Pentalogía de Cantrell: reporte de un caso de padres consanguíneos
Palabras clave:
ectopia cordis, anomalías congénitas, patrón de herencia, tomografía computadorizada de emisión, imagen por resonancia magnética, hernia diafragmática, pericardio
Resumen
La pentalogía de Cantrell es un síndrome que se caracteriza por cinco anomalías: un defecto de la pared abdominal en la línea media, un defecto esternal inferior, un defecto en el diafragma anterior, un defecto pericárdico diafragmático y anormalidades congénitas del corazón.Se presenta con una prevalencia de 1 en 65.000 nacidos vivos y con una baja tasa de supervivencia, la cual depende de la presencia de todos los defectos inherentes a este síndrome o la gravedad de las anomalías cardiacas.
El diagnóstico puede hacerse por ecografía obstétrica en el primer trimestre. Para la atención posnatal, las imágenes por tomografía computadorizada y la resonancia magnética se recomiendan para definir claramente la extensión del defecto y para la corrección quirúrgica. Se reporta un caso producto de padres consanguíneos.
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Referencias bibliográficas
1. Cantrell JR, Haller JA, Ravitsh MM. A syndrome of congenital defects involving the abdominal wall, sternum, diaphragm, pericardium and heart. Surg Gynecol Obstet. 1958;107:602-14.
2. Engum SA. Embryology, sternal clefts, ectopia cordis, and Cantrell's pentalogy. Semin Pediatr Surg. 2008;17:154-60.
3. Toyama WM. Combined congenital defects of the anterior abdominal wall, sternum, diaphragm, pericardium and heart: a case report and review of the syndrome. Pediatrics. 1972;50:778-86.
4. Carmi R, Meizner I, Katz M. Familial congenital diaphragmatic defect and associated midline anomalies: Further evidence for an X-linked midline gene? Am J Med Genet. 1990;36:313-5.
5. Carmi R, Parvari R, Weinstein J. Mapping of an X-linked gene for ventral midline defects (the TAS gene). Birth Defects Orig Artic Ser. 1996;30:179-87.
6. Parvari R, Carmi R, Weissenbach J, Pilia G, Mumm S, Weinstein Y. Refined genetic mapping of X-linked thoracoabdominal syndrome. Am J Med Genet. 1996;61:401-2.
7. Pachajoa H. Pentalogía de Cantrell en un recién nacido expuesto en útero a misoprostol. Rev Chil Obstet Ginecol. 2010;75:47-9.
8. van Allen MI, Curry C, Walden CE, Gallagher L, Patten RM. Limb-body wall complex: II. Limb and spine defects. Am J Med Genet. 1987;28:549-65.
9. Carmi R, Boughman JA. Pentalogy of Cantrell and associated midline anomalies: A possible ventral midline developmental field. Am J Med Genet. 1992;42:90-5.
10. Mitsukawa N, Yasunaga H, Tananari Y. Chest wall reconstruction in a patient with Cantrell syndrome. J Plast Reconstr Aesthet Surg. 2007;62:814-8.
11. Vázquez-Jiménez JF, Muhler EG, Daebritz S, Keutel J, Nishigaki K, Huegel W, et al. Cantrell's syndrome: a challenger to the surgeon. Ann Thorac Surg. 1998;65:1178-85.
12. Martin RA, Cunniff C, Erickson L, Jones KL. Pentalogy of Cantrell and ectopis cordis, a familial developmental field comples. Am J Med Genet. 1992;42:839-41.
13. Hornberger LK, Colan SD, Lock JE, Wessel DL, Mayer JE Jr. Outcome of patients with ectopia cordis and significant intracardiac defects. Circulation. 1996;9(Suppl.9):II32-7.
14. Wheeler DS, St Louis JD. Pentalogy of Cantrell associated with hypoplastic left heart syndrome. Pediatr Cardiol. 2007;28:311-3.
15. Pampoli A, Noccioli B, Pampaloni F. Ectopia cardis and Cantrell´s pentalogy: Personal experience and consideration of the surgical treatment. Pediatr Med Chir. 1997;19:59-64.
16. van Hoorn JH, Moonen RM, Huysentruyt CJ, van Heurn LW, Offermans JP, Mulder AL. Pentalogy of Cantrell: Two patients and a review to determine prognostic factors for optimal approach. Eur J Pediatr. 2008;167:29-35.
17. Yao-Yuan H, Chien-Chung L, Chi-Chen C. Prenatal sonographic diagnosis of Cantrell´s pentalogy with cystic hygroma in the first trimester. J Clin Ultrasound. 1998;26:409-12.
18. Bennett TL, Burlbaw J, Drake CK. Diagnosis of ectopic cordis at 12 weeks gestation using transabdominal ultrasonography with color flow Doppler. J Ultrasound Med. 1991;10:695-6.
19. Ghidini A, Sirtori M, Romero E. Prenatal diagnosis of pentalogy of Cantrell. J Ultrasound Med. 1988;7:567-72.
20. Cordoni G, Schlindwein S, Granero L, Gonçalves LF. Pentalogy of Cantrell, early diagnosis a 9 weeks. En: Buyse ML, editor. Birth Defects Encyclopedia. Cambridge: Blackwell Scientific Publications; 1999.
21. Oka T, Shiraishi I, Iwasaki N, Itoi T, Hamaoka K. Usefulness of helical CT angiography and RMI in the diagnosis and treatment of Pentalogy of Cantrell. J Pediatr. 2003;142:83-4.
22. Emanuel PG, García GI, Angtuaco TL. Prenatal detection of anterior abdominal wall defects with US. Radiopgraphics. 1995;15:517-30.
23. Chopra S, Kalpdev A, Suri V, Aggarwal N, Rohilla M. Complete ectopia cordis with anencephaly: A case report. J Clin Ultrasound. 2010;38:212-4.
2. Engum SA. Embryology, sternal clefts, ectopia cordis, and Cantrell's pentalogy. Semin Pediatr Surg. 2008;17:154-60.
3. Toyama WM. Combined congenital defects of the anterior abdominal wall, sternum, diaphragm, pericardium and heart: a case report and review of the syndrome. Pediatrics. 1972;50:778-86.
4. Carmi R, Meizner I, Katz M. Familial congenital diaphragmatic defect and associated midline anomalies: Further evidence for an X-linked midline gene? Am J Med Genet. 1990;36:313-5.
5. Carmi R, Parvari R, Weinstein J. Mapping of an X-linked gene for ventral midline defects (the TAS gene). Birth Defects Orig Artic Ser. 1996;30:179-87.
6. Parvari R, Carmi R, Weissenbach J, Pilia G, Mumm S, Weinstein Y. Refined genetic mapping of X-linked thoracoabdominal syndrome. Am J Med Genet. 1996;61:401-2.
7. Pachajoa H. Pentalogía de Cantrell en un recién nacido expuesto en útero a misoprostol. Rev Chil Obstet Ginecol. 2010;75:47-9.
8. van Allen MI, Curry C, Walden CE, Gallagher L, Patten RM. Limb-body wall complex: II. Limb and spine defects. Am J Med Genet. 1987;28:549-65.
9. Carmi R, Boughman JA. Pentalogy of Cantrell and associated midline anomalies: A possible ventral midline developmental field. Am J Med Genet. 1992;42:90-5.
10. Mitsukawa N, Yasunaga H, Tananari Y. Chest wall reconstruction in a patient with Cantrell syndrome. J Plast Reconstr Aesthet Surg. 2007;62:814-8.
11. Vázquez-Jiménez JF, Muhler EG, Daebritz S, Keutel J, Nishigaki K, Huegel W, et al. Cantrell's syndrome: a challenger to the surgeon. Ann Thorac Surg. 1998;65:1178-85.
12. Martin RA, Cunniff C, Erickson L, Jones KL. Pentalogy of Cantrell and ectopis cordis, a familial developmental field comples. Am J Med Genet. 1992;42:839-41.
13. Hornberger LK, Colan SD, Lock JE, Wessel DL, Mayer JE Jr. Outcome of patients with ectopia cordis and significant intracardiac defects. Circulation. 1996;9(Suppl.9):II32-7.
14. Wheeler DS, St Louis JD. Pentalogy of Cantrell associated with hypoplastic left heart syndrome. Pediatr Cardiol. 2007;28:311-3.
15. Pampoli A, Noccioli B, Pampaloni F. Ectopia cardis and Cantrell´s pentalogy: Personal experience and consideration of the surgical treatment. Pediatr Med Chir. 1997;19:59-64.
16. van Hoorn JH, Moonen RM, Huysentruyt CJ, van Heurn LW, Offermans JP, Mulder AL. Pentalogy of Cantrell: Two patients and a review to determine prognostic factors for optimal approach. Eur J Pediatr. 2008;167:29-35.
17. Yao-Yuan H, Chien-Chung L, Chi-Chen C. Prenatal sonographic diagnosis of Cantrell´s pentalogy with cystic hygroma in the first trimester. J Clin Ultrasound. 1998;26:409-12.
18. Bennett TL, Burlbaw J, Drake CK. Diagnosis of ectopic cordis at 12 weeks gestation using transabdominal ultrasonography with color flow Doppler. J Ultrasound Med. 1991;10:695-6.
19. Ghidini A, Sirtori M, Romero E. Prenatal diagnosis of pentalogy of Cantrell. J Ultrasound Med. 1988;7:567-72.
20. Cordoni G, Schlindwein S, Granero L, Gonçalves LF. Pentalogy of Cantrell, early diagnosis a 9 weeks. En: Buyse ML, editor. Birth Defects Encyclopedia. Cambridge: Blackwell Scientific Publications; 1999.
21. Oka T, Shiraishi I, Iwasaki N, Itoi T, Hamaoka K. Usefulness of helical CT angiography and RMI in the diagnosis and treatment of Pentalogy of Cantrell. J Pediatr. 2003;142:83-4.
22. Emanuel PG, García GI, Angtuaco TL. Prenatal detection of anterior abdominal wall defects with US. Radiopgraphics. 1995;15:517-30.
23. Chopra S, Kalpdev A, Suri V, Aggarwal N, Rohilla M. Complete ectopia cordis with anencephaly: A case report. J Clin Ultrasound. 2010;38:212-4.
Cómo citar
1.
Pachajoa H, Barragán A, Torres J, Isaza C. Pentalogía de Cantrell: reporte de un caso de padres consanguíneos. biomedica [Internet]. 1 de diciembre de 2010 [citado 16 de abril de 2024];30(4):473-7. Disponible en: https://revistabiomedica.org/index.php/biomedica/article/view/284
Publicado
2010-12-01
Número
Sección
Presentación de caso
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