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The Pan African Medical Journal 2022Polysplenia syndrome mainly described in pediatrics; rarely and incidentally in adulthood. Most patients had their diagnosis done during childhood due to the frequent...
Polysplenia syndrome mainly described in pediatrics; rarely and incidentally in adulthood. Most patients had their diagnosis done during childhood due to the frequent association to cardiac anomalies that speak for themselves earlier in life. Multiple spleens, cardiac defect and vascular malformation of the inferior vena cava with azygos or hemiazygos continuation are the most frequent observed malformations. Our patient was one this rarest adulthood incidental diagnosis, who presented in the emergency department for nephritic colic, and while imaging for this, multiples spleens and other visceral malformations were diagnosed. Hopefully, cardiac ultrasound hadn't showed any cardiac malformation and the patient was discharged aware of this condition. Through this publication we report the possible incidental diagnosis of polysplenia condition and highlight the fact that people with such important malformation can lead a normal life, and only awareness should be given for future surgeries, instrumental treatment or else.
Topics: Adult; Child; Echocardiography; Heterotaxy Syndrome; Humans; Vena Cava, Inferior
PubMed: 35371381
DOI: 10.11604/pamj.2022.41.67.29014 -
Cureus Feb 2022Interrupted inferior vena cava (IVC) with azygos continuation is one of the anomalies of the inferior vena cava (AIVCs) where venous drainage of the lower extremities is...
Interrupted inferior vena cava (IVC) with azygos continuation is one of the anomalies of the inferior vena cava (AIVCs) where venous drainage of the lower extremities is accomplished through a dilated azygos system and is usually accompanied by other congenital malformations such as polysplenia. AIVCs are more common in patients younger than 40 presenting with deep venous thrombosis (DVT). However, pulmonary embolism (PE) in association with AIVCs remains underreported. In this article, we describe a rare case of a 23-year-old male who presented with syncope secondary to sub-massive pulmonary embolism in the setting of an interrupted vena cava draining directly into the azygous vein.
PubMed: 35317044
DOI: 10.7759/cureus.22323 -
Journal of Surgical Case Reports Feb 2022Situs inversus is described as exact mirroring of the normal anatomical arrangement of the major visceral organs. Polysplenia is a congenital anomaly associated with...
Situs inversus is described as exact mirroring of the normal anatomical arrangement of the major visceral organs. Polysplenia is a congenital anomaly associated with situs inversus and causes various splenic abnormalities. This case discusses a 62-year-old female who presented to the emergency department with hypotension and abdominal pain. Commuted tomography reveals situs inversus and a lobulated mass in the right upper quadrant consistent with a splenic rupture intraoperatively. This is the first reported case of a spontaneous splenic rupture in a patient with situs inversus. This case highlights the rarity of splenic injuries in situs inversus and the unique anatomical challenges that surgeons are faced with intraoperatively in a high-pressure environment.
PubMed: 35198143
DOI: 10.1093/jscr/rjac033 -
Journal of the Formosan Medical... Oct 2022Inferior vena cava (IVC) interruption is rare and can be detected through prenatal or postnatal imaging. It usually occurs in patients with heterotaxy syndrome with...
BACKGROUND/PURPOSE
Inferior vena cava (IVC) interruption is rare and can be detected through prenatal or postnatal imaging. It usually occurs in patients with heterotaxy syndrome with bilateral left-sidedness (left isomerism or polysplenia syndrome), indicating a laterality defect. However, its long-term outcomes remain unclear.
METHODS
This retrospective study included a patient cohort with evidence of IVC interruption based on imagining data (1980-2019) selected from our institutional database.
RESULTS
We included 34 (male/female = 14/20) patients with IVC interruption. Most of the patients had left isomerism of the bronchopulmonary situs (96.4%) and cardiac atrial situs (90.3%). Splenic anomalies, including polysplenia (35.7%), lobulated spleen (39.3%), inversus solitary spleen (10.7%), and asplenia (3.6%), were common. Normal cardiac structure was noted in four (11.8%) patients. Congenital heart disease (CHD) was noted in 30 patients: 7 with simple CHD and 23 with severe CHD. Bradycardia occurred in 47.1% of the patients and was not associated with CHD. Splenic variations were not associated with CHD or bradycardia. The survival rates for the 10-, 20-, and 40-year age groups were 0.880, 0.792, and 0.441, respectively; severe CHD was the only risk factor.
CONCLUSION
IVC interruption can present as an isolated lesion and be associated with CHD. Although bradycardia was common among the patients, CHD severity was the only risk factor for survival. Patients with IVC interruption commonly have left isomerism at the atrial and bronchopulmonary situs, but the spectrum of splenic abnormalities is wide, including polysplenia, lobulated spleen, solitary inversus spleen, and, rarely, asplenia.
Topics: Abnormalities, Multiple; Bradycardia; Female; Heart Defects, Congenital; Humans; Male; Pregnancy; Retrospective Studies; Vena Cava, Inferior
PubMed: 35135704
DOI: 10.1016/j.jfma.2022.01.021 -
Journal of Cardiac Surgery May 2022On the basis of previously published accounts, coupled with our own experience, we have assessed the surgical approaches to patients with isomeric atrial appendages. (Review)
Review
BACKGROUND AND AIM
On the basis of previously published accounts, coupled with our own experience, we have assessed the surgical approaches to patients with isomeric atrial appendages.
METHODS
We reviewed pertinent published studies on surgical treatment of individuals with isomeric atrial appendages, with the pertinent surgical details provided by most of the manuscripts.
RESULTS
Half of patients with right isomerism, and two-thirds of those with left isomerism have bilateral superior caval veins. Azygos extension of the inferior caval vein is reported in three-quarters of those with left isomerism. The coronary sinus is universally absent in right isomerism, along with totally anomalous pulmonary venous connection, and is absent in two-fifths of those with left isomerism. Univentricular atrioventricular connections are expected in up to three-quarters of those with right isomerism. Atrioventricular septal defect is reported in up to four-fifths, more frequently in right isomerism, with such patients typically having discordant ventriculoatrial connections or double outlet right ventricle. Reported mortalities extend to 85% for those with right, and 50% for those with left isomerism. In right isomerism, mortality is up to 54% for systemic-to-pulmonary arterial shunting, up to 75% for univentricular repair, and up to 95% for repair of totally anomalous pulmonary venous connection itself. No more than one-quarter had undergone Fontan completion, with reported mortalities of 21%.
CONCLUSION
Early surgical results are satisfactory in patients with left isomerism, but disappointing for those with right. Recent advances in cardiac and liver transplantation may offer improved survival.
Topics: Atrial Appendage; Heterotaxy Syndrome; Humans; Isomerism; Pulmonary Veins; Vena Cava, Superior
PubMed: 35122446
DOI: 10.1111/jocs.16268 -
Clinical Journal of Gastroenterology Apr 2022The present study aims to report a rare case of obstructive choledocholithiases found in an elderly female with heterotaxy syndrome (HS) with polysplenia, and to review... (Review)
Review
Cholangitis secondary to obstructive choledocholithiases in an elderly woman with heterotaxy syndrome with polysplenia: report of a case and brief review of the literature.
The present study aims to report a rare case of obstructive choledocholithiases found in an elderly female with heterotaxy syndrome (HS) with polysplenia, and to review the available literature on hepatobiliary pathologies associated with this syndrome. We present the case of an 82-year-old female patient with multiple comorbidities who presented to our hospital with abdominal pain and jaundice. An abdominal ultrasound and subsequent computed tomography showed several obstructive choledocholithiases. Incidentally, an abnormal visceral arrangement consistent with HS with polysplenia was observed, including midline liver, semi-annular pancreas, intestinal malrotation, preduodenal portal vein and other vascular anomalies. Accordingly, the patient was diagnosed with cholangitis secondary to obstructive choledocholithiases and HS with polysplenia. She was admitted to the hospital for endoscopic retrograde cholangiopancreatography after medical stabilization. Unfortunately, her condition rapidly worsened and died a few hours after hospitalization due to septic shock. Only one case of choledocholithiases in HS has been previously reported in the literature. It is unclear whether the abnormal arrangement of abdominal organs may have a significant role in the development of this complication. Although biliary drainage might be hindered in the presence of anatomical variants such as (semi-)annular pancreas, intestinal malrotation and preduodenal portal vein, further studies are needed to determine if there is an association between these anomalies and the development of choledocholithasis.
Topics: Aged; Aged, 80 and over; Cholangitis; Digestive System Abnormalities; Female; Heterotaxy Syndrome; Humans; Pancreas; Pancreatic Diseases
PubMed: 35066797
DOI: 10.1007/s12328-021-01574-5 -
Pediatric Cardiology Jun 2022Heterotaxy is a complex, multisystem disorder associated with single ventricle heart disease and decreased survival. Ciliary dysfunction is common in heterotaxy and...
Heterotaxy is a complex, multisystem disorder associated with single ventricle heart disease and decreased survival. Ciliary dysfunction is common in heterotaxy and other situs abnormalities (H/SA) and may increase post-operative complications. We hypothesized that patients with H/SA have increased respiratory and renal morbidities and increased in-hospital mortality after Fontan procedure. We queried the Pediatric Health Information System database for hospitalizations with ICD-9/10 codes for Fontan procedure in patients aged 1 through 11 years from 2004 to 2019. H/SA was identified by codes for dextrocardia, situs inversus, asplenia/polysplenia, or atrial isomerism and compared to non-H/SA controls. Outcomes were in-hospital mortality or heart transplantation, ECMO, hemodialysis, length of stay (LOS), and mechanical ventilation or vasoactive medication use ≥ 4 days. We adjusted estimates with multivariable logistic regression. Of 7897 patients at 50 centers, 1366 (17%) met criteria for H/SA. H/SA had worse outcomes for all study measures: death/transplantation (1.9 vs 1.1%, OR 1.74 (95% CI 1.01-3.03); p = 0.047), ECMO (3.7 vs 2.3%, OR 1.74 (1.28-2.35); p < 0.001), hemodialysis (2.1 vs 1.2%, OR 1.66 (1.06-2.59); p = 0.026), prolonged mechanical ventilation (13.2% vs 7.6%, OR 1.85 (1.53-2.25); p < 0.001) and vasoactive medication use (29.4 vs 19.7%, OR 1.65 (1.43-1.90), and longer LOS (11 (8-17) vs 9 (7-14) days; p < 0.001). H/SA is associated with increased cardiovascular, renal, and respiratory morbidity, as well as in-hospital mortality after Fontan procedure. Attention to renal and respiratory needs may improve outcomes in this difficult population. The relationship between ciliary dysfunction and lung and renal morbidity should be explored further.
Topics: Child; Fontan Procedure; Heart Defects, Congenital; Heterotaxy Syndrome; Humans; Morbidity; Situs Inversus; Treatment Outcome
PubMed: 35064275
DOI: 10.1007/s00246-021-02804-w -
Clinical Radiology May 2022Anomalies in number and location may occur during splenic development. This review aims to offer a brief overview of splenic function and embryology and a detailed... (Review)
Review
Anomalies in number and location may occur during splenic development. This review aims to offer a brief overview of splenic function and embryology and a detailed account of the imaging appearances using different imaging techniques of the normal spleen and various congenital splenic anomalies including (1) abnormal viscero-atrial situs, (2) splenogonadal fusion, (3) intrapancreatic accessory spleen, (4) wandering spleen, and (5) splenosis. Emphasis is placed on the salient features that help radiologists recognise important associations (e.g., asplenia/polysplenia in situs abnormalities), avoid diagnostic pitfalls (e.g., mistaking intrapancreatic accessory spleen as pancreatic neoplasms), and potential complications (e.g., acute torsion in wandering spleen). The correct identification of the said anomalies from more sinister causes, such as malignancies, are essential, where early intervention is necessary.
Topics: Heterotaxy Syndrome; Humans; Multimodal Imaging; Splenic Diseases; Wandering Spleen
PubMed: 35000764
DOI: 10.1016/j.crad.2021.12.014 -
European Heart Journal. Case Reports Dec 2021Pulmonary vein isolation (PVI) has entrenched itself as one of the main approaches for the treatment of paroxysmal symptomatic atrial fibrillation (AF). Pulmonary vein...
BACKGROUND
Pulmonary vein isolation (PVI) has entrenched itself as one of the main approaches for the treatment of paroxysmal symptomatic atrial fibrillation (AF). Pulmonary vein isolation prevents focal triggers from pulmonary veins from initiating AF paroxysms. As standard-PVI is performed through the inferior vena cava (IVC) approach, through the femoral vein. However, there are conditions when this approach is not appropriate or is not available.
CASE SUMMARY
We report a case of a 53-year-old male who was referred to Pauls Stradins Clinical University Hospital for PVI due to worsening AF. Due to the rare anatomical variant of the venous system, the standard approach to PVI could not be applied. Interrupted cava inferior did not allow for femoral vein and IVC access. We had to figure out a different path-a combination of internal jugular and subclavian veins was used. Transseptal puncture was performed under transoesophageal echocardiography (TOE) control with a puncture needle stiletto. Pulmonary veins were isolated successfully, no complications were observed, and the patient was discharged in sinus rhythm.
DISCUSSION
In some patients, PVI cannot be done through the standard IVC approach. In such cases, a different venous access must be chosen. Our patient had a rare variant of interrupted IVC and we had to use superior vena cava approach for the procedure. The difficulty of this approach is that procedure instruments are not designed for non-standard venous access; however, a combined use of TOE, general anaesthesia, and contact force-guided ablation has succeeded in isolating patients' pulmonary veins.
PubMed: 34909574
DOI: 10.1093/ehjcr/ytab480 -
Cureus Oct 2021Heterotaxy syndrome (HS) or situs ambiguous refers to the abnormal arrangement of viscera across the body axis, and abnormalities arise depending on the isomerism of...
Heterotaxy syndrome (HS) or situs ambiguous refers to the abnormal arrangement of viscera across the body axis, and abnormalities arise depending on the isomerism of the right or left atrial appendage. The cause remains unexplained and is attributed to a combination of genetic mutations and environmental factors. It is a rare condition and may remain undiagnosed for a long time. In this report, we aim to highlight an unusual presentation and aggravation of an infection due to the underlying isomerism of the left atrial appendage. We discuss the case of a female patient who presented with symptoms of fever and cough. The patient underwent prolonged antibiotic treatment, and her recovery was slow. The presence of bilobed lungs, vertical left-bronchus, and polysplenia on CT scan explained the left-sided aspiration pneumonia. The hypofunctioning spleen (polysplenia) caused her to have a weak immunological response, necessitating prolonged antibiotic use. She was followed up over time and had a recurrence of pneumonia within a few months. The condition is associated with high morbidity and mortality, and the role of early diagnosis and reporting to prevent complications is paramount. The recurrent pneumonia observed in the patient also raises questions related to long-term antibiotic use and immunization in the case of polysplenia in this patient population.
PubMed: 34858743
DOI: 10.7759/cureus.19055