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Prenatal ultrasonographic findings of a cardiac myxoma
Prenatal Ultrasonographic Findings of a Cardiac Myxoma Dario Paladini, MD, Antonio Tartaglione, MD, Michele Vassallo, MD, and Pasquale Martinelli, MD Fetal Cardiology Unit, Department of Gynecology and Obstetrics, University “Federico II,” Naples, Italy
BACKGROUND: Cardiac myxomas have been reported in the neonate but never in the fetus. We present the prenatal diagnosis of such a tumor. CASE: The patient had been referred for fetal echocardiography for a right atrial mass. At 23 weeks’ gestation, the tumor was initially located in the left atrium. Then it crossed the foramen ovale and began moving between the right atrium and ventricle. It appeared as a soft, moderately echogenic mass with a long peduncle attached to the right atrial wall. It was followed until delivery and removed at 20 days of life. CONCLUSION: This case shows that myxomas can also arise in the fetus. Such a diagnosis should be taken into consideration when a soft, echogenic, pedunculated mass is seen within the fetal heart. (Obstet Gynecol 2003;102:1174 – 6. © 2003 by The American College of Obstetricians and Gynecologists.)
Cardiac tumors represent rare anomalies, with a prevalence in patients referred for fetal echocardiography of 0.14%.1 Rhabdomyomas are the most common lesions, followed by teratomas and fibromas, both in fetuses and in neonates.2,3 Myxomas are extremely rare lesions, accounting for less than 1% of cardiac tumors in pediatric patients;4 they have never been described in the fetus. Here, we report the prenatal diagnosis and postnatal course of a right atrial myxoma detected at 23 weeks’ gestation.
CASE A woman, gravida 2, para 1, was referred to our unit for suspected right atrial mass. On fetal echocardiography, atrioventricular connections and outflows were unremarkable. In the left atrium we noted a 4-mm, moderately echogenic nodule located between the septum priAddress reprint requests to: Dario Paladini, University “Federico II” of Naples, Via Cimarosa 69, 80127 Napoli Italy; E-mail: paladini@ unina.it.
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Figure 1. Four-chamber view of the fetal heart at 23 weeks’ gestation. At the beginning of the examination, the mass (arrow) was located in the left atrium, adjacent to the septum primum. RV ⫽ right ventricle; LA ⫽ left atrium. Paladini. Prenatal Diagnosis of Cardiac Myxoma. Obstet Gynecol 2003.
mum and the septal aspect of the mitral annulus (Figure 1). During the examination, the nodule dislodged from its location, passed across the foramen ovale, and started moving between the right atrium and ventricle, following the movements of the tricuspid valve leaflets (Figure 2). The mass had a long stalk originating from the right atrial wall; the length of this stalk allowed for the ample excursion of the mass between the left and right atria and the right ventricle. The echogenicity of the nodule (less than that of a rhabdomyoma), its low consistency (Figure 2), and the atrial wall attachment led to the diagnostic hypothesis of right atrial myxoma. The mass increased in size throughout the second and early third trimester of pregnancy (from 4 ⫻ 4 mm at diagnosis to 9 ⫻ 9 mm at 34 weeks’ gestation) and partially regressed before birth (6 ⫻ 6 mm at 38 weeks). Color and pulsed-wave Doppler imaging did not show right ventricular inflow obstruction at any time. At 40 weeks’ gestation, a male fetus of 3240 g was delivered. An echocardiogram confirmed the prenatal diagnosis. The neonate was then transferred to another institution where, at 20 days of age, it underwent surgery; the tumor was excised via an incision of the right atrium. The pathologist confirmed the ultrasound diagnosis of cardiac myxoma. In particular, the mass showed a smooth surface and measured 5.6 ⫻ 5.3 mm. Histologic examination revealed cells with a myxoid appearance consistent with myxoma, spindle cells, and blood vessels. The neonate is now 12 months old and thriving.
VOL. 102, NO. 5, PART 2, NOVEMBER 2003 © 2003 by The American College of Obstetricians and Gynecologists. Published by Elsevier.
0029-7844/03/$30.00 doi:10.1016/S0029-7844(03)00079-6
Figure 2. Continuing the echocardiography, the tumor (arrows) crossed the foramen ovale and started moving with each cardiac cycle across the tricuspid valve: A) below the annulus during early diastole; B) at the level of the annulus during the end-diastolic phase; C) within the right atrium during systole (note the deformation of the tumor due to the stretching of the stalk). RA ⫽ right atrium; LV ⫽ left ventricle. Paladini. Prenatal Diagnosis of Cardiac Myxoma. Obstet Gynecol 2003.
COMMENT Myxomas arise from the endocardium and often grow into pedunculated masses, most frequently in the atria.5 They are more frequently detected in adults than in children.6 Cardiac tumors represent very rare lesions in prenatal life, and most of them are rhabdomyomas, which account for more than 60% of all fetal tumors.1–3 Other rare tumors involving the heart have been described in the fetus, including hemangiomas7 and fibromas,8 but we could not find any article describing the occurrence of a myxoma in a human fetus in a MEDLINE search (1966 –2002; English language) conducted with the terms “myxoma” and “fetus.” The key ultrasound features leading to the diagnostic hypothesis were the aspect of the mass (low consistency and moderate echogenicity) and the presence of the stalk (Figure 2), because both findings are highly indicative of a myxoma.5 The differential diagnosis is limited to the other cardiac neoplasms. However, rhabdomyomas are more echogenic and firmly attached to myocardial walls, and the other, rarer tumors often appear to be capsulated or cystic.7,8 Another issue to consider is the difficult counseling. The risk of an acute obstruction of the tricuspid valve, due to excessive growth of the mass, or distal embolization, due rupture of the peduncle, was consistent and could not be ruled out until delivery,9 considering also that there are no data regarding the natural history and growth potential of myxomas in fetal life. The occurrence of each of these two events may lead to the development of acute cardiac failure and, possibly, to fetal demise. If preterm delivery may represent a reasonable option in case of a rapidly growing tumor and a viable fetus, little may be done to predict and/or avoid peduncle rupture and the consequent embolization. These scenarios have to be taken into consideration during counseling, should a myxoma be diagnosed pre-
VOL. 102, NO. 5, PART 2, NOVEMBER 2003
natally. Similarly, it is interesting to note that, as already mentioned, the maximum diameter of the mass reached its maximum (9 mm) at 34 weeks’ gestation, to regress slightly thereafter, showing a growth curve similar to that described for rhabdomyomas,10 though in the latter case the regression of the tumor has been documented to progress after birth as well. Should this growth pattern be confirmed in other cases, it may help reassure the parents toward the end of gestation and, at the same time, would advise against an anticipated delivery once 34 weeks have been completed, because of the decreased risk of acute valve obstruction during the last weeks of pregnancy. This represents the first description of a myxoma in the fetus. Its recognition at 23 weeks’ gestation demonstrates that such tumors can arise as early as the second trimester in the fetus, though rarely indeed. Therefore, the diagnosis of myxoma should also be considered in the fetus, should a soft, moderately echogenic, pedunculated atrial tumor be detected at ultrasound.
REFERENCES 1. Holley DG, Martin GR, Brenner JI, Fyfe DA, Huhta JC, Ritter SB, et al. Diagnosis and management of fetal cardiac tumors: A multicenter experience and review of published reports. J Am Coll Cardiol 1995;26:516–20. 2. Geipel A, Krapp M, Germer U, Becker R, Gembruch U. Perinatal diagnosis of cardiac tumors. Ultrasound Obstet Gynecol 2001;17:17–21. 3. Groves AM, Fagg NL, Cook AC, Allan LD. Cardiac tumours in intrauterine life. Arch Dis Child 1992;67: 1189–92. 4. Van der Hauwert LG. Cardiac tumors in infancy and childhood. Br Heart J 1971;33:125–32. 5. Freedom RM, Lee KJ, MacDonald C, Taylor G. Selected
Paladini et al
Prenatal Diagnosis of Cardiac Myxoma
1175
aspects of cardiac tumors in infancy and childhood. Pediatr Cardiol 2000;21:299–316. 6. Burke A, Virmani R. Atlas of tumor pathology. 3rd series, fascicle 16. Washington: AFIP, 1996:1–11; 55– 85. 7. Tseung JJ, Chou MM, Lee YH, Ho SC. In utero diagnosis of cardiac hemangioma. Ultrasound Obstet Gynecol 1999; 13:363–5. 8. Munoz H, Sherer DM, Romero R, Sanchez J, Hernandez I, Diaz C. Prenatal sonographic findings of a large fetal cardiac fibroma. J Ultrasound Med 1995;14:479–81.
Prenatal Diagnosis of Acrania Associated With Amniotic Band Syndrome Verdelia Cincore, MD, Anthanasios P. Ninios, MD, Jacqueline Pavlik, and Chaur-Dong Hsu, MD, MPH Division of Maternal–Fetal Medicine, Department of Obstetrics and Gynecology, University of Nebraska Medical Center, Omaha, Nebraska
BACKGROUND: The amniotic band syndrome is a collection of fetal malformations associated with fibrous bands that appear to entrap or entangle various fetal parts in utero and can affect any organ or system and cause a single or multiple anomalies. The anomaly, acrania, is characterized by partial or complete absence of the calvarium with abnormal brain tissue development. Literature reports association of amniotic band syndrome and acrania postnatally, but not diagnosed prenatally by ultrasound. CASE: A young woman, gravida 1, para 0, presented for an initial prenatal visit at 35 weeks’ gestation and had a first ultrasound that showed a single intrauterine pregnancy at 36 weeks’ gestation. This ultrasound also showed polyhydramnios, absence of or a very small cerebrum with either anencephaly or acrania. A targeted ultrasound scan was performed on the following day, which confirmed acrania in view of the fact that we did see an absence of the flat bones of the skull with a substantial amount of abnormal brain tissue present surrounded by a fetal membrane. The patient was counseled, and labor induction was scheduled with a male infant delivered weighing 1763 g after a spontaneous vaginal delivery. The infant was diagnosed with acrania, given supportive care, and died 11 hours later. CONCLUSION: Diagnosis of cranial bone defects can be established by ultrasound in the first trimester of pregnancy. Address reprint requests to: Chaur-Dong Hsu, MD, MPH, Department of Obstetrics and Gynecology, Westchester Medical Center, New York Medical College, 19 Bradhurst Avenue, Suite 2700, Hawthorne, NY 10532; E-mail: [email protected].
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9. Diazumba SB, Char G. Large calcified right atrial myxoma in a newborn. Rare cause of neonatal death. Br Heart J 1982;48:177–9. 10. Paladini D, Palmieri S, Russo MG, Pacileo G. Cardiac multiple rhabdomyomatosis. Prenatal diagnosis and natural history. Ultrasound Obstet Gynecol 1995;7: 137–8. Received February 5, 2002. Received in revised form September 11, 2002. Accepted September 19, 2002.
The prenatal diagnosis of acrania associated with amniotic bands by transvaginal ultrasound was visualized in the third trimester in this case; therefore, appropriate counseling and treatment options were offered. (Obstet Gynecol 2003;102:1176 – 8. © 2003 by The American College of Obstetricians and Gynecologists.)
The amniotic band syndrome is a collection of fetal malformations associated with fibrous bands that appear to entrap or entangle various fetal parts in utero leading to malformation, deformation, or disunion.1,2 It can affect any organ or system and cause a single or most commonly multiple anomalies.2 The amniotic band syndrome is characteristic in its presentation, although no single child affected with amniotic band syndrome has been reported to demonstrate all of the defects, nor any two infants are affected identically.2 Abnormalities associated with amniotic band syndrome include limb defects and amputations, craniofacial defects, and visceral defects. Acrania is a uniformly lethal entity that is characterized by a partial or complete absence of the calvarium with complete, but abnormal development of brain tissue. Numerous reports of acrania have shown diagnosis in the first trimester by transvaginal ultrasound.3,4 The fetal cranium is not fully calcified before 10 –11 weeks; therefore, a first-trimester diagnosis must be made with caution. Not much is known about the etiology of acrania because the occurrence is so rare. Difficult alternatives are presented with the diagnosis of a birth defect caused by amniotic band syndrome. When the brain is involved, as with acrania, the prognosis is invariably lethal. Prenatal diagnosis of acrania secondary to amniotic band syndrome has not previously been reported; therefore, we present this case diagnosed by transvaginal ultrasound. Advantages of early detection include lower maternal risk, and for women with increased risk, more time to consider their options.
VOL. 102, NO. 5, PART 2, NOVEMBER 2003 © 2003 by The American College of Obstetricians and Gynecologists. Published by Elsevier.
0029-7844/03/$30.00 doi:10.1016/S0029-7844(03)00118-2
BACKGROUND: Cardiac myxomas have been reported in the neonate but never in the fetus. We present the prenatal diagnosis of such a tumor. CASE: The patient had been referred for fetal echocardiography for a right atrial mass. At 23 weeks’ gestation, the tumor was initially located in the left atrium. Then it crossed the foramen ovale and began moving between the right atrium and ventricle. It appeared as a soft, moderately echogenic mass with a long peduncle attached to the right atrial wall. It was followed until delivery and removed at 20 days of life. CONCLUSION: This case shows that myxomas can also arise in the fetus. Such a diagnosis should be taken into consideration when a soft, echogenic, pedunculated mass is seen within the fetal heart. (Obstet Gynecol 2003;102:1174 – 6. © 2003 by The American College of Obstetricians and Gynecologists.)
Cardiac tumors represent rare anomalies, with a prevalence in patients referred for fetal echocardiography of 0.14%.1 Rhabdomyomas are the most common lesions, followed by teratomas and fibromas, both in fetuses and in neonates.2,3 Myxomas are extremely rare lesions, accounting for less than 1% of cardiac tumors in pediatric patients;4 they have never been described in the fetus. Here, we report the prenatal diagnosis and postnatal course of a right atrial myxoma detected at 23 weeks’ gestation.
CASE A woman, gravida 2, para 1, was referred to our unit for suspected right atrial mass. On fetal echocardiography, atrioventricular connections and outflows were unremarkable. In the left atrium we noted a 4-mm, moderately echogenic nodule located between the septum priAddress reprint requests to: Dario Paladini, University “Federico II” of Naples, Via Cimarosa 69, 80127 Napoli Italy; E-mail: paladini@ unina.it.
1174
Figure 1. Four-chamber view of the fetal heart at 23 weeks’ gestation. At the beginning of the examination, the mass (arrow) was located in the left atrium, adjacent to the septum primum. RV ⫽ right ventricle; LA ⫽ left atrium. Paladini. Prenatal Diagnosis of Cardiac Myxoma. Obstet Gynecol 2003.
mum and the septal aspect of the mitral annulus (Figure 1). During the examination, the nodule dislodged from its location, passed across the foramen ovale, and started moving between the right atrium and ventricle, following the movements of the tricuspid valve leaflets (Figure 2). The mass had a long stalk originating from the right atrial wall; the length of this stalk allowed for the ample excursion of the mass between the left and right atria and the right ventricle. The echogenicity of the nodule (less than that of a rhabdomyoma), its low consistency (Figure 2), and the atrial wall attachment led to the diagnostic hypothesis of right atrial myxoma. The mass increased in size throughout the second and early third trimester of pregnancy (from 4 ⫻ 4 mm at diagnosis to 9 ⫻ 9 mm at 34 weeks’ gestation) and partially regressed before birth (6 ⫻ 6 mm at 38 weeks). Color and pulsed-wave Doppler imaging did not show right ventricular inflow obstruction at any time. At 40 weeks’ gestation, a male fetus of 3240 g was delivered. An echocardiogram confirmed the prenatal diagnosis. The neonate was then transferred to another institution where, at 20 days of age, it underwent surgery; the tumor was excised via an incision of the right atrium. The pathologist confirmed the ultrasound diagnosis of cardiac myxoma. In particular, the mass showed a smooth surface and measured 5.6 ⫻ 5.3 mm. Histologic examination revealed cells with a myxoid appearance consistent with myxoma, spindle cells, and blood vessels. The neonate is now 12 months old and thriving.
VOL. 102, NO. 5, PART 2, NOVEMBER 2003 © 2003 by The American College of Obstetricians and Gynecologists. Published by Elsevier.
0029-7844/03/$30.00 doi:10.1016/S0029-7844(03)00079-6
Figure 2. Continuing the echocardiography, the tumor (arrows) crossed the foramen ovale and started moving with each cardiac cycle across the tricuspid valve: A) below the annulus during early diastole; B) at the level of the annulus during the end-diastolic phase; C) within the right atrium during systole (note the deformation of the tumor due to the stretching of the stalk). RA ⫽ right atrium; LV ⫽ left ventricle. Paladini. Prenatal Diagnosis of Cardiac Myxoma. Obstet Gynecol 2003.
COMMENT Myxomas arise from the endocardium and often grow into pedunculated masses, most frequently in the atria.5 They are more frequently detected in adults than in children.6 Cardiac tumors represent very rare lesions in prenatal life, and most of them are rhabdomyomas, which account for more than 60% of all fetal tumors.1–3 Other rare tumors involving the heart have been described in the fetus, including hemangiomas7 and fibromas,8 but we could not find any article describing the occurrence of a myxoma in a human fetus in a MEDLINE search (1966 –2002; English language) conducted with the terms “myxoma” and “fetus.” The key ultrasound features leading to the diagnostic hypothesis were the aspect of the mass (low consistency and moderate echogenicity) and the presence of the stalk (Figure 2), because both findings are highly indicative of a myxoma.5 The differential diagnosis is limited to the other cardiac neoplasms. However, rhabdomyomas are more echogenic and firmly attached to myocardial walls, and the other, rarer tumors often appear to be capsulated or cystic.7,8 Another issue to consider is the difficult counseling. The risk of an acute obstruction of the tricuspid valve, due to excessive growth of the mass, or distal embolization, due rupture of the peduncle, was consistent and could not be ruled out until delivery,9 considering also that there are no data regarding the natural history and growth potential of myxomas in fetal life. The occurrence of each of these two events may lead to the development of acute cardiac failure and, possibly, to fetal demise. If preterm delivery may represent a reasonable option in case of a rapidly growing tumor and a viable fetus, little may be done to predict and/or avoid peduncle rupture and the consequent embolization. These scenarios have to be taken into consideration during counseling, should a myxoma be diagnosed pre-
VOL. 102, NO. 5, PART 2, NOVEMBER 2003
natally. Similarly, it is interesting to note that, as already mentioned, the maximum diameter of the mass reached its maximum (9 mm) at 34 weeks’ gestation, to regress slightly thereafter, showing a growth curve similar to that described for rhabdomyomas,10 though in the latter case the regression of the tumor has been documented to progress after birth as well. Should this growth pattern be confirmed in other cases, it may help reassure the parents toward the end of gestation and, at the same time, would advise against an anticipated delivery once 34 weeks have been completed, because of the decreased risk of acute valve obstruction during the last weeks of pregnancy. This represents the first description of a myxoma in the fetus. Its recognition at 23 weeks’ gestation demonstrates that such tumors can arise as early as the second trimester in the fetus, though rarely indeed. Therefore, the diagnosis of myxoma should also be considered in the fetus, should a soft, moderately echogenic, pedunculated atrial tumor be detected at ultrasound.
REFERENCES 1. Holley DG, Martin GR, Brenner JI, Fyfe DA, Huhta JC, Ritter SB, et al. Diagnosis and management of fetal cardiac tumors: A multicenter experience and review of published reports. J Am Coll Cardiol 1995;26:516–20. 2. Geipel A, Krapp M, Germer U, Becker R, Gembruch U. Perinatal diagnosis of cardiac tumors. Ultrasound Obstet Gynecol 2001;17:17–21. 3. Groves AM, Fagg NL, Cook AC, Allan LD. Cardiac tumours in intrauterine life. Arch Dis Child 1992;67: 1189–92. 4. Van der Hauwert LG. Cardiac tumors in infancy and childhood. Br Heart J 1971;33:125–32. 5. Freedom RM, Lee KJ, MacDonald C, Taylor G. Selected
Paladini et al
Prenatal Diagnosis of Cardiac Myxoma
1175
aspects of cardiac tumors in infancy and childhood. Pediatr Cardiol 2000;21:299–316. 6. Burke A, Virmani R. Atlas of tumor pathology. 3rd series, fascicle 16. Washington: AFIP, 1996:1–11; 55– 85. 7. Tseung JJ, Chou MM, Lee YH, Ho SC. In utero diagnosis of cardiac hemangioma. Ultrasound Obstet Gynecol 1999; 13:363–5. 8. Munoz H, Sherer DM, Romero R, Sanchez J, Hernandez I, Diaz C. Prenatal sonographic findings of a large fetal cardiac fibroma. J Ultrasound Med 1995;14:479–81.
Prenatal Diagnosis of Acrania Associated With Amniotic Band Syndrome Verdelia Cincore, MD, Anthanasios P. Ninios, MD, Jacqueline Pavlik, and Chaur-Dong Hsu, MD, MPH Division of Maternal–Fetal Medicine, Department of Obstetrics and Gynecology, University of Nebraska Medical Center, Omaha, Nebraska
BACKGROUND: The amniotic band syndrome is a collection of fetal malformations associated with fibrous bands that appear to entrap or entangle various fetal parts in utero and can affect any organ or system and cause a single or multiple anomalies. The anomaly, acrania, is characterized by partial or complete absence of the calvarium with abnormal brain tissue development. Literature reports association of amniotic band syndrome and acrania postnatally, but not diagnosed prenatally by ultrasound. CASE: A young woman, gravida 1, para 0, presented for an initial prenatal visit at 35 weeks’ gestation and had a first ultrasound that showed a single intrauterine pregnancy at 36 weeks’ gestation. This ultrasound also showed polyhydramnios, absence of or a very small cerebrum with either anencephaly or acrania. A targeted ultrasound scan was performed on the following day, which confirmed acrania in view of the fact that we did see an absence of the flat bones of the skull with a substantial amount of abnormal brain tissue present surrounded by a fetal membrane. The patient was counseled, and labor induction was scheduled with a male infant delivered weighing 1763 g after a spontaneous vaginal delivery. The infant was diagnosed with acrania, given supportive care, and died 11 hours later. CONCLUSION: Diagnosis of cranial bone defects can be established by ultrasound in the first trimester of pregnancy. Address reprint requests to: Chaur-Dong Hsu, MD, MPH, Department of Obstetrics and Gynecology, Westchester Medical Center, New York Medical College, 19 Bradhurst Avenue, Suite 2700, Hawthorne, NY 10532; E-mail: [email protected].
1176
9. Diazumba SB, Char G. Large calcified right atrial myxoma in a newborn. Rare cause of neonatal death. Br Heart J 1982;48:177–9. 10. Paladini D, Palmieri S, Russo MG, Pacileo G. Cardiac multiple rhabdomyomatosis. Prenatal diagnosis and natural history. Ultrasound Obstet Gynecol 1995;7: 137–8. Received February 5, 2002. Received in revised form September 11, 2002. Accepted September 19, 2002.
The prenatal diagnosis of acrania associated with amniotic bands by transvaginal ultrasound was visualized in the third trimester in this case; therefore, appropriate counseling and treatment options were offered. (Obstet Gynecol 2003;102:1176 – 8. © 2003 by The American College of Obstetricians and Gynecologists.)
The amniotic band syndrome is a collection of fetal malformations associated with fibrous bands that appear to entrap or entangle various fetal parts in utero leading to malformation, deformation, or disunion.1,2 It can affect any organ or system and cause a single or most commonly multiple anomalies.2 The amniotic band syndrome is characteristic in its presentation, although no single child affected with amniotic band syndrome has been reported to demonstrate all of the defects, nor any two infants are affected identically.2 Abnormalities associated with amniotic band syndrome include limb defects and amputations, craniofacial defects, and visceral defects. Acrania is a uniformly lethal entity that is characterized by a partial or complete absence of the calvarium with complete, but abnormal development of brain tissue. Numerous reports of acrania have shown diagnosis in the first trimester by transvaginal ultrasound.3,4 The fetal cranium is not fully calcified before 10 –11 weeks; therefore, a first-trimester diagnosis must be made with caution. Not much is known about the etiology of acrania because the occurrence is so rare. Difficult alternatives are presented with the diagnosis of a birth defect caused by amniotic band syndrome. When the brain is involved, as with acrania, the prognosis is invariably lethal. Prenatal diagnosis of acrania secondary to amniotic band syndrome has not previously been reported; therefore, we present this case diagnosed by transvaginal ultrasound. Advantages of early detection include lower maternal risk, and for women with increased risk, more time to consider their options.
VOL. 102, NO. 5, PART 2, NOVEMBER 2003 © 2003 by The American College of Obstetricians and Gynecologists. Published by Elsevier.
0029-7844/03/$30.00 doi:10.1016/S0029-7844(03)00118-2