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Ivemark Syndrome

What is Ivemark syndrome?

Ivemark syndrome is a rare disorder that affects multiple organ systems in the body, but the disease is characterized by the absence or underdevelopment of the spleen, heart malformations, and the abnormal arrangement (heterotaxy) of the internal organs in the chest and abdomen. Besides being a type of heterotaxy disorder, Ivemark syndrome is also sometimes described as a laterality disorder, in which a right isomerism sequence is present (when the left side of the body is identical to the right). Due to the severity of these hallmark features, Ivemark syndrome often causes life-threatening complications during infancy.

What causes Ivemark syndrome?

The exact cause of Ivemark syndrome is still largely unknown, and unlike other heterotaxy disorders, causative gene mutations have not yet been discovered. Most cases of the condition are sporadic, so scientists believe that multiple factors, both genetic and environmental, play a role in the failure to establish left-right symmetry in the body and the ultimate development of the disorder.

What are the symptoms of Ivemark syndrome?

The specific symptoms of Ivemark syndrome can vary greatly depending on the specific abnormalities that are present, but many infants show the following signs and symptoms:
  • Bluish discoloration to the skin
  • Heart murmurs and other heart defects, such as holes in the membrane that separates the chambers of the heart or a reversal of the aorta and the pulmonary artery
  • Signs of congestive heart failure, such as shortness of breath, fatigue, swollen legs, and a rapid heartbeat
  • Repeated infections, including infection of the blood
  • Sudden, severe pain in the abdomen
  • Narrowing of the bile ducts
  • Kidney abnormalities

How is Ivemark syndrome diagnosed?

Ivemark syndrome is diagnosed using a thorough clinical evaluation and a positive identification of the characteristic symptoms of the disorder. Usually, Ivemark syndrome can even be detected in babies before birth using a fetal ultrasound. This ultrasound can create a picture of the developing fetus and detect the specific associated physical abnormalities. After birth, a variety of specialized tests can be used to help confirm a diagnosis. These tests can include the following:
  • Blood samples to detect the presence of Howell-Jolly bodies, which are fragments of DNA that can be found in red blood cells that indicate problems with the function of, or lack of, the spleen
  • Echocardiogram to confirm the presence of and severity of heart defects

What are the available treatments for Ivemark syndrome?

Treatment for Ivemark syndrome includes surgical repair of heart malformations and prophylactic antibiotic therapy to reduce the rate of infection due to the absence of or poor function of the spleen.

Where can I find more information on Ivemark syndrome?

Ivemark Syndrome Articles