Pentalogy of Cantrell is a rare congenital anomaly associated with midline defects involving the chest, sternum, heart, diaphragm, and abdominal wall. This may include ectopia cordis, diaphragmatic hernia, and omphalocele.
Pentalogy of Cantrell is a rare congenital anomaly associated with midline defects involving the chest, sternum, heart, diaphragm, and abdominal wall. This may include ectopia cordis, diaphragmatic hernia, and omphalocele. The case presented here is somewhat unusual due to the early diagnosis. Others, however, have reported cases of ectopia cordis diagnosed with late first or early second trimester vaginal sonography (1). The condition is thought to be a sporadic congenital anomaly, although there is a report of a family where three brothers were born consecutively with this abnormality (2).
Survival beyond the perinatal period is unusual for neonates born with pentalogy of Cantrell. Surgical correction of omphalocele is usually performed in the standard fashion, whereas a number of procedures have been described to correct ectopia cordis. Most authors report single cases, or a small series of cases, where surgical correction is undertaken(3-5). One team reported on a successful correction of pentalogy of Cantrell associated with tetralogy of Fallot using a 2-stage procedure, performed soon after birth and completed at 6 years of age (6). Most neonates with severe midline defects die, but it appears that survival is higher in the absence of significant extracardiac defects (7).
A 38-year-old white female presented for prenatal care and underwent transvaginal sonography for determination of estimated gestational age. By a certain last menstrual period she was 10 3/7 weeks gestational age. She denied bleeding, uterine cramping, or other complaints. Her obstetric history consisted of three prior first-trimester pregnancy losses of unknown etiology. The patient denied significant medical problems, as well as any known history of cardiac or other congenital anomalies in her family. She reported taking no medications, with no medication allergies.
During transvaginal ultrasound using a 7.5 MHz probe, a single live fetus was noted with a crown rump length equivalent to 10 4/7 weeks gestational age. The placenta and amniotic fluid were grossly normal. An unusual finding was noted at the level of the sternum, as seen in image 1.
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A coronal view was obtained, with the heart noted next to the right arm, beating at approximately 160 beats per minute.
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Other images (not shown) revealed an omphalocele. The patient elected to terminate the pregnancy at 13-weeks gestational age, when subsequent targeted sonography at a nearby perinatology center office revealed identical findings. Placental pathology revealed an absence of molar degeneration. An autopsy was not possible.
The patient in this case was presumptively diagnosed with Cantrell's pentalogy after first-trimester transvaginal ultrasound revealed ectopia cordis and an omphalocele. The extrathoracic heart was obvious on transvaginal scan in the sagittal plane. A small omphalocele was identified. The patient was not noted to have a pericardial effusion, although one team reported that finding an omphalocele with a pericardial effusion should prompt the examiner to look for other evidence of pentalogy of Cantrell(8).
1. Achiron R, Rotstein Z, Lipitz S, Mashiach S, Hegesh J. First-trimester diagnosis of fetal congenital heart disease by transvaginal ultrasonography. Obstet Gynecol 84(1):69-72, 1994.
2. Martin RA, Cunniff C, Erickson L, Jones KL. Pentalogy of Cantrell and ectopia cordis, a familial developmental field complex. Am J Med Genet 42(6):839-41, 1992.
3. Abdallah HI, Marks LA, Balsara RK, Davis DA, Russo PA. Staged repair of pentalogy of Cantrell with tetralogy of Fallot. Ann Thorac Surg 56(4):979-80, 1993.
4. Jona JZ. The surgical approach for reconstruction of the sternal and epigastric defects in children with Cantrell's deformity. J Pediatr Surg. 26(6):702-6, 1991.
5. Amato JJ, Zelen J, Talwalkar NG. Single-stage repair of thoracic ectopia cordis. Ann Thorac Surg 59(2):518-20, 1995.
6. Morello M,Quaini E, Nenov G, PomIe G. Extrathoracic ectopia cordis. Case report. J Cardiovasc Surg (Torino). 35(6):511-5, 1994.
7. Hornberger LK, Colan SD, Lock JE, Wessel DL, Mayer JE Jr. Outcome of patients with ectopia cordis and significant intracardiac defects. Circulation 94 (9 Suppl):II32-7, 1996.
8. Siles C, Boyd PA, Manning N, Tsang T, Chamberlain P. Omphalocele and pericardial effusion: possible sonographic markers of the pentalogy of Cantrell or variants. Obstet Gynecol 87(5 Pt 2):840-2, 1996.
About the Author:
D. Ashley Hill, M.D. is the Associate Director of the Department of Obstetrics and Gynecology, Florida Hospital Family Practice Residency, Orlando, Florida USA. He is a member and Fellow of the American College of Obstetricians and Gynecologists (ACOG), Washington, D.C. USA. He is also a member of The American Association of Gynecologic Laparoscopists (AAGL), Santa Fe Springs, California USA, the American Medical Association, Chicago, Illinois USA, and Alpha Omega Alpha.
His practice consists of a full-time academic appointment at the Florida Hospital Family Practice residency, and a private practice called Loch Haven Ob/Gyn Group, with three physician partners and two nurse practitioners. Special interests include gynecologic surgery, vaginal ultrasound, recurrent pregnancy loss, and pelvic pain. Dr. Hill has published both on and off the Web. He is married to Susan Hill, M.D., who practices Internal Medicine in the Orlando, Florida area.
For more information about the preceding ultrasound case, please contact:
D. Ashley Hill, M.D.
Department of Obstetrics and Gynecology
Florida Hospital Family Practice Residency
500 East Rollins Avenue, Suite 201
Orlando, Florida 32803 USA
Telephone: (407) 897-1668
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