What is Pentalogy of Cantrell?
Pentalogy of Cantrell (POC) is a rare birth condition that includes five abnormalities in the middle part of the body, giving healthcare professionals a unique challenge. This condition affects the heart, the sac around the heart (pericardium), the muscle that helps with breathing (diaphragm), the bone in the center of the chest (sternum), and the wall of the belly. Depending upon how many of these five parts are affected, POC is divided into two types: complete, which means all five areas are affected, or partial, where only some areas are affected.
Sometimes, this condition is also called thoracoabdominal ectopia cordis, which means the heart is covered by a layer of tissue similar to an umbilical hernia. A typical characteristic of POC is ectopia cordis (EC), a situation where the heart is outside its usual position, often in babies with this condition. These babies usually have multiple heart deformities, with ventricular septal defects (holes in the wall of the heart’s lower chambers) and tetralogy of Fallot (a combination of four heart defects) being the most common.
POC may also have genetic connections with certain chromosomal disorders like trisomy 13, 18, 21, and Turner syndrome. The first step in treating POC is to address the absence of skin covering the heart and belly.
After the initial treatment, more surgeries may be needed to cover the defects in the middle of the body, separate the heart’s sac and belly compartment, and repair the diaphragm. To close any remaining defects, advanced techniques are used, such as the use of tissue flaps, closing with skin only, or using biomaterials. The defects within the heart are often fixed at a later date. Survival chances largely depend on the heart defects and the extent of the defect in the chest and belly region.
What Causes Pentalogy of Cantrell?
The exact reason behind the pentalogy of Cantrell, a group of five birth defects, is not clear yet. Most of the time, these cases appear randomly with no apparent pattern. However, reported examples in families suggest that genetics could influence the development of this disorder. It’s also been associated with chromosomal abnormalities, conditions where a person has more chromosomes than usual, such as trisomy 21 (Down syndrome), trisomy 18 (Edward syndrome), and Turner syndrome. Some believe that genes found on the X-chromosome could play a role in this condition but currently, there isn’t enough evidence to fully support this idea.
Risk Factors and Frequency for Pentalogy of Cantrell
The Cantrell pentalogy is a condition that typically appears at birth. This ailment affects approximately 1 in every 65,000 live births. According to a study focusing on infants in Baltimore-Washington with birth heart irregularities, the regional occurrence rate is about 5.5 per 1 million live births. There’s a slightly higher prevalence in males, with a ratio of 1.35 males for every female.
Signs and Symptoms of Pentalogy of Cantrell
Patients with abdominal wall defects may experience several different symptoms. These defects might result in a condition called ectopia cordis, where the heart is partially or entirely out of the chest cavity with no covering from the abdominal wall. Another potential symptom is omphalocele, characterized by abdominal contents sticking out through the abdominal wall covered by a thin layer. Some patients might also have a wide gap between their abdominal muscles (abdominal diastasis) or may have their abdominal contents sticking out through the abdominal wall without any layer covering them (gastroschisis).
Patients can also have sternal defects, which can be anything from complete absence of the xiphoid (the lower part of the sternum) to a complete absence of the entire sternum. In some cases, the sternum could be shorter than usual, or there might be a cleft in it.
Diaphragmatic defects may also occur, which usually lead to a condition called diaphragmatic hernia. This condition occurs when the diaphragm has a hole, causing the abdominal contents to protrude into the chest cavity. This can show up on chest X-rays as bowel contents in the chest cavity and can be identified by the sound of bowel movements heard when the chest is examined with a stethoscope.
Pericardial defects, which affect the fluid-filled sac surrounding the heart, are found in some cases. While generally less severe, they can still present with a suppressed or muffled heart sound when the heartbeat is auscultated.
Lastly, cardiac defects are also associated with this condition. Such defects, which can include atrial septal defects, ventricle septal defects, left ventricular diverticulum, dextrocardia, pulmonary stenosis, and tetralogy of Fallot, may cause symptoms such as difficulty in breathing, bluish discoloration of the skin, and abnormal sounds from the heart.
Testing for Pentalogy of Cantrell
The Cantrell’s Pentalogy, a group of five birth defects, can be identified through ultrasound during the first trimester of pregnancy. This early diagnosis is very beneficial as it allows families to make informed decisions about the pregnancy. It can also help doctors to plan any necessary procedures that the baby might need after birth.
After a baby is born, doctors usually take a chest X-ray which can show them if there’s any problem with the diaphragm (muscle helping us breathe) or if the heart is located on the right side of the chest (dextrocardia). Further tests such as a CT (Computed Tomography) scan and an MRI (Magnetic Resonance Imaging) of the heart may also be conducted to understand the extent of any defects present and to plan any surgeries that might be needed.
An echocardiography test (an ultrasound of the heart) is essential to check for any defects in the heart and to look at how well it is pumping blood. Additionally, since Cantrell’s Pentalogy can be associated with abnormal numbers of chromosomes (aneuploidy), doctors may perform a karyotyping test. This test analyzes the number, size, and shape of chromosomes in a sample of cells, which can provide useful information for counseling the family regarding potential genetic risks or future pregnancies.
Treatment Options for Pentalogy of Cantrell
Treatment for pentalogy of Cantrell, a rare condition involving five birth defects, depends on which and how severe these defects are. These defects often require various surgical procedures and the care of a team of specialists.
Typically, treatment begins with immediate care for new-borns and gradually progresses to surgeries that correct specific defects. These defects could include problems with the heart, diaphragm (the muscle that helps you breathe), or other parts of the body. Initially, the goal is to safely cover these areas to protect them from infection and subsequent complications.
For defects like omphalocele (where internal organs protrude outside the belly), initial treatment may include giving the patient preventative antibiotics and changing their dressings daily to encourage skin growth over the protrusion.
Unfortunately, severe cases of this condition can have high rates of complications and death, even with treatment. The surgeries themselves carry significant risks, so if patients are stable, doctors typically opt for non-surgical treatments first.
If possible, surgeons try to fix the breastbone, diaphragm, and pericardium (the sac around the heart) during the same operation. However, in many cases, separate operations are needed to address each issue, known as a staged surgical approach.
Certain heart abnormalities, like ventricular diverticulum (an unusual pouch in the heart’s chamber) can increase the risk of blood clots, so early repair of this is often considered. Other heart defects, like those affecting the walls of the heart’s chambers, may be addressed later if the patient is stable. If there’s too much fluid around the heart, a procedure known as pericardiocentesis may be performed to remove it.
After the surgical repairs, it’s important to prevent high pressure in the abdomen and chest as this can interfere with healing.
What else can Pentalogy of Cantrell be?
There are several newborn health conditions that can look like the Pentalogy of Cantrell. They include:
- Amniotic band syndrome – This appears similar to the Pentalogy of Cantrell. Signs that could suggest this syndrome are when the baby’s limbs and face are affected.
- Limb body wall complex
- Body stalk anomaly
- Isolated ectopia cordis
- Isolated omphalocele.
A thorough medical examination of the newborn is necessary before a diagnosis can be made. In some situations, the correct diagnosis might not become clear until surgery is performed.
What to expect with Pentalogy of Cantrell
The estimated survival rate for patients with this condition is about 37%. The outlook for these patients greatly depends on how severe the defects are within the heart and other parts of the body, the extent of issues with the abdominal wall, underdeveloped lungs, and hernias in the diaphragm. Unfortunately, the prognosis tends to be less positive for patients with severe disease and a full-blown case of a condition called pentalogy of Cantrell. Without any surgical intervention, the average survival time is roughly 36 hours.
Possible Complications When Diagnosed with Pentalogy of Cantrell
: The complications from pentalogy of Cantrell can vary widely and can be due to surgery, anesthesia or lack of timely care. These include a fast, irregular heartbeat, a slow heartbeat, low blood pressure, weakness or tearing of the heart’s muscle wall, and heart failure. After surgery, high pressure within the abdomen and chest could lead to heart problems and damage to abdominal organs. This makes it crucial for the entire medical team to be vigilant to avoid these potential problems. Despite all precautions, the death rate remains at 37%.
Common Complications:
- Fast, irregular heartbeat
- Slow heartbeat
- Low blood pressure
- Weakened or torn heart muscles
- Heart failure
- High pressure within the abdomen and chest post-surgery
- Potential heart problems due to increased pressure
- Damage to abdominal organs
Preventing Pentalogy of Cantrell
Parents should be guided on what the future could look like for a child with Pentalogy of Cantrell. This includes counselling before the baby is born (antenatal counseling) about the chances of survival and potential health risks (morbidity risks) linked to this health condition. Although there are some rare cases reported that might suggest a family history connection, there isn’t enough evidence to generally recommend genetic counseling. However, due to an anomaly on the chromosomes (aneuploidy) that is often linked to this health condition, genetic testing might be helpful to assess the risk for future pregnancies.
It’s crucial to take a balanced approach during the prenatal phase. This means that any proactive actions taken before the baby is born (aggressive prenatal interventions), should be weighed properly against the likely health condition of the child after birth (post-natal prognosis) and in line with the expectations of the parents.
