PediatrCardiol 12:121-122, 1991
Pediatric Cardiology 9 Springer-Verlag N e w York Inc. 1991
Hypoplastic Left Heart Syndrome with Rhabdomyoma
of the Left Ventricle
Toshihiko Watanabefl Yasuo Hojo, 1 Takeshi Kozaki, 1 Masami Nagashima, 2 and Masahiko Ando 3 ~Department of Pediatrics, National Nagoya Hospital, Nagoya: 3Department of Pediatrics, Nagoya University School of Medicine, Nagoya: and 3Department of Pediatric Cardiology, Tokyo Women's Medical College, Tokyo, Japan
SUMMARY. A case of primary cardiac tumor with hypoplastic left heart syndrome (HLH) is presented. Sonographic examination at 32 weeks' gestation revealed a large tumor in the left ventricle of the fetal heart. The newborn died of congestive heart failure at 11 days of age. Autopsy demonstrated a large tumor in the left ventricle obliterating most of the left ventricular cavity, aortic atresia, and hypoplastic ascending aorta. Microscopically, the cardiac tumor showed "spider-cells" characteristics of rhabdomyoma. KEY WORDS: Hypoplastic left heart syndrome - - Cardiac tumor - - Fetal echocardiography - - Rhabdomyoma
Case Report Intrauterine growth retardation and an intracardiac tumor were detected by sonographic examination at 32 weeks' gestation. The examination had been carried out because of suspected poor fetal growth. Because a nonstress test revealed a nonreactive pattern at 37 weeks' gestation, a cesarean section was performed. The male newborn weighed 1840 g. Peripheral cyanosis was present on crying. On ausculation of the heart, a gallop rhythm and accentuated second sound without murmur were present. The chest x-ray film demonstrated remarkable cardiomegaly and increased pulmonary vascularity. The electrocardiogram had right axis deviation, right ventricular hypertrophy, flattened T waves in the limb leads, and AV dissociation. Twodimensional echocardiography (Fig. 1) showed a large tumor in the left ventricle with only a slit-like cavity. The short axis view identified a dilated right atrium, right ventricle, and pulmonary trunk, and the parasternal long axis view showed a hypoplastic ascending aorta arising from the left ventricle. At 3 days of age, he developed congestive heart failure and, despite medical therapy, he died suddenly at 11 days of age. The autopsy revealed a large tumor of the left ventricle which involved all the walls, leaving a small slit-like cavity. The aortic valve was atretic and exhibited complete fusion of its commissures. The ascending aorta was also moderately to severely hypoplastic. Mild coarctation of the aorta co-existed. A normal but miniature mitral valve was present. Right atrium and right Address reprint requests to: Dr. Toshihiko Watanabe, Department of Pediatrics, National Nagoya Hospital, 4-1-1, Sannomaru, Naka-ku, Nagoya, Japan.
ventricle were markedly dilated and hypertrophied, and the pulmonary artery was also dilated. Tricuspid regurgitation due to dysplasia of the valve and a dilated annulus were recognized. There was a secundum atrial septal defect (ASD) which was small and due to an incompetent valve of the foramen ovale. The heart showed right juxtaposition of the atrial appendates with a d-looped ventricle (Fig. 2). Detailed histological examination of the tumor showed normal left ventricular myocardial tissue clearly separated from the tumor tissue in cut section, and microscopically the cardiac tumor showed "spider-cells" characteristic of rhabdomyoma. The final diagnosis was rhabdomyoma of the left ventricle. Neither the baby nor the mother showed evidence of tuberous sclerosis.
Discussion Primary cardiac tumors in infancy and childhood are rare. Keith et al. [5] found an incidence of 0.0017% among hospitalized patients in the Hospital for Sick Children, Toronto, Canada. However, the advances in the diagnosis and surgical management of cardiac defects have given renewed importance to their early recognition and proper therapy [1]. Clinical manifestations depend on the size and location of the lesions. While a small tumor may be asymptomatic, a large tumor in the ventricular cavity may interfere with the outflow or inflow of blood
122
Fig. 1. Posterior angle and slightly clockwise apical four-chamber view shows huge mass in left ventricle and dilated right ventricle. RV, right ventricle. Fig. 2. Nearly sagittal section of the left atrium and left ventricle. Apical half of the left ventricle was removed. Normal miniature mitral valve, small left atrium with thickened wall, persistent foramen ovale, and tumor involving all walls of the left ventricle with small left ventricular cavity are present. LA, left atrium; LVO, left ventricular outflow tract; MV, mitral valve; PFO, persistent foramen ovale.
Pediatric Cardiology Vol. 12, No. 2, 1991
in chick e m b r y o by surgical placement of a nylon device into the region o f the left atrioventricular canal. Fenoglio et al. [3] reported some cases of cardiac r h a b d o m y o m a associated with congenital heart disease, but they did not find any case with H L H . H L H co-existing by chance with primary cardiac tumor must therefore be extremely rare.
Acknowledgment. We thank Prof. K. Watanabe for reviewing and commenting on this manuscript.
and cause heart failure [6]. Cardiac arrhythmia may also o c c u r if the conduction system is involved [6]. H L H is a rare condition; its etiology is uncertain. One o f the several hypotheses is that the abnormal formation o f the foramen ovale leads to a faulty transfer o f blood from the inferior vena cava to the left atrium in fetal life [2]. According to this " l o w flow t h e o r y , " the left atrium and the left ventricle are small, aortic valve atretic. But only I0% of H L H s have premature closure of the foramen ovale. Therefore, this hypothesis alone cannot explain the o c c u r r e n c e of H L H . In our case, an ASD was present. Atresia or severe stenosis of the aortic or mitral valve may also result in H L H . This alternative hypothesis suggests that interference with blood flow at the outflow or inflow tract of the left ventricle results in H L H . Harsh et al. [4] developed an experimental model for the production of H L H
References 1. Arciniegas E, Hakimi M, Farooki ZQ, Truccone N J, Green EW (1980) Primary cardiac tumor in children. J Thorac Cardiovasc Surg 79:582-591 2. Bharati S, Lev M (1984) The surgical anatomy of hypoplasia of aortic tract complex. J Thorac Cardiovasc Surg 88:97-101 3. Fenoglio JJ Jr, Mcallister HA Jr, Ferrans VJ (1976) Cardiac rhabdomyoma: A clinicopathologic electron microscopic study. Am J Cardiol 38:241-251 4. Harh JY, Paul MH, Gallen W J, Friedberg DZ, Kaplan S (1973) Experimental production of hypoplastic left heart syndrome in the chick embryo. Am J Cardiol 31:51-54 5. Keith JD, Rowe RD, Vlad P (1978) Heart disease in infancy and childhood, 3rd edn. Macmillan, New York, pp 1040-1045 6. Shaper RM, Mintzer J, Farina M, Alley R, Bishop M (1972) Clinical presentation of rhabdomyoma of the heart in infancy and childhood. Am J Cardiol 30:95-103
Pediatric Cardiology 9 Springer-Verlag N e w York Inc. 1991
Hypoplastic Left Heart Syndrome with Rhabdomyoma
of the Left Ventricle
Toshihiko Watanabefl Yasuo Hojo, 1 Takeshi Kozaki, 1 Masami Nagashima, 2 and Masahiko Ando 3 ~Department of Pediatrics, National Nagoya Hospital, Nagoya: 3Department of Pediatrics, Nagoya University School of Medicine, Nagoya: and 3Department of Pediatric Cardiology, Tokyo Women's Medical College, Tokyo, Japan
SUMMARY. A case of primary cardiac tumor with hypoplastic left heart syndrome (HLH) is presented. Sonographic examination at 32 weeks' gestation revealed a large tumor in the left ventricle of the fetal heart. The newborn died of congestive heart failure at 11 days of age. Autopsy demonstrated a large tumor in the left ventricle obliterating most of the left ventricular cavity, aortic atresia, and hypoplastic ascending aorta. Microscopically, the cardiac tumor showed "spider-cells" characteristics of rhabdomyoma. KEY WORDS: Hypoplastic left heart syndrome - - Cardiac tumor - - Fetal echocardiography - - Rhabdomyoma
Case Report Intrauterine growth retardation and an intracardiac tumor were detected by sonographic examination at 32 weeks' gestation. The examination had been carried out because of suspected poor fetal growth. Because a nonstress test revealed a nonreactive pattern at 37 weeks' gestation, a cesarean section was performed. The male newborn weighed 1840 g. Peripheral cyanosis was present on crying. On ausculation of the heart, a gallop rhythm and accentuated second sound without murmur were present. The chest x-ray film demonstrated remarkable cardiomegaly and increased pulmonary vascularity. The electrocardiogram had right axis deviation, right ventricular hypertrophy, flattened T waves in the limb leads, and AV dissociation. Twodimensional echocardiography (Fig. 1) showed a large tumor in the left ventricle with only a slit-like cavity. The short axis view identified a dilated right atrium, right ventricle, and pulmonary trunk, and the parasternal long axis view showed a hypoplastic ascending aorta arising from the left ventricle. At 3 days of age, he developed congestive heart failure and, despite medical therapy, he died suddenly at 11 days of age. The autopsy revealed a large tumor of the left ventricle which involved all the walls, leaving a small slit-like cavity. The aortic valve was atretic and exhibited complete fusion of its commissures. The ascending aorta was also moderately to severely hypoplastic. Mild coarctation of the aorta co-existed. A normal but miniature mitral valve was present. Right atrium and right Address reprint requests to: Dr. Toshihiko Watanabe, Department of Pediatrics, National Nagoya Hospital, 4-1-1, Sannomaru, Naka-ku, Nagoya, Japan.
ventricle were markedly dilated and hypertrophied, and the pulmonary artery was also dilated. Tricuspid regurgitation due to dysplasia of the valve and a dilated annulus were recognized. There was a secundum atrial septal defect (ASD) which was small and due to an incompetent valve of the foramen ovale. The heart showed right juxtaposition of the atrial appendates with a d-looped ventricle (Fig. 2). Detailed histological examination of the tumor showed normal left ventricular myocardial tissue clearly separated from the tumor tissue in cut section, and microscopically the cardiac tumor showed "spider-cells" characteristic of rhabdomyoma. The final diagnosis was rhabdomyoma of the left ventricle. Neither the baby nor the mother showed evidence of tuberous sclerosis.
Discussion Primary cardiac tumors in infancy and childhood are rare. Keith et al. [5] found an incidence of 0.0017% among hospitalized patients in the Hospital for Sick Children, Toronto, Canada. However, the advances in the diagnosis and surgical management of cardiac defects have given renewed importance to their early recognition and proper therapy [1]. Clinical manifestations depend on the size and location of the lesions. While a small tumor may be asymptomatic, a large tumor in the ventricular cavity may interfere with the outflow or inflow of blood
122
Fig. 1. Posterior angle and slightly clockwise apical four-chamber view shows huge mass in left ventricle and dilated right ventricle. RV, right ventricle. Fig. 2. Nearly sagittal section of the left atrium and left ventricle. Apical half of the left ventricle was removed. Normal miniature mitral valve, small left atrium with thickened wall, persistent foramen ovale, and tumor involving all walls of the left ventricle with small left ventricular cavity are present. LA, left atrium; LVO, left ventricular outflow tract; MV, mitral valve; PFO, persistent foramen ovale.
Pediatric Cardiology Vol. 12, No. 2, 1991
in chick e m b r y o by surgical placement of a nylon device into the region o f the left atrioventricular canal. Fenoglio et al. [3] reported some cases of cardiac r h a b d o m y o m a associated with congenital heart disease, but they did not find any case with H L H . H L H co-existing by chance with primary cardiac tumor must therefore be extremely rare.
Acknowledgment. We thank Prof. K. Watanabe for reviewing and commenting on this manuscript.
and cause heart failure [6]. Cardiac arrhythmia may also o c c u r if the conduction system is involved [6]. H L H is a rare condition; its etiology is uncertain. One o f the several hypotheses is that the abnormal formation o f the foramen ovale leads to a faulty transfer o f blood from the inferior vena cava to the left atrium in fetal life [2]. According to this " l o w flow t h e o r y , " the left atrium and the left ventricle are small, aortic valve atretic. But only I0% of H L H s have premature closure of the foramen ovale. Therefore, this hypothesis alone cannot explain the o c c u r r e n c e of H L H . In our case, an ASD was present. Atresia or severe stenosis of the aortic or mitral valve may also result in H L H . This alternative hypothesis suggests that interference with blood flow at the outflow or inflow tract of the left ventricle results in H L H . Harsh et al. [4] developed an experimental model for the production of H L H
References 1. Arciniegas E, Hakimi M, Farooki ZQ, Truccone N J, Green EW (1980) Primary cardiac tumor in children. J Thorac Cardiovasc Surg 79:582-591 2. Bharati S, Lev M (1984) The surgical anatomy of hypoplasia of aortic tract complex. J Thorac Cardiovasc Surg 88:97-101 3. Fenoglio JJ Jr, Mcallister HA Jr, Ferrans VJ (1976) Cardiac rhabdomyoma: A clinicopathologic electron microscopic study. Am J Cardiol 38:241-251 4. Harh JY, Paul MH, Gallen W J, Friedberg DZ, Kaplan S (1973) Experimental production of hypoplastic left heart syndrome in the chick embryo. Am J Cardiol 31:51-54 5. Keith JD, Rowe RD, Vlad P (1978) Heart disease in infancy and childhood, 3rd edn. Macmillan, New York, pp 1040-1045 6. Shaper RM, Mintzer J, Farina M, Alley R, Bishop M (1972) Clinical presentation of rhabdomyoma of the heart in infancy and childhood. Am J Cardiol 30:95-103
