Pentalogy of Cantrell

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Pentalogy of Cantrell
MRI of a fetus with pentalogy of Cantrell.jpg
MRI in pregnancy in a case of pentalogy of Cantrell, showing ectopia cordis (*), partial herniation of the liver (arrow), and a small thoracic cavity (t)
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Pentalogy of Cantrell (or thoraco-abdominal syndrome) is an extremely rare [1] congenital syndrome that causes defects involving the diaphragm, abdominal wall, pericardium, heart and lower sternum.

Contents

Presentation

There are five characteristic findings in pentalogy of Cantrell:

  1. an abdominal wall defect,
  2. lower sternal defect,
  3. congenital heart malformations,
  4. absence of the diaphragmatic pericardium,
  5. and an anterior diaphragmatic defect. [2]

Abdominal wall defects in pentalogy of Cantrell occur above the umbilicus (supraumbilical) and in the midline, and have a wide range of presentations. Diastasis recti, hernias, and omphalocele have all been described in conjunction with the pentalogy. [2]

Sternal defects too have a range of presentations, from absence of the xiphoid process to shortened or cleft sternum. If the sternal defect is large enough, the neonate may have ectopia cordis, in which the heart is located outside of the thorax. [2]

Many congenital heart malformations have been described in conjunction with pentalogy of Cantrell. The most common is ventricular septal defect, found in 72% of cases. Others include atrial septal defect, cardiac diverticulum, pulmonic stenosis, double outlet right ventricle, tetralogy of Fallot, dextrocardia, and transposition of the great vessels. [2]

Causes

Most cases of pentalogy of Cantrell are idiopathic (no known cause). However, some cases have been described with a genetic linkage to a locus at Xq25-q26.1. [3]

Epidemiology

Pentalogy of Cantrell occurs in 1/65,000 to 1/200,000 live births. [2]

History

It was first characterized in 1958. [4]

A 2010 study concluded that the 13th-century Christian saint Rose of Viterbo died of complications of Pentalogy of Cantrell. [5]

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<span class="mw-page-title-main">Tetralogy of Fallot</span> Type of congenital heart defect

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<span class="mw-page-title-main">Pericardium</span> Double-walled sac containing the heart and roots of the great vessels

The pericardium, also called pericardial sac, is a double-walled sac containing the heart and the roots of the great vessels. It has two layers, an outer layer made of strong inelastic connective tissue, and an inner layer made of serous membrane. It encloses the pericardial cavity, which contains pericardial fluid, and defines the middle mediastinum. It separates the heart from interference of other structures, protects it against infection and blunt trauma, and lubricates the heart's movements.

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<span class="mw-page-title-main">Omphalocele</span> Rare abdominal wall defect in which internal organs remain outside of the abdomen in a sac

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<span class="mw-page-title-main">Ventricular septal defect</span> Medical condition

A ventricular septal defect (VSD) is a defect in the ventricular septum, the wall dividing the left and right ventricles of the heart. The extent of the opening may vary from pin size to complete absence of the ventricular septum, creating one common ventricle. The ventricular septum consists of an inferior muscular and superior membranous portion and is extensively innervated with conducting cardiomyocytes.

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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. S2CID   35126953.
  2. 1 2 3 4 5 "Orphanet: Pentalogy of Cantrell". www.orpha.net. Retrieved 2017-07-29.
  3. "OMIM Entry - % 313850 - THORACOABDOMINAL SYNDROME; THAS". www.omim.org. Retrieved 2018-10-31.
  4. 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.
  5. D'Anastasio PhD, Ruggero; et al. (19 June 2010). "The Heart of Santa Rosa". The Lancet . 375 (9732): 2168. doi: 10.1016/s0140-6736(09)60729-7 . PMID   20541795.