Ivemark Syndrome: Causes, Symptoms, Complications, And Treatment

Ivemark Syndrome is one of the rare genetic disorders that damage several body organs. This is an autosomal recessive disorder which means it is inherited by the child by one or both of the parents.

The syndrome is also classified under heterotaxy or laterality disorder, which describes its nature to create deformations in organs and its normal arrangements.

In most cases, one can identify the presence of this genetic mutation if the spleen of the child is underdeveloped or absent at the time of birth. Also if the arrangement and formation of body organs like heart, lungs, liver, etc are unusual, in that case, one needs to see a medical professional for further treatment plans. If not detected on time, it can cause serious life-threatening complications that can also lead to an infant’s death.

Summary: Ivemark Syndrome is an autosomal recessive disorder that is classified under heterotaxy or laterality disorder. It can be described as a rare genetic disorder that damages several body organs from both internal and external patterns.

Symptoms of Ivemark Syndrome are mostly internal. This makes it hard for the parents as well for the doctors to diagnose the disease at early stages. Here are some of the external symptoms that may help you diagnose the presence of internal damage:

• Discoloration of the skin, mostly blue around the abdomen area
• Lack of energy
• Shortness of breath
• Pain in the abdomen
• Frequent infections

If your infant shows any of the signs mentioned below, see your doctor immediately as it can be the sign of the following internal symptoms:

• Absence or underdevelopment of the spleen
• Intestinal malrotation
• Congenital heart defects
• Cyanosis
• Blood infections
• Pancreatic aplasia

Summary: Symptoms of Ivemark Syndrome are mostly internal in its nature. But there are some surface symptoms that may help you identify the presence of the disease.

Cases associated with Ivemark Syndrome are mostly sporadic cases, which means the reason for the disorder is still unknown. While some believe it’s due to environmental factors, most of them see it as a genetic mutation. In 1995 when the disease is first discovered, it has been commonly seen amongst the members of the same bloodline.

Also, scientists of that time suspect that mutations of the connexin43 gap junction gene are closely connected to the cause of Ivemark Syndrome. This theory has been rejected by many scientists who have later researched this heterotaxy disorder.

Summary: The occurrence of Ivemark Syndrome is still a mystery. Scientists have many theories but none of them has been proven right so far.

The procedure of detecting genetic mutations with unknown causes is not well established. Most of the patients with this syndrome show group of heterotaxy disorders as the symptoms at the fetal stage only. So during your regular checkups and ultrasounds to see the baby's development, your doctor will look for anything unusual or left-right asymmetry between certain organs.

In the case of adults, your doctor initiates the diagnosis with the assistance of your physical signs. After that, your doctor will suggest you have a DNA test and an echocardiogram. This will confirm the presence of a genetic mutation in both blood and physical structure. Post-testings, your medical and family history will be looked upon to clarify the presence of Ivemark Syndrome.

Summary: There are no structured guidelines to assist the presence of Ivemark Syndrome at any stage of life. From fetal to adult your doctor will look for left-right asymmetry and other associated symptoms.

No such preventive method has been discovered to preclude the development of Ivemark Syndrome. As the current research concludes, it’s a genetic mutation. Thus, diseases of such nature cannot be stopped in future generations. So the only preventive method that can be suggested in such situations is to avoid having any future offsprings of the same bloodline.

Summary: Ivemark Syndrome cannot be prevented. However, it is been advised not to plan any future generations from the family with such genetic mutations.

The surface symptoms of Ivemark Syndrome are quite common in occurrence, especially when an individual is not aware of the genetic mutations or their family backgrounds.

So it’s important to seek medical attention if the physical discomfort escalates without any known cause. Also, fetal assistance during the time of pregnancy is very important, it will give you time to look for adequate solutions.

Summary: It is important to have proper medical aid if a person is experiencing any of the signs and symptoms associated with Ivemark Syndrome.

No, Ivemark Syndrome does not go away on its own. It’s a medical condition that has been predeposited in your DNA at the time of birth which neither can be removed nor can be cured in the current times.

No fixed therapeutic care has been mapped out for Ivemark Syndrome. However, doctors have managed to control the damage caused by genetic disease quite well. The absence of spleen and heart deformations are some of the key signs of this medical condition.

Absence or poor functioning of the spleen is often managed by prophylactic antibiotic therapy. This therapy helps an individual in better prevention of the infection caused by such cases. On the other hand, heart abnormalities under Ivemark Syndrome can only be corrected by surgery. Medications and other forms of post-surgery therapy will also be advised as per the need of the body.

Summary: Treatment of Ivemark Syndrome has not been well established. Your doctor will carry the procedure of treatment as per the body’s damage and needs.

In cases of genetic mutation with unknown causes, food can be a hard thing to plan out. Your diet for Ivemark Syndrome will only be designed by your doctor as per the nutrition value your body demands to stay healthy.

Under the current therapeutic guidelines of Ivemark Syndrome, the diet plan has not been well set. Your doctor can only tell what not to eat after a deep analysis of their physical health.

Other than generic medications, there are two methods of treatment that have been commonly used for the treatment of Ivemark Syndrome; heart surgery and prophylactic antibiotic therapy. While prophylactic antibiotic therapy can cause severe digestive problems, heart surgery often weakens the abilities of its functioning leading to many cardiovascular, respiratory, neurological, and physiological side effects.

Summary: The overall treatment plan does not have any specific side effects, however, each of the methodologies that can be used has its individual complications.

Yes, Ivemark Syndrome can cause drastic effects on your physical health which often leads to death if not diagnosed or controlled on time. It has been advised to anyone with the same set of signs to address the situation as soon as possible.

Summary: Due to the nature of the medical condition, it is recommended to seek urgent care to start with early detection and treatment.

Genetic disordered are known to be the hardest disease to treat. They have developed during the fetal stage and go as long as the person lives. Ivemark Syndrome can only be controlled, not treated so there is no recovery period for it.

Summary: Since there is no way to cure Ivemark Syndrome, no set recovery period is been noticed amongst patients having supporting treatments.

Medical consultation may start from as low as INR 500 per hour and can go up to INR 2000 per hour depending on the doctor. Medication and general treatments can cause up to one lakh per year, whereas major surgical procedures can cost around 7-10 lakh.

Summary: The cost of the treatment includes consultation, medication, surgical procedures consulted by your doctor. The total cost of the treatment depends on how long it goes from 7- 10 lakh per year.

Ivemark Syndrome is generally diagnosed at the fetal stage or at the time of birth. At this stage of human life, one does not need to have any physical exercise. In the case of children and adults consult your doctor to know what and how much exercise is needed for a healthy life.

Summary: No physical exercises have been defined to manage the disease in adults. In other cases of Ivemark Syndrome, no exercise is needed.

No compounds or salts have been successful to treat Ivemark Syndrome. Medication for such cases prescribes on the basis of surface symptoms and post-surgery care only. These medications will help you manage the abnormal behavior of the body organs controlled by the mutated gene.

Summary: No precise medicine has been invented to cure Ivemark Syndrome. The therapeutics will only focus on the management of bodily functions.

No, the results of the treatment advised under Ivemark Syndrome do not show any permanent results. One has to undergo treatment for the entire life.

Summary: Medical care is given for managing the symptoms of Ivemark Syndrome cannot give permanent relief.

No secondary options are available for Ivemark Syndrome management. One has to follow the course of medicament that is prescribed.

Summary: No alternative treatment for Ivemark Syndrome has been discovered yet.

People with one or more symptoms are eligible for Ivemark Syndrome.

Individual who does not experience any discomfort identical to Ivemark Syndrome are not eligible for the treatment.

The treatment of Ivemark Syndrome goes for a lifetime, there is no end to it. So there is no post-treatment here, it only includes treatment guidelines.

Summary: Ivemark Syndrome, is a rare genetic disorder known for its damages caused to several body organs. Signs that can identify the disease are vague because its reason of occurrence is still unidentified. This also makes the infestation of the disease permanent in your body, making it hard for the doctor to look for any permanent solutions. But, there are many methods of treatment that can ease the damage caused by the genetic mutation.