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Journal of the College of Physicians... Aug 2022Interrupted inferior vena cava (IVC) is a rare disease, occurring either in isolation or in association with asplenia or polysplenia syndromes. Infrahepatic part of the...
Interrupted inferior vena cava (IVC) is a rare disease, occurring either in isolation or in association with asplenia or polysplenia syndromes. Infrahepatic part of the IVC is absent representing the failure of fusion of the vitelline and subcardinal embryological portions of the IVC. It is replaced by an enlarged azygos or hemiazygos vein continuing into the thorax, either into the superior vena cava or into the brachiocephalic veins. We present two cases of interrupted IVC, one occurring in isolation with hemiazygos continuation and discovered incidentally, and the second one is a child with azygos continuation, associated with polysplenia syndrome. Key Words: Inferior vena cava, Polysplenia, Azygous vein, Hemiazygos vein.
Topics: Azygos Vein; Child; Heart Defects, Congenital; Humans; Splenic Diseases; Vascular Malformations; Vena Cava, Inferior; Vena Cava, Superior
PubMed: 36210661
DOI: 10.29271/jcpsp.2022.Supp2.S101 -
Interventional Cardiology Clinics Jul 2024Congenital portosystemic shunts (CPSSs) are rare vascular anomalies characterized by abnormal connections between the portal/splanchnic veins and the systemic veins.... (Review)
Review
Congenital portosystemic shunts (CPSSs) are rare vascular anomalies characterized by abnormal connections between the portal/splanchnic veins and the systemic veins. CPSSs often occur as an isolated congenital anomaly, but they can also coexist with congenital heart disease (CHD). Owing to their myriad consequences on multiple organ systems, familiarity with CPSS is of tremendous importance to the care of patients with CHD. The rationale and timing for interventions to embolize CPSS in this scenario are discussed. Specific shunt embolization techniques are beyond the scope of this article.
Topics: Humans; Heart Defects, Congenital; Portal Vein; Vascular Malformations; Embolization, Therapeutic; Portal System
PubMed: 38839165
DOI: 10.1016/j.iccl.2024.03.006 -
Journal of Cardiovascular Development... Apr 2022Polysplenia syndrome represents a type of left atrial isomerism characterized by multiple small spleens, often associated with cardiac malformations and with of the...
A Rare Case of Polysplenia Syndrome Associated with Severe Cardiac Malformations and Congenital Alveolar Dysplasia in a One-Month-Old Infant: A Complete Macroscopic and Histopathologic Study.
Polysplenia syndrome represents a type of left atrial isomerism characterized by multiple small spleens, often associated with cardiac malformations and with of the abdominal organs. The case presented is of a one-month-old male infant, weighing approximately 3000 g, born at the County Clinical Emergency Hospital of Sibiu, who was hospitalized from birth until death. The patient suffered cardio-respiratory arrest due to severe hypoxia and septicemia on the background of a series of complex cardiac malformations associated with congenital abdominal organ anomalies. Examination of the body revealed a common atrium with complete atrioventricular canal defect, left ventricular hypertrophy, right ventricle hypoplasia, truncus arteriosus, superior vena cava duplication, bilobation of the lungs, situs ambiguous of the abdominal organs with right-sided stomach, a midline liver, gall bladder agenesis, multiple right-sided spleens and complete inversion of the intestines and pancreas. Histopathology concluded that the patient suffered cardiac lesions consistent with infantile lactic acidosis, as well as pulmonary modifications suggesting congenital alveolar dysplasia and altered hepatic architecture compatible with fibrosis.
PubMed: 35621846
DOI: 10.3390/jcdd9050135 -
Asian Journal of Surgery Nov 2017Some patients with biliary atresia (BA) have associated anomalies. Our study aimed to investigate the incidence of BA-associated malformations in mainland China, and... (Comparative Study)
Comparative Study
BACKGROUND
Some patients with biliary atresia (BA) have associated anomalies. Our study aimed to investigate the incidence of BA-associated malformations in mainland China, and compare the results with those reported in the Western literature.
METHODS
Clinical data were collected retrospectively from five medical centers in mainland China. BA patients were diagnosed and confirmed by laparotomy with intraoperative cholangiography and liver biopsy. Cases were divided into isolated type BA and BA with associated anomalies, including polysplenia, situs inversus, intestinal malrotation, and cardiovascular anomalies.
RESULTS
A total of 851 BA patients were recruited from Tianjin, Beijing, Wuhan, Guangzhou, and Shenzhen. Patients were grouped as follows: Type I, 13 cases (1.5%); Type II, five cases (0.6%); Type III, 833 cases (97.9%). Forty-two (4.94%) patients had 54 associated congenital abnormalities. The intra-abdominal anomalies included polysplenia (n = 4, 1 fusion between liver and spleen), situs inversus (n = 2), and intestinal malrotation (n = 3). The cardiovascular anomalies included atrial septal defect and ventricular septal defect (n = 29), patent foramen ovale (n = 1), patent ductus arteriosus (n = 4), and other cardiac malformations (n = 3, including coronary sinus dilation, left superior vena cava, Tetralogy of Fallot).
CONCLUSION
Our data showed that spleen anomaly is not as common as reported in the Western literature. The difference may suggests different genetic and environmental risk factors for BA.
Topics: Abnormalities, Multiple; Biliary Atresia; China; Cohort Studies; Female; Hospitals, Pediatric; Humans; Infant, Newborn; Male; Prevalence; Prognosis; Retrospective Studies; Risk Assessment; Sex Distribution
PubMed: 27210725
DOI: 10.1016/j.asjsur.2016.04.003 -
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 -
JA Clinical Reports 2018Heterotaxy syndrome (HS) is characterized by a wide variety of cardiac and extra-cardiac malformations, including pulmonary valve stenosis, interruption of the inferior...
BACKGROUND
Heterotaxy syndrome (HS) is characterized by a wide variety of cardiac and extra-cardiac malformations, including pulmonary valve stenosis, interruption of the inferior vena cava, total anomalous pulmonary venous connection (TAPVC), asplenia, polysplenia, intestinal malrotation, and preduodenal portal vein (PDPV). We report the case of a heterotaxic infant with an infracardiac TAPVC and preduodenal portal vein who experienced repetitive hemodynamic instability during urgent laparotomy for duodenal obstruction.
CASE PRESENTATION
A 3-day-old boy with HS was planned to undergo urgent laparotomy for duodenal atresia. Echocardiogram showed an interrupted inferior vena cava, single right ventricle, pulmonary valve stenosis, and infracardiac TAPVC. On exploratory laparotomy, intestinal malrotation characterized by Ladd's band was found. During further exploration, repetitive severe hypotension and hypoxia occurred. Thorough examination revealed a greatly dilated PDPV crossing over and compressing the proximal duodenum externally. Finally, we considered the possibility that surgical manipulation directly compressed the dilated PDPV into which the TAPVC had pulmonary venous drainage, leading to repetitive pulmonary venous obstruction (PVO). Computed tomography, which was examined after laparotomy, indicated that the vertical vein from pulmonary venous confluence drained into the portal vein.
CONCLUSION
PDPV is a rare anomaly associated with HS. In case of intestinal malrotation and duodenal obstruction in HS with infracardiac TAPVC, both the presence of PDPV and the possibility of pulmonary venous drainage into the PDPV should be considered by pediatric surgeons and anesthesiologists performing laparotomy to avoid catastrophic PVO.
PubMed: 29479560
DOI: 10.1186/s40981-018-0154-5 -
Cardiology in the Young Jan 2024A single common pulmonary vein is a rare anomaly, mostly occurring with asplenia. We wanted to report our case because it co-exists with polysplenia and ciliary...
A single common pulmonary vein is a rare anomaly, mostly occurring with asplenia. We wanted to report our case because it co-exists with polysplenia and ciliary dyskinesia.A baby girl about 2 months old with respiratory arrest was admitted to the emergency room of our hospital. She responded to pulmonary resuscitation. We ascertained from her medical history that she had been hospitalised twice because of recurrent lung infections. After the initial check and treatment, we applied imaging modalities to detect underlying problems of recurrent lung infection. Echocardiographic evaluation was suboptimal because of the widespread pulmonary infiltration. Still, we noticed a single common pulmonary vein without obstruction at the junction of the left atrium. Subsequently, a chest CT scan with contrast was performed. It revealed a single common pulmonary vein entering the left atrium with a single orifice, atrial septal defect, two lobes in both lungs, hepatic veins draining directly into the right atrium, and polysplenia. When the flow of a single common pulmonary vein goes directly to the right atrium through the defect, it may cause right heart dilatation as it did in our case. Therefore, patients may need to undergo surgery at an earlier age.
Topics: Infant; Female; Humans; Heterotaxy Syndrome; Pulmonary Veins; Heart Septal Defects, Atrial; Lung; Heart Atria
PubMed: 37946577
DOI: 10.1017/S1047951123003700 -
Abdominal Radiology (New York) Jul 2021Intestinal malrotation is largely a pediatric diagnosis, but initial detection can be made in adulthood. CT colonography (CTC) provides an ideal means for estimating...
OBJECTIVES
Intestinal malrotation is largely a pediatric diagnosis, but initial detection can be made in adulthood. CT colonography (CTC) provides an ideal means for estimating prevalence. Our purpose was to evaluate the prevalence and imaging findings of intestinal malrotation in asymptomatic adults at CTC screening, as well as incomplete optical colonoscopy (OC) referral.
METHODS
The CTC database of a single academic institution was searched for cases of intestinal malrotation (developmental nonrotation). Prevalence was estimated from 11,176 adults undergoing CTC. Demographic, clinical, imaging (CTC and other abdominal exams), and surgical data were reviewed.
RESULTS
27 cases of malrotation were confirmed (mean age 62 ± 9 years; 15 M/12F), including 17 from the CTC screening cohort (0.17% prevalence) and 10 from incomplete OC (0.75% prevalence; p < 0.001). Most cases (59%; 16/27) were initially diagnosed at CTC. In 67% (12/18); the presence of malrotation was missed on at least one relevant abdominal imaging examination. At least 22% (6/27) had a history of unexplained, chronic intermittent abdominal pain. At CTC, the SMA-SMV relationship was normal in only 11% (3/27). The ileocecal valve was located in the RLQ in only 22% (6/27). Two patients (7%) had associated findings of heterotaxy (polysplenia).
CONCLUSIONS
The prevalence of intestinal malrotation was four times greater for patients referred from incomplete OC compared with primary screening CTC, likely related to anatomic challenges at endoscopy. Malrotation was frequently missed at other abdominal imaging examinations. CTC can uncover unexpected cases of malrotation in adults, which may be relevant in terms of potential for future complications.
Topics: Adult; Aged; Child; Colonography, Computed Tomographic; Colonoscopy; Colorectal Neoplasms; Humans; Mass Screening; Middle Aged; Prevalence
PubMed: 33558953
DOI: 10.1007/s00261-021-02959-3 -
Pediatric Radiology Feb 2021We present a practical approach to imaging in suspected biliary atresia, an inflammatory cholangiopathy of infancy resulting in progressive fibrosis and obliteration of...
We present a practical approach to imaging in suspected biliary atresia, an inflammatory cholangiopathy of infancy resulting in progressive fibrosis and obliteration of extrahepatic and intrahepatic bile ducts. Left untreated or with failure of the Kasai procedure, biliary atresia progresses towards biliary cirrhosis, end-stage liver failure and death by age 3. Differentiation of biliary atresia from other nonsurgical causes of neonatal cholestasis is challenging because there is no single method for diagnosing biliary atresia, and clinical, laboratory and imaging features of this disease overlap with those of other causes of neonatal cholestasis. Concerning imaging, our systematic literature review shows that ultrasonography is the main tool for pre- and neonatal diagnosis. Key prenatal features, when present, are non-visualisation of the gallbladder, cyst in the liver hilum, heterotaxy syndrome and irregular gallbladder walls. Postnatal imaging features have a very high specificity when present, but a variable sensitivity. Triangular cord sign and abnormal gallbladder have the highest sensitivity and specificity. The presence of macro- or microcyst or polysplenia syndrome is highly specific but less sensitive. The diameter of the hepatic artery and hepatic subcapsular flow are less reliable. When present in the context of acholic stools, dilated intrahepatic bile ducts rule out biliary atresia. Importantly, a normal US exam does not rule out biliary atresia. Signs of chronic hepatopathy and portal hypertension (portosystemic derivations such as patent ductus venosus, recanalised umbilical vein, splenomegaly and ascites) should be actively identified for - but are not specific for - biliary atresia.
Topics: Biliary Atresia; Child, Preschool; Cholestasis; Female; Humans; Hypertension, Portal; Infant; Infant, Newborn; Magnetic Resonance Imaging; Pregnancy; Ultrasonography; Ultrasonography, Prenatal
PubMed: 33201318
DOI: 10.1007/s00247-020-04840-9 -
Clinical Journal of Gastroenterology Feb 2020A 27-year-old woman was admitted to our hospital due to a liver tumor. She had been born late at 41 weeks of gestation and had heterotaxy syndrome, polysplenia, and...
A 27-year-old woman was admitted to our hospital due to a liver tumor. She had been born late at 41 weeks of gestation and had heterotaxy syndrome, polysplenia, and complete transposition of the great arteries. She underwent percutaneous balloon angioplasty at 5 years of age and the Fontan procedure at 6 years of age. At 25 years of age, computed tomography detected liver congestion. Her alpha-fetoprotein level increased from 13 to 2098 ng/dL (L3 fraction 1.8%) at 27 years of age. Gadolinium ethoxybenzyl diethylenetriamine pentaacetic acid enhanced magnetic resonance imaging showed a 22-mm liver tumor in the second liver segment. The liver tumor was enhanced in the arterial phase and washed-out in the hepatobiliary phase; the patient was, therefore, diagnosed with hepatocellular carcinoma. Radiofrequency ablation and surgery were not indicated due to the proximity of the tumor to the inferior vena cava. Therefore, proton beam therapy was selected as conservative therapy, and a dose of 74 Gray equivalents in 37 fractions was administered at the University of Tsukuba Hospital. There were no severe adverse events and she survived for 38 months after treatment without recurrence.
Topics: Adult; Carcinoma, Hepatocellular; Female; Fontan Procedure; Heterotaxy Syndrome; Humans; Liver Diseases; Liver Neoplasms; Magnetic Resonance Imaging; Postoperative Complications; Proton Therapy; Tomography, X-Ray Computed; Transposition of Great Vessels
PubMed: 31273674
DOI: 10.1007/s12328-019-01010-9