There are many malformations that form in utero. They can affect any organs and systems. The most dangerous are defects of the heart, lungs, digestive system, kidneys and brain. Some of them are incompatible with life. Others respond to surgical treatment. One of the most difficult malformations is the Cantrell Pentad. This disease is characterized by a number of disorders of several organs at once. In some cases, you can find Cantrell's incomplete pentad. Despite the severity of the defect, sometimes doctors are able to cope with the disease and restore the vital functions of the body.
Cantrell Pentad - what is this pathology?
This pathology refers to congenital heart defects and other organs. Based on the name, Cantrell's pentad includes 5 defects. Among them, the most dangerous is a violation of the cardiovascular system, which leads to changes in hemodynamics. Also, this defect implies a terrible cosmetic defect. It can be recognized immediately at the birth of the baby, as the heart of such newborns "sticks out." Cantrell's syndrome does not always consist of 5 defects. It happens that 1 or 2 violations are absent (tetrad, triad). In addition to heart defects, the disease includes another severe symptom - omphalocele. Also observed changes in the anterior abdominal and chest wall, diaphragm defect.
Pentrell Cantrell: causes of the disease
It is important to know that the disease forms in the second trimester of pregnancy. During this period, the laying of all vital organs and systems takes place. As you know, at 14-18 weeks of gestation a mesoderm is formed. Under the influence of adverse environmental factors and various infections of the mother during this period, some violations of embryogenesis may occur. One of these deviations may be the Cantrell pentad. The exact cause of the disease could not be established. Nevertheless, this defect is associated with chromosomal abnormalities. Among them, trisomy 18 and 13, Shereshevsky-Turner syndrome, X-linked pathology. It is known that this defect is quite rare. The frequency of its appearance is 3-5 newborns per million. Less than 100 cases are described in the world. The disease often affects boys.
Despite the fact that it has not yet been possible to find out the main cause of the pathology, it is necessary to know about the risk factors leading to various disorders of intrauterine development. Among them:
- Exposure to harmful and toxic substances (salts of heavy metals, narcotic and chemical compounds).
- Radiation exposure.
- Physical effects (injuries).
- Stressful situations.
- Smoking and alcoholic drinks.
The mechanism of hemodynamic disturbances
Due to the fact that at the Cantrell pentad various heart defects can be observed, hemodynamic disturbances are different from each other. Most often, this disease is accompanied by a defect in the interventricular septum. The development of hemodynamic disturbances depends on the size of the defect. With significant defects, a large discharge of blood into a small circle occurs, thereby leading to pulmonary hypertension. In this case, the left ventricle is overloaded and compensatory hypertrophy. As a result, there is an increase in both the pancreas and the left ventricle.
Atrial septal defect is less common. Hemodynamic disturbances with it also depend on the size of the defect. With a large message between the atria, the discharge of blood into the right section increases significantly, leading to hypertrophy and dilatation of the PP. In the left atrium, overload is observed.
The main manifestations of the cantrell pentad
As you know, the classic Cantrell syndrome includes 5 defects. Among them are the following violations:
- Omphalocele of the fetus. In another way, it is called the upper umbilical defect of the abdominal wall. This violation is characterized by the fact that the internal organs, normally located in the abdomen, are collected in an umbilical hernia sac and go outside.
- Chest wall defect. Most often, it is characterized by the absence or bifurcation of the xiphoid process. As a result of this, the heart also moves forward.
- The absence of the part of the pericardium, which should be adjacent to the diaphragm.
- Anomalies in the development of the heart. In almost all cases, ectopia is observed - an incorrect location of the organ. With this defect, the heart may be in the abdominal cavity or neck. In addition to ectopia, various malformations are also observed. In addition to ZHMP and DMSP, there is atresia of the tricuspid valve, pulmonary artery. In rare cases, a complete absence of a heart chamber is possible .
- Diaphragmatic hernia.
In addition to the fact that Cantrell's syndrome can be incomplete, its combination with other anomalies is also observed. Most often these are pathologies of the central nervous system (cerebral hernia, hydrocephalus), the gastrointestinal tract (pathology of the gallbladder and spleen), the absence of fingers or limbs.
The clinical picture of the disease
Symptoms of the disease become noticeable from the moment of birth. First of all, a significant cosmetic defect makes itself felt, in which the heart and abdominal organs “bulge” outward. In addition, in the first hours of life, more terrible symptoms join in. Due to congenital heart defects, the newborn receives little oxygen. As a result, he has shortness of breath, cyanosis, retraction of the intercostal spaces and the lower part of the sternum. Most often, such newborns need to be connected to a ventilator. To suspect this disease, it is necessary to find out where the heart is located in order to confirm one of the main signs - an ectopy of the organ.
What is the diagnosis of Cantrell Pentad?
Diagnosis of Cantrell's syndrome is based primarily on the external examination of the newborn. First, the doctor looks at the presence of omphalocele - a defect in the abdominal and chest walls, and then determines where the heart is. With the confirmation of ectopy, respiratory and hemodynamic indicators, the diagnosis is almost reliable. To determine the presence of heart defects, auscultation and echocardioscopy are performed. Ultrasound of the abdominal organs is impractical, since the first thing is to eliminate the defects.
Cantrell Pentade Treatment
Despite the fact that Cantrell's pentad is a combined and terrible vice, in some cases it can be dealt with. This applies to patients in whom hemodynamic disturbances are compatible with life. The main treatment for the defect is surgery. The operation consists of several stages and is considered one of the most difficult. The incision is performed along the midline of the chest and abdominal wall. At the same time, surgeons must correct heart defects and relieve digestive organs. Ectopia of the heart usually remains. In some cases, operations for small cases of breast cancer and ASD are postponed to a more suitable age (up to 3 years).
Developmental disease prevention
The main method of prevention is perinatal diagnosis. Typically, the diagnosis of Cantrell pentad in the fetus can be made already at 20-24 weeks of development. Most often, this conclusion is the reason for termination of pregnancy. Primary prevention includes:
- Avoidance of harmful effects.
- Maintaining a healthy lifestyle.
- Avoidance of stressful situations, especially in the first half of pregnancy.
The prognosis for this disease is ambiguous, since it depends on the degree of heart damage. In some cases, doctors manage to save the life of a child. Nevertheless, such children need constant care and supervision of specialists.