Asplenia syndrome
Disclosures
- updated 14 May 2023:
Nothing to disclose
Updates to Article Attributes
Body
was changed:
Asplenia syndrome, also known as right isomerism or Ivemark syndrome, is a type of heterotaxy syndrome.
Epidemiology
There is an increased male predilection. Asplenia syndrome is usually diagnosed in neonates 4.
Associations
-
severe/complex congenital heart disease (50%), especially cyanotic congenital cardiac anomalies
-
gastrointestinal
intestinal malrotation (up to 100% in small series) 3
-
genitourinary
-
vascular
absent coronary sinus
juxtaposition of the IVC in front (usually) of the abdominal aorta (piggyback configuration)
Clinical presentation
In contrast to polysplenia syndrome, most patients die before 1-year-old because of severe/complex congenital heart disease. Most patients are immunocompromised due to absent spleen.
Pathology
Howell-Jolly and Heinz bodies are seen on H&E blood smear 6.
Radiographic features
General
Main characteristic radiographic features include:
bilateral eparterial bronchi
bilateral trilobed lungs
bilateral right atria
transverse liver
Management and prognosis
It carries poor prognosis than left isomerism (polysplenia syndrome) as it has more association with congenital heart diseases. 1-year mortality is approximately 85% with right isomerism and more than 50% with polysplenia syndrome 7.
See also
asplenia: not to be confused with asplenia syndrome
-<li>severe/complex <a href="/articles/congenital-cardiovascular-anomalies">congenital heart disease</a> (50%), especially <a href="/articles/cyanotic-congenital-heart-disease">cyanotic congenital cardiac anomalies</a><ul>-<a href="/articles/total-anomalous-pulmonary-venous-return">total anomalous pulmonary venous return</a> (almost 100%)</li>-<li>-<a href="/articles/atrioventricular-septal-defect">endocardial cushion defect</a> (85%)</li>-<li>-<a href="/articles/transposition-of-the-great-arteries">transposition of the great arteries</a> (72%)</li>-<li>-<a href="/articles/single-ventricle">single ventricle</a> (51%)</li>-<li><a title="Double outlet right ventricle" href="/articles/double-outlet-right-ventricle">double outlet right ventricle (DORV)</a></li>- +<p>severe/complex <a href="/articles/congenital-cardiovascular-anomalies">congenital heart disease</a> (50%), especially <a href="/articles/cyanotic-congenital-heart-disease">cyanotic congenital cardiac anomalies</a></p>
- +<ul>
- +<li><p><a href="/articles/total-anomalous-pulmonary-venous-return">total anomalous pulmonary venous return</a> (almost 100%)</p></li>
- +<li><p><a href="/articles/atrioventricular-septal-defect">endocardial cushion defect</a> (85%)</p></li>
- +<li><p><a href="/articles/transposition-of-the-great-arteries">transposition of the great arteries</a> (72%)</p></li>
- +<li><p><a href="/articles/single-ventricle">single ventricle</a> (51%)</p></li>
- +<li><p><a href="/articles/double-outlet-right-ventricle" title="Double outlet right ventricle">double outlet right ventricle (DORV)</a></p></li>
-<li>gastrointestinal<ul>-<li><a href="/articles/gallbladder-agenesis">gallbladder agenesis</a></li>-<li>intestinal <a href="/articles/intestinal-malrotation">malrotation</a> (up to 100% in small series) <sup>3</sup>-</li>-<li><a href="/articles/microgastria">microgastria</a></li>-<li><a href="/articles/imperforate-anus">imperforate anus</a></li>- +<li>
- +<p>gastrointestinal</p>
- +<ul>
- +<li><p><a href="/articles/gallbladder-agenesis">gallbladder agenesis</a></p></li>
- +<li><p>intestinal <a href="/articles/intestinal-malrotation">malrotation</a> (up to 100% in small series) <sup>3</sup></p></li>
- +<li><p><a href="/articles/microgastria">microgastria</a></p></li>
- +<li><p><a href="/articles/imperforate-anus">imperforate anus</a></p></li>
-<li>genitourinary<ul>-<li><a href="/articles/horseshoe-kidney">horseshoe kidney</a></li>-<a title="Fused adrenal gland" href="/articles/horseshoe-adrenal-gland">fused</a> / <a href="/articles/horseshoe-adrenal-gland">horseshoe adrenal gland</a> or absent left adrenal gland</li>-<li><a href="/articles/bicornuate-uterus">bicornuate uterus</a></li>-<li><a href="/articles/bilobed-urinary-bladder">bilobed urinary bladder</a></li>- +<p>genitourinary</p>
- +<ul>
- +<li><p><a href="/articles/horseshoe-kidney">horseshoe kidney</a></p></li>
- +<li><p><a href="/articles/horseshoe-adrenal-gland" title="Fused adrenal gland">fused</a> / <a href="/articles/horseshoe-adrenal-gland">horseshoe adrenal gland</a> or absent left adrenal gland</p></li>
- +<li><p><a href="/articles/bicornuate-uterus">bicornuate uterus</a></p></li>
- +<li><p><a href="/articles/bilobed-urinary-bladder">bilobed urinary bladder</a></p></li>
-<li>vascular<ul>-<li><a href="/articles/superior-vena-caval-duplication">duplication of the superior vena cava</a></li>-<li>absent <a href="/articles/coronary-sinus">coronary sinus</a>-</li>-<li>juxtaposition of the <a href="/articles/inferior-vena-cava-1">IVC</a> in front (usually) of the <a href="/articles/abdominal-aorta-1">abdominal aorta</a> (piggyback configuration)</li>- +<li>
- +<p>vascular</p>
- +<ul>
- +<li><p><a href="/articles/superior-vena-caval-duplication">duplication of the superior vena cava</a></p></li>
- +<li><p>absent <a href="/articles/coronary-sinus">coronary sinus</a></p></li>
- +<li><p>juxtaposition of the <a href="/articles/inferior-vena-cava-1">IVC</a> in front (usually) of the <a href="/articles/abdominal-aorta-1">abdominal aorta</a> (piggyback configuration)</p></li>
-</ul><h4>Clinical presentation</h4><p>In contrast to <a href="/articles/polysplenia-syndrome-1">polysplenia syndrome</a>, most patients die before 1-year-old because of severe/complex congenital heart disease. Most patients are immunocompromised due to <a href="/articles/asplenia">absent spleen</a>.</p><h4>Pathology</h4><p><a title="Howell-Jolly" href="/articles/howell-jolly">Howell-Jolly</a> and <a title="Heinz bodies" href="/articles/heinz-bodies">Heinz bodies</a> are seen on H&E blood smear <sup>6</sup>.</p><h4>Radiographic features</h4><h5>General</h5><p>Main characteristic radiographic features include:</p><ul>-<li><a href="/articles/asplenia">absence of spleen</a></li>-<li>bilateral <a href="/articles/eparterial-bronchus">eparterial bronchi</a>-</li>-<li>bilateral <a title="trilobed lung" href="/articles/trilobed-lung">trilobed lungs</a>-</li>-<li>bilateral <a href="/articles/right-atria">right atria</a>-</li>-<li>transverse liver</li>-</ul><h4>See also</h4><ul>-<li><a href="/articles/polysplenia-syndrome-1">polysplenia syndrome</a></li>-<li><a href="/articles/heterotaxy-syndrome">heterotaxy syndrome</a></li>-<li><a href="/articles/isomerism">isomerism</a></li>-<li>-<a href="/articles/asplenia">asplenia</a>: not to be confused with asplenia syndrome</li>- +</ul><h4>Clinical presentation</h4><p>In contrast to <a href="/articles/polysplenia-syndrome-1">polysplenia syndrome</a>, most patients die before 1-year-old because of severe/complex congenital heart disease. Most patients are immunocompromised due to <a href="/articles/asplenia">absent spleen</a>.</p><h4>Pathology</h4><p><a href="/articles/howell-jolly" title="Howell-Jolly">Howell-Jolly</a> and <a href="/articles/heinz-bodies" title="Heinz bodies">Heinz bodies</a> are seen on H&E blood smear <sup>6</sup>.</p><h4>Radiographic features</h4><h5>General</h5><p>Main characteristic radiographic features include:</p><ul>
- +<li><p><a href="/articles/asplenia">absence of spleen</a></p></li>
- +<li><p>bilateral <a href="/articles/eparterial-bronchus">eparterial bronchi</a></p></li>
- +<li><p>bilateral <a href="/articles/trilobed-lung" title="trilobed lung">trilobed lungs</a></p></li>
- +<li><p>bilateral <a href="/articles/right-atria">right atria</a></p></li>
- +<li><p>transverse liver</p></li>
- +</ul><h4>Management and prognosis</h4><p>It carries poor prognosis than left isomerism (polysplenia syndrome) as it has more association with congenital heart diseases. 1-year mortality is approximately 85% with right isomerism and more than 50% with polysplenia syndrome <sup>7</sup>.</p><h4>See also</h4><ul>
- +<li><p><a href="/articles/polysplenia-syndrome-1">polysplenia syndrome</a></p></li>
- +<li><p><a href="/articles/heterotaxy-syndrome">heterotaxy syndrome</a></p></li>
- +<li><p><a href="/articles/isomerism">isomerism</a></p></li>
- +<li><p><a href="/articles/asplenia">asplenia</a>: not to be confused with asplenia syndrome</p></li>
References changed:
- 7. Kim S. Heterotaxy Syndrome. Korean Circ J. 2011;41(5):227. <a href="https://doi.org/10.4070/kcj.2011.41.5.227">doi:10.4070/kcj.2011.41.5.227</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/21731561">Pubmed</a>
Unable to process the form. Check for errors and try again.