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Two-dimensional echocardiographic diagnosis of intracardiac masses in infancy
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JACC Vol. 3, No.3 March 1984:827-32
PEDIATRIC CARDIOLOGY
Two-Dimensional Echocardiographic Diagnosis of Intracardiac Masses in Infancy GERALD R. MARX, MD,* FREDERICK Z. BIERMAN, MD, FACC, EDWARD MATTHEWS, MD, ROBERTA WILLIAMS, MD, FACC Boston, Massachusetts
Intracardiac masses in infancy are uncommon. Tumors, thrombi and vegetations of bacterial endocarditis are exceedingly rare in this age group. These masses are seldom diagnosed before the infant's death. In a review of two-dimensional echocardiograms performed from May 1979 to January 1981 on 741 infants less than 2 years of age, intracardiac masses were prospectively identified in 6 patients. All six patients presented with unexplained murmurs associated with either
lntracardiac masses in infancy are uncommon. Tumors, thrombi and vegetations of bacterial endocarditis are exceedingly rare in this age group. These masses are seldom diagnosed before the infant's death (I-II). The detection of intracardiac masses by M-mode and two-dimensional echocardiography has been described in adolescent and adult patients (12-23), This report summarizes the use of twodimensional echocardiography in the diagnosis and treatment of six infants, all less than 2 years of age, with intracardiac masses,
Methods Subxiphoid two-dimensional echocardiograms were performed between May 1979, and January 1981 on 741 infants less than 2 years of age. All studies were performed using a Picker 80 cardiac imager with mechanical sector scanner and 5 MHz short focus transducer. lntracardiac anatomy was examined using four chamber, long-axis and short-axis subxiphoid projections (24,25), Other projections, such as From the Department of Cardiology, The Children's Hospital Medical Center and Department of Pediatrics, Harvard Medical School. Boston, Massachusetts. This study was supported in part by Grant 5 T 32 HL 0719304 from the National Institutes of Health, Bethesda, Maryland. Manuscript received March 16, 1983; revised manuscript received September 26, 1983, accepted September 30, 1983. *Present address and address for reprints: Gerald R. Marx. MD, Department of Pediatrics (Cardiology), University of Arizona, Health Sciences Center, Tucson, Arizona 85724. © 1984 by the American College of Cardiology
hemodynamic instability, arrhythmias or systemic emboli. One patient had a vegetation from bacterial en· docarditis, one had an intracardiac thrombus associated with myocarditis, three had rhabdomyomas (two pa· tients with tuberous sclerosis) and one had a fibro-fatty nodule attached to the eustachian valve. Two-dimensional echocardiography not only was important in the diagnosis, but also provided guidance in the medical and surgical treatment of these patients.
parasternal long- and short-axis and apical four chamber views, could have been used to visualize these masses. The use of the subxiphoid technique in these patients was a matter of the echocardiographer's preference at the time of these studies.
Results In a review of all two-dimensional echocardiograms performed on infants less than 2 years of age, intracardiac masses were prospectively identified in 6 of 741 patients. One infant (Case I) had a vegetation from bacterial endocarditis; one (Case 2) had an intracardiac thrombus associated with myocarditis; three (Cases 3, 4, 5) had rhabdomyomas (two of these three had tuberous sclerosis) and one patient (Case 6) had a fibro-fatty nodule attached to the eustachian valve.
Case Reports Case 1. This 10 week old infant was admitted with a 3 day history of fever, and a I day history of swelling and erythema of the second digit on his right hand. Physical examination revealed a temperature of 40.6°C, a grade 2/6 systolic ejection murmur and swelling with erythema of the proximal interphalangeal joint of the second digit of the right hand. Laboratory data included a white blood cell count of 18,700 mm 3 and an erythrocyte sedimentation rate of 40 mm in 1 hour. Urine analysis, lumbar puncture, chest X0735-1097/84/$3.00
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ray film and bone scan were normal. Group B beta-hemolytic streptococci were identified in the admission blood culture. A two-dimensional echocardiographic examination revealed an irregularly shaped mass attached to the anterior leaflet of the mitral valve. Despite adequate antibiotic therapy for bacterial endocarditis, 3 weeks later the patient had signs and symptoms of severe mitral regurgitation. This was confirmed by cardiac catheterization. A repeat two-dimensional echocardiogram demonstrated persistence of the mass and increased left atrial size (Fig. 1). Because of progressive congestive heart failure, the patient had a mitral valve replacement with a size 17 Bjork-Shiley prosthesis. At surgery, a severely deformed mitral valve with an adherent I X I cm vegetation was found. The postoperative course was unremarkable, and 3 years later the patient remains active and well with normal growth and development. Case 2. This infant was well until 15 months of age when he developed vomiting and diarrhea. One week after the onset of gastrointestinal symptoms, he was admitted to a local hospital with the diagnosis of pulmonary edema from viral myocarditis. The infant was transferred to this institution for management of intractable congestive heart failure. One day after admission the patient developed acute right-sided hemiplegia. An electroencephalogram and a cranial axial computed tomogram documented a cerebrovascular accident involving the left cerebral hemisphere. A twodimensional echocardiogram demonstrated severe left ventricular dysfunction and a mass in the left ventricle. In the
Figure 1. Case I. Subxiphoid four chamber two-dimensional echocardiogram demonstrating a vegetation attached to the mitral valve and dilation of the left atrium (LA). The short single arrow indicates the superior remnant of the eustachian valve; the double arrows indicate the site of the vegetation. Inf = inferior; It = left; LY = left ventricle; RA = right atrium; Rt = right; Sup = superior.
lACC Vol. 3. No.3 March 1984:827-32
context of the clinical presentation and configuration of the mass by echocardiography, the lesion was diagnosed as a mural thrombus. However, anticoagulation was not begun because of the recent acute cerebrovascular accident. One month later, the patient presented with extreme irritability, abdominal pain and melena. A two-dimensional echocardiogram (Fig. 2) revealed a smooth-walled mass on the left ventricular septal surface. Anticoagulant therapy was started. In serial follow-up echocardiograms, the mass was no longer evident, suggesting either lysis or silent embolization. Three years after the onset of symptoms, the patient has progressed to normal cardiac function. However, he still has a significant motor defect of the right hand. Case 3. This infant was the product of a full-term pregnancy with normal labor and delivery. At 2 days of age, the infant developed a murmur, bradycardia and signs of congestive heart failure. A two-dimensional echocardiogram was performed which demonstrated a mass in the left ventricle. At transfer to this medical center, the infant had signs of pulmonary congestion and low cardiac output. The chest X-ray film revealed mild cardiac enlargement with diffuse pulmonary edema. A two-dimensional echocardiogram (Fig. 3) demonstrated a large tumor mass in the left ventricle attached to the anterior-lateral papillary muscle. The mass extended into the mitral valve orifice and left ventricular outflow tract. A second mass was visualized in the right ventricle attached to the free wall. At surgery, tumors were removed from the right ventri-
Figure 2. Case 2. Transverse subxiphoid view at the level of the papillary muscles demonstrating a pedunculated thrombus (single arrow) arising from the interventricular septum (lYS). ALPM = anterior lateral papillary muscle; Ant = anterior; Post = posterior; RY = right ventricle; other abbreviations as in Figure I.
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Figure 3. Case 3. Subxiphoid transverse view demonstrating rhabdomyoma (Rhabd.) involving the anterolateral papillary muscle (PM) and endocardial surface of the left ventricle (LV). free wall and ventricular septum (IVS). PMPM = posterior medial papillary muscle; other abbreviations as before.
Figure 4. Case 4. Subxiphoid transverse view showing rhabdomyoma within the right ventricular (RV) free wall extending into the cavity. Abbreviations as before.
cle, left atrium and left ventricle. Histologic study identified all lesions as rhabdomyomas. Demonstration of periventricular calcifications by cranial axial computed tomography confirmed the diagnosis of tuberous sclerosis. The postoperative period was complicated by congestive heart failure; however, the infant was discharged from the hospital in stable condition 2 months after surgery. Case 4. This infant was the product of an uncomplicated pregnancy, with normal labor and delivery. On the first day of life, atrial premature beats and second degree atrioventricular (A V) block were noted. A two-dimensional echocardiogram demonstrated masses in the apex of both the right and left ventricles. Because the infant was clinically well, he was discharged. At 2 months of age, although the physical examination continued to be unremarkable, atrial premature beats and left ventricular hypertrophy with strain were present on the electrocardiogram. A two-dimensional echocardioxram (Fig. 4) demonstrated a large intramural mass extending into the right ventricular cavity from the free wall. The left ventricular mass seen in the previous echocardiogram was no longer present. At cardiac catheterization, there was no physiologic obstruction; however, a large filling defect was visualized angiographically in the apex of the right ventricle. At surgery, masses were removed from the apex of the right ventricle and from the junction of the superior vena cava and right atrium. The right atrial mass was not prospectively identified. Histologic examination identified both lesions as rhabdomyomas. The postoperative course was uncomplicated and there was resolution of the arrhythmias. This infant did not manifest signs of tuberous sclerosis, and there was a negative family history for this genetic disorder.
Case 5. This infant was born to a 31 y~ar old mother. Because a prior sibling was born with hydrocephalus, a fetal ultrasound examination was performed at 37 weeks' gestation; it demonstrated an intracavitary right ventricular mass. There was no apparent distress and the baby was delivered by cesarean section at 40 weeks. The infant was transferred for further evaluation because of the prenatal impression of the intracardiac tumor. Physical examination, chest X-ray film and electrocardiogram performed on the infant were normal on arrival at 2 hours of age. Two-dimensional echocardiography demonstrated masses in the left atrium, attached to the free wall of the left ventricle and within the interventricular septum (Fig. 5). Cardiac catheterization and angiography demonstrated filling defects in both the right and left ventricles; however, no obstruction was measured. Because the baby had no evidence of hemodynamic compromise or significant arrhythmias, the masses, presumed to be rhabdomyomas. were not surgically removed. At 5 months of age, a repeat two-dimensional echocardiogram showed that the right ventricular masses were smaller and the left ventricular mass was no longer visible. At I year of age, the infant developed typical dermatologic and neurologic features of tuberous sclerosis. Case 6. This infant was delivered by cesarean section at 40 weeks' gestation because of breech presentation. The Apgar scores were I and 6 at I and 5 minutes, respectively. and the baby was intubated and transferred to this medical center. On arrival. the baby had multiple congenital anomalies consisting of low set cars, hypertelorism and absent thumbs bilaterally. A grade 4/6 pansystolic murmur, gallop rhythm and poor systemic perfusion were noted.
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JACC Vol. 3. No.3 March 1984:827-32
teeted by echocardiography was a fibro-fatty nodule attached to a fenestrated eustachian valve (Fig. 7).
Discussion
Figure 5. Case 5. Subxiphoid four chamber two-dimensional echocardiogram demonstrating rhabdomyomas (Rhabd.) in the left atrium (LA). attached to the free wall of the left ventricle (LV) and within the interventricular septum (arrows). Abbreviations as before.
A two-dimensional echocardiogram (Fig. 6) demonstrated a large subaortic ventricular septal defect and an irregularly shaped mass in the right atrium adjacent to the tricuspid valve anulus. Because of the multiple congenital anomalies, a chromosome analysis was performed and a trisomy 18 karyotype was demonstrated. The baby died at 24 hours of age. Postmortem examination confirmed the presence of a large membranous ventricular septal defect. The mass de-
Figure 6. Case 6. Subxiphoid four chamber view demonstrating fibro-fat.ty nodule adjacent to the tricuspid valve anulus (TVA). The single arrow denotes the interatrial septum. MV == mitral valve; NOD = nodule; RUPV = right upper pulmonary vein; other abbreviations as before.
Two-dimensional echocardiography in bacterial endocarditis (Case 1). M-mode and two-dimensional echocardiography have contributed to the early diagnosis of intracardiac vegetations in adolescent and adult patients with bacterial endocarditis (17-23). The recognition of intracardiac vegetations in infancy has been infrequent (26,27) owing, in part, to the low incidence of endocarditis in this age group (7-9). In addition, endocarditis has often presented as an acute septic illness, that is, pneumonia, osteomyelitis or meningitis (7-11). In these infants with sepsis and various foci of infection, vegetations have not been suspected and their presence has been diagnosed only after autopsy examination (7-9). In our 10 week old patient (Case 1), the large mass visualized by two-dimensional echocardiography was irregularly shaped, attached to the mitral valve anulus and demonstrated a flail motion that did not parallel the movement of the adjacent valve structures and myocardium. This appearance was similar to that reported in adult patients with vegetations from bacterial endocarditis (17,20,21). Although our patient presented with bacterial sepsis and a localized source of infection, two-dimensional echocardiography detected the vegetation early in the course of his Figure 7. Case 6. Pathologic specimen with right atrial free wall opened and looking downward into the tricuspid valve anulus. The arrow denotes the fibro-fatty nodule attached to the eustachian valve.
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illness, firmly establishing the diagnosis of endocarditis, When the vegetation persisted, as demonstrated by twodimensional echocardiography, and congestive heart failure worsened, mitral valve replacement with a prosthetic valve was performed successfully. Two-dimensional echocardiography in ventricular thrombus (Case 2). The visualization of intracardiac thrombi by echocardiography has been reported in adults (12-16) and only one isolated case has been reported in a child (23). The left ventricular thrombus in our Case 2 appeared as a smooth-walled mass attached to the myocardial surface. This is similar to the appearance of left ventricular thrombi reported in adults with myocarditis (15). In this infant who presented with severe left ventricular dysfunction, earlier recognition of the intracardiac thrombus by echocardiography may have prompted the use of anticoagulant therapy, potentially preventing the formation of future thrombi and its attendant embolic complications. Some investigators (28) recommend anticoagulation therapy for all infants and children with cardiomyopathy. To date, the incidence of thrombi in patients this age with cardiomyopathy is not well established. However, two-dimensional echocardiography could be useful in determining the existence of thrombi in susceptible infants, lending support for the use of anticoagulant therapy in the individual patient. Two-dimensional echocardiography in primary cardiac tumors (Cases 3, 4, 5). The low incidence of symptomatic primary myocardial tumors in infancy has limited the noninvasive experience with these lesions in this age group (1-6,23,29). Rhabdomyomas are the most common primary cardiac tumor in infancy. They are usually multiple and can occur anywhere in the heart (1-6,30,31). These nodules may encroach on the intracavitary spaces severely occluding blood flow across the AV or semilunar valves. Because of the characteristic appearance of the masses in Patients 3, 4 and 5, the lesions were prospectively diagnosed as rhabdomyomas. This diagnosis was confirmed at surgery in two of the patients. Although fibromas are the second most common primary cardiac tumor in this age group (1,2,4,6), this diagnosis was not entertained in our patients. Fibromas are usually single large intramural masses that involve the left ventricular septal surface or free wall. This appearance was not like the multiple nodular masses that occurred in our patients. Other tumors, such as myxomas, malignant sarcomas and pericardial tumors, are exceedingly rare in this age group and usually do not involve several chambers of the heart simultaneousIy (1-4,6). Echocardiography provided the diagnosis and aided in the management of these patients with tumors. Successful surgical removal of rhabdomyomas was performed in one infant (Case 3) without prior cardiac catheterization. In this critically ill infant, echocardiography demonstrated large
MARX ET AL. DIAGNOSIS OF INTRACARDIAC MASSES IN INFANCY
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tumor masses in both the mitral and aortic positions. This information guided surgical intervention, and avoided the delay of cardiac catheterization and risk associated with cineangiography. In Case 5, serial two-dimensional echocardiography documented resolution of the tumors, obviating the need for repeat cardiac catheterization. This finding substantiated previous reports (5) that rhabdomyomas may "regress spontaneously without causing any appreciable impairment of cardiac function." Approximately hall' of all patients with rhabdomyomas have tuberous sclerosis (I). Even though the typical signs of tuberous sclerosis, such as seizures, mental retardation and adenoma sebaceum, do not present until a later age (31), this diagnosis should be considered when rhabdomyomas are visualized in the newborn or infant. Because this disease is inherited as an autosomal dominant pattern, when there is a positive family history, two-dimensional echocardiography could be valuable in the screening of the fetus or newborn for the presence of rhabdomyomas. Value of two-dimensional echocardiography in differential diagnosis of intracardiac masses. In the infant group considered in this report, 735 infants did not have intracardiac masses visualized by two-dimensional echocardiography. Among these patients who had either cardiac catheterization or intracardiac surgery, none had evidence to suggest cardiac tumors. However, because not all patients had either catheterization, surgery or autopsy examination looking specifically for intracardiac masses, we do not address the specificity or sensitivity of this technique. We believe that two-dimensional echocardiography can provide useful information in the differentiation of intracardiac masses, especially in the context of associated clinical findings. Thus: I) vegetations from endocarditis, as in our Case I, usually are irregularly shaped masses attached to valve leaflets and manifest a flail motion unrelated to the movement of the myocardium or valve structures; 2) rhabdomyomas are predominantly multiple intramural nodules or masses that coexist in several areas of the heart; however, they may invade the intracavitary space; 3) intracardiac thrombi usually appear as smooth-walled bright masses attached to the endocardial surface. In our Case 6, the mass in the right atrium demonstrated by echocardiography appeared similar to a vegetation. We did not expect this mass to be eustachian valve tissue. The presence of a normal variant, that is, eustachian valve tissue, should be considered in the differential diagnosis of right atrial masses. Implications. Two-dimensional echocardiography is a noninvasive technique that can detect and differentiate intracardiac masses that occur in infants. In critically ill infants requiring urgent surgical intervention, echocardiography offers an alternative to cardiac catheterization. In infants in a hemodynamically stable condition, this technique can serially detect changes in size or location of the masses, thus guiding future medical or surgical intervention. Two-di-
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mensional echocardiography should also be included in the evaluation of newborns or infants who have a genetic predisposition for the development of intracardiac masses, such as those with tuberous sclerosis. We thank Stephen Sanders, MD and Alexander Nadas, MD for their help in the preparation and review of this manuscript. The technical assistance of Marybeth Bethune, and the secretarial assistance of Barbara Cesaro, Judy Sprauer and Cheryl Czaplicki are greatly appreciated.
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15. DeMaria AN, Bommer W, Neumann A, et al. Left ventricular thrombi identified by cross-sectional echocardiography. Ann Intern Med 1979;90: 14-8. 16. Mikell FL, Asinger RW, Rourke T, Hodges M, Sharma B, Francis GS. Two-dimensional echocardiographic demonstration of left atrial thrombi in patients with prosthetic mitral valves. Circulation 1979:60: 1183-90. 17. Martin RP, Meltzer RS, Chia BL, Stinson EB, Rakowski H, Popp RL. Clinical utility of two-dimensional echocardiography in infective endocarditis. Am J Cardiol 1980;46:379-85. 18. Dillon JC, Feigenbaum H, Konecke LL, Davis RH, Chang S. Echocardiographic manifestations of valvular vegetations. Am Heart J 1973;86:69.8-704.
References
19. Wann LS, Dillon JC, Weyman AE, Feigenbaum H. Echocardiography in bacterial endocarditis. N Engl J Med 1976; 195: 135-8.
I. Fowler RS, Keith JD. Cardiac tumors. In: Keith 10, Rowe RD, Vlad P, eds. Heart Disease in Infancy and Childhood. New York: Macmillan, 1978: 1040-5.
20. Mintz GS, Kotler MN, Segal BL, Parry WR. Comparison of twodimensional and M-mode echocardiography in the evaluation of patients with infective endocarditis. Am J Cardiol 1979;43:738-44.
2. Nadas AS, Ellison CR. Cardiac tumors in infancy. Am J Cardiol 1968;21 :363-6.
21. Gilbert BW, Haney RS, Crawford F, et al. Two-dimensional echocardiographic assessment of vegetative endocarditis. Circulation 1977;55:346-53.
3. Van der Hauwaert LG. Cardiac tumors in infancy and childhood. Br Heart J 1971;33:125-32. 4. Bigelow NH, Klinger S, Wright AW. Primary tumors of the heart in infancy and early childhood. Cancer 1954;7:549-63. 5. Longino LA, Meeker IA. Primary cardiac tumors in infancy. J Pediatr 1953;43:724-31. 6. Simcha A, Wells BG, Tynan MJ, Waterston J. Primary cardiac tumors in childhood. Arch Dis Child 1971 ;46:508-14. 7. Johnson DH, Rosenthal A, Nadas AS. Bacterial endocarditis in children under two years of age. Am J Dis Child 1975:129:183-6. 8. Macaulay D. Acute endocarditis in infancy and early childhood. Am J Dis Child 1954;88:715-31. 9. White PD. The incidence of endocarditis in earliest childhood. Am J Dis Child 1926:32:536-49. 10. Edwards K, Ingall 0, Czapek E, Davis T. Bacterial endocarditis in 4 young infants. Is this complication on the increase') Clin Pediatr 1977;607-9.
22. Dillon T, Meyer RA, Korfhagen Je. Kaplan S, Chung KJ. Management of infective endocarditis using echocardiography. J Pediatr 1980:96:552-8. 23. Riggs T, Paul MN, DeLeon S, Ilbawi M. Two-dimensional echocardiography in evaluation of right atrial masses; five cases in pediatric patients. Am J Cardiol 1981;48:961-6. 24. Bierman FZ, Williams RG. Subxiphoid two-dimensional imaging of the interatrial septum in infants and neonates with congenital heart defects. Circulation 1974;60:80-90. 25. Bierman FZ, Fellows K, Williams RG. Prospective identification of ventricular septal defects in infancy using subxiphoid two-dimensional echocardiography. Circulation 1980;62:807-18. 26. Bender RL, Jaffee RB, McCarthy 0, Ruttenberg HD. Echocardiographic diagnosis of bacterial endocarditis of the mitral valve in a neonate. Am J Dis Child 1977:131:746-9. 27. Weinberg AG, Laird WP. Group f3 streptococcal endocarditis detected by echocardiography. J Pediatr 1978;92:335-6.
11. Bleiden LC, Morehead RR, Burke B, Kaplan EL. Bacterial endocarditis in the neonate. Am J Dis Child 1972:124:474-9.
28. Harris L, Powell G, Brown OW. Primary myocardial diseases. Pediatr Clin North Am 1978;25:847-67.
12. DePace NL, Soulen RL, Kotler NM, Mintz GS. Two-dimensional echocardiographic detection of intra-atrial masses. Am J Cardiol 1981 ;48:954-60.
29. Oliva PB, Breckinridge JC, Johnson ML, Brantigan CO, O'Meara OP. Left ventricular outflow obstruction produced by a pedunculated fibroma in a newborn. Chest 1978;74:590-3.
13. Ports TA, Cogan J, Schiller NB, Rapaport E. Echocardiography of left ventricular masses. Circulation 1978:58:528-36.
30. Shaher RM, Mintzner 1, Farina M, Alley R, Bishop M. Clinical presentation of rhabdomyoma of the heart in infancy and childhood. Am J Cardio] 1972:30:95-103. '
14. Come PC, Riley MF, Markis JE, Malagold M. Limitations of echocardiographic techniques in evaluation of left atrial masses. Am J CardioI1981;48:947-53.
31. Barakat A, Cochran 1978;17:875-9.
WE.
Tuberous
sclerosis.
Clin
Pediatr
JACC Vol. 3, No.3 March 1984:827-32
PEDIATRIC CARDIOLOGY
Two-Dimensional Echocardiographic Diagnosis of Intracardiac Masses in Infancy GERALD R. MARX, MD,* FREDERICK Z. BIERMAN, MD, FACC, EDWARD MATTHEWS, MD, ROBERTA WILLIAMS, MD, FACC Boston, Massachusetts
Intracardiac masses in infancy are uncommon. Tumors, thrombi and vegetations of bacterial endocarditis are exceedingly rare in this age group. These masses are seldom diagnosed before the infant's death. In a review of two-dimensional echocardiograms performed from May 1979 to January 1981 on 741 infants less than 2 years of age, intracardiac masses were prospectively identified in 6 patients. All six patients presented with unexplained murmurs associated with either
lntracardiac masses in infancy are uncommon. Tumors, thrombi and vegetations of bacterial endocarditis are exceedingly rare in this age group. These masses are seldom diagnosed before the infant's death (I-II). The detection of intracardiac masses by M-mode and two-dimensional echocardiography has been described in adolescent and adult patients (12-23), This report summarizes the use of twodimensional echocardiography in the diagnosis and treatment of six infants, all less than 2 years of age, with intracardiac masses,
Methods Subxiphoid two-dimensional echocardiograms were performed between May 1979, and January 1981 on 741 infants less than 2 years of age. All studies were performed using a Picker 80 cardiac imager with mechanical sector scanner and 5 MHz short focus transducer. lntracardiac anatomy was examined using four chamber, long-axis and short-axis subxiphoid projections (24,25), Other projections, such as From the Department of Cardiology, The Children's Hospital Medical Center and Department of Pediatrics, Harvard Medical School. Boston, Massachusetts. This study was supported in part by Grant 5 T 32 HL 0719304 from the National Institutes of Health, Bethesda, Maryland. Manuscript received March 16, 1983; revised manuscript received September 26, 1983, accepted September 30, 1983. *Present address and address for reprints: Gerald R. Marx. MD, Department of Pediatrics (Cardiology), University of Arizona, Health Sciences Center, Tucson, Arizona 85724. © 1984 by the American College of Cardiology
hemodynamic instability, arrhythmias or systemic emboli. One patient had a vegetation from bacterial en· docarditis, one had an intracardiac thrombus associated with myocarditis, three had rhabdomyomas (two pa· tients with tuberous sclerosis) and one had a fibro-fatty nodule attached to the eustachian valve. Two-dimensional echocardiography not only was important in the diagnosis, but also provided guidance in the medical and surgical treatment of these patients.
parasternal long- and short-axis and apical four chamber views, could have been used to visualize these masses. The use of the subxiphoid technique in these patients was a matter of the echocardiographer's preference at the time of these studies.
Results In a review of all two-dimensional echocardiograms performed on infants less than 2 years of age, intracardiac masses were prospectively identified in 6 of 741 patients. One infant (Case I) had a vegetation from bacterial endocarditis; one (Case 2) had an intracardiac thrombus associated with myocarditis; three (Cases 3, 4, 5) had rhabdomyomas (two of these three had tuberous sclerosis) and one patient (Case 6) had a fibro-fatty nodule attached to the eustachian valve.
Case Reports Case 1. This 10 week old infant was admitted with a 3 day history of fever, and a I day history of swelling and erythema of the second digit on his right hand. Physical examination revealed a temperature of 40.6°C, a grade 2/6 systolic ejection murmur and swelling with erythema of the proximal interphalangeal joint of the second digit of the right hand. Laboratory data included a white blood cell count of 18,700 mm 3 and an erythrocyte sedimentation rate of 40 mm in 1 hour. Urine analysis, lumbar puncture, chest X0735-1097/84/$3.00
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ray film and bone scan were normal. Group B beta-hemolytic streptococci were identified in the admission blood culture. A two-dimensional echocardiographic examination revealed an irregularly shaped mass attached to the anterior leaflet of the mitral valve. Despite adequate antibiotic therapy for bacterial endocarditis, 3 weeks later the patient had signs and symptoms of severe mitral regurgitation. This was confirmed by cardiac catheterization. A repeat two-dimensional echocardiogram demonstrated persistence of the mass and increased left atrial size (Fig. 1). Because of progressive congestive heart failure, the patient had a mitral valve replacement with a size 17 Bjork-Shiley prosthesis. At surgery, a severely deformed mitral valve with an adherent I X I cm vegetation was found. The postoperative course was unremarkable, and 3 years later the patient remains active and well with normal growth and development. Case 2. This infant was well until 15 months of age when he developed vomiting and diarrhea. One week after the onset of gastrointestinal symptoms, he was admitted to a local hospital with the diagnosis of pulmonary edema from viral myocarditis. The infant was transferred to this institution for management of intractable congestive heart failure. One day after admission the patient developed acute right-sided hemiplegia. An electroencephalogram and a cranial axial computed tomogram documented a cerebrovascular accident involving the left cerebral hemisphere. A twodimensional echocardiogram demonstrated severe left ventricular dysfunction and a mass in the left ventricle. In the
Figure 1. Case I. Subxiphoid four chamber two-dimensional echocardiogram demonstrating a vegetation attached to the mitral valve and dilation of the left atrium (LA). The short single arrow indicates the superior remnant of the eustachian valve; the double arrows indicate the site of the vegetation. Inf = inferior; It = left; LY = left ventricle; RA = right atrium; Rt = right; Sup = superior.
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context of the clinical presentation and configuration of the mass by echocardiography, the lesion was diagnosed as a mural thrombus. However, anticoagulation was not begun because of the recent acute cerebrovascular accident. One month later, the patient presented with extreme irritability, abdominal pain and melena. A two-dimensional echocardiogram (Fig. 2) revealed a smooth-walled mass on the left ventricular septal surface. Anticoagulant therapy was started. In serial follow-up echocardiograms, the mass was no longer evident, suggesting either lysis or silent embolization. Three years after the onset of symptoms, the patient has progressed to normal cardiac function. However, he still has a significant motor defect of the right hand. Case 3. This infant was the product of a full-term pregnancy with normal labor and delivery. At 2 days of age, the infant developed a murmur, bradycardia and signs of congestive heart failure. A two-dimensional echocardiogram was performed which demonstrated a mass in the left ventricle. At transfer to this medical center, the infant had signs of pulmonary congestion and low cardiac output. The chest X-ray film revealed mild cardiac enlargement with diffuse pulmonary edema. A two-dimensional echocardiogram (Fig. 3) demonstrated a large tumor mass in the left ventricle attached to the anterior-lateral papillary muscle. The mass extended into the mitral valve orifice and left ventricular outflow tract. A second mass was visualized in the right ventricle attached to the free wall. At surgery, tumors were removed from the right ventri-
Figure 2. Case 2. Transverse subxiphoid view at the level of the papillary muscles demonstrating a pedunculated thrombus (single arrow) arising from the interventricular septum (lYS). ALPM = anterior lateral papillary muscle; Ant = anterior; Post = posterior; RY = right ventricle; other abbreviations as in Figure I.
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Figure 3. Case 3. Subxiphoid transverse view demonstrating rhabdomyoma (Rhabd.) involving the anterolateral papillary muscle (PM) and endocardial surface of the left ventricle (LV). free wall and ventricular septum (IVS). PMPM = posterior medial papillary muscle; other abbreviations as before.
Figure 4. Case 4. Subxiphoid transverse view showing rhabdomyoma within the right ventricular (RV) free wall extending into the cavity. Abbreviations as before.
cle, left atrium and left ventricle. Histologic study identified all lesions as rhabdomyomas. Demonstration of periventricular calcifications by cranial axial computed tomography confirmed the diagnosis of tuberous sclerosis. The postoperative period was complicated by congestive heart failure; however, the infant was discharged from the hospital in stable condition 2 months after surgery. Case 4. This infant was the product of an uncomplicated pregnancy, with normal labor and delivery. On the first day of life, atrial premature beats and second degree atrioventricular (A V) block were noted. A two-dimensional echocardiogram demonstrated masses in the apex of both the right and left ventricles. Because the infant was clinically well, he was discharged. At 2 months of age, although the physical examination continued to be unremarkable, atrial premature beats and left ventricular hypertrophy with strain were present on the electrocardiogram. A two-dimensional echocardioxram (Fig. 4) demonstrated a large intramural mass extending into the right ventricular cavity from the free wall. The left ventricular mass seen in the previous echocardiogram was no longer present. At cardiac catheterization, there was no physiologic obstruction; however, a large filling defect was visualized angiographically in the apex of the right ventricle. At surgery, masses were removed from the apex of the right ventricle and from the junction of the superior vena cava and right atrium. The right atrial mass was not prospectively identified. Histologic examination identified both lesions as rhabdomyomas. The postoperative course was uncomplicated and there was resolution of the arrhythmias. This infant did not manifest signs of tuberous sclerosis, and there was a negative family history for this genetic disorder.
Case 5. This infant was born to a 31 y~ar old mother. Because a prior sibling was born with hydrocephalus, a fetal ultrasound examination was performed at 37 weeks' gestation; it demonstrated an intracavitary right ventricular mass. There was no apparent distress and the baby was delivered by cesarean section at 40 weeks. The infant was transferred for further evaluation because of the prenatal impression of the intracardiac tumor. Physical examination, chest X-ray film and electrocardiogram performed on the infant were normal on arrival at 2 hours of age. Two-dimensional echocardiography demonstrated masses in the left atrium, attached to the free wall of the left ventricle and within the interventricular septum (Fig. 5). Cardiac catheterization and angiography demonstrated filling defects in both the right and left ventricles; however, no obstruction was measured. Because the baby had no evidence of hemodynamic compromise or significant arrhythmias, the masses, presumed to be rhabdomyomas. were not surgically removed. At 5 months of age, a repeat two-dimensional echocardiogram showed that the right ventricular masses were smaller and the left ventricular mass was no longer visible. At I year of age, the infant developed typical dermatologic and neurologic features of tuberous sclerosis. Case 6. This infant was delivered by cesarean section at 40 weeks' gestation because of breech presentation. The Apgar scores were I and 6 at I and 5 minutes, respectively. and the baby was intubated and transferred to this medical center. On arrival. the baby had multiple congenital anomalies consisting of low set cars, hypertelorism and absent thumbs bilaterally. A grade 4/6 pansystolic murmur, gallop rhythm and poor systemic perfusion were noted.
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teeted by echocardiography was a fibro-fatty nodule attached to a fenestrated eustachian valve (Fig. 7).
Discussion
Figure 5. Case 5. Subxiphoid four chamber two-dimensional echocardiogram demonstrating rhabdomyomas (Rhabd.) in the left atrium (LA). attached to the free wall of the left ventricle (LV) and within the interventricular septum (arrows). Abbreviations as before.
A two-dimensional echocardiogram (Fig. 6) demonstrated a large subaortic ventricular septal defect and an irregularly shaped mass in the right atrium adjacent to the tricuspid valve anulus. Because of the multiple congenital anomalies, a chromosome analysis was performed and a trisomy 18 karyotype was demonstrated. The baby died at 24 hours of age. Postmortem examination confirmed the presence of a large membranous ventricular septal defect. The mass de-
Figure 6. Case 6. Subxiphoid four chamber view demonstrating fibro-fat.ty nodule adjacent to the tricuspid valve anulus (TVA). The single arrow denotes the interatrial septum. MV == mitral valve; NOD = nodule; RUPV = right upper pulmonary vein; other abbreviations as before.
Two-dimensional echocardiography in bacterial endocarditis (Case 1). M-mode and two-dimensional echocardiography have contributed to the early diagnosis of intracardiac vegetations in adolescent and adult patients with bacterial endocarditis (17-23). The recognition of intracardiac vegetations in infancy has been infrequent (26,27) owing, in part, to the low incidence of endocarditis in this age group (7-9). In addition, endocarditis has often presented as an acute septic illness, that is, pneumonia, osteomyelitis or meningitis (7-11). In these infants with sepsis and various foci of infection, vegetations have not been suspected and their presence has been diagnosed only after autopsy examination (7-9). In our 10 week old patient (Case 1), the large mass visualized by two-dimensional echocardiography was irregularly shaped, attached to the mitral valve anulus and demonstrated a flail motion that did not parallel the movement of the adjacent valve structures and myocardium. This appearance was similar to that reported in adult patients with vegetations from bacterial endocarditis (17,20,21). Although our patient presented with bacterial sepsis and a localized source of infection, two-dimensional echocardiography detected the vegetation early in the course of his Figure 7. Case 6. Pathologic specimen with right atrial free wall opened and looking downward into the tricuspid valve anulus. The arrow denotes the fibro-fatty nodule attached to the eustachian valve.
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illness, firmly establishing the diagnosis of endocarditis, When the vegetation persisted, as demonstrated by twodimensional echocardiography, and congestive heart failure worsened, mitral valve replacement with a prosthetic valve was performed successfully. Two-dimensional echocardiography in ventricular thrombus (Case 2). The visualization of intracardiac thrombi by echocardiography has been reported in adults (12-16) and only one isolated case has been reported in a child (23). The left ventricular thrombus in our Case 2 appeared as a smooth-walled mass attached to the myocardial surface. This is similar to the appearance of left ventricular thrombi reported in adults with myocarditis (15). In this infant who presented with severe left ventricular dysfunction, earlier recognition of the intracardiac thrombus by echocardiography may have prompted the use of anticoagulant therapy, potentially preventing the formation of future thrombi and its attendant embolic complications. Some investigators (28) recommend anticoagulation therapy for all infants and children with cardiomyopathy. To date, the incidence of thrombi in patients this age with cardiomyopathy is not well established. However, two-dimensional echocardiography could be useful in determining the existence of thrombi in susceptible infants, lending support for the use of anticoagulant therapy in the individual patient. Two-dimensional echocardiography in primary cardiac tumors (Cases 3, 4, 5). The low incidence of symptomatic primary myocardial tumors in infancy has limited the noninvasive experience with these lesions in this age group (1-6,23,29). Rhabdomyomas are the most common primary cardiac tumor in infancy. They are usually multiple and can occur anywhere in the heart (1-6,30,31). These nodules may encroach on the intracavitary spaces severely occluding blood flow across the AV or semilunar valves. Because of the characteristic appearance of the masses in Patients 3, 4 and 5, the lesions were prospectively diagnosed as rhabdomyomas. This diagnosis was confirmed at surgery in two of the patients. Although fibromas are the second most common primary cardiac tumor in this age group (1,2,4,6), this diagnosis was not entertained in our patients. Fibromas are usually single large intramural masses that involve the left ventricular septal surface or free wall. This appearance was not like the multiple nodular masses that occurred in our patients. Other tumors, such as myxomas, malignant sarcomas and pericardial tumors, are exceedingly rare in this age group and usually do not involve several chambers of the heart simultaneousIy (1-4,6). Echocardiography provided the diagnosis and aided in the management of these patients with tumors. Successful surgical removal of rhabdomyomas was performed in one infant (Case 3) without prior cardiac catheterization. In this critically ill infant, echocardiography demonstrated large
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tumor masses in both the mitral and aortic positions. This information guided surgical intervention, and avoided the delay of cardiac catheterization and risk associated with cineangiography. In Case 5, serial two-dimensional echocardiography documented resolution of the tumors, obviating the need for repeat cardiac catheterization. This finding substantiated previous reports (5) that rhabdomyomas may "regress spontaneously without causing any appreciable impairment of cardiac function." Approximately hall' of all patients with rhabdomyomas have tuberous sclerosis (I). Even though the typical signs of tuberous sclerosis, such as seizures, mental retardation and adenoma sebaceum, do not present until a later age (31), this diagnosis should be considered when rhabdomyomas are visualized in the newborn or infant. Because this disease is inherited as an autosomal dominant pattern, when there is a positive family history, two-dimensional echocardiography could be valuable in the screening of the fetus or newborn for the presence of rhabdomyomas. Value of two-dimensional echocardiography in differential diagnosis of intracardiac masses. In the infant group considered in this report, 735 infants did not have intracardiac masses visualized by two-dimensional echocardiography. Among these patients who had either cardiac catheterization or intracardiac surgery, none had evidence to suggest cardiac tumors. However, because not all patients had either catheterization, surgery or autopsy examination looking specifically for intracardiac masses, we do not address the specificity or sensitivity of this technique. We believe that two-dimensional echocardiography can provide useful information in the differentiation of intracardiac masses, especially in the context of associated clinical findings. Thus: I) vegetations from endocarditis, as in our Case I, usually are irregularly shaped masses attached to valve leaflets and manifest a flail motion unrelated to the movement of the myocardium or valve structures; 2) rhabdomyomas are predominantly multiple intramural nodules or masses that coexist in several areas of the heart; however, they may invade the intracavitary space; 3) intracardiac thrombi usually appear as smooth-walled bright masses attached to the endocardial surface. In our Case 6, the mass in the right atrium demonstrated by echocardiography appeared similar to a vegetation. We did not expect this mass to be eustachian valve tissue. The presence of a normal variant, that is, eustachian valve tissue, should be considered in the differential diagnosis of right atrial masses. Implications. Two-dimensional echocardiography is a noninvasive technique that can detect and differentiate intracardiac masses that occur in infants. In critically ill infants requiring urgent surgical intervention, echocardiography offers an alternative to cardiac catheterization. In infants in a hemodynamically stable condition, this technique can serially detect changes in size or location of the masses, thus guiding future medical or surgical intervention. Two-di-
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mensional echocardiography should also be included in the evaluation of newborns or infants who have a genetic predisposition for the development of intracardiac masses, such as those with tuberous sclerosis. We thank Stephen Sanders, MD and Alexander Nadas, MD for their help in the preparation and review of this manuscript. The technical assistance of Marybeth Bethune, and the secretarial assistance of Barbara Cesaro, Judy Sprauer and Cheryl Czaplicki are greatly appreciated.
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15. DeMaria AN, Bommer W, Neumann A, et al. Left ventricular thrombi identified by cross-sectional echocardiography. Ann Intern Med 1979;90: 14-8. 16. Mikell FL, Asinger RW, Rourke T, Hodges M, Sharma B, Francis GS. Two-dimensional echocardiographic demonstration of left atrial thrombi in patients with prosthetic mitral valves. Circulation 1979:60: 1183-90. 17. Martin RP, Meltzer RS, Chia BL, Stinson EB, Rakowski H, Popp RL. Clinical utility of two-dimensional echocardiography in infective endocarditis. Am J Cardiol 1980;46:379-85. 18. Dillon JC, Feigenbaum H, Konecke LL, Davis RH, Chang S. Echocardiographic manifestations of valvular vegetations. Am Heart J 1973;86:69.8-704.
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