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Picture of the Month
N. F. Nik Abdul Rashid, MD;
Jayendra Sharma, MD
From the Department of Pediatrics, Lincoln Medical and Mental Health
Center, Bronx, NY.
Arch Pediatr Adolesc Med. 2001;155:961-962.
AN ECHOCARDIOGRAPHIC examination performed on the fetus of a 23-year-old
primigravida woman at 36 weeks' gestation revealed multiple densities in the
right and left ventricles (Figure 1). An earlier fetal echocardiographic examination, performed at 20 weeks' gestation, had normal findings. The mother had received prenatal
care throughout her pregnancy, which was without complications or known risk
factors. Antenatal screening studies were all normal. The mother's medical
history was unremarkable. She took multivitamins and ferrous sulfate regularly
and denied ingestion or abuse of alcohol or illicit drugs. Family history
was positive for a seizure disorder in a sibling of the mother. There was
no family history of fetal death, cardiac or renal diseases, or mental retardation.
On physical examination, multiple erythematous papules were noted over the
mother's nose and cheeks (Figure 2).
The infant was born at term by spontaneous vaginal delivery. An echocardiographic
examination confirmed a structurally normal heart with multiple cardiac tumors
within both ventricles (Figure 3). Findings from Holter monitoring were unremarkable without the appearance of
arrhythmias. Head and renal ultrasonographic examination results were normal,
without evidence of tumors. A complete eye examination by an ophthalmologist
and an examination of the infant's skin revealed no abnormalities.
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Figure 1.
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Figure 2.
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Figure 3.
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Denouement and Discussion: Cardiac Rhabdomyoma in Tuberous Sclerosis
Figure 1. On echocardiographic
examination, a 4-chamber view of the fetal heart shows multiple tumors attached
to both sides of the ventricular septum.
Figure 2. Angiofibroma (adenoma
sebaceum) are prominent on the mother's face.
Figure 3. The 4-chamber view
of the postnatal transthoracic echocardiographic examination shows multiple
echodense masses attached to the interventricular septum and left ventricular
free wall.
Cardiac rhabdomyoma, while rare at all ages, is the most common primary
cardiac tumor of infancy. Although the true incidence of cardiac tumors in
the pediatric age group is difficult to ascertain, in 2 hospital series, 0.0017%
to 0.003% of pediatric admissions had cardiac tumors.1
Of these tumors, 75% were rhabdomyomas and teratomas in infants younger than
1 year. Cardiac rhabdomyoma is classified as a hamartoma.2
The tumors vary in size from a few millimeters to massive tumors that may
cause obstruction. The tumors, which may be multiple or single, are most commonly
located on the ventricular septum.
CLINICAL MANIFESTATIONS
Cardiac rhabdomyomas may be totally asymptomatic and discovered incidentally
on echocardiographic examination or present with severe congestive heart failure,
including hydrops fetalis. A large tumor at a vulnerable location, such as
the inflow or outflow tract of a ventricle, may cause early symptoms of obstruction
to blood flow. Tumors may also present as abnormalities in the conduction
system such as ventricular tachycardia, supraventricular tachycardia, and
Wolf-Parkinson-White syndrome.3 Symptomatic
rhabdomyomas are associated with fatality rates of 53% in the first week of
life and 78% by 1 year.4
ASSOCIATION WITH TUBEROUS SCLEROSIS
Cardiac rhabdomyomas are strongly associated with tuberous sclerosis,
especially when multiple tumors are present. In one study, 80% of individuals
with cardiac rhabdomyomas had tuberous sclerosis, while 60% of children with
tuberous sclerosis were documented to have these tumors.5
If a cardiac rhabdomyoma is found in a fetus or infant with a family history
of tuberous sclerosis, it can almost certainly be concluded that the infant
may have tuberous sclerosis. If there is no family history of tuberous sclerosis,
the presence of a cardiac rhabdomyoma should raise a high suspicion for this
disorder.
More than 80% of children with tuberous sclerosis who had cardiac rhabdomyomas
documented at birth had no clinical manifestations.6
Tumor regression or disappearance occurred in 70% of children by age 4 years,
whereas only 17% had regression of the tumors after that age.6
Tuberous sclerosis is inherited as an autosomal dominant disorder with a high
rate of sporadic mutation, which accounts for approximately 50% of cases.
Two separate genetic mutations may be responsible for the disorder, one on
chromosome 9 and the other on chromosome 16. The clinical manifestations of
tuberous sclerosis vary widely, and the disorder may not be recognized in
mildly affected individuals. Hamartomas occur in a variety of organs in an
unpredictable fashion, including the brain, eyes, skin, kidneys, heart, lung,
and skeleton, which results in a wide spectrum of signs, symptoms, and complications.
DIAGNOSIS AND TREATMENT
Echocardiography is the most definitive method of diagnosing cardiac
tumors in children. This noninvasive test has greatly advanced our knowledge
of the incidence, morbidity, and course of cardiac rhabdomyomas, particularly
those in association with tuberous sclerosis. Since most cardiac rhabdomyomas
in children with tuberous sclerosis spontaneously regress, treatment for these
tumors is indicated only if they result in critical blood flow obstruction
or arrhythmias. Surgical resection of the tumor may be indicated in symptomatic
infants and children in an attempt to reduce morbidity and mortality.7
AUTHOR INFORMATION
Accepted for publication June 13, 2000.
Reprints: N. F. Nik Abdul Rashid, MD, Department of Pediatrics, Lincoln
Medical and Mental Health Center, 234 E 149th St, Bronx, NY 10451.
REFERENCES
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1. Ludomirsky A. Cardiac tumors. In: Garson A Jr, Bricker JT, Fisher DJ, Neish SR, eds. The Science and Practice of Pediatric Cardiology. 2nd ed. Baltimore,
Md: Williams & Wilkins; 1997:1885-1893.
2. Marx GR. Cardiac tumors. In: Emmanouilides GC, Riemenschneider TA, Allen HD, Gutgesell HP,
eds. Heart Disease in Infants, Children, and Adolescents. 5th ed. Baltimore, Md: Williams & Wilkins; 1995:1773-1785.
3. Jayakar PB, Stanwick RS, Seshia SS. Tuberous sclerosis and Wolf-Parkinson-White syndrome. J Pediatr. 1986;108:259-260.
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4. Fenoglio JJ Jr, McAllister HA Jr, Ferrans V. Cardiac rhabdomyoma: a clinico-pathologic and electron microscopic
study. Am J Cardiol. 1976;38:241-251.
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5. Webb DW, Thomas RD, Osborne JP. Cardiac rhabdomyoma and their association with tuberous sclerosis. Arch Dis Child. 1993;68:367-370.
ABSTRACT
6. Nir A, Tajik AJ, Freeman WK, et al. Tuberous sclerosis and cardiac rhabdomyoma. Am J Cardiol. 1995;76:419-421.
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7. Murphy MC, Sweeney MS, Putnam JB, et al. Surgical treatment of cardiac tumors: a 25 year experience. Ann Thoracic Surg. 1990;49:612-618.
ABSTRACT
SECTION EDITOR: WALTER W. TUNNESSEN, JR, MD
THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES
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ABSTRACT
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