Polysplenia syndrome: a review of the relationship with viscero-atrial situs and the spectrum of extra-cardiac anomalies

Abstract

Polysplenia syndrome is classified as one of the situs ambiguous or heterotaxy syndromes and is classically termed left isomerism or bilateral left-sidedness. However, polysplenia is a controversial and complex entity with no fixed pathognomonic features but rather a broad spectrum of abnormalities. In many published case series, polysplenia was neither associated with viscero-atrial heterotaxy nor with duplication of left-sided structures. The relationship between polysplenia and viscero-atrial situs is not clear. Several recent case reports describe the association of polysplenia with situs inversus totalis or with pancreatic; venous and other anomalies or with several types of malignancy. This article provides the reader with a review of the literature as well as our own experience aiming at better understanding of the polysplenia syndrome, its relationship with viscero-atrial situs and the spectrum of associated extra-cardiac anomalies.

Coincidence of Polysplenia, Kartagener Syndrome, Dorsal Pancreas Agenesis, and Polycystic Kidney Disease in an Adult

“…Generally, polysplenia includes one or two large spleens and several smaller ones with diameters of 1-6 cm. Several recent case reports describe the coincidence of situs inversus totalis (SIT) and polysplenia as rare [2,11,12]. Furthermore, the association of KS and ADPKD with polysplenia in an adult patient has never been reported yet.…”

“…There are multiple small accessory spleens, rather than a single, full-sized, normal spleen in polysplenia. Polysplenia may be associated with situs solitus, heterotaxy syndrome, or SIT [1,2]. Polysplenia may sometimes occur together with dorsal pancreas agenesis or truncated/short pancreas and patients may also present with diabetes, pancreatitis, or obstructive jaundice [3, 4].…”

A Rare Case of Polysplenia Syndrome and Congenital Cloaca with Symptomatic Intestinal Non-rotation in an Adult Patient

“…The combination of IVC interruption with azyguous continuation, right-sided stomach and short pancreas has often been described in literature [1,5,6]. The presence of a bicornuated uterus and diaphragmatic hernia in patients with polysplenia syndrome is rare and only a few cases have been described [2, [11][12][13][14].…”

“…In some polysplenia patients, the presence of multiple spleens is the only anomaly [5,6]. Examples of abdominal heterotaxy, besides polysplenia, are an interruption of the inferior vena cava (IVC) with azygous continuation, short pancreas, intestinal malrotation and a preduodenal portal vein [1]. Although the etiology of this syndrome is poorly understood, several genes associated with left-right embryological development.…”

“…Since there are many ways in which organs may be arranged, the clinical presentation of a heterotaxy syndrome can vary between patients. Heterotaxy can be further subdivided in an asplenia and polysplenia syndrome [1][2][3].…”