular
outflow track obstruction prompted surgery given the
associated risk of syncope or sudden death.
Histology and immunostaining confirmed the cardiac
mass to be a primary leiomyoma of the ventricular septum.
It also suggested the tumor origin to be the smooth muscle
cells present at the media layer of the intramyocardial
vessels. Given the paucity of previous reports, the prog-
nosis of the reported case is unknown at this writing.
Echocardiographic follow-up evaluation will be required to
monitor residual tumor evolution.
To our knowledge, this is the first case report describing a
primary cardiac leiomyoma of the ventricular septum. Most
cardiac leiomyomas described in the literature are exten-
sions of an intravenous leiomyomatosis [2], and we have
found only one previous report of a primary cardiac
leiomyoma [5]. The latter was diagnosed in an asymptom-
atic 13-year-old boy and described as an intracardiac mass
located in the lateral free wall of the right ventricle [5].
Conclusion
Although the reported patient was initially thought to have
either a fibroma or a rhabdomyoma, histology showed
a completely different and unexpected diagnosis. The
definitive diagnosis of primary cardiac leiomyoma and
tumor irresectability made it very difficult to establish a
prognosis for this child and presented a management
dilemma. Clinical and echocardiographic follow-up eval-
uation will dictate the approach in the future.
Acknowledgments The authors acknowledge Joaquim Silva, MD,
Susana Cordeiro, and Nuno Carvalho, MD, for their help in preparing
the case report. They also thank Jose Pedro Neves, MD, the attending
surgeon, and Sância Ramos, MD, the chief pathologist.
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