Pentalogy of Cantrell

Pentalogy of Cantrell
Specialty Medical genetics Edit this on Wikidata

Pentalogy of Cantrell (or thoraco-abdominal syndrome) is a rare[1] syndrome that causes defects involving the diaphragm, abdominal wall, pericardium, heart and lower sternum.

Its prevalence is less than 1 in 5,000,000.[2]

It was characterized in 1958.[3]

A locus at Xq25-26 has been described.[4]

Presentation

The syndrome has five characteristic findings:[5]

Diagnosis

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.

Treatment

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.

Notable cases

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.[6] 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.

References

  1. ↑ Katranci AO, Görk AS, Rizalar R, et al. (1998). "Pentalogy of Cantrell". Indian J Pediatr. 65 (1): 149–53. doi:10.1007/BF02849710. PMID 10771959.
  2. ↑ RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Pentalogy of Cantrell". www.orpha.net. Retrieved 2017-07-29.
  3. ↑ CANTRELL JR, HALLER JA, RAVITCH MM (November 1958). "A syndrome of congenital defects involving the abdominal wall, sternum, diaphragm, pericardium, and heart". Surg Gynecol Obstet. 107 (5): 602–14. PMID 13592660.
  4. ↑ Parvari R, Weinstein Y, Ehrlich S, Steinitz M, Carmi R (February 1994). "Linkage localization of the thoraco-abdominal syndrome (TAS) gene to Xq25-26". Am. J. Med. Genet. 49 (4): 431–4. doi:10.1002/ajmg.1320490416. PMID 7909197.
  5. ↑ RISERVATI, INSERM US14 -- TUTTI I DIRITTI. "Orphanet: Pentalogia di Cantrell". www.orpha.net (in Italian). Retrieved 2017-07-29.
  6. ↑ D'Anastasio, Ruggero; Silvestro, Gianpaolo Di; Versacci, Paolo; Capasso, Luigi; Marino, Bruno (2010-06-19). "The Heart of Santa Rosa". The Lancet. 375 (9732). doi:10.1016/S0140-6736(09)60729-7. ISSN 0140-6736.
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