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Clinical presentation of rhabdomyoma of the heart in infancy and childhood
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Clinical Presentation of Rhabdomyoma of the Heart in Infancy and Childhood
REDA M. SHAHER, MD, FACC JOSEPH MINTZER, MD MATTHEW FARINA, MD RALPH ALLEY, MD, FACC MONICA BISHOP, MD Albany, New York
Four infants with cardiac rhabdomyomas were seen during the past 2 years at Albany Medical Center Hospital; 2 were siblings. The piesenting cardiac problems in the 4 infants were congestive heart failure, cyanosis secondary to shunt reversal at atrial level, paroxysmal atrial tachycardia and significant subaortic stenosis, respectively. All 4 patients had tuberous sclerosis. Surgical removal of the tumor was performed in 2. The signs and symptoms produced by myocardial dysfunction secondary to the tumor are reviewed. It is pobtteb out that the cardiac symptoms produced by rhabdomyoma are not specific and can be produced by other types of cardiac tumors. ?he posslbillty of having a second child with rhabdomyoma should not be dismissed. Surgical removal of the tumor should be considered when It is producing significant obstruction of the blood flow on either side of the heart.
Rhabdomyomas are probably the most common cardiac tumors in infancy.l ln the Hospital for Sick Children, Toronto, Canada, 5 patients with this cardiac tumor were seen between 1951 and 1964.2 Nadas and Ellisons pointed out that 7 patients with rhabdomyomas were seen at the Boston Children’s Hospital up to 1966. Van der Hauwaert4 collected 6 rhabdomyomas from 15 European centers within 5 years. Most papers have discussed pathologic aspects, but few have reviewed the clinical presentation of these tumors in infancy.3*4 During the past 2 years 4 infants with cardiac rhabdomyomas were seen at Albany Medical Center. The diagnosis was confirmed by cardiac catheterization, angiography, and microscopic examination of the tumor sections in all. Two patients were siblings. This paper describes these 4 patients and reviews the clinical aspects of rhabdomyoma in infancy and childhood. Case 4 has been reported elsewhere,5 and only the pertinent findings will be presented here.
Case Presentations
From the Departments of Pediatrics, Surgery, and Pathology at the Albany Medical Center Hospital and Albany Medical College, Albany, N.Y. and the Department of Pediatrics, Saratoga Hospital, Saratoga, N.Y. Manuscript received June 3, 1971, accepted July 21.1971. Address for reprints: Reda M. Shaher. MD, Division of Pediatric Cardiology, Albany Medical Center Hospital, Albany, N.Y. 12208.
Case 1: In a 1 day old male Caucasian infant, the fist-born of twins; grunting respirations developed 12 hours after birth. His birth weight was 6 lb, 9 oz, and the prenatal history was unremarkable. After an X-ray film of the chest revealed massive cardiomegaly, the infant was transferred to Albany Medical Center. The mother of the patient, aged 18 years, had skin lesions which were suggestive of tuberous sclerosis. On admission, peripheral cyanosis was present. All pulses were palpable and were normal. The heart rate was 150 beats/min, respiratory rate was 60/ min, and the flush pressures were 50 and 80 mm Hg in the right arm and leg, respectively. The liver was palpated 4 cm below the right costal margin. Clinically the infant had heart failure. Auscultation revealed a moderate pansystolic murmur in the fourth left intercostal space. The chest X-ray film showed massive cardiomegaly (Fig. 1). The electrocardiogram (Fig. 2) dem-
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Figure 1. Chest X-ray films. A, Case 1. Film shows massive cardiomegaly. B, Case 2. Film reveals an egg-shaped heart, a narrow vascular pedicle, a hump at the left cardiac border and diminished pulmonary vascularity. C, Case 3. Film shows slight cardiac enlargement. D, Case 4, Film shows cardiac enlargement.
onstrated an axis of +40” and a short P-R interval. There was a tall R wave in leads Vq to Vs and a deep S wave in lead VI with an inverted T wave in leads I, II, and VZ to v6. A vectorcardiogram was also obtained (Fig. 2). The infant was digitalized and underwent cardiac catheterization (Table I). No shunts were detected, but the right ventricular systolic and diastolic pressure levels were elevated. Despite repeated attempts, the pulmonary artery could not be entered. Through a foramen ovale the left atrium was intubated, and the mean atria1 pressure levels were equal and elevated. Selective right ventricular angiography revealed a large filling defect in this ventricle. (Fig. 3). Left atria1 angiogram demonstrated a small left ventricular cavity. Tachycardia and then ventricular fibrillation occurred. Despite many defibrillations, ventricular
fibrillation returned each time and finally the infant died 45 minutes after the first episode. Autopsy revealed a huge heart with multiple rhabdomyomas. A 25 by 30 mm white fiim tumor mass replaced most of the left ventricular wall (Fig. 4A). Another tumor, 7 by 15 mm, arose from the anterior wall of the right ventricle and protruded into the cavity of this ventricle (Fig. 4B). Other tumors were seen on the epicardial surface of the heart and in the papillary muscles of the left ventricle. The brain showed firm nodules of tuberous sclerosis projecting into the ventricles of both cerebral hemispheres. Microscopically the cardiac tumors showed large clear rhabdomyoma cells. Case 2: A five day old Caucasian male infant was transferred to Albany Medical Center with a diagnosis of
Figure 2. Case 1. Electrocardiogram (A) and vectorcardiogram (8). The frontal loop (F) shows a figure-of-eight configuration at +30”. The horizontal loop (H) shows counterclockwise rotation and loss of the posterior forces. The left sagittal (LS) shows counterclockwise rotation with a terminal delay. Pointed ends of dashes represent direction of loops.
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RHABDOMYOMA
TABLE
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I
Hemodynamic
Data Case no.
Pressures (mm Hg) RA RV PA LA LV Ao GSat.(%) svc IVC RA RV PA PV LA LV Ao Ao = aorta; WC = left ventricle; PA = RA = right atrium; SVC = superiorvena
1
2
3
4
12 60/10
7 1515 15/10 7 80/10 ...
2 3215 2416 6 ... 70/50
0 30/o 18/8 5 180/10 100/70
30 35 25 44 34 69 37 36 48
71 77 80 75 73 91 90 ... 92
... 12 ... .a. ... 72 73 75
.,. 95 92 ... ...
70 79 72 70 70 95 94 95 95
inferior vena cava; LA = left atrium; LV = pulmonary artery; PV = pulmonary vein; RV = right ventricle; Sat. = saturation; cava.
cyanotic heart disease. He was the product of an uneventful, full-term pregnancy of a 22 year old mother. His birth weight was 7 lb. 8 oz. There were no neurologic symptoms, but the mother had adenoma sebaceum on her face. On admission, physical examination revealed deep central cyanosis. The heart rate was 140 beats/min and respiratory rate 6O/min. Peripheral pulses were present and were equal. The flush bbood pressure was 130 mm Hg in the right arm. No abnormalities were detected on auscultation of the lungs. and there was no hepatosplenomegaly. On auscultation of the heart a gallop sound, a soft systolic
Figure 3. Case 1. Selective right ventricular angiogram in the anteroposterior position demonstrating a large filling defect in this ventricle.
ejection murmur and a single second heart sound were present. The chest X-ray film revealed an egg-shaped heart with a hump at the left cardiac border, a narrow vascular pedicle, and decreased pulmonary vascularity (Fig. 1B). The electrocardiogram (Fig. 5) demonstrated right atria1 hypertrophy, indeterminate axis and deep Q waves in leads II, III and aVF. A vectorcardiogram was obtained (Fig. 5). At cardiac catheterization (Table I) normal pressures were demonstrated in the right and left ventricles. Massive shunt reversal at atria1 level was present, along with systemic arterial and pulmonary venous desaturation. Left ventricular angiogram (Fig. 6A) demonstrated a tumor mass beneath the aortic valve and 2 others on the lateral and diaphragmatic walls of the left ventricle. Right ventricular angiogram (Fig. 6B) showed 2 large filling defects in the cavity of this ventricle; ‘a large irregular opacity on the septal wall, and another rounded opacity near the tri-
Figure 4. Case 1. A, left ventricle, with a large rhabdomyoma in its walls. B, right ventricle, with a rhabdomyoma arising from its anterior wall and protruding into the cavity.
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cuspid valve. Right atria1 angiogram in the anteroposterior view showed shunt reversal through an interatrial communication, with 3 filling defects in the cavity of the right atrium. After catheterization multiple rhabdomyomas were believed to be present. Cardiac surgery was performed because of severe cyanosis. Tumors of various sizes were present on the epicardial surface of the ventricles; the largest, 1 cm in diameter, lay behind the left anterior descending coronary artery. A 1.5 cm pedunculated tumor was found in the right
atrium, along with multiple tumors on the tricuspid valve. Similar tumors were present within the right ventricle. Most intracavitary right atria1 and right ventricular tumor masses were excised as much as possible. Ten minutes after termination of cardiac bypass, bradycardia followed by cardiac arrest occurred, and the infant died despite resuscitative efforts. Autopsy revealed multiple, small rhabdomyomas in the left ventricle with a large mass 1 cm in diameter, just beneath the aortic valve, obstructing the outflow tract of
Figure 5. Case 2. Electrocardiogram (A) and vectorcardiogram (B). The frontal loop (F) shows counterclockwise rotation and superior orientation. Horizontal (H) and sagittal (S) loops are normal.
Figure 6. Case 2. Angiocardiograms. A, left ventricular angiogram in the anteroposterior (left) and lateral (right) positions showing a filling defect beneath the aortic valve and 2 others on the lateral and diaphragmatic wails of this ventricle, respectively. B, right ventricular angiogram in the anteroposterior (left) and lateral (right) projections showing 2 large filling defects in the cavity of this ventricle.
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Figure 8. Case 3. Electrocardiogram. 250/min) is present.
ET AL.
Atrial tachycardia
(rate
this ventricle (Fig. 7A). Additionally, the brain showed multiple firm nodules of tuberous sclerosis in the cortex of both cerebral hemispheres. Sections of the cardiac tumor demonstrated the clear rhabdomyoma cells (Fig. 7B). it
Figure 7. Case 2. A, left ventricle, with a large tumor mass beneath the aortic valve and smaller tumors on the septal surface. B, microscopic section of the tumor showing the clear rhabdomyoma cells.
Case 3: A 6 day old girl who had an attack of paroxysmal tachycardia (Fig. 8) was given digitalis and transferred to Albany Medical Center. The family history revealed that she was the only child in the family and that a sibling had died of cardiac rhabdomyoma 1 year before (Case 2 in this series). On clinical evaluation on admission the infant was acyanotic and the heart rate was 100 beats/min and respiratory rate 52/min. The liver was felt 2 cm beneath the right costal margin. There were no abnormalities of the central nervous system, but a skin lesion, 2 by 3 cm, was noted on the right wrist. The brachial and femoral pulses were present and the flush blood pressure was 70 and 80 mm Hg in the right arm and leg, respectively. The first heart sound was normal and the second sound was single. A soft ejection murmur was heard in the pulmonary area. The chest X-ray film revealed slight enlargement of the heart, but the pulmonary vascularity was not increased (Fig. 1C). The electrocardiogram (Fig. 9) showed nodal rhythm, an electrical axis of +180” and right ventricular hypertrophy. A vectorcardiogram was obtained (Fig. 9). Cardiac catheterization was performed (Table I). The systolic pressure in the right ventricle ranged from 32 to 60 mm Hg. The pulmonary arterial pressure was 24/6 mm Hg. Injection of contrast medium into the right ventricle
B
A
--q-.H \ I
Case 3. Eleotrocardiogram (A) and Figure 8. vectorcardiogram (B) showing nodal rhythm and right ventricular hypertrophy. There is superior orientation of the terminal fmorcesin the frontal plane (E).
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Figure 10. Case 3. Right ventricular angiogram in the anteroposterior projection showing a large filling defect in this ventricle.
I
showed a large rounded filling defect that occupied most of the inflow region of this ventricle (Fig. 10). Right atria1 angiogram showed a narrow track in the right ventricle through which the dye reached the pulmonary artery. Left atria1 angiogram demonstrated a normal left atrium and ventricle. The final diagnosis was a tumor of the right ventricle. Since the infant was not suffering from symptoms which could be alleviated by removal of the tumor, she was discharged and given maintenance doses of digitalis. Ten days after discharge, she suddenly became cyanotic and was dead on arrival at the emergency room. At autopsy, the heart was enlarged and a white firm nodule, 5 by 5 mm, was seen on the external surface of the heart near the apex. A huge tumor occupied almost all the cavity of the right ventricle (Fig. 11). It arose from its anterior wall and protruded through the tricuspid valve into the right atrium. Small tumor nodules were found in the wall of the left ventricle. Sections of the tumor showed the typical rhabdomyoma cells. Sections of the brain demonstrated firm nodules of tuberous sclerosis, some of them proiecting into the ventricles and nroducing internal hydrocephalus.Case
murmur
4: This patient was a 9 month was noted at birth.
old boy
Figure 11. Case 3. The right ventricle; a large rhabdomyoma occupies most of this cavity and protrudes through a tricuspid valve into the right atrium.
Physical examination showed a loud and harsh ejection systolic murmur heard all over the precordium but with maximal accentuation in the second right intercostal space. The chest X-ray film showed cardiac enlargement with a cardiothoracic ratio of 65 per cent (Fig. 10). The electrocardiogram (Fig. 12) showed an electrical axis of +330”, late inversion of the P wave and a deep S wave in lead Vi and a depressed S-T segment in lead I. A vectorcardiogram was obtained (Fig. 12). At cardiac catheterization (Table I) a withdrawal tracing from the left ventricle to the ascending aorta showed a gradient of 80 mm Hg across the infundibulum of the left ventricle. The left ventricular angiogram (Fig. 13A) showed large filling defects on the septum and the free wall of the left ventricle. In addition, a large ball-like tumor was seen in the outflow tract of this ventricle immediately beneath the aortic valve. Right ventricular angiogram (Fig. 13B) showed large filling defects on the sep-
A heart
6
----i
6
’
F
I
--
,
I-
Figure 12. Case 4. Electrocardiogram (A) and vectorcardiogram (6) showing left axis deviation.
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Figure 13. Case 3. Angiocardiograms. A, left ventricular angiogram in the anteroposterior (left) and lateral (middle) positions showing multiple filling defects. Note a ball-like tumor in the outflow tract of this ventricle below the aortic valve. B, right ventricular angiogram in the anteroposterior position showing multiple filling defects
tal surface of the right ventricle markedly deforming the outline of this ventricle. The child underwent heart surperv with use of cardiopulmonary bypass, and 2 avascular tumors, 1.5 by 1.5 cm each, were removed from the anterior leaflet of the mitral valve through an arteriotomy in the aorta above the aortic valve. Both tumors were protruding into the outflow tract of the left ventricle and had given rise to subaortic stenosis. Multiple tumors could be palpated over the left ventricle. Microscopically, these tumors were rhabdomyomas. The postoperative course was uneventful, and the child was finally discharged. Discussion According to Heaths the rhabdomyoma is not a true neoplasm. It may form a single mass several centimeters in diameter but more usually takes the form of multiple nodules. These are firm and greyish-white and occur mainly in the walls of the ventricles or the ventricular septum. When large, they may project into the cavity of a ventricle. The histologic sections piesent a spongy vacuolated appearance when the ti:ssue has been fixed in aqueous formalin. However, if the tissue is fixed in alcohol, these vacuoles are found to contain a mucopolysaccharide that stains plositively by the periodic acidSchiff reaction and which is probably glycogen.6 According to Kidder,7 the youngest subject reported on was a 6 month old f’etus and the oldest patient on record was 45 years old. Forty percent of the patients were dead at 6 months of age, 60 percent by the end of 1 year, and 80 percent by age 5 years. Of the 68 cases reviewed by Kidder, the heart showed multiple tumors in 53, single tumors in 12, and diffuse involvement of the cardiac muscle in 3. Information on the clinical presentation of cardiac rhabdomyomas in infants is scanty. Nonetheless, our 4 cases, and those reported cases with sufficient clinical data suggest that a rhabdomyoma of the heart can present itself in various ways. The variations can be explained on the basis of obstruction of blood flow
in the right or left side of the heart, myocardial involvement and disturbance of the cardiac rhythm. Other abnormalities in the electrocardiogram and the chest X-ray film may help in the diagnosis of this condition. Obstruction of the left Valvular obstruction: ventricular outflow tract by a rhabdomyoma may simulate subaortic stenosis. This was confirmed hemodynamically and angiocardiographically in our Case 4, and at postmortem study in our Case 2. Among reported cases, the patient of Kuehl et al.8 had a subvalvular aortic stenosis caused by the tumor that gave rise to a gradient of 54 mm Hg across the obstruction. To our knowledge, mitral valve obstruction produced by a rhabdomyoma has been reported once.9 Obstruction of the outflow tract of the right ventricle can give rise to the features of pulmonary stenosis. Case 3 of Taber.and Lam10 was a 7 year old boy with a systolic murmur in the pulmonary area. At cardiac catheterization a gradient of 50 mm Hg caused by a rhabdomyoma was found across the infundibulum of the right ventricle. In our Case 1 the pulmonary artery could not be entered, but the right ventricular pressure was 60/10 mm Hg. Golding and Reed11 described a 14 month old infant with ventricular septal defect and pulmonary infundibular stenosis, who underwent successful open heart surgery. Microscopic examination of muscle removed from the infundibulum demonstrated rhabdomyoma. Obstruction of the tricuspid valve can give rise to shunt reversal and central cyanosis if the foramen ovale is patent. This mechanism gave rise to cyanosis in our Case 2 and in Case 3 of Van der Hauwaert.4 Although cyanosis was described in 2 reported cases,gJz this phenomenon was probably secondary to bronchopneumonia and mitral valve obstruction, respectively. Congestive heart failure due to Heart failure: myocardial involvement is a common complication of cardiac rhabdomyomas. It was the presenting fea-
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ture in our Case 1 and occurred at the age of 1 day in the patients reported by Kuehl et al8 and Simpoulous and Breslow.13 Similarly, it was one of the clinical features of Cases 4, 5 and 6 of Van der Hauparoxysmal atria1 tachycarwaert,4 and complicated dia in t.he patient reported by Engle et a1.14 Cardiac arrhythmias: Paroxysmal atria1 tachycardia was the presenting symptom in our Case 3, and it occurred and terminated spontaneously before cardiac catheterization in Case 4. Moreover, during this procedure in Case 4 atria1 fibrillation and flutter developed which alternated with sinus rhythm. The heart failure patient of Engle et al. 14 had congestive secondary to atria1 tachycardia. When this arrhythmia was terminated, the electrocardiogram showed atrioventricular block. Nodal ectopic beats were noted in the electrocardiogram of Case 2 of Golding and Reed.11 A short P-R interval and bouts of reciprocating tachycardia were noted in Case 4 bf Van der Hauwaert.4 He suggested that this mechanism was probably produced by impulse reentry by way of accessory atrioventricular pathways in the tumor. One of the patients of Nadas and Ellisons had complete atrioventricular block, a feature also mentioned by Gasul et al.1 Nadas pointed out that the most common cardiac symptoms are paroxysmal supraventricular and even ventricular tachycardia. Sudden death, presumably secondary to ventricular fibrillation, was reported once.15 Electrocardiogram: No constant pattern of ventricular hypertrophy was found among our 4 patients. Thus, 2 showed left ventricular hypertrophy and 2 showed right ventricular hypertrophy. In addition to the features of left ventricular hypertrophy and strain, there was a short P-R interval in the electrocardiogram of Patient 1, a feature also reported by Van der Hauwaert.. Deep Q waves were seen in leads II and III in Case 2 in our series. Intraventricular conduction disturbance was noted in the patient reported by Taber and Lam10 and complete right bundle branch block in Case 5 of Van der Hauwaert.4 Vectorcardiogram: There was no characteristic finding in the vectorcardiograms of our 4 patients. However, there was a tendency toward superior axis deviation in 2 patients. Loss of the posterior forces in the horizontal plane, suggesting a posterolateral lesion, was noted in the vectorcardiogram of Case 1. Most investigators have Chest roentgenogram: noted that rhabdomyomas may give rise to nonspecific cardiac enlargement in the chest X-ray film. A hump at the left border of the heart producing abnormal cardiac configuration was observed in our Case 2. Simpoulous and Breslowls reported on a 1 day old infant whose heart was pushed to the right by a density in the left side of the chest. At thoracotomy a rhabdomyoma was seen to be att,ached to the heart, filling the left side of the chest. Pericardial effusion, described in cases of malignant tumors,ls-1s was observed only once with rhabdomyoma.14 Calcification of the tumor, a sign sometimes observed
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with fibromas,le-21 has not been described with rhabdomyomas. According to Keith et al.2 Neurologic lesions: half of the cases of rhabdomyoma are associated with tuberous sclerosis and a third with kidney lesions. Our own material and the reported cases we reviewed suggest that if the brain is examined at autopsy, tuberous sclerosis will probably be found in almost all cases. The absence of neurologic signs during life does not necessarily rule out this diagnosis. Two of our patients were sibFamily history: lings (Cases 2 and 3). This finding suggests that all members of the family of a child with cardiac rhabdomyoma should have a chest X-ray examination and an electrocardiogram as a screening test for this tumor. It also suggests that those counseling the parents of a child with rhabdomyoma should not dismiss the possibility that a second child may have the same problem. Although tuberous sclerosis has been reported in siblings,22 we believe that this is the first report of the occurrence of rhabdomyoma in siblings. Differentiation from other cardiac tumors: Most of the symptoms and signs described with rhabdomyoma have been reported with other types of cardiac tumors. Thus, tricuspid stenosis has been pulmonary stenosis with fireported with fibroma,2s bromaz4 and myxoma,z5*26 mitral stenosis with myxoma27 and sarcoma,16 and aortic stenosis with fibroma.28 Congestive heart failure has been reported with fibromazc+zs and sarcoma.18 Paroxysmal atria1 tachycardia,za ectopic beats30 and ventricular tachycardials have been reported with fibroma. A precordial electrocardiographic pat.tern of left ventricular hypertrophy and strain was reported with fibrorna.zl,zsJl Deep Q waves in the limb leads have been reported in fibromasOJ0 and an infarction pattern with sarcoma.18 Conduction disturbances in the electrocardiogram were noted with fibroma20J2 and myxoma.26 Clinical diagnosis: Van der Hauwaert4 pointed out that the following clinical findings are suggestive of a cardiac neoplasm: (1) Unexplained congestive heart failure; (2) the association of congestive heart failure with rhythm disturbances; (3) the association of heart disease with peripheral arterial emboli; (4) changing character of the murmur; and (5) a bulging mass on the cardiac border in the chest X-ray film. As pointed out by various workers there may be no cardiac symptoms produced by rhabdomyoma, and the condition could be discovered for the first time at autopsy. However, a history of mental retardation, seizures, neurologic findings, skin lesions in the patient or relatives should raise the possibility of cardiac rhabdomyoma in a patient with a cardiac problem. All patients in whom such a diagnosis is suspected should be investigated by cardiac catheterization and angiography. Surgical indications: The question of surgical removal of rhabdomyomas deserves a special consideration. Two of our 4 patients (Cases 2 and 4) under-
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went surgical excision of some of these tumors. The indication for surgery was tricuspid valve obstruction and severe shunt reversal at atria1 level in the former, and subaortic stenosis caused by the tumor in the latter. Most of these patients have multiple tu-
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mom of the heart, which makes complete excision difficult if not impossible. We therefore believe that surgical removal of the tumor should be considered only if it is producing significant obstruction of the blood flow in the right or left side of the heart.
References Heart Disease in Children, 1. Gasul BM, Arcilla RA, Lev M: Philadelphia, JB Lippincott, 1966, p 1086 2. Keith JD, Rowe RD, Wad P: Heart Disease in Infancy and Childhood, second edition, New York, MacMillan, 1966, p 1171. 3. Nadas AS, Ellison RC: Cardiac tumors in infancy. Amer J Cardiol21:363-366, 1966 Cardiac tumors in infancy and child4. Van der Hauwaert: hood. Brit Heart J 33:125-132, 1971 5. Shaher RM, Farina M, Alley R, et al: Congenital subaortic stenosis in infancy caused by rhabdomyoma of the left ventricle. J Thorac Cardiovasc Surg, in press 6. Heath D: Pathology of cardiac tumors. Amer J Cardiol 21:315-32791968 7. Kidder LA: Congenital glycogenic tumors of the heart. Arch Path 49:55-62, 1950 Left ventricular 6. Kuehl, KS, Perry LW, Chandra R, et al: rhabdomyoma: a rare cause of subaortic stenosis in the newborn infant. Pediatrics 46:464-468, 1970 9. Sussman W, Stasney J: Congenital glycogen tumors of the heart. Amer Heart J 40312-315, 1950 10. Taber RE, Lam CR: Diagnosis and surgical treatment of intracardiac myxoma and rhabdomyoma. J Thorac Cardiovast Surg 40:337-354,196O 11. Golding R, Reed G: Rhabdomyoma of the heart. Two unusual clinical presentations. New Eng J Med 276:957-959, 1967 12. Beaird J, Mowry RW, Cunningham JA: Congenital rhabdomyoma of the heart. Case report with histodhemical study of tumor polysaccharide. Cancer 8:916-920, 1955 13. Simopoulos AP, Breslow A: Tuberous sclerosis in the newborn. Amer J Dis Child 111:313-316, 1966 14. Engle MA, Ito T, Ehlers KH, et al: Rhabdomyomata of the heart: diagnosis during life with clinical and pathologic findings. Circulation 26:712-713, 1962 Sudden death from multiple rhabdomyoDP: 15. Winstanley mata of the heart. J Path Bacterial 81:249-251. 1961 Sarcoma of the heart of a child. 16. Roberts EGG, Seal RME: Arch Dis Child 26:308-3,10, 1951 17. Longino LA, Meeker IA, Jr: Primary cardiac tumors in infancy. Pediatrics 15:562-574, 1955
18. Engle AM, Glenn F: Primary malignant tumor of the heart in infancy. Pediatrics 15:562-574, 1955 19. James M, Stanfield MH: A case of fibroma of the left ventricle in a child of four years. Arch Dis Child 30:187-192, 1955 20. Geha AS, Weidman WH, Boule EH, et al: Intramural ventricular cardiac fibroma. Successful removal in two cases and review of the literature. Circulation 36:427-440. 1967 21. Parks FR Jr, Adams F, Longmire W Jr: Successful excision of a left ventricular hamartoma. Report of a case. Circulation 26:1316-1320. 1962 22. Russell B: Diseases of the Nervous System, fifth edition. Oxford University Press, 1955, p 590 23. Van der Hauwaert LG, Corbel1 L, Maldague P: Fibroma of the right ventricle producing severe tricuspid stenosis. Circulation 32: 451-456. 1965 24. Nicks R: Hamartoma of the right ventricle. J Thorac Cardiovasc Surg 47~762-768, 1964 25. Gottsegen F, Wessely J, Arvay A. et al: Right ventricular myxoma simulating pulmonic stenosis. Circulation 27:9597,1963 26. Doohen DJ, Greer JW, Diorio N, et al: Emergency excision of a myxoma of the right ventricle which was obstructing the right ventricular outflow. J Thorac Cardiovasc Surg 47:342-34891964 27. Goldberg HP, Glenn F, Dotter CT, et al: Myxoma of the left atrium. Diagnosis made during life with operative and postoperative findings. Circulation 6: 762-767, 1952 28. McCue CM, Henninger GR, Davis E, et al: Congenital subaortic stenosis caused by fibroma of left ventricle. Pediatrics 16~372-377, 1955 29. Boyette DP, Foushee JHS: Cardiac fibroma of the interventricular septum in a newborn infant. N Carolina J Med 21:544-546,196O 30. Osano M, Tashiro K, Oikawa T, et al: Intramural fibroma of the heart. A case report. Pediatrics 43:605-608, 1969 31. Folger GM, Jr, Peters HJ: Nodular fibroelastosis (fibroelastic hamartoma). A tumorous malformation of the heart. Amer J Cardiol 21:420-427. 1968 32. Jernstrom P, Cremin JH: Intramural fibroma of the heart. Amer J Clin Path 32:250-256, 1959
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Clinical Presentation of Rhabdomyoma of the Heart in Infancy and Childhood
REDA M. SHAHER, MD, FACC JOSEPH MINTZER, MD MATTHEW FARINA, MD RALPH ALLEY, MD, FACC MONICA BISHOP, MD Albany, New York
Four infants with cardiac rhabdomyomas were seen during the past 2 years at Albany Medical Center Hospital; 2 were siblings. The piesenting cardiac problems in the 4 infants were congestive heart failure, cyanosis secondary to shunt reversal at atrial level, paroxysmal atrial tachycardia and significant subaortic stenosis, respectively. All 4 patients had tuberous sclerosis. Surgical removal of the tumor was performed in 2. The signs and symptoms produced by myocardial dysfunction secondary to the tumor are reviewed. It is pobtteb out that the cardiac symptoms produced by rhabdomyoma are not specific and can be produced by other types of cardiac tumors. ?he posslbillty of having a second child with rhabdomyoma should not be dismissed. Surgical removal of the tumor should be considered when It is producing significant obstruction of the blood flow on either side of the heart.
Rhabdomyomas are probably the most common cardiac tumors in infancy.l ln the Hospital for Sick Children, Toronto, Canada, 5 patients with this cardiac tumor were seen between 1951 and 1964.2 Nadas and Ellisons pointed out that 7 patients with rhabdomyomas were seen at the Boston Children’s Hospital up to 1966. Van der Hauwaert4 collected 6 rhabdomyomas from 15 European centers within 5 years. Most papers have discussed pathologic aspects, but few have reviewed the clinical presentation of these tumors in infancy.3*4 During the past 2 years 4 infants with cardiac rhabdomyomas were seen at Albany Medical Center. The diagnosis was confirmed by cardiac catheterization, angiography, and microscopic examination of the tumor sections in all. Two patients were siblings. This paper describes these 4 patients and reviews the clinical aspects of rhabdomyoma in infancy and childhood. Case 4 has been reported elsewhere,5 and only the pertinent findings will be presented here.
Case Presentations
From the Departments of Pediatrics, Surgery, and Pathology at the Albany Medical Center Hospital and Albany Medical College, Albany, N.Y. and the Department of Pediatrics, Saratoga Hospital, Saratoga, N.Y. Manuscript received June 3, 1971, accepted July 21.1971. Address for reprints: Reda M. Shaher. MD, Division of Pediatric Cardiology, Albany Medical Center Hospital, Albany, N.Y. 12208.
Case 1: In a 1 day old male Caucasian infant, the fist-born of twins; grunting respirations developed 12 hours after birth. His birth weight was 6 lb, 9 oz, and the prenatal history was unremarkable. After an X-ray film of the chest revealed massive cardiomegaly, the infant was transferred to Albany Medical Center. The mother of the patient, aged 18 years, had skin lesions which were suggestive of tuberous sclerosis. On admission, peripheral cyanosis was present. All pulses were palpable and were normal. The heart rate was 150 beats/min, respiratory rate was 60/ min, and the flush pressures were 50 and 80 mm Hg in the right arm and leg, respectively. The liver was palpated 4 cm below the right costal margin. Clinically the infant had heart failure. Auscultation revealed a moderate pansystolic murmur in the fourth left intercostal space. The chest X-ray film showed massive cardiomegaly (Fig. 1). The electrocardiogram (Fig. 2) dem-
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Figure 1. Chest X-ray films. A, Case 1. Film shows massive cardiomegaly. B, Case 2. Film reveals an egg-shaped heart, a narrow vascular pedicle, a hump at the left cardiac border and diminished pulmonary vascularity. C, Case 3. Film shows slight cardiac enlargement. D, Case 4, Film shows cardiac enlargement.
onstrated an axis of +40” and a short P-R interval. There was a tall R wave in leads Vq to Vs and a deep S wave in lead VI with an inverted T wave in leads I, II, and VZ to v6. A vectorcardiogram was also obtained (Fig. 2). The infant was digitalized and underwent cardiac catheterization (Table I). No shunts were detected, but the right ventricular systolic and diastolic pressure levels were elevated. Despite repeated attempts, the pulmonary artery could not be entered. Through a foramen ovale the left atrium was intubated, and the mean atria1 pressure levels were equal and elevated. Selective right ventricular angiography revealed a large filling defect in this ventricle. (Fig. 3). Left atria1 angiogram demonstrated a small left ventricular cavity. Tachycardia and then ventricular fibrillation occurred. Despite many defibrillations, ventricular
fibrillation returned each time and finally the infant died 45 minutes after the first episode. Autopsy revealed a huge heart with multiple rhabdomyomas. A 25 by 30 mm white fiim tumor mass replaced most of the left ventricular wall (Fig. 4A). Another tumor, 7 by 15 mm, arose from the anterior wall of the right ventricle and protruded into the cavity of this ventricle (Fig. 4B). Other tumors were seen on the epicardial surface of the heart and in the papillary muscles of the left ventricle. The brain showed firm nodules of tuberous sclerosis projecting into the ventricles of both cerebral hemispheres. Microscopically the cardiac tumors showed large clear rhabdomyoma cells. Case 2: A five day old Caucasian male infant was transferred to Albany Medical Center with a diagnosis of
Figure 2. Case 1. Electrocardiogram (A) and vectorcardiogram (8). The frontal loop (F) shows a figure-of-eight configuration at +30”. The horizontal loop (H) shows counterclockwise rotation and loss of the posterior forces. The left sagittal (LS) shows counterclockwise rotation with a terminal delay. Pointed ends of dashes represent direction of loops.
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TABLE
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I
Hemodynamic
Data Case no.
Pressures (mm Hg) RA RV PA LA LV Ao GSat.(%) svc IVC RA RV PA PV LA LV Ao Ao = aorta; WC = left ventricle; PA = RA = right atrium; SVC = superiorvena
1
2
3
4
12 60/10
7 1515 15/10 7 80/10 ...
2 3215 2416 6 ... 70/50
0 30/o 18/8 5 180/10 100/70
30 35 25 44 34 69 37 36 48
71 77 80 75 73 91 90 ... 92
... 12 ... .a. ... 72 73 75
.,. 95 92 ... ...
70 79 72 70 70 95 94 95 95
inferior vena cava; LA = left atrium; LV = pulmonary artery; PV = pulmonary vein; RV = right ventricle; Sat. = saturation; cava.
cyanotic heart disease. He was the product of an uneventful, full-term pregnancy of a 22 year old mother. His birth weight was 7 lb. 8 oz. There were no neurologic symptoms, but the mother had adenoma sebaceum on her face. On admission, physical examination revealed deep central cyanosis. The heart rate was 140 beats/min and respiratory rate 6O/min. Peripheral pulses were present and were equal. The flush bbood pressure was 130 mm Hg in the right arm. No abnormalities were detected on auscultation of the lungs. and there was no hepatosplenomegaly. On auscultation of the heart a gallop sound, a soft systolic
Figure 3. Case 1. Selective right ventricular angiogram in the anteroposterior position demonstrating a large filling defect in this ventricle.
ejection murmur and a single second heart sound were present. The chest X-ray film revealed an egg-shaped heart with a hump at the left cardiac border, a narrow vascular pedicle, and decreased pulmonary vascularity (Fig. 1B). The electrocardiogram (Fig. 5) demonstrated right atria1 hypertrophy, indeterminate axis and deep Q waves in leads II, III and aVF. A vectorcardiogram was obtained (Fig. 5). At cardiac catheterization (Table I) normal pressures were demonstrated in the right and left ventricles. Massive shunt reversal at atria1 level was present, along with systemic arterial and pulmonary venous desaturation. Left ventricular angiogram (Fig. 6A) demonstrated a tumor mass beneath the aortic valve and 2 others on the lateral and diaphragmatic walls of the left ventricle. Right ventricular angiogram (Fig. 6B) showed 2 large filling defects in the cavity of this ventricle; ‘a large irregular opacity on the septal wall, and another rounded opacity near the tri-
Figure 4. Case 1. A, left ventricle, with a large rhabdomyoma in its walls. B, right ventricle, with a rhabdomyoma arising from its anterior wall and protruding into the cavity.
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cuspid valve. Right atria1 angiogram in the anteroposterior view showed shunt reversal through an interatrial communication, with 3 filling defects in the cavity of the right atrium. After catheterization multiple rhabdomyomas were believed to be present. Cardiac surgery was performed because of severe cyanosis. Tumors of various sizes were present on the epicardial surface of the ventricles; the largest, 1 cm in diameter, lay behind the left anterior descending coronary artery. A 1.5 cm pedunculated tumor was found in the right
atrium, along with multiple tumors on the tricuspid valve. Similar tumors were present within the right ventricle. Most intracavitary right atria1 and right ventricular tumor masses were excised as much as possible. Ten minutes after termination of cardiac bypass, bradycardia followed by cardiac arrest occurred, and the infant died despite resuscitative efforts. Autopsy revealed multiple, small rhabdomyomas in the left ventricle with a large mass 1 cm in diameter, just beneath the aortic valve, obstructing the outflow tract of
Figure 5. Case 2. Electrocardiogram (A) and vectorcardiogram (B). The frontal loop (F) shows counterclockwise rotation and superior orientation. Horizontal (H) and sagittal (S) loops are normal.
Figure 6. Case 2. Angiocardiograms. A, left ventricular angiogram in the anteroposterior (left) and lateral (right) positions showing a filling defect beneath the aortic valve and 2 others on the lateral and diaphragmatic wails of this ventricle, respectively. B, right ventricular angiogram in the anteroposterior (left) and lateral (right) projections showing 2 large filling defects in the cavity of this ventricle.
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Figure 8. Case 3. Electrocardiogram. 250/min) is present.
ET AL.
Atrial tachycardia
(rate
this ventricle (Fig. 7A). Additionally, the brain showed multiple firm nodules of tuberous sclerosis in the cortex of both cerebral hemispheres. Sections of the cardiac tumor demonstrated the clear rhabdomyoma cells (Fig. 7B). it
Figure 7. Case 2. A, left ventricle, with a large tumor mass beneath the aortic valve and smaller tumors on the septal surface. B, microscopic section of the tumor showing the clear rhabdomyoma cells.
Case 3: A 6 day old girl who had an attack of paroxysmal tachycardia (Fig. 8) was given digitalis and transferred to Albany Medical Center. The family history revealed that she was the only child in the family and that a sibling had died of cardiac rhabdomyoma 1 year before (Case 2 in this series). On clinical evaluation on admission the infant was acyanotic and the heart rate was 100 beats/min and respiratory rate 52/min. The liver was felt 2 cm beneath the right costal margin. There were no abnormalities of the central nervous system, but a skin lesion, 2 by 3 cm, was noted on the right wrist. The brachial and femoral pulses were present and the flush blood pressure was 70 and 80 mm Hg in the right arm and leg, respectively. The first heart sound was normal and the second sound was single. A soft ejection murmur was heard in the pulmonary area. The chest X-ray film revealed slight enlargement of the heart, but the pulmonary vascularity was not increased (Fig. 1C). The electrocardiogram (Fig. 9) showed nodal rhythm, an electrical axis of +180” and right ventricular hypertrophy. A vectorcardiogram was obtained (Fig. 9). Cardiac catheterization was performed (Table I). The systolic pressure in the right ventricle ranged from 32 to 60 mm Hg. The pulmonary arterial pressure was 24/6 mm Hg. Injection of contrast medium into the right ventricle
B
A
--q-.H \ I
Case 3. Eleotrocardiogram (A) and Figure 8. vectorcardiogram (B) showing nodal rhythm and right ventricular hypertrophy. There is superior orientation of the terminal fmorcesin the frontal plane (E).
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Figure 10. Case 3. Right ventricular angiogram in the anteroposterior projection showing a large filling defect in this ventricle.
I
showed a large rounded filling defect that occupied most of the inflow region of this ventricle (Fig. 10). Right atria1 angiogram showed a narrow track in the right ventricle through which the dye reached the pulmonary artery. Left atria1 angiogram demonstrated a normal left atrium and ventricle. The final diagnosis was a tumor of the right ventricle. Since the infant was not suffering from symptoms which could be alleviated by removal of the tumor, she was discharged and given maintenance doses of digitalis. Ten days after discharge, she suddenly became cyanotic and was dead on arrival at the emergency room. At autopsy, the heart was enlarged and a white firm nodule, 5 by 5 mm, was seen on the external surface of the heart near the apex. A huge tumor occupied almost all the cavity of the right ventricle (Fig. 11). It arose from its anterior wall and protruded through the tricuspid valve into the right atrium. Small tumor nodules were found in the wall of the left ventricle. Sections of the tumor showed the typical rhabdomyoma cells. Sections of the brain demonstrated firm nodules of tuberous sclerosis, some of them proiecting into the ventricles and nroducing internal hydrocephalus.Case
murmur
4: This patient was a 9 month was noted at birth.
old boy
Figure 11. Case 3. The right ventricle; a large rhabdomyoma occupies most of this cavity and protrudes through a tricuspid valve into the right atrium.
Physical examination showed a loud and harsh ejection systolic murmur heard all over the precordium but with maximal accentuation in the second right intercostal space. The chest X-ray film showed cardiac enlargement with a cardiothoracic ratio of 65 per cent (Fig. 10). The electrocardiogram (Fig. 12) showed an electrical axis of +330”, late inversion of the P wave and a deep S wave in lead Vi and a depressed S-T segment in lead I. A vectorcardiogram was obtained (Fig. 12). At cardiac catheterization (Table I) a withdrawal tracing from the left ventricle to the ascending aorta showed a gradient of 80 mm Hg across the infundibulum of the left ventricle. The left ventricular angiogram (Fig. 13A) showed large filling defects on the septum and the free wall of the left ventricle. In addition, a large ball-like tumor was seen in the outflow tract of this ventricle immediately beneath the aortic valve. Right ventricular angiogram (Fig. 13B) showed large filling defects on the sep-
A heart
6
----i
6
’
F
I
--
,
I-
Figure 12. Case 4. Electrocardiogram (A) and vectorcardiogram (6) showing left axis deviation.
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Figure 13. Case 3. Angiocardiograms. A, left ventricular angiogram in the anteroposterior (left) and lateral (middle) positions showing multiple filling defects. Note a ball-like tumor in the outflow tract of this ventricle below the aortic valve. B, right ventricular angiogram in the anteroposterior position showing multiple filling defects
tal surface of the right ventricle markedly deforming the outline of this ventricle. The child underwent heart surperv with use of cardiopulmonary bypass, and 2 avascular tumors, 1.5 by 1.5 cm each, were removed from the anterior leaflet of the mitral valve through an arteriotomy in the aorta above the aortic valve. Both tumors were protruding into the outflow tract of the left ventricle and had given rise to subaortic stenosis. Multiple tumors could be palpated over the left ventricle. Microscopically, these tumors were rhabdomyomas. The postoperative course was uneventful, and the child was finally discharged. Discussion According to Heaths the rhabdomyoma is not a true neoplasm. It may form a single mass several centimeters in diameter but more usually takes the form of multiple nodules. These are firm and greyish-white and occur mainly in the walls of the ventricles or the ventricular septum. When large, they may project into the cavity of a ventricle. The histologic sections piesent a spongy vacuolated appearance when the ti:ssue has been fixed in aqueous formalin. However, if the tissue is fixed in alcohol, these vacuoles are found to contain a mucopolysaccharide that stains plositively by the periodic acidSchiff reaction and which is probably glycogen.6 According to Kidder,7 the youngest subject reported on was a 6 month old f’etus and the oldest patient on record was 45 years old. Forty percent of the patients were dead at 6 months of age, 60 percent by the end of 1 year, and 80 percent by age 5 years. Of the 68 cases reviewed by Kidder, the heart showed multiple tumors in 53, single tumors in 12, and diffuse involvement of the cardiac muscle in 3. Information on the clinical presentation of cardiac rhabdomyomas in infants is scanty. Nonetheless, our 4 cases, and those reported cases with sufficient clinical data suggest that a rhabdomyoma of the heart can present itself in various ways. The variations can be explained on the basis of obstruction of blood flow
in the right or left side of the heart, myocardial involvement and disturbance of the cardiac rhythm. Other abnormalities in the electrocardiogram and the chest X-ray film may help in the diagnosis of this condition. Obstruction of the left Valvular obstruction: ventricular outflow tract by a rhabdomyoma may simulate subaortic stenosis. This was confirmed hemodynamically and angiocardiographically in our Case 4, and at postmortem study in our Case 2. Among reported cases, the patient of Kuehl et al.8 had a subvalvular aortic stenosis caused by the tumor that gave rise to a gradient of 54 mm Hg across the obstruction. To our knowledge, mitral valve obstruction produced by a rhabdomyoma has been reported once.9 Obstruction of the outflow tract of the right ventricle can give rise to the features of pulmonary stenosis. Case 3 of Taber.and Lam10 was a 7 year old boy with a systolic murmur in the pulmonary area. At cardiac catheterization a gradient of 50 mm Hg caused by a rhabdomyoma was found across the infundibulum of the right ventricle. In our Case 1 the pulmonary artery could not be entered, but the right ventricular pressure was 60/10 mm Hg. Golding and Reed11 described a 14 month old infant with ventricular septal defect and pulmonary infundibular stenosis, who underwent successful open heart surgery. Microscopic examination of muscle removed from the infundibulum demonstrated rhabdomyoma. Obstruction of the tricuspid valve can give rise to shunt reversal and central cyanosis if the foramen ovale is patent. This mechanism gave rise to cyanosis in our Case 2 and in Case 3 of Van der Hauwaert.4 Although cyanosis was described in 2 reported cases,gJz this phenomenon was probably secondary to bronchopneumonia and mitral valve obstruction, respectively. Congestive heart failure due to Heart failure: myocardial involvement is a common complication of cardiac rhabdomyomas. It was the presenting fea-
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ture in our Case 1 and occurred at the age of 1 day in the patients reported by Kuehl et al8 and Simpoulous and Breslow.13 Similarly, it was one of the clinical features of Cases 4, 5 and 6 of Van der Hauparoxysmal atria1 tachycarwaert,4 and complicated dia in t.he patient reported by Engle et a1.14 Cardiac arrhythmias: Paroxysmal atria1 tachycardia was the presenting symptom in our Case 3, and it occurred and terminated spontaneously before cardiac catheterization in Case 4. Moreover, during this procedure in Case 4 atria1 fibrillation and flutter developed which alternated with sinus rhythm. The heart failure patient of Engle et al. 14 had congestive secondary to atria1 tachycardia. When this arrhythmia was terminated, the electrocardiogram showed atrioventricular block. Nodal ectopic beats were noted in the electrocardiogram of Case 2 of Golding and Reed.11 A short P-R interval and bouts of reciprocating tachycardia were noted in Case 4 bf Van der Hauwaert.4 He suggested that this mechanism was probably produced by impulse reentry by way of accessory atrioventricular pathways in the tumor. One of the patients of Nadas and Ellisons had complete atrioventricular block, a feature also mentioned by Gasul et al.1 Nadas pointed out that the most common cardiac symptoms are paroxysmal supraventricular and even ventricular tachycardia. Sudden death, presumably secondary to ventricular fibrillation, was reported once.15 Electrocardiogram: No constant pattern of ventricular hypertrophy was found among our 4 patients. Thus, 2 showed left ventricular hypertrophy and 2 showed right ventricular hypertrophy. In addition to the features of left ventricular hypertrophy and strain, there was a short P-R interval in the electrocardiogram of Patient 1, a feature also reported by Van der Hauwaert.. Deep Q waves were seen in leads II and III in Case 2 in our series. Intraventricular conduction disturbance was noted in the patient reported by Taber and Lam10 and complete right bundle branch block in Case 5 of Van der Hauwaert.4 Vectorcardiogram: There was no characteristic finding in the vectorcardiograms of our 4 patients. However, there was a tendency toward superior axis deviation in 2 patients. Loss of the posterior forces in the horizontal plane, suggesting a posterolateral lesion, was noted in the vectorcardiogram of Case 1. Most investigators have Chest roentgenogram: noted that rhabdomyomas may give rise to nonspecific cardiac enlargement in the chest X-ray film. A hump at the left border of the heart producing abnormal cardiac configuration was observed in our Case 2. Simpoulous and Breslowls reported on a 1 day old infant whose heart was pushed to the right by a density in the left side of the chest. At thoracotomy a rhabdomyoma was seen to be att,ached to the heart, filling the left side of the chest. Pericardial effusion, described in cases of malignant tumors,ls-1s was observed only once with rhabdomyoma.14 Calcification of the tumor, a sign sometimes observed
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with fibromas,le-21 has not been described with rhabdomyomas. According to Keith et al.2 Neurologic lesions: half of the cases of rhabdomyoma are associated with tuberous sclerosis and a third with kidney lesions. Our own material and the reported cases we reviewed suggest that if the brain is examined at autopsy, tuberous sclerosis will probably be found in almost all cases. The absence of neurologic signs during life does not necessarily rule out this diagnosis. Two of our patients were sibFamily history: lings (Cases 2 and 3). This finding suggests that all members of the family of a child with cardiac rhabdomyoma should have a chest X-ray examination and an electrocardiogram as a screening test for this tumor. It also suggests that those counseling the parents of a child with rhabdomyoma should not dismiss the possibility that a second child may have the same problem. Although tuberous sclerosis has been reported in siblings,22 we believe that this is the first report of the occurrence of rhabdomyoma in siblings. Differentiation from other cardiac tumors: Most of the symptoms and signs described with rhabdomyoma have been reported with other types of cardiac tumors. Thus, tricuspid stenosis has been pulmonary stenosis with fireported with fibroma,2s bromaz4 and myxoma,z5*26 mitral stenosis with myxoma27 and sarcoma,16 and aortic stenosis with fibroma.28 Congestive heart failure has been reported with fibromazc+zs and sarcoma.18 Paroxysmal atria1 tachycardia,za ectopic beats30 and ventricular tachycardials have been reported with fibroma. A precordial electrocardiographic pat.tern of left ventricular hypertrophy and strain was reported with fibrorna.zl,zsJl Deep Q waves in the limb leads have been reported in fibromasOJ0 and an infarction pattern with sarcoma.18 Conduction disturbances in the electrocardiogram were noted with fibroma20J2 and myxoma.26 Clinical diagnosis: Van der Hauwaert4 pointed out that the following clinical findings are suggestive of a cardiac neoplasm: (1) Unexplained congestive heart failure; (2) the association of congestive heart failure with rhythm disturbances; (3) the association of heart disease with peripheral arterial emboli; (4) changing character of the murmur; and (5) a bulging mass on the cardiac border in the chest X-ray film. As pointed out by various workers there may be no cardiac symptoms produced by rhabdomyoma, and the condition could be discovered for the first time at autopsy. However, a history of mental retardation, seizures, neurologic findings, skin lesions in the patient or relatives should raise the possibility of cardiac rhabdomyoma in a patient with a cardiac problem. All patients in whom such a diagnosis is suspected should be investigated by cardiac catheterization and angiography. Surgical indications: The question of surgical removal of rhabdomyomas deserves a special consideration. Two of our 4 patients (Cases 2 and 4) under-
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went surgical excision of some of these tumors. The indication for surgery was tricuspid valve obstruction and severe shunt reversal at atria1 level in the former, and subaortic stenosis caused by the tumor in the latter. Most of these patients have multiple tu-
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mom of the heart, which makes complete excision difficult if not impossible. We therefore believe that surgical removal of the tumor should be considered only if it is producing significant obstruction of the blood flow in the right or left side of the heart.
References Heart Disease in Children, 1. Gasul BM, Arcilla RA, Lev M: Philadelphia, JB Lippincott, 1966, p 1086 2. Keith JD, Rowe RD, Wad P: Heart Disease in Infancy and Childhood, second edition, New York, MacMillan, 1966, p 1171. 3. Nadas AS, Ellison RC: Cardiac tumors in infancy. Amer J Cardiol21:363-366, 1966 Cardiac tumors in infancy and child4. Van der Hauwaert: hood. Brit Heart J 33:125-132, 1971 5. Shaher RM, Farina M, Alley R, et al: Congenital subaortic stenosis in infancy caused by rhabdomyoma of the left ventricle. J Thorac Cardiovasc Surg, in press 6. Heath D: Pathology of cardiac tumors. Amer J Cardiol 21:315-32791968 7. Kidder LA: Congenital glycogenic tumors of the heart. Arch Path 49:55-62, 1950 Left ventricular 6. Kuehl, KS, Perry LW, Chandra R, et al: rhabdomyoma: a rare cause of subaortic stenosis in the newborn infant. Pediatrics 46:464-468, 1970 9. Sussman W, Stasney J: Congenital glycogen tumors of the heart. Amer Heart J 40312-315, 1950 10. Taber RE, Lam CR: Diagnosis and surgical treatment of intracardiac myxoma and rhabdomyoma. J Thorac Cardiovast Surg 40:337-354,196O 11. Golding R, Reed G: Rhabdomyoma of the heart. Two unusual clinical presentations. New Eng J Med 276:957-959, 1967 12. Beaird J, Mowry RW, Cunningham JA: Congenital rhabdomyoma of the heart. Case report with histodhemical study of tumor polysaccharide. Cancer 8:916-920, 1955 13. Simopoulos AP, Breslow A: Tuberous sclerosis in the newborn. Amer J Dis Child 111:313-316, 1966 14. Engle MA, Ito T, Ehlers KH, et al: Rhabdomyomata of the heart: diagnosis during life with clinical and pathologic findings. Circulation 26:712-713, 1962 Sudden death from multiple rhabdomyoDP: 15. Winstanley mata of the heart. J Path Bacterial 81:249-251. 1961 Sarcoma of the heart of a child. 16. Roberts EGG, Seal RME: Arch Dis Child 26:308-3,10, 1951 17. Longino LA, Meeker IA, Jr: Primary cardiac tumors in infancy. Pediatrics 15:562-574, 1955
18. Engle AM, Glenn F: Primary malignant tumor of the heart in infancy. Pediatrics 15:562-574, 1955 19. James M, Stanfield MH: A case of fibroma of the left ventricle in a child of four years. Arch Dis Child 30:187-192, 1955 20. Geha AS, Weidman WH, Boule EH, et al: Intramural ventricular cardiac fibroma. Successful removal in two cases and review of the literature. Circulation 36:427-440. 1967 21. Parks FR Jr, Adams F, Longmire W Jr: Successful excision of a left ventricular hamartoma. Report of a case. Circulation 26:1316-1320. 1962 22. Russell B: Diseases of the Nervous System, fifth edition. Oxford University Press, 1955, p 590 23. Van der Hauwaert LG, Corbel1 L, Maldague P: Fibroma of the right ventricle producing severe tricuspid stenosis. Circulation 32: 451-456. 1965 24. Nicks R: Hamartoma of the right ventricle. J Thorac Cardiovasc Surg 47~762-768, 1964 25. Gottsegen F, Wessely J, Arvay A. et al: Right ventricular myxoma simulating pulmonic stenosis. Circulation 27:9597,1963 26. Doohen DJ, Greer JW, Diorio N, et al: Emergency excision of a myxoma of the right ventricle which was obstructing the right ventricular outflow. J Thorac Cardiovasc Surg 47:342-34891964 27. Goldberg HP, Glenn F, Dotter CT, et al: Myxoma of the left atrium. Diagnosis made during life with operative and postoperative findings. Circulation 6: 762-767, 1952 28. McCue CM, Henninger GR, Davis E, et al: Congenital subaortic stenosis caused by fibroma of left ventricle. Pediatrics 16~372-377, 1955 29. Boyette DP, Foushee JHS: Cardiac fibroma of the interventricular septum in a newborn infant. N Carolina J Med 21:544-546,196O 30. Osano M, Tashiro K, Oikawa T, et al: Intramural fibroma of the heart. A case report. Pediatrics 43:605-608, 1969 31. Folger GM, Jr, Peters HJ: Nodular fibroelastosis (fibroelastic hamartoma). A tumorous malformation of the heart. Amer J Cardiol 21:420-427. 1968 32. Jernstrom P, Cremin JH: Intramural fibroma of the heart. Amer J Clin Path 32:250-256, 1959
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