NORD gratefully acknowledges T. Andrew Burrow, MD, FAAP, FACMG, Assistant Professor of Clinical Pediatrics, Cincinnati Children's Hospital Medical Center, Division of Human Genetics, for assistance in the preparation of this report.
Pentalogy of Cantrell is a rare disorder that is present at birth (congenital). Pentalogy of Cantrell is characterized by a combination of birth defects. These birth defects can potentially involve the breastbone (sternum), the muscle that separates the chest cavity from the abdomen and aids in breathing (diaphragm), the thin membrane that lines the heart (pericardium), the abdominal wall, and the heart. Pentalogy of Cantrell occurs with varying degrees of severity, potentially causing severe, life-threatening complications. Most infants do not develop all of the potential defects, which may be referred to as incomplete pentalogy of Cantrell. When all five defects are present, this is referred to as complete pentalogy of Cantrell. The variability of the disorder from one individual to another can be significant. The exact cause of pentalogy of Cantrell is unknown. Most cases are believed to occur sporadically.
The specific symptoms and severity of pentalogy of Cantrell can vary dramatically from one person to another. Some infants may have mild defects with incomplete expression of the disorder. Other infants may have serious, life-threatening complications. It is important to note that affected individuals will not necessarily have all of the symptoms discussed below. Parents of caregivers of individuals with this condition should talk to their physician and medical team about their specific case, associated symptoms, and overall prognosis.
The most severe expression of pentalogy of Cantrell presents at birth with ectopia cordis and omphalocele. Ectopia cordis is a severe condition in which the heart is completely or partially displaced outside of the thoracic cavity and therefore not protected by the chest wall. Ectopia cordis is frequently, but not always associated with pentalogy of Cantrell.
Omphalocele is an abdominal wall defect in which part of an infant’s intestines and abdominal organs protrude or stick out through the bellybutton. The intestines and organs are covered by a thin membrane or sac. An omphalocele may be small, in which the intestines protrude, or large, in which both intestines and abdominal organs protrude.
In some cases, omphalocele may not be present. Other forms of abdominal wall defects that can occur in pentalogy of Cantrell include wide separation (diastasis) of certain abdominal muscles or, less frequently, the intestines may protrude through a defect to either side of the umbilical cord (gastroschisis).
Abnormalities affecting the sternum can range from complete absence of the cartilage prominence at the end of the sternum (xiphoid) to complete absence of the sternum. In some cases, the sternum may be cleft or abnormally short.
Defects of the thin membranous, fluid-filled sac that lines the heart (pericardium) may occur in pentalogy of Cantrell, specifically in the lower portion where it meets the diaphragm. Affected infants may also have a hole in the diaphragm allowing the contents of the abdomen to protrude into the chest (congenital diaphragmatic hernia).
Infants with pentalogy of Cantrell can have a wide variety of congenital heart defects including a “hole in the heart” between the two lower chambers (ventricles) of the heart (ventricular septal defects), a “hole in the heart” between the two upper chambers (atria) of the heart (atrial septal defects), abnormal location of the heart on the right side of chest instead of the left (dextrocardia), and tetralogy of Fallot, a condition in which four anatomical defects of the heart occur together. (For more information on these heart defects, choose the specific name as your search term in the Rare Disease Database.) Other complex congenital heart abnormalities may also be identified. The type and severity of congenital heart defects can vary from one infant to another.
The various defects potentially associated with pentalogy of Cantrell can cause a wide variety of serious issues including underdevelopment of the lungs, breathing (respiratory) difficulties, embolism (plugged blood vessel), and impaired function of the heart. Infants with pentalogy of Cantrell are at risk of developing widespread internal infection of the abdominal cavity.
Additional anomalies have been reported in some infants with pentalogy of Cantrell. Such anomalies include cleft lip, cleft palate, malformation (dysplasia) of the kidneys, a fluid-filled mass or sac in the head or neck area (cystic hygroma), limb defects (club feet, absent bones in the arms or legs) and birth defects of the brain and spinal cord (neural tube defects).
The exact cause of pentalogy of Cantrell is unknown. Most cases occur randomly for no apparent reason (sporadically). One theory suggests that the symptoms of pentalogy of Cantrell occur due to an abnormality in the development of midline embryonic tissue fourteen to eighteen days after conception. Several familial cases have been reported, and some researchers have suggested that genetic factors may play a role in the development of the disorder. More research is necessary to determine the exact, underlying cause(s) of pentalogy of Cantrell.
Pentalogy of Cantrell affects males and females in equal numbers. The exact prevalence is unknown, but estimated to be 5.5 in 1 million live births. The symptoms of pentalogy of Cantrell are present at birth (congenital).
A diagnosis of pentalogy of Cantrell can often be made before birth (prenatally) sometimes using a fetal ultrasound. An ultrasound is an exam that uses high-frequency sound waves to produce an image of the developing fetus. A fetal ultrasound can detect some of the defects associated with pentalogy of Cantrell. An echocardiography is usually performed to evaluate the extent of the involvement of the heart. An echocardiography is an exam that uses sound waves to produce images of the heart
Magnetic resonance imaging (MRI) may also be performed to assess the degree of certain anomalies such as abdominal wall and pericardial defects. An MRI uses a magnetic field and radio waves to produce cross-sectional images of particular organs and bodily tissues.
The treatment of pentalogy of Cantrell is directed toward the specific symptoms that are apparent in each individual. Surgical intervention for cardiac, diaphragmatic and other associated defects is necessary. Affected infants will require complex medical care and may require surgical intervention. In most cases, pentalogy of Cantrell is fatal without surgical intervention. However, in some cases, the defects are so severe that the individual dies regardless of the medical or surgical interventions received.
The specific treatment strategy will vary from one infant to another based upon various factors, including the size and type of abdominal wall defect, the specific cardiac anomalies that are present, and the particular type of ectopia cordis. Surgical procedures that may be required shortly after birth include repair of an omphalocele. At this time, physicians may also attempt to repair certain other defects including defects of the sternum, diaphragm and the pericardium.
In severe cases, some physicians advocate for a staged repair of the defects associated with pentalogy of Cantrell. The initial operation immediately after birth provides separation of the peritoneal and pericardial cavities, coverage of the midline defect and repair of the omphalocele. After appropriate growth of the thoracic cavity and lungs, the second stage consists of the repair of cardiac defects and return of the heart to the chest. Eventually, usually by age 2 or 3, reconstruction of the lower sternum or epigastrium may be necessary.
Other treatment of pentalogy of Cantrell is symptomatic and supportive.
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Contact for additional information about Pentalogy of Cantrell:
T. Andrew Burrow M.D., FAAP, FACMG
Assistant Professor of Clinical Pediatrics
Cincinnati Children’s Hospital Medical Center
Division of Human Genetics
3333 Burnet Avenue
Cincinnati, Ohio 45229
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Genetic and Rare Disease Information Center. Pentalogy of Cantrell. Last updated: 5/27/2009. Available at: http://rarediseases.info.nih.gov/GARD/Disease.aspx?diseaseID=7359 Accessed Jan 22, 2014.
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