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Clinical Imaging Feb 2022Deep venous thrombosis is a hitherto under-recognized complication occurring in patients with polysplenia syndrome, despite the high prevalence of venous anomalies such...
Deep venous thrombosis is a hitherto under-recognized complication occurring in patients with polysplenia syndrome, despite the high prevalence of venous anomalies such as interrupted inferior vena cava (IVC) with azygos/hemiazygos continuation. Here we report the first case of concurrent polysplenia (as evidenced by interrupted IVC with azygos/hemiazygos continuation, multiple left-sided spleens, bowel malrotation with inverted mesenteric veins, preduodenal portal vein, and pancreatic hypoplasia/partial agenesis of the dorsal pancreas) and sickle cell trait, complicated by extensive deep venous thrombosis refractory to medical and interventional radiologic management.
Topics: Heterotaxy Syndrome; Humans; Sickle Cell Trait; Thrombophilia; Vena Cava, Inferior; Venous Thrombosis
PubMed: 34813990
DOI: 10.1016/j.clinimag.2021.11.017 -
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 -
ASAIO Journal (American Society For... Sep 2021Heterotaxy refers to a congenital disorder in which there is a disruption of the normal left-right axis, resulting in duplication of one laterality, and can affect all...
Heterotaxy refers to a congenital disorder in which there is a disruption of the normal left-right axis, resulting in duplication of one laterality, and can affect all of the thoracic and abdominal organs. Findings include atrial isomerism, vascular abnormalities affecting the great vessels, ciliary dyskinesia, polysplenia or asplenia, biliary atresia, and gut malrotation. These anomalies can present unique challenges in the critical care setting, particularly in those requiring mechanical circulatory support. Here, we present a patient with acute respiratory distress syndrome requiring venovenous extracorporeal oxygenation which was complicated by a persistent impedance of flow. She was subsequently discovered to have an interrupted inferior vena cava, where lower limb venous drainage returned to the heart via the azygos and hemiazygos systems. We use this case to also highlight other manifestations of heterotaxy which may affect critical care.
Topics: Extracorporeal Membrane Oxygenation; Female; Heterotaxy Syndrome; Humans; Lung; Respiratory Distress Syndrome; Vena Cava, Inferior
PubMed: 33741788
DOI: 10.1097/MAT.0000000000001408 -
Radiology Case Reports May 2021Heterotaxy syndrome is a rare condition characterized by the abnormal arrangement of thoracoabdominal organs across the left-right axis of the body. It is generally...
Heterotaxy syndrome is a rare condition characterized by the abnormal arrangement of thoracoabdominal organs across the left-right axis of the body. It is generally classified as right and left atrial isomerism or asplenia and polysplenia syndrome, even though there are overlaps and uncertainties. The diagnosis of isomerism is typically made by echocardiography. However, multidetector computed tomography and MRI can help in obtaining detailed data on the morphology of the heart, great vessels, the anatomy of the internal organs, and their mutual arrangement that make an accurate diagnosis of heterotaxy syndrome. The authors present here the imaging findings of the heterotaxy polysplenia syndrome in a 21-year-old female with a complete endocardia cushion defect and a duplicated right renal vein.
PubMed: 33717387
DOI: 10.1016/j.radcr.2021.02.015 -
Journal of Arrhythmia Feb 2021As situs ambiguus can cause sinus bradycardia in young patients, the best timing for pacemaker implantation is controversial when the patient is a fertile female.
As situs ambiguus can cause sinus bradycardia in young patients, the best timing for pacemaker implantation is controversial when the patient is a fertile female.
PubMed: 33664913
DOI: 10.1002/joa3.12471