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At a glance

Polymalformative syndrome associating complex cardiac anomalies, situs inversus, absent spleen, abnormal inclusions in red blood cells, and immunocompromised state. Many infants have symptoms associated with cyanosis, heart defects (Double Outlet Right Ventricle Syndrome, ventricular septal defect [VSD], atrial septal defects [ASD]), and signs of congestive heart failure. Ivemark Syndrome often causes life-threatening complications during infancy. Other features include sudden, severe pain (acute abdomen) due to frequent volvulus, intestinal and biliary atresia, and kidney abnormalities.

Synonyms

Asplenia Syndrome; Polhemus-Schafer-Ivemark Syndrome; Splenic Agenesis Syndrome; Asplenia with Cardiovascular Anomalies; Right Isomerism Sequence.

Incidence

According to the medical literature, Ivemark Syndrome affects boys more often than girls. The exact incidence for this medical condition is unknown. The incidence of laterality disorders taken together is estimated to be 1 in 15,000 people in the general population.

Genetic inheritance

Autosomal recessive; a few cases transmitted as an autosomal dominant trait, but most cases are sporadic. X-linked inheritance of heterotaxy syndromes is known.

Pathophysiology

Unknown. This is a disorder that involved laterality, ie, heterotaxy anomaly. Trisomy 9 associated in one case. Chromosomal anomalies, intrauterine infection, and environmental/toxic factors have been suggested as etiologic factors.

Diagnosis

Asplenia (or splenic hypoplasia) associated with congenital heart disease, renal dysplasia, hepatic dysplasia, pancreatic dysplasia, and abnormal lobar development of the lungs. Could be evocated before birth by ultrasonographic examination showing asplenia and lateralization anomalies.

Clinical aspects

Asplenia is combined with bilateral right-sided organs. There are two right lungs, two right lobes of the liver, two right atria, and bilateral superior vena cava. Various abnormal localizations of single organs are observed. This syndrome cannot be qualified as situs inversus. Clinical manifestations include sensibility to infection with encapsulated germs and presence of Heinz and Howell-Jolly bodies in the blood because of asplenia. Cardiac malformations (single ventricle, transposition of great vessels, truncus arteriosus, atrioventricular defect) are frequent with their own signs; arrhythmia as a result of the presence of two sinoatrial nodes is specific. Neurologic signs could be observed in relation with anophthalmia, holoprosencephaly, hydrocephalus, or meningocele. Hepatogastrointestinal structures can be abnormal and complicate evolution of the syndrome: biliary atresia or stenosis, hiatus hernia, megaesophagus or brachyesophagus, volvulus as a result of malrotation of the gut, and malformation of the pancreas. Up to 70% of patients die within the first year of life.

Precautions before anesthesia

History and examination define the associated anomalies. Cardiac assessment. Inquire about a history of cyanosis or systemic-to-pulmonary shunt formation. Electrocardiography (ECG) and echocardiography are mandatory. Angiography and cardiac catheterization as indicated clinically. Pulmonary assessment. Chest radiography to exclude infection and pulmonary edema. Preoperative blood gases in presence of cyanosis. Laboratory tests: check electrolyte levels and renal function, liver function, ...

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