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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 -
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 -
Frontiers in Medicine 2021Laterality defects (LDs) or asymmetrically positioned organs are a group of rare developmental disorders caused by environmental and/or genetic factors. However, the...
Laterality defects (LDs) or asymmetrically positioned organs are a group of rare developmental disorders caused by environmental and/or genetic factors. However, the exact molecular pathophysiology of LD is not yet fully characterised. In this context, studying Arab population presents an ideal opportunity to discover the novel molecular basis of diseases owing to the high rate of consanguinity and genetic disorders. Therefore, in the present study, we studied the molecular basis of LD in Arab patients, using next-generation sequencing method. We discovered an extremely rare novel missense variant in gene (Pro765Ser) presenting with visceral heterotaxy and left isomerism with polysplenia syndrome. The proband in this index family has inherited this homozygous variant from her heterozygous parents following the autosomal recessive pattern. This is the first report to show genetic variant causing left-right axis defects in humans, besides previous known evidence from zebrafish, frog and models. Moreover, our multilevel bioinformatics-based structural (protein variant structural modelling, divergence, and stability) analysis has suggested that Ser765 causes minor structural drifts and stability changes, potentially affecting the biophysical and functional properties of protein like calmodulin binding and microfilament motor activities. Functional bioinformatics analysis has shown that is ubiquitously expressed across several human tissues and is reported to induce severe phenotypes in knockout mouse models. In conclusion, our findings show the expanded genetic spectrum of LD, which could potentially pave way for the novel drug target identification and development of personalised medicine for high-risk families.
PubMed: 34589502
DOI: 10.3389/fmed.2021.724826 -
European Heart Journal. Case Reports Aug 2021Femoral cannulation is commonly used in minimally invasive cardiac surgery to establish extracorporeal circulation. We present a case with a finding that should be...
BACKGROUND
Femoral cannulation is commonly used in minimally invasive cardiac surgery to establish extracorporeal circulation. We present a case with a finding that should be evaluated when screening candidates for minimally invasive cardiac surgery.
CASE SUMMARY
A 57-year-old male patient was scheduled for minimally invasive repair of the mitral and tricuspid valve and a MAZE procedure. During surgery there was difficulty advancing the venous cannula inserted in the right femoral vein. On transoesophageal echocardiography a guidewire advanced from the femoral vein was observed entering the right atrium from the superior vena cava. Despite inserting a second venous cannula in the jugular vein, venous drainage was insufficient for minimal invasive surgery. The approach was converted to a median sternotomy with bicaval cannulation. Re-examination of the preoperative computed tomography (CT) scan showed an interrupted inferior vena cava (IVC) with azygos continuation.
DISCUSSION
In patients with major venous malformations such as the interrupted IVC with azygos continuation a full sternotomy is the preferred approach. The venous system should be evaluated when screening candidates for minimally invasive mitral valve surgery with preoperative CT. Additional cues to suspect interruption of the IVC are polysplenia and a broad superior mediastinal projection on the chest radiograph, mimicking a right paratracheal mass.
PubMed: 34514303
DOI: 10.1093/ehjcr/ytab308 -
Clinical Case Reports Aug 2021Heterotaxy syndrome is associated with asplenia/polysplenia and complex congenital heart disease. Facial palsy in heterotaxy is very rare. The management is still...
Heterotaxy syndrome is associated with asplenia/polysplenia and complex congenital heart disease. Facial palsy in heterotaxy is very rare. The management is still challenging with a poor prognosis. Proper counseling to the family about the disease course, treatment modalities, and outcomes is essential.
PubMed: 34401157
DOI: 10.1002/ccr3.4573 -
Cureus Apr 2021Heterotaxy syndrome implies a discordance between placement of thoracic organs with respect to abdominal organs. A large number of these have associated congenital heart...
Heterotaxy syndrome implies a discordance between placement of thoracic organs with respect to abdominal organs. A large number of these have associated congenital heart defects. This syndrome is unique as every patient is different and can have any permutation and combination of symptoms. In our case, the five-year-old male child presented with complaints of abdominal distension, fever, and bluish discoloration of limbs with even mild exertion. Radiological evaluation was diagnosed with a large atrial septal defect, cardiomegaly, partial pulmonary venous circulation, multiple small spleens on the right side of body, a large midline liver, malrotated bowel, inferiorly displaced kidneys, and two hemiazygos veins. The echocardiography and electrocardiogram too were consistent with atrial septal defect and right ventricular strain pattern. The reasons for this highly variable pattern are rooted in the genetically complicated process of lateralization with a strong link to the copy number variations. Due to the variable patterns, it is more efficient to report all the findings utilizing a step-by-step process of commenting on each and every individual organ, instead of classifying them under different categories based on atrial isomerism. This is important as any other way of classification predisposes to a certain bias.
PubMed: 34094731
DOI: 10.7759/cureus.14766 -
Annals of Hepato-biliary-pancreatic... May 2021We present a case of third retransplantation using a whole liver graft in a 13-year-old girl who suffered graft failure and hepatopulmonary syndrome following split...
Third retransplantation using a whole liver graft for late graft failure from hepatic vein stent stenosis in a pediatric patient who underwent split liver retransplantation.
We present a case of third retransplantation using a whole liver graft in a 13-year-old girl who suffered graft failure and hepatopulmonary syndrome following split liver retransplantation with endovascular stenting of the hepatic and portal veins as an infant. She was diagnosed with biliary atresia-polysplenia syndrome, and thus underwent living donor liver transplantation from her mother at 9 months of age. The first liver graft failed due to stenosis of the portal vein. She underwent the second liver transplantation with a split left lateral section graft. Endovascular stenting was performed to the portal vein stenosis 2 months and hepatic vein stenosis 9 months after transplantation. During the next 9 years, 11 sessions of balloon angioplasty for hepatic vein stent stenosis were performed. Ten years after the second transplantation, she underwent third transplantation using a whole liver graft recovered from a 12-year-old-girl. The double inferior vena cava technique was used for outflow vein reconstruction. The graft portal vein was anastomosed with the stent-containing portal vein stump because it was not possible to remove the stent and the inner diameter of the portal vein stent was large enough. An aorto-hepatic jump graft was used for arterial reconstruction. The patient recovered slowly and is doing well for 6 months posttransplant. In conclusion, because stenting of the hepatic vein or portal vein can induce graft failure leading to late retransplantation, we emphasize secure vascular reconstruction to prevent endovascular stenting during LT in infants.
PubMed: 34053936
DOI: 10.14701/ahbps.2021.25.2.299 -
Surgical and Radiologic Anatomy : SRA Sep 2021Left isomerism (polysplenia), one of the two major variants of heterotaxia with right isomerism (asplenia), may be rarely diagnosed in adulthood. Most cases are...
Left isomerism (polysplenia), one of the two major variants of heterotaxia with right isomerism (asplenia), may be rarely diagnosed in adulthood. Most cases are nevertheless asymptomatic and incidentally detected during imaging or surgery performed for unrelated conditions. We hereby report a case of left isomerism fortuitously diagnosed in a 55-year-old man with unrelated tachy-cardiomyopathy. Thoraco-abdominal computed tomography revealed a typical preduodenal portal vein (PDPV) associated with a large series of other occult anatomic variations comprising: polysplenia, agenesis of both pancreatic body and tail, complete non-rotation of the bowel and finally azygous continuation of the inferior vena cava. Subtle but highly specific thoracic features of left isomerism were also found with a bilobed right lung and bilateral long hyparterial main bronchi. The features of adult left isomerism are remembered with special attention to the PDPV.
Topics: Abnormalities, Multiple; Cecum; Humans; Lung; Middle Aged; Pancreas; Portal Vein; Spleen; Tomography, X-Ray Computed
PubMed: 33847774
DOI: 10.1007/s00276-021-02747-0