Polymalformative syndrome associating complex cardiac
anomalies, situs inversus, absent spleen, abnormal inclusions in red blood
cells, and immunocompromised state.
Asplenia Syndrome; Polhemus-Schafer-Ivemark Syndrome;
Splenic Agenesis Syndrome.
Autosomal recessive; a few cases transmitted
as an autosomal dominant trait, but most cases are sporadic. X-linked
inheritance of heterotaxy syndromes is known.
Unknown. Disorder of the laterality
(i.e., heterotaxy anomaly). Trisomy 9
associated in one case. Chromosomal anomalies, intrauterine infection, and
environmental/toxic factors have been suggested as etiologic factors.
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
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.
History and examination define the
associated anomalies. Cardiac assessment. Inquire about a history of
cyanosis or systemic-to-pulmonary shunt formation.
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, coagulation status, and full blood count.
Cardiac and pulmonary function are the
main considerations. In the presence of systemic-to-pulmonary shunts, blood
pressure may vary in different limbs. Aim to maintain ratio of pulmonary
flow to systemic flow and prevent large decreases in pulmonary vascular
resistance or systemic vascular resistance (balanced anesthesia, minimum
fraction of inspired oxygen [FiO2], prevent hyperventilation). Maintain
preoperative arterial oxyhemoglobin saturation (SpO2). In the presence
of right-to-left shunting, maneuvers to decrease pulmonary vascular
resistance (hyperventilation, increased FiO2, positive end-expiratory
pressure) may be beneficial. Potential need for postoperative ventilation.
Caution with high-dose volatile
agents, myocardial depression, and decreased systemic vascular resistance.
Inotropic support may be necessary. Antibiotic prophylaxis for cardiopathy
Heterotaxy Syndromes (Defects of Laterality): X-linked syndromes
with laterality defects varying from situs inversus that is the complete
reversal of the normal anatomical distribution of viscera ...