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Thoracoabdominal Syndrome: All You Need to Know [Types, Diagnosis & Treatment]

Thoracoabdominal Syndrome: All You Need to Know [Types, Diagnosis & Treatment]

You all might hear or see about the thoracoabdominal syndrome. The thoracoabdominal syndrome may be common because it is an abnormality in the midline birth defect. But if you aren’t aware of this, don’t worry. Here we will give each and everything related to the thoracoabdominal syndrome to make your learning feasible in just a few minutes. 

What is Thoracoabdominal Syndrome?

It is an unreported deformity thoracoabdominal syndrome. The respective quantity of influenced males and females and appreciably severer signs in males propose an X‐linked dominant inheritance. It is also known as the pentalogy of Cantrell. The syndrome is composed of diaphragmatic and ventral hernia, hypoplastic lung, and cardiac anomalies.

Clinical Features of The Thoracoabdominal Syndrome

It was suggested X-linked dominant inheritance for an earlier undescribed deformity syndrome. The features were diaphragmatic and ventral hernias, hypoplastic lung, and cardiac anomalies such as inversion of the large vessels and patent ductus arteriosus. 

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The defect is present in the abdominal wall even in its severe form, was equally there in females and males, the diaphragmatic and lung irregularities were mainly limited to males.

Presentation of The Thoracoabdominal Syndrome

Pentalogy of Cantrell or thoracoabdominal syndrome is a condition marked by a mixture of midline birth errors that can potentially require the sternum. The errors in the chest are as follows; 

  • The muscle that distributes the thorax cavity from the abdomen and help in breathing (diaphragm) 
  • The transparent membrane that follows the heart (pericardium)
  • The abdominal wall
  • Heart
Thoracoabdominal Syndrome: All You Need to Know [Types, Diagnosis & Treatment] 3 - Daily Medicos

It can have different stages of severity and can be fatal. Most affected newborns do not have above mentioned potential defects. 

There are five characteristic findings in the pentalogy of Cantrell or thoracoabdominal syndrome;

  • Congenital heart abnormalities
  • Non- appearance of the diaphragmatic pericardium
  • An anterior diaphragmatic defect
  • An abdominal wall defect
  • Lower sternal defect

Symptoms of Thoracoabdominal Syndrome

Thoracoabdominal Syndrome, also known as pentalogy of Cantrell is compared to sternal cleft and ectopia cordis. A crucial gene connected with Thoracoabdominal Syndrome is THAS (Thoracoabdominal Syndrome). The symptoms of the thoracoabdominal syndrome are;

  • Hydrocephalus: a condition in which an accumulation of cerebrospinal fluid within the brain. 
  • Anencephaly: a condition in which the main portion of the brain, skull, and scalp is absent. 
  • Cystic hygroma: a condition in which a blockage of the lymphatic system occurs as a result of a fluid-filled sac.
  • Hypospadias: a condition in which the urethral opening is the underside of the penis. 
  • Renal agenesis: a condition in which an infant is missing with one or both kidneys. 
  • Transposition of the great vessels: is an abnormal spatial arrangement of any great vessel. 
  • Cleft palate: a condition in which the tissue doesn’t infuse together in the development in the womb causes a split in the roof of the mouth. 
  • Patent ductus arteriosus: a condition in which ductus arteriosus fails to close after birth. 
  • Ectopia Cordis: a condition in which the heart is located partially or completely outside of the thorax. 
  • Congenital heart defect: a condition in which an abnormality is present in the structure of the heart. 
  • Omphalocele: a defect in the abdominal belly wall. 
  • Ventral hernia: hernia in the abdominal wall muscles
  • Diaphragmatic hernia: a birth defect condition in which there is a hole in the diaphragm
  • Hypoplastic lung: is an incomplete development of the lungs. 

Causes of Thoracoabdominal Syndrome

The thoracoabdominal syndrome or pentalogy of Cantrell has no specific cause or we can say that the causes are unknown. Some occur sporadically but familial cases have been reported. 

Treatment of Thoracoabdominal Syndrome

There is no specific treatment for the thoracoabdominal syndrome or pentalogy of Cantrell so the treatment is based on the above-mentioned symptoms. The treatment procedure might be a heart procedure, lung surgery, neurosurgery, and abdominal surgery, etc. 

Conclusive Thoughts

Pentalogy of Cantrell or thoracoabdominal syndrome) is an infrequent syndrome that produces defects involving the diaphragm, abdominal wall, pericardium, heart, and lower sternum. The defect might be severe and required urgent medical attention or might be surgery. The causes are not reported yet so we don’t know the exact causes of the thoracoabdominal syndrome. The treatment depends on the symptoms. 

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