Which are the symptoms of Pentalogy Of Cantrell?

Pentalogy of Cantrell is a rare congenital disorder characterized by a combination of several structural abnormalities in the chest and abdominal wall. It was first described by Cantrell and colleagues in 1958 and is estimated to occur in approximately 1 in 65,000 live births.

The condition is characterized by five main features:

1. Midline defect of the lower sternum: One of the key features of Pentalogy of Cantrell is the presence of a midline defect in the lower part of the sternum (breastbone). This defect can range from a small cleft to a complete absence of the sternum.



2. Defect in the anterior diaphragm: Another common feature is a defect in the anterior part of the diaphragm, the muscle that separates the chest cavity from the abdominal cavity. This defect can vary in size and may lead to herniation of abdominal organs into the chest cavity.



3. Defect in the diaphragmatic pericardium: The diaphragmatic pericardium is a membrane that covers the lower part of the heart. In Pentalogy of Cantrell, there is often a defect in this membrane, allowing the heart to protrude into the abdominal cavity.



4. Defect in the abdominal wall: The abdominal wall may also have a defect, which can range from a small opening to a large omphalocele (a condition where abdominal organs protrude through the belly button). This defect can lead to the exposure of abdominal organs outside the body.



5. Cardiac abnormalities: Many individuals with Pentalogy of Cantrell have associated cardiac abnormalities. These can include defects in the heart's structure, such as ventricular septal defects (holes in the wall separating the heart's chambers), atrial septal defects (abnormal openings between the heart's upper chambers), or abnormalities in the positioning of the heart within the chest cavity.

Other less common features that may be present include:

• Abnormalities in the lungs


• Defects in the abdominal organs


• Malformations of the limbs


• Genitourinary abnormalities


• Central nervous system abnormalities

The severity of symptoms can vary widely among individuals with Pentalogy of Cantrell. Some may have mild forms of the condition with only a few of the features mentioned above, while others may have more severe forms with multiple organ involvement.

Common symptoms and complications associated with Pentalogy of Cantrell include:

• Respiratory difficulties: Due to the chest wall and diaphragmatic abnormalities, affected individuals may experience breathing difficulties, especially soon after birth.


• Cardiac problems: The associated cardiac abnormalities can lead to various heart conditions, including heart murmurs, arrhythmias, and heart failure.


• Gastrointestinal issues: The abdominal wall defects and potential herniation of abdominal organs can result in gastrointestinal complications, such as feeding difficulties, bowel obstruction, or malrotation.


• Genitourinary problems: Some individuals may have abnormalities in the genitourinary system, which can lead to issues with kidney function or reproductive health.


• Developmental delays: Depending on the severity of the condition and associated complications, affected individuals may experience developmental delays or intellectual disabilities.

It is important to note that the symptoms and severity of Pentalogy of Cantrell can vary significantly from person to person. Early diagnosis and appropriate medical management are crucial to address the specific needs and potential complications of individuals with this condition.