Among a wide range of congenital heart diseases there are pathologies that can confuse even experienced specialists.
One of them bears the beautiful name Pentad Cantrell, and is a dangerous disease that pose a direct threat to the life of the child.
Is it possible to detect this defect in the early stages and avoid the severe consequences of its development?
Description
Pentad Cantrell or Cantrell syndrome is a rare heart disease that is characterized by numerous anomalies and ectopia of the organ, i.e. its omission and abnormal location of the on the chest surface.
The pathology meets an average of in 5 infants from a million , and in the history of medicine, only 90 cases of the development of this disease are described, and more often it is found in male embryos.
Causes and Risk Factors
The etiology of this complex defect has not been clarified to date. It is known that its main cause is development of the mesoderm segment between the 14th and 18th day after the conception of - this leads to non-growth of the abdominal wall and incomplete fusion of the primary strands.
In addition, according to experts, can cause or exacerbate pathology, can any factors that have a negative impact on the fetal development of the child : exposure to radioactive radiation, heavy metals and toxins, narcotic drugs, etc.
Forms, Dangers and Complications
Diagnosis is based on the five criteria of , including defects in the abdominal wall and sternum, as well as internal cardiac abnormalities.
In the absence of one or more symptoms, it is customary to speak of an incomplete form of the disease, which has a more favorable prognosis than the full form.
The main danger is that most children with Cantrell's syndrome are born with multiple heart lesions of and other organs that are incompatible with life.
But even in cases where patients with this diagnosis survive, their quality of life deteriorates significantly - they require appropriate care and, in the absence or impossibility of surgical intervention, die at a young age.
Symptoms of
The number of symptoms on the basis of which this pathology is diagnosed includes:
- Ophalocele .Umbilical or embryonic hernia occurs in 74% of patients and is a congenital defect of the anterior abdominal wall, in which the organs localized in the peritoneum extend beyond it in the hernial sac.
- Defects of the sternum and abdominal wall .Cantrell's syndrome can be suspected when the fetus is diagnosed with a defect in the lower third of the sternum, a mid-nadular defect of the anterior abdominal wall, the absence of the xiphoid process( the shortest part of the sternum that forms its lower end), and the sternum splitting, complete or partial.
- Defects of the diaphragm .A common symptom of this pathology( found in 56% of patients) is defects and anomalies of the diaphragm, most often diaphragmatic hernia.
- Defects of the pericardium .In 41% of patients, there is no diaphragmatic pericardial segment.
- Ectopia of the heart .Ectopia is a pathology characterized by an abnormal position of the heart - it is located not in the chest, but in its split( if there are corresponding defects), in the neck or in the abdominal cavity.
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Intracardial pathologies .In 100% of patients, intracardial pathologies and heart defects are diagnosed, most often the defect of the interventricular septum, that is, the presence of a non-protruding opening in the muscular wall that separates the right and left ventricles. Fewer( in half the cases) patients are diagnosed with an atrial septal defect, and in 20% of newborns the Fallot tetrad and ventricular diverticulum.
- Anomalies of the CNS .The vice is often accompanied by all kinds of anomalies of the central nervous system - hydrocephalus, craniosis( nezarachenie skull) and encephalocele( craniocerebral hernia, accompanied by protrusion of the brain through the defect of the skull).
- Limb defects .Among the defects of the limbs that occur in this pathology include the absence of fingers, parts of the shoulder, shin, etc.
- Defects of the digestive system .In patients with Cantrell's syndrome, spleen pathologies and anomalies of development( or complete absence) of the gallbladder are observed.
When should I see a doctor?
It is impossible to diagnose the development of the disease or to determine its symptoms in the fetus, so it is usually detected during prenatal screening of in the second trimester .
Diagnosis
When diagnosing pathology with the ultrasound, a physician can find that the heart of the fetus has many characteristic abnormalities and shrinks outside the chest - in combination with omphaloceles, this gives good reasons for further research.
Differential diagnosis of is performed with thoracic and isolated ectopia of the heart, anomaly of development of the body stem, isolated omphaloceles, Beckwith-Wiedemann syndrome and other chromosomal abnormalities. To exclude these defects and anomalies, the woman undergoes amniocentesis with subsequent karyotyping.
After birth, the baby needs urgent echocardiogram to detect cardiac abnormalities, and other associated symptoms can be diagnosed with ultrasound and MRI .
It should be noted that for mild forms of the disease , when the true ectopia of the heart and pronounced sternal defects are absent, it is very difficult to determine the presence of pathology.
In such cases, Cantrell's syndrome is detected much later, with preventive examinations or due to any complaints.
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Treatment Methods
There is no specific or intrauterine treatment of pathology .In complex cases, when the fetus has all the characteristic signs and anomalies, a woman is advised to terminate the pregnancy.
In case of refusal from abortion of , the delivery is performed by caesarean section of in specialized prenatal centers, and then immediately begin appropriate treatment, which depends on the severity of defects and the condition of the newborn.
The patient undergo surgery to eliminate umbilical hernia, as well as defects in the diaphragm, sternum and pericardium. However, in many cases, such an operation is impossible due to hypoplasia of the thorax and ectopia of the heart.
Forecasts and prevention of
Forecasts for patients in this case are extremely unfavorable. According to statistical data, the survival rate is only 20%, and they fall exclusively on patients with mild disease.
The medical literature describes cases when, with appropriate care and treatment, children with a similar diagnosis survived to kindergarten and even to adolescence, but they can be called single. The duration and quality of life of these patients is very low , and in the future they still require complex surgical intervention.
Since the exact causes of this defect are not yet known, does not have specific methods for its prevention. The general measures include a healthy lifestyle during pregnancy and the elimination of any factors that can adversely affect the fetal development of the fetus.
The most important factor in diagnosing Cantrell pentada and other congenital heart diseases is the prenatal screening of , which should be performed in a timely manner using the latest equipment.
Therefore, every pregnant woman should periodically visit the women's consultation , go through all the prescribed tests, and in case of suspected serious developmental anomalies, immediately consult a specialist.
