Heterotaxy Polysplenia Syndrome in Adulthood: Focused Review and a Case Report

Abstract

Heterotaxy syndrome (Situs ambiguus) is a condition in which the internal organs are abnormally arranged in the chest and abdomen. Individuals with this condition have complex birth defects affecting the heart, lungs, liver, spleen, intestines, and other organs. Unlike situs inversus, it often causes serious health problems. This report describes a case of a 49-year-old Hispanic female with a significant medical history of situs ambiguous diagnosed at birth in Cuba. She has had little to no follow-up in adulthood due to being "healthy." She presented to the emergency room with intractable pain in the left lower quadrant and left flank for two days. Heterotaxy syndrome was found incidentally on CT scan of the abdomen/pelvis (plain). She was further evaluated with chest X-ray, magnetic resonance imaging of abdomen/pelvis without and with contrast, transvaginal ultrasonography, renal/bladder ultrasonography, left upper quadrant (LUQ) ultrasonography, esophagogastroduodenoscopy (EGD) with biopsy, 2D echocardiogram, and pertinent laboratory tests. Certain unusual findings included azygos continuation of the inferior vena cava (IVC), numerous spleens, atrophic pancreas, dilatation of duodenal C sweep, pelvic mass (possibly arising from right ovary), multiple nabothian cysts, and cardiac dysfunctions (such as severe mitral regurgitation). This report further aims to identify anatomic variants, previously established or otherwise not, in heterotaxy syndrome. Also, there seems to be a lack of identifiable anomalies or associations in regard to female anatomy, particular to this case being the female pelvic anatomy. As previous reports and research have stated, identification of anomalies in this syndrome is key for adequate and optimal management.

Asymptomatic left isomerism with preduodenal portal vein: computed tomography appearance

“…LI and RI are the main variants of HS. Unlike situs abnormalities leading to ordinary or reverse lateralization, isomerism is accompanied by an atypical anatomy with symmetrisation of the organs supposed to be lateralized or even duplication of organs in certain circumstances [ 2 , 5 , 6 ].…”

“…The normal final positioning refers to situs solitus (with thoracic levocardia) and the complete mirror-image arrangement refers to situs inversus, a rare but commonly asymptomatic situation [ 6 ].…”

“…Situs ambiguous , more commonly also named heterotaxia refers to anatomic arrangements in which the major organs are distributed abnormally within the chest and/or abdomen [ 2 , 5 , 6 ]. This kind of variation may be isolated or associated with an extensive collection of complex thoracic and/or abdominal anomalies [ 6 ]. The prevalence of HS is estimated to be 1 in 10,000 people worldwide but the condition appears probably largely underdiagnosed.…”

“…The prevalence of HS is estimated to be 1 in 10,000 people worldwide but the condition appears probably largely underdiagnosed. There are two main variants of heterotaxia : left isomerism (LI) also known as polysplenia or bilateral left sidedness and right isomerism (RI) also known as asplenia or bilateral right sidedness [ 2 , 5 , 6 ].…”

“…HS may be life threatening in infancy or childhood in a high proportion of cases. This is essentially due to severe cardiac abnormalities particularly in the RI variant [ 6 ]. Rare individual adults, especially having an LI, may nevertheless present only mild health disturbances or may be completely asymptomatic.…”