What is Ivemark Syndrome?
Ivemark Syndrome is an extremely rare pathological condition affecting multiple organs of the body. Ivemark Syndrome is characterized by underdevelopment or in some cases complete absence of spleen, significant malformations of heart, and malformation in the way the organs of the body like the chest and abdomen are arranged within the body.
The symptoms of Ivemark Syndrome are quite variable and depend on the organ system that is involved. Many children tend to have congenital heart defects due to Ivemark Syndrome with them having bluish discoloration of the skin due to lack of oxygen in the blood, heart murmurs, and other signs of congestive heart failure such as shortness of breath.
Ivemark Syndrome tends to cause a number of complications some of which may be potentially life threatening. There is no real known cause of Ivemark Syndrome.
What are the Causes of Ivemark Syndrome?
As stated, the exact cause of Ivemark Syndrome is not known and most of the cases have been caused for reasons not known. Researchers are of the belief that various genetic and environmental factors are at play in the development of Ivemark Syndrome.
In some cases, Ivemark Syndrome has occurred in the members of the same family which may suggest that it may be an inherited condition. Anatomically speaking, during fetal development, the internal organs first develop and then they are placed either on the right or on the left side of the body.
In Ivemark Syndrome, this distribution does not take place resulting in malformed positions of the chest and abdomen. Researchers believe that certain gene mutations responsible for development of left-right asymmetry may be blamed for development of Ivemark Syndrome.
What are the Symptoms of Ivemark Syndrome?
The main symptoms of Ivemark Syndrome are due to misplaced and abnormal arrangement of some of the internal organs of the body, more specifically the chest and the abdomen. The liver is misplaced near the center of the body.
There is also abnormal positioning of the intestines and severe underdevelopment and even in some cases complete absence of the spleen. In Ivemark Syndrome, the left and right side of the heart and lungs are not clearly or distinctly defined as is under normal cases. This causes infants with Ivemark Syndrome to have several cardiac defects at birth.
The most common heart defect associated with Ivemark Syndrome is termed as double outlet right ventricle. In this, the aorta and the pulmonary artery both arise from the right ventricle instead of the left ventricle which should be the case.
As a result of these heart defects, there is bluish discoloration of the skin as a result of inadequate oxygen in the blood. There may also be presence of heart murmurs and other symptoms of congestive heart failure like shortness of breath and persistent fatigue.
Some of the complications caused by the heart defects as a result of Ivemark Syndrome can be potentially life threatening in infants. An underdeveloped or even complete absence of spleen is yet another symptom of Ivemark Syndrome. A missing or underdeveloped spleen may predispose the child to frequent infections including sepsis which may again be life threatening for the infant.
Additionally, some infants with Ivemark Syndrome complain of sudden severe acute pain in the abdomen as a result of malpositioned abdomen or intestinal malrotation. There may also be biliary atresia present in children with Ivemark Syndrome.
How is Ivemark Syndrome Diagnosed?
For a confirmed diagnosis of Ivemark Syndrome complete history of the patient will be taken and a thorough clinical evaluation will be done of the patient. The classic presenting features of Ivemark Syndrome can be identified by taking radiological studies of the abdomen which will show malpositioning of the internal organs of the abdomen.
Radiological studies may also reveal an underdeveloped spleen which is a hallmark of Ivemark Syndrome. An echocardiogram may detect any heart defect that may be present due to Ivemark Syndrome. A fetal ultrasound before the birth of the child, may indicate underdeveloped or absence of spleen and heart defects, which are the classic symptoms of this condition, and will confirm the diagnosis of Ivemark Syndrome.
How is Ivemark Syndrome Treated?
The mainstay of treatment of Ivemark Syndrome is symptomatic. The treatment will require a multidisciplinary effort from a team of pediatricians, cardiologists, pediatric gastroenterologists who will evaluate and form a treatment plan best suited for the child suffering from Ivemark Syndrome.
Affected children may require cardiac surgeries to correct some of the congenital heart defects. Children with Ivemark Syndrome will also need prophylactic antibiotic therapy to prevent them from infections as lack of a fully developed spleen will predispose them to frequent infections.
In case if a child has an infection then it needs to be treated aggressively with antibiotics and the immunization status of the child should also be up to date in cases of children with Ivemark Syndrome.
