Pentalogy of Cantrell
|Pentalogy of Cantrell|
Its prevalence is less than 1 in 5,000,000.
It was characterized in 1958.
The syndrome has five characteristic findings:
- Anterior diaphragmatic hernia
- Sternal cleft with or without ectopia cordis
- Diaphragmatic pericardium defects (no diaphragmatic pericardium)
- Intracardiac defect: ventricular septal defect, diverticulum of the left ventricle, Tetralogy of Fallot
A diagnosis of pentalogy of Cantrell can often be made before birth (prenatally) sometimes using a fetal ultrasound to 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.
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.
St. Rose de Viterbo, T.O.S.F. (c. 1233 – March 6, 1251), a woman born in Viterbo and a famous saint of the Catholic Church, died of pentalogy of Cantrell. It was long believed that Rose had died from tuberculosis, but researchers examining her remains in 2010 concluded her death was due to this heart condition. While September 4 is her original feast day, being the date of the translation of her relics to the Monastery of St. Damian and the date on which her feast is still celebrated in Viterbo and by the Franciscans (the Third Order of which Rose had been admitted), her feast in the Roman calendar has since been moved to the date she died of this condition.
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