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Prenatal intrapericardial teratomas: diagnosis and management
Cardiovascular Pathology 19 (2010) e1 – e4
Case Report
Prenatal intrapericardial teratomas: diagnosis and management Gursharan S. Soor a , Moyukh O. Chakrabarti a , Adriana Luk a , Jonathan R. Abraham a , Katherine Phillips a , Jagdish Butany a,b,⁎ a
Department of Pathology, Toronto General Hospital/University Health Network, Toronto, Ontario, Canada M5G 2C4 Department of Laboratory Medicine and Pathobiology, Faculty of Medicine, University of Toronto, Toronto, Canada
b
Received 8 August 2007; received in revised form 17 June 2008; accepted 4 July 2008
Abstract We present a 21-week gestation fetus, who upon routine investigation was noted to have a left-sided pleural effusion. The pregnancy was terminated, and at autopsy, a diagnosis of intrapericardial teratoma was confirmed. Primary cardiac tumors in infants and children are rare, and intrapericardial teratomas are even more so. In this brief case report, we review intrapericardial teratomas and present pertinent diagnostic and management options. © 2010 Elsevier Inc. All rights reserved. Keywords: Prenatal intrapericardial mass; Teratoma; Primary cardiac tumors
1. Introduction Primary tumors of the heart in infants and children are rare, having an incidence of 0.0017% to 0.28% [1]. The most common pediatric cardiac tumor is rhabdomyoma, followed by myxoma, fibroma, and teratoma [1–5]. Amongst the intrapericardial tumors, intrapericardial teratomas are second only to rhabdomyomas. This paper focuses on the presentation, diagnosis, and management of teratomas. Cardiac teratomas were first reported in 1890 [6]. They usually arise from the base of the heart, near the root of the aorta and pulmonary trunk, to which they are commonly attached. Their blood supply originates from the vasa vasorum of the aorta and pulmonary arteries, and histology is that of extrapericardial teratomas. Though intrapericardial teratomas are usually benign, they can cause severe cardiovascular and respiratory distress in the newborn and in infants owing to the anatomical location [7]. Clinical signs and symptoms depend on tumor size and location. Intrapericardial teratomas have been ⁎ Corresponding author. Department of Pathology, Toronto General Hospital, Toronto, ON, Canada M5G 2C4. Tel.: +1 416 340 3003; fax: +1 416 340 4213. E-mail address: [email protected] (J. Butany). 1054-8807/08/$ – see front matter © 2010 Elsevier Inc. All rights reserved. doi:10.1016/j.carpath.2008.07.003
reported in the fetus, often in the anterior mediastinum, and associated with nonimmunologic hydrops fetalis [3,8]. Postnatal myocardial dysfunction related to poor development of the heart due to mass effects and failure to thrive has also been reported [9,10]. 2. Case presentation A 25-year-old G1P0 woman was referred to a tertiary hospital with a 19-week fetal ultrasound finding of a small, left-sided pleural effusion. The mother was otherwise healthy, but had a history of benzodiazepine use for anxiety Table 1 Common differential diagnoses for fetal masses identified during routine pregnancy ultrasound Vascular • Arteriovenous malformation • Ascending aortic aneurysm Malignancies • Primary – Thymic tumours – Lymphomas – Germ cell tumors • Metastatic
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G.S. Soor et al. / Cardiovascular Pathology 19 (2010) e1–e4
Fig. 3. A section of the teratoma displays neural tissue (N) and spaces lined with ependymal cells (arrow). The presence of hemorrhage (*) can also be noted (stain: hematoxylin and eosin, original magnification ×25).
Fig. 1. Left side of heart-lung dissection bloc showing the explanted teratoma (T) displacing the heart (H) and lungs (P). The liver (L) can also be seen.
attacks and cigarette smoking (10 cigarettes/day). There was no personal or family history of a genetic illness, consanguinity, or recurrent miscarriages. A fetal ultrasound
revealed a 20+2 week fetus with bilateral pleural effusions, ascites, scalp, and nuchal edema, and a large, complex, rightsided chest mass that appeared to be attached to the heart. The left ventricle was dilated, and the heart was displaced laterally. Fetal echocardiography confirmed the presence of a large, nonechogenic mass (Table 1) in the anterior mediastinum compressing the right atrium, left ventricle, and the inferior vena cava, with signs of superior vena cava syndrome (i.e., nuchal thickening and mild pleural effusions). Based on this information and genetic counseling, the patient opted for genetic termination. A diagnosis of intrapericardial teratoma was confirmed at autopsy. 3. Pathology At autopsy, the male fetus weighed 350 g and measured just over 10 in. in length, which is appropriate for 21 weeks of gestation. Generalized edema and congestion, particularly involving the face, chest, and nuchal region, were noted. The pericardial sac was markedly distended due to the intrapericardial tumor mass and a 2.5-ml pericardial effusion. The tumor mass, which measured 2.2 cm in diameter, was adjacent to the inferior vena cava and right atrium, causing distortion and displacement of the entire
Fig. 2. Right side of the heart-lung bloc showing the explanted teratoma (T) which reveals ulcerations on its surface (*). The right side of the heart is visibly compressed (H). The lungs (P) and liver (L) are also seen.
Fig. 4. Cartilage (C) and smooth muscle cells (arrows) can be seen (stain: hematoxylin and eosin, original magnification ×200).
G.S. Soor et al. / Cardiovascular Pathology 19 (2010) e1–e4
Fig. 5. An area of retinal tissue was found within the teratoma (stain: hematoxylin and eosin, original magnification ×400).
heart (Fig. 1), as well as compression of the superior and inferior venae cavae. Because of mass effects, the lungs were compressed and displaced laterally (Fig. 2). The parietal pericardium was normal in appearance and free from the tumor mass. There was no evidence of extrapericardial tumor extension. On histological examination, the mass was adherent to the root of the great vessels, but did not originate from the heart tissue itself. Elements of all three germ layers (endoderm, mesoderm, and ectoderm) were visible. The tumor was composed largely of immature neural tissues, with large spaces lined by ependymal cells (Fig. 3) and focal areas containing cartilaginous (Fig. 4) and retinal tissues (Fig. 5). 4. Discussion Teratomas are neoplasms which may contain derivatives of the endodermal, mesodermal, and neuroectodermal germinal layers. They commonly occur in the midline of the body, involving the testes, ovaries, and sacrococcygeal area, and, less frequently, may occur in the neck or intracranium. Rarely, they occur intrapericardially [2]. With the routine use of prenatal ultrasound examinations, in utero diagnosis is now possible. However, despite advanced imaging techniques, over 80% of prenatal diagnoses occur at 23 weeks' gestational age, indicating that they can evade routine second trimester studies [11]. The rapid growth of these tumors between 20 and 40 weeks' gestational age is a possible explanation for delayed diagnosis [5]. As a result, the tumors may be too small to be detected during routine ultrasound, carried out between 18 and 20 weeks' gestational age. In utero, these masses may cause cardiac compression and tamponade [1]. If the fetus survives in utero, common presenting symptoms in the neonatal period include respiratory distress, cyanosis, and congestive heart failure. One possible form of treatment is in utero pericardiocentesis, which improves cardiac output by relieving pressure on the heart, both in utero and in the postnatal period [7].
e3
However, since they provide only symptomatic relief, postnatal surgical resection remains the treatment of choice in the management of intrapericardial teratomas. Laquay et al. [7] report two cases of intrapericardial teratomas in two neonates, delivered via cesarean section at 28 and 34 weeks' gestational age. The teratomas were excised in the neonatal period. Although the neonates were respirator dependent in the postoperative period, the babies were healthy with no signs of disease recurrence 3 months later. Complete resection can usually be performed with success, but treatment may be limited by several factors including the gestational age and the extent of the damage to neighboring structures. As a result, before providing any definitive treatment, the healthcare team must weigh the need for its removal against the likelihood of fetal demise in the pre- and postnatal period. As the diagnosis of teratomas occurs quite late in pregnancy, other diagnostic tests need to be considered. Two case reports have found elevated levels of alphafetoproteins (AFPs) in neonates diagnosed with intrapericardial tumors [8,12]. Though this may be used as a diagnostic adjunct, elevated levels of AFPs have been associated with other conditions as well, including a variety of congenital abnormalities, placental dysfunction, preeclampsia, and low birth weight. The exact role of AFPs in these various pathologies is not clear [13]. Apart from acquired factors, genetic basis for teratomas has not been determined. Interestingly, an intrapericardial teratoma was found in one identical twin, while its sibling was normal [10]. Further research and development into noninvasive serum markers, enhanced in utero imaging, and genetic causes and/or defects may, however, prove beneficial in the prevention, early diagnosis, and subsequent management of this rare condition. 5. Conclusion Intrapericardial teratomas are indeed rare. Much still remains unknown regarding the etiology and risk factors of developing these tumors. Diagnosis is most commonly made at a gestational age of 23 weeks, but more sensitive imaging and diagnostic techniques are needed to allow for earlier diagnosis. Although pericardiocentesis is a popular form of management, the most definitive treatment still remains postnatal surgical resection. References [1] Uzun O, Wilson DG, Vujanic GM, et al. Cardiac tumours in children. Orphanet J Rare Dis 2007;2:11–25. [2] Elderkin RA, Radford DJ. Primary cardiac tumours in a paediatric population. J Paediatr Child Health 2002;38:173–7. [3] Zhou QC, Fan P, Peng QH, et al. Prenatal echocardiographic differential diagnosis of fetal cardiac tumours. Ultrasound Obstet Gynecol 2003;23:165–71. [4] Wang JN, Yao CT, Chen JS, et al. Cardiac tumours in infants and children. Acta Paediatr Taiwan 2003;44(4):215–9.
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G.S. Soor et al. / Cardiovascular Pathology 19 (2010) e1–e4
[5] Sallee D, Spector ML, van Heeckeren DW, et al. Primary paediatric cardiac tumours: a 17 year experience. Cardiol Young 1999;9 (2):155–62. [6] Joel VJ. Ein teratom auf der arteria pulmonalis innerhalb des herzbeutels. Virchows Arch Pathol Anat 1890;122:381. [7] Laquay N, Ghazouani S, Vaccaroni L, et al. Intrapericardial teratoma in newborn babies. Eur J Cardiothorac Surg 2003;23:642–4. [8] Roy N, Blurton DJ, Azakie A, et al. Immature intrapericardial teratoma in a newborn with elevated alpha-fetoprotein. Ann Thorac Surg 2004;78(1):6–8. [9] Thambi Dorai CR, Muthi Alhagi V, Chee Eng N, et al. Mediastinal teratoma in a neonate. Pediatr Surg Int 1998;14(1-2):84–5.
[10] Levin SE, Harrisburg JR, Govendrageloo K. Intrapericardial teratoma in a twin with severe failure to thrive. Cardiovasc J South Afr 2002;13:237–40. [11] Pachy F, Raiffor C, Mechler C, et al. Intrapericardial teratoma with hydrops leading to in utero demise. Prenat Diagn 2007 [Research letter]. [12] Meuris B, Gewillig M, Meyns B. Extreme levels of alpha-fetoprotein in a newborn with intrapericardial teratoma. Cardiol Young 2006;16:76–7. [13] Mizejewski GJ. Levels of alpha-fetoprotein during pregnancy and early infancy in normal and disease states. Obstet Gynecol Surv 2003;58:804.
Case Report
Prenatal intrapericardial teratomas: diagnosis and management Gursharan S. Soor a , Moyukh O. Chakrabarti a , Adriana Luk a , Jonathan R. Abraham a , Katherine Phillips a , Jagdish Butany a,b,⁎ a
Department of Pathology, Toronto General Hospital/University Health Network, Toronto, Ontario, Canada M5G 2C4 Department of Laboratory Medicine and Pathobiology, Faculty of Medicine, University of Toronto, Toronto, Canada
b
Received 8 August 2007; received in revised form 17 June 2008; accepted 4 July 2008
Abstract We present a 21-week gestation fetus, who upon routine investigation was noted to have a left-sided pleural effusion. The pregnancy was terminated, and at autopsy, a diagnosis of intrapericardial teratoma was confirmed. Primary cardiac tumors in infants and children are rare, and intrapericardial teratomas are even more so. In this brief case report, we review intrapericardial teratomas and present pertinent diagnostic and management options. © 2010 Elsevier Inc. All rights reserved. Keywords: Prenatal intrapericardial mass; Teratoma; Primary cardiac tumors
1. Introduction Primary tumors of the heart in infants and children are rare, having an incidence of 0.0017% to 0.28% [1]. The most common pediatric cardiac tumor is rhabdomyoma, followed by myxoma, fibroma, and teratoma [1–5]. Amongst the intrapericardial tumors, intrapericardial teratomas are second only to rhabdomyomas. This paper focuses on the presentation, diagnosis, and management of teratomas. Cardiac teratomas were first reported in 1890 [6]. They usually arise from the base of the heart, near the root of the aorta and pulmonary trunk, to which they are commonly attached. Their blood supply originates from the vasa vasorum of the aorta and pulmonary arteries, and histology is that of extrapericardial teratomas. Though intrapericardial teratomas are usually benign, they can cause severe cardiovascular and respiratory distress in the newborn and in infants owing to the anatomical location [7]. Clinical signs and symptoms depend on tumor size and location. Intrapericardial teratomas have been ⁎ Corresponding author. Department of Pathology, Toronto General Hospital, Toronto, ON, Canada M5G 2C4. Tel.: +1 416 340 3003; fax: +1 416 340 4213. E-mail address: [email protected] (J. Butany). 1054-8807/08/$ – see front matter © 2010 Elsevier Inc. All rights reserved. doi:10.1016/j.carpath.2008.07.003
reported in the fetus, often in the anterior mediastinum, and associated with nonimmunologic hydrops fetalis [3,8]. Postnatal myocardial dysfunction related to poor development of the heart due to mass effects and failure to thrive has also been reported [9,10]. 2. Case presentation A 25-year-old G1P0 woman was referred to a tertiary hospital with a 19-week fetal ultrasound finding of a small, left-sided pleural effusion. The mother was otherwise healthy, but had a history of benzodiazepine use for anxiety Table 1 Common differential diagnoses for fetal masses identified during routine pregnancy ultrasound Vascular • Arteriovenous malformation • Ascending aortic aneurysm Malignancies • Primary – Thymic tumours – Lymphomas – Germ cell tumors • Metastatic
e2
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Fig. 3. A section of the teratoma displays neural tissue (N) and spaces lined with ependymal cells (arrow). The presence of hemorrhage (*) can also be noted (stain: hematoxylin and eosin, original magnification ×25).
Fig. 1. Left side of heart-lung dissection bloc showing the explanted teratoma (T) displacing the heart (H) and lungs (P). The liver (L) can also be seen.
attacks and cigarette smoking (10 cigarettes/day). There was no personal or family history of a genetic illness, consanguinity, or recurrent miscarriages. A fetal ultrasound
revealed a 20+2 week fetus with bilateral pleural effusions, ascites, scalp, and nuchal edema, and a large, complex, rightsided chest mass that appeared to be attached to the heart. The left ventricle was dilated, and the heart was displaced laterally. Fetal echocardiography confirmed the presence of a large, nonechogenic mass (Table 1) in the anterior mediastinum compressing the right atrium, left ventricle, and the inferior vena cava, with signs of superior vena cava syndrome (i.e., nuchal thickening and mild pleural effusions). Based on this information and genetic counseling, the patient opted for genetic termination. A diagnosis of intrapericardial teratoma was confirmed at autopsy. 3. Pathology At autopsy, the male fetus weighed 350 g and measured just over 10 in. in length, which is appropriate for 21 weeks of gestation. Generalized edema and congestion, particularly involving the face, chest, and nuchal region, were noted. The pericardial sac was markedly distended due to the intrapericardial tumor mass and a 2.5-ml pericardial effusion. The tumor mass, which measured 2.2 cm in diameter, was adjacent to the inferior vena cava and right atrium, causing distortion and displacement of the entire
Fig. 2. Right side of the heart-lung bloc showing the explanted teratoma (T) which reveals ulcerations on its surface (*). The right side of the heart is visibly compressed (H). The lungs (P) and liver (L) are also seen.
Fig. 4. Cartilage (C) and smooth muscle cells (arrows) can be seen (stain: hematoxylin and eosin, original magnification ×200).
G.S. Soor et al. / Cardiovascular Pathology 19 (2010) e1–e4
Fig. 5. An area of retinal tissue was found within the teratoma (stain: hematoxylin and eosin, original magnification ×400).
heart (Fig. 1), as well as compression of the superior and inferior venae cavae. Because of mass effects, the lungs were compressed and displaced laterally (Fig. 2). The parietal pericardium was normal in appearance and free from the tumor mass. There was no evidence of extrapericardial tumor extension. On histological examination, the mass was adherent to the root of the great vessels, but did not originate from the heart tissue itself. Elements of all three germ layers (endoderm, mesoderm, and ectoderm) were visible. The tumor was composed largely of immature neural tissues, with large spaces lined by ependymal cells (Fig. 3) and focal areas containing cartilaginous (Fig. 4) and retinal tissues (Fig. 5). 4. Discussion Teratomas are neoplasms which may contain derivatives of the endodermal, mesodermal, and neuroectodermal germinal layers. They commonly occur in the midline of the body, involving the testes, ovaries, and sacrococcygeal area, and, less frequently, may occur in the neck or intracranium. Rarely, they occur intrapericardially [2]. With the routine use of prenatal ultrasound examinations, in utero diagnosis is now possible. However, despite advanced imaging techniques, over 80% of prenatal diagnoses occur at 23 weeks' gestational age, indicating that they can evade routine second trimester studies [11]. The rapid growth of these tumors between 20 and 40 weeks' gestational age is a possible explanation for delayed diagnosis [5]. As a result, the tumors may be too small to be detected during routine ultrasound, carried out between 18 and 20 weeks' gestational age. In utero, these masses may cause cardiac compression and tamponade [1]. If the fetus survives in utero, common presenting symptoms in the neonatal period include respiratory distress, cyanosis, and congestive heart failure. One possible form of treatment is in utero pericardiocentesis, which improves cardiac output by relieving pressure on the heart, both in utero and in the postnatal period [7].
e3
However, since they provide only symptomatic relief, postnatal surgical resection remains the treatment of choice in the management of intrapericardial teratomas. Laquay et al. [7] report two cases of intrapericardial teratomas in two neonates, delivered via cesarean section at 28 and 34 weeks' gestational age. The teratomas were excised in the neonatal period. Although the neonates were respirator dependent in the postoperative period, the babies were healthy with no signs of disease recurrence 3 months later. Complete resection can usually be performed with success, but treatment may be limited by several factors including the gestational age and the extent of the damage to neighboring structures. As a result, before providing any definitive treatment, the healthcare team must weigh the need for its removal against the likelihood of fetal demise in the pre- and postnatal period. As the diagnosis of teratomas occurs quite late in pregnancy, other diagnostic tests need to be considered. Two case reports have found elevated levels of alphafetoproteins (AFPs) in neonates diagnosed with intrapericardial tumors [8,12]. Though this may be used as a diagnostic adjunct, elevated levels of AFPs have been associated with other conditions as well, including a variety of congenital abnormalities, placental dysfunction, preeclampsia, and low birth weight. The exact role of AFPs in these various pathologies is not clear [13]. Apart from acquired factors, genetic basis for teratomas has not been determined. Interestingly, an intrapericardial teratoma was found in one identical twin, while its sibling was normal [10]. Further research and development into noninvasive serum markers, enhanced in utero imaging, and genetic causes and/or defects may, however, prove beneficial in the prevention, early diagnosis, and subsequent management of this rare condition. 5. Conclusion Intrapericardial teratomas are indeed rare. Much still remains unknown regarding the etiology and risk factors of developing these tumors. Diagnosis is most commonly made at a gestational age of 23 weeks, but more sensitive imaging and diagnostic techniques are needed to allow for earlier diagnosis. Although pericardiocentesis is a popular form of management, the most definitive treatment still remains postnatal surgical resection. References [1] Uzun O, Wilson DG, Vujanic GM, et al. Cardiac tumours in children. Orphanet J Rare Dis 2007;2:11–25. [2] Elderkin RA, Radford DJ. Primary cardiac tumours in a paediatric population. J Paediatr Child Health 2002;38:173–7. [3] Zhou QC, Fan P, Peng QH, et al. Prenatal echocardiographic differential diagnosis of fetal cardiac tumours. Ultrasound Obstet Gynecol 2003;23:165–71. [4] Wang JN, Yao CT, Chen JS, et al. Cardiac tumours in infants and children. Acta Paediatr Taiwan 2003;44(4):215–9.
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G.S. Soor et al. / Cardiovascular Pathology 19 (2010) e1–e4
[5] Sallee D, Spector ML, van Heeckeren DW, et al. Primary paediatric cardiac tumours: a 17 year experience. Cardiol Young 1999;9 (2):155–62. [6] Joel VJ. Ein teratom auf der arteria pulmonalis innerhalb des herzbeutels. Virchows Arch Pathol Anat 1890;122:381. [7] Laquay N, Ghazouani S, Vaccaroni L, et al. Intrapericardial teratoma in newborn babies. Eur J Cardiothorac Surg 2003;23:642–4. [8] Roy N, Blurton DJ, Azakie A, et al. Immature intrapericardial teratoma in a newborn with elevated alpha-fetoprotein. Ann Thorac Surg 2004;78(1):6–8. [9] Thambi Dorai CR, Muthi Alhagi V, Chee Eng N, et al. Mediastinal teratoma in a neonate. Pediatr Surg Int 1998;14(1-2):84–5.
[10] Levin SE, Harrisburg JR, Govendrageloo K. Intrapericardial teratoma in a twin with severe failure to thrive. Cardiovasc J South Afr 2002;13:237–40. [11] Pachy F, Raiffor C, Mechler C, et al. Intrapericardial teratoma with hydrops leading to in utero demise. Prenat Diagn 2007 [Research letter]. [12] Meuris B, Gewillig M, Meyns B. Extreme levels of alpha-fetoprotein in a newborn with intrapericardial teratoma. Cardiol Young 2006;16:76–7. [13] Mizejewski GJ. Levels of alpha-fetoprotein during pregnancy and early infancy in normal and disease states. Obstet Gynecol Surv 2003;58:804.