Ivemark Symptom Complex

According to biotionary.com, the Ivemark symptom complex is a syndrome composed of various malformations. In some cases, the disease is also referred to synonymously as Ivemark’s association or spleen genesis syndrome. The disease is primarily characterized by the fact that the affected people usually do not have a spleen and also suffer from various heart defects.

Ivemark Symptom Complex

What is Ivemark Symptom Complex?

At the present time, the exact cause of the development of the Ivemark symptom complex is still largely unclear. However, doctors and researchers assume that a genetic component is involved in the development of the disease.

Basically, the Ivemark symptom complex occurs relatively rarely. The frequency is estimated at about 1:40,000. The disease was first described by the physician Ivemark and subsequently named after him.

Due to the fact that affected patients do not have a spleen and suffer from different types of heart defects, the syndrome is what is known as heterotaxia. In principle, the life expectancy of people suffering from Ivemark’s symptom complex tends to be lower than that of the general population.

The Ivemark symptom complex affects several organ systems of the human body. While the spleen is completely absent in some patients, it is underdeveloped in others. The heart is usually deformed, and other organs in the chest and abdomen are abnormally localized.

It is also possible that the individual clinical presentation of the disease differs greatly from patient to patient. Many affected children suffer from heart problems in connection with a bluish discoloration of the skin. The reason for this blue coloration is that the blood does not transport enough oxygen. If the Ivemark symptom complex occurs during childhood, it leads to life-threatening complications in numerous cases.


At the present time, the exact cause of the development of the Ivemark symptom complex is still largely unclear. However, doctors and researchers assume that a genetic component is involved in the development of the disease. Various observations speak in favor of inheritance of the Ivemark symptom complex.

On the one hand, a sporadic occurrence of the disease is possible, on the other hand, in some cases there are familial clusters of the Ivemark symptom complex. Therefore, a hereditary cause of the disease is obvious. It is also relevant that the Ivemark symptom complex is usually counted among the so-called heterotaxies.

This category of diseases involves disorders in the lateral distribution of organs in the body (medical term lateralisation). Various studies have shown that heterotaxies are caused in many cases by mutations in various gene segments.

Symptoms, Ailments & Signs

The Ivemark symptom complex is characterized by various complaints and typical symptoms. However, each patient has an individual manifestation of the symptoms. The main symptom of the disease is usually the absence of the spleen.

In some cases, the organ is present but shifted to the right or has an abnormal shape. It is possible, for example, that a person has several spleens that are smaller than normal and are distributed throughout the abdomen. In addition, different heart defects are typical for the Ivemark symptom complex.

These often lead to a reduced life expectancy of the affected patients. For example, a so-called atrio-ventricular septal defect is possible. In some cases, the main arteries are transposed or there is a so-called truncus arteriosus communis.

Other organs may also be affected by the deformities. Dislocations of the gastrointestinal tract or a three-lobed lung on the left side are common. Sometimes there is a situs inversus.

Diagnosis & course of disease

The Ivemark symptom complex can be diagnosed in a number of ways. The doctor treating you selects the examination methods to be used in each individual case. An anamnesis is usually carried out first.

The patient is asked to provide the doctor with important information regarding the symptoms, their medical history and any genetic predispositions they may have. In the next step, the clinical appearance of the disease becomes the focus of the examination. Numerous examination methods are available for a reliable diagnosis.

The absence or dysfunction of the spleen, for example, can be detected using blood tests. Heart defects can be determined using an echocardiogram. This is an imaging procedure that provides information about the location, type and severity of the heart defect.

In addition, it is possible to diagnose the Ivemark symptom complex prenatally using ultrasound studies of the embryo. Here, for example, defects in the heart can be detected.


The Ivemark symptom complex causes various complaints in the patient. Those affected usually suffer from a missing spleen and heart problems. In the worst case, the heart problems can also lead to the death of the patient or significantly reduce the quality of life. In some cases, the patient may have a spleen, but it may be displaced in the body, reducing its function.

These symptoms usually reduce the life expectancy of those affected. It cannot be ruled out that other organs are also affected by malformations or malformations, so that various complaints can occur. The diagnosis of this disease can usually be made immediately after birth. However, whether treatment is necessary depends on the severity of the symptoms.

In some cases, surgery is necessary to resolve the heart condition. Due to the missing spleen, the affected person may have to take antibiotics more often. There is also a higher susceptibility to infections. These must then be treated with medication. However, a causal treatment of this disease is not possible, so that only the symptoms can be limited.

When should you go to the doctor?

Heart problems, abdominal pain and other typical signs of an Ivemark symptom complex should be clarified quickly by a doctor. The disease can be fatal if left untreated and therefore requires early diagnosis and therapy. Parents of children who tire quickly or complain of pain should consult the pediatrician . This is particularly necessary if the symptoms persist over a longer period of time and increase in intensity over the course of time.

The disease is genetic and is therefore ideally diagnosed immediately after birth. Children who have an Ivemark symptom complex should be evaluated regularly by a doctor. Further visits to the doctor are necessary if new symptoms suddenly appear or the child shows signs of cardiac arrhythmia. If a heart attack is suspected, the emergency services must be called immediately. A longer hospital stay is then usually indicated. The support of a therapist makes sense for parents and child, since the disease often takes a negative course.

Treatment & Therapy

There are many different options available to treat Ivemark symptom complex. The use of therapeutic measures depends primarily on the individual symptoms. It is usually necessary for several specialists from different fields to work together on a therapeutic concept for the patient concerned.

The treatment is therefore primarily interdisciplinary, for example in cooperation between surgeons, paediatricians and cardiologists. Heart defects may require surgical procedures, which vary depending on the severity of the defect. Due to the absence or hypofunction of the spleen, prophylactic therapy with antibiotics is often required.

In this way, the risk of infections in sick children can be reduced. However, if infections do occur, they must be treated effectively in order to avoid complications.

Outlook & Forecast

The prognosis of the Ivemark symptom complex depends on the severity of the individual manifestation of the disorder. Since the disease is caused by a genetic disposition, there is no possibility of a cure. Human genetics may not be modified due to legal requirements. Therefore, the focus of all therapeutic approaches is on alleviating the symptoms that have occurred. The patient’s quality of life should be improved and well-being promoted.

The prognosis becomes less favorable if there is a heart defect. In severe cases, this can lead to the sudden death of the person concerned. In addition, surgical interventions are necessary in most cases. These come with the usual risks and side effects. If the person concerned suffers from deformities in other organs, the prospect of alleviating the symptoms is also more difficult. Coping with everyday tasks becomes more difficult. The affected person is susceptible to other diseases and infections.

A large number of patients require lifelong drug treatment to ensure that the organism can function properly. If the medicines are discontinued on one’s own responsibility, the health will deteriorate within a short time. If secondary diseases or psychological stress occur, this complicates the treatment. There may be an additional decrease in quality of life and an increase in existing symptoms. This must be taken into account when making an individual prognosis.


At the present time there are still no possibilities for the prevention of the Ivemark symptom complex. Because the causes of the development of the disease are largely unexplored.


The follow-up measures for the Ivemark symptom complex depend heavily on the exact severity of the disease, so that a general prediction is usually not possible. However, the aftercare itself is very limited in many cases, so that the person concerned is primarily dependent on a quick diagnosis and also on early treatment. As a rule, self-healing cannot occur with the Ivemark symptom complex.

Most patients with this disease are dependent on taking various medications, with antibiotics also having to be taken in many cases. The person concerned should take care to take the medication regularly and also to take the right dosage in order to properly alleviate the symptoms. It should also be noted that antibiotics should not be taken together with alcohol.

Regular check-ups with a doctor are necessary in order to continuously and correctly monitor the condition of the person concerned. In many cases, a healthy lifestyle with a healthy diet and physical activity can also have a positive effect on the course of the disease. This may result in a reduced life expectancy for those affected.

You can do that yourself

The Ivemark symptom complex usually cannot be treated by self-help. Those affected are always dependent on the help of doctors and surgical interventions with this disease.

Due to the various malformations and deformities, those affected require intensive care. Above all, care provided by parents or by friends and relatives can have a positive effect on the course of the disease. Mental health problems or inferiority complexes can also be resolved through discussions with the family. Discussions with other affected people can often be useful and contribute to a positive course of the disease.

Since patients often develop heart problems due to the Ivemark symptom complex, regular check-ups by a cardiologist should take place in order to avoid possible complications. Immediate treatment with antibiotics is also necessary in the case of infections or inflammation due to the weakened immune system. Further treatment and everyday life depend very much on the development or damage to the other organs. As a rule, however, those affected are dependent on the help of their families in their lives.