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Radiology Case Reports Oct 2022We present a rare case of pelvic splenosis, in a 46-year-old man, with a previous history of partial splenectomy, complaining of nonspecific pain in the lower abdominal...
We present a rare case of pelvic splenosis, in a 46-year-old man, with a previous history of partial splenectomy, complaining of nonspecific pain in the lower abdominal quadrants. Splenosis is a benign acquired condition, defined as a heterotopic autotransplantation of splenic tissue in other compartments of the body, caused by rupture of the splenic capsule following trauma or splenectomy. Splenosis is often asymptomatic and incidentally found and does not require treatment. Surgery is indicated only in patients presenting with symptoms or complications. In our case, the multimodal imaging study (ultrasound, MRI, CT, and scintigraphy) allowed a correct differential diagnosis without resorting to invasive procedures, susceptible to complications.
PubMed: 35923337
DOI: 10.1016/j.radcr.2022.06.096 -
Journal of the Belgian Society of... 2022A rare case of spontaneous splenic infarction with polysplenia is presented. The diagnosis was made by confirmed by enhanced computed tomography (CT), which showed...
A rare case of spontaneous splenic infarction with polysplenia is presented. The diagnosis was made by confirmed by enhanced computed tomography (CT), which showed multiple spleens in the left abdomen and one of the spleen showing low attenuation areas representing infarct. Polysplenia syndrome is a rare entity associated with heterotaxy syndromes. Radiological examinations help the diagnosis by identifying infarcts in the spleen and other abnormal organs in the chest and abdomen. We report a rare case of polysplenic syndrome with splenic infarction.
PubMed: 35814278
DOI: 10.5334/jbsr.2685 -
World Journal For Pediatric &... Jul 2022Patients with heterotaxy syndromes (right and left atrial isomerism) are at high risk of poor outcomes after single-ventricle palliation. However, the long-term outcomes...
BACKGROUND
Patients with heterotaxy syndromes (right and left atrial isomerism) are at high risk of poor outcomes after single-ventricle palliation. However, the long-term outcomes and specific parameters associated with poor outcomes are incompletely understood.
METHODS
A retrospective review was performed of all patients with atrial isomerism who had a Fontan at our institution from 1973 to 2020. Standard demographic, as well as pre-, peri-, and postoperative parameters were collected. Features and outcomes of patients with polysplenia were compared to asplenia. Outcomes were analyzed for effect during 4 eras: (1: 1973-1984; n = 27), (2: 1985-1994; n = 93), (3: 1995-2004; n = 28), and (4: 2005-2020; n = 10).
RESULTS
Of the 1176 patients who had a Fontan operation, 158 (14%) had a heterotaxy syndrome. The median age at the time of Fontan was 8 (9) years. Early mortality was 20% and was greater in patients with asplenia compared to polysplenia (27% vs. 12%, = .019). But it substantially improved over time (61% in era 1 vs. 7%-10% in the more recent eras ( < .001)), as did transplant-free survival (22% at 10 years in era 1 vs. 88% in era 4, < .001). Transplant-free survival was significantly lower in patients with asplenia versus those with polysplenia ( = .014), and patients with heterotaxy had lower survival than nonheterotaxy ( = .01). This was largely due to the asplenia group ( < .001) (hazard ratio = 3.05, = .007).
CONCLUSIONS
After Fontan operation, patients with heterotaxy, particularly asplenia, continue to demonstrate worse transplant-free survival than nonheterotaxy patients. Early mortality and long-term transplant-free survival have improved in more recent eras.
Topics: Cardiovascular Abnormalities; Fontan Procedure; Heart Defects, Congenital; Heterotaxy Syndrome; Humans; Retrospective Studies; Treatment Outcome
PubMed: 35757949
DOI: 10.1177/21501351221099944 -
The Annals of Thoracic Surgery May 2023Surgical palliation of patients with heterotaxy syndrome has proven challenging. Long-term outcomes have historically been poor. Factors contributing to these outcomes...
BACKGROUND
Surgical palliation of patients with heterotaxy syndrome has proven challenging. Long-term outcomes have historically been poor. Factors contributing to these outcomes are not completely understood.
METHODS
The institutional databases were queried for patients with heterotaxy syndrome from 1973 to 2021. Comparisons were made between patients managed with single ventricle physiology and biventricular physiology.
RESULTS
Heterotaxy syndrome was identified in 230 patients (polysplenia, 47%; asplenia, 53%). In all, 199 patients had single ventricle physiology; 180 (78%) had undergone Fontan palliation. Thirty-one patients had biventricular physiology, including 20 (9%) with surgical intervention and 11 (5%) without surgical intervention. Median age at Fontan was 7.5 years (interquartile range, 8.8). Median follow-up was 20 years (interquartile range, 21). Kaplan-Meier analysis showed decreased survival with single ventricle physiology (53% ± 4%, vs biventricular 93% ± 5% at 30 years; P = .001), as well as asplenia compared with polysplenia (49% ± 5% vs 68% ± 5% at 30 years; P < .001). Polysplenia patients with biventricular physiology demonstrated the best survival (100% alive, vs 53% ± 25% of asplenia biventricular at 30 years; P < .001). Overall, 8 patients (3.5%) underwent cardiac transplantation at a median age of 17 years. On multivariable analysis, risk factors associated with mortality included single ventricle physiology (odds ratio [OR] 7.2; 95% CI, 2.4-21.7), no prior Glenn (OR 3.6; 95% CI, 1.9-6.7), need for permanent pacemaker (OR 2.3; 95% CI, 1.2-4.6), and asplenia (OR 2.7; 95% CI, 1.5-5.0).
CONCLUSIONS
Overall, patients with asplenia demonstrated decreased survival compared with patients with polysplenia; and single ventricle physiology had decreased survival compared with biventricular. Patients with biventricular physiology and polysplenia had the best survival.
Topics: Humans; Child; Adolescent; Heterotaxy Syndrome; Treatment Outcome; Retrospective Studies; Heart Ventricles; Fontan Procedure; Univentricular Heart; Cardiovascular Abnormalities; Splenic Diseases; Heart Defects, Congenital
PubMed: 35718202
DOI: 10.1016/j.athoracsur.2022.05.045 -
PloS One 2022The incidence of hepatocellular carcinoma (HCC) in patients with Fontan-associated liver disease (i.e., FALD-HCC) has increased over time. However, the risk factors for...
AIMS
The incidence of hepatocellular carcinoma (HCC) in patients with Fontan-associated liver disease (i.e., FALD-HCC) has increased over time. However, the risk factors for HCC development remain unclear. Here, we compared the levels of non-invasive markers to the survival rate of FALD-HCC patients.
METHODS
From 2003 to 2021, 154 patients (66 men, 42.9%) developed liver disease after undergoing Fontan procedures. HCC was diagnosed in 15 (9.7%) (8 men, 53.3%) at a median age of 34 years (range, 21-45 years). We compared FALD-HCC and non-HCC cases; we generated marker level cutoffs using receiver operating characteristic curves. We sought to identify risk factors for HCC and mortality.
RESULTS
The incidence of HCC was 4.9% in FALD patients within 20 years after the Fontan procedure. Compared with non-HCC patients, FALD-HCC patients exhibited higher incidences of polysplenia and esophageal varices. At the time of HCC development, the hyaluronic acid (HA) level (p = 0.04) and the fibrosis-4 index (p = 0.02) were significantly higher in FALD-HCC patients than in non-HCC patients; the total bilirubin (T-BIL) level (p = 0.07) and the model for end-stage liver disease score [excluding the international normalized ratio (MELD-XI)] (p = 0.06) tended to be higher in FALD-HCC patients. Within approximately 20 years of the Fontan procedure, 10 patients died (survival rate, 96.9%). Kaplan-Meier curve analysis indicated that patients with T-BIL levels ≥ 2.2 mg/dL, HA levels ≥ 55.5 ng/mL, and MELD-XI scores ≥ 18.7 were at high risk of HCC, a generally poor prognosis, and both polysplenia and esophageal varices. Multivariate Cox regression analyses indicated that the complication of polysplenia [Hazard ratio (HR): 10.915] and a higher MELD-XI score (HR: 1.148, both p < 0.01) were independent risk factors for FALD-HCC.
CONCLUSIONS
The complication of polysplenia and a MELD-XI score may predict HCC development and mortality in FALD patients.
Topics: Adult; Biomarkers; Carcinoma, Hepatocellular; End Stage Liver Disease; Esophageal and Gastric Varices; Humans; Liver Neoplasms; Male; Middle Aged; Prognosis; Retrospective Studies; Risk Factors; Severity of Illness Index; Young Adult
PubMed: 35714161
DOI: 10.1371/journal.pone.0270230 -
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 -
Cureus Apr 2022Heterotaxy syndrome, also called atrial isomerism, is a rare congenital condition in which the internal organs are abnormally arranged across the left-right axis of the...
Heterotaxy syndrome, also called atrial isomerism, is a rare congenital condition in which the internal organs are abnormally arranged across the left-right axis of the body. It is classified into polysplenia syndrome or left atrial isomerism and asplenia syndrome or right atrial isomerism. It is associated with high morbidity and mortality due to the severity of cardiac anomalies. It is important to be aware of the syndrome findings as they can be incidentally found on imaging in adults. Here, we report a case of a 33-year-old female who presented with worsening shortness of breath, found to have a pulmonary embolism, and heterotaxy was incidentally identified on her imaging. A concise review follows.
PubMed: 35607583
DOI: 10.7759/cureus.24326 -
Radiology Case Reports Jul 2022Polysplenia Syndrome is a rare condition that refers to the presence of 2 or more spleens in association with other thoracoabdominal abnormalities. Here, we report a...
Polysplenia Syndrome is a rare condition that refers to the presence of 2 or more spleens in association with other thoracoabdominal abnormalities. Here, we report a case of a 13-year-old girl who presented with acute lower abdominal pain and was diagnosed with polysplenia syndrome after obtaining a CT scan of her chest, abdomen and pelvis. Diagnostic imaging also revealed the presence of a wandering spleen hanging in the lower abdomen and upper pelvic cavity and showing signs of infarction. The patient underwent splenectomy afterward and splenic torsion was confirmed intraoperatively. To the best of our knowledge, this was the first reported case of wandering spleen torsion in a patient with polysplenia syndrome. Physicians should keep in mind the possibility of a wandering spleen torsion presenting in various locations when dealing with polysplenia syndrome patients complaining of abdominal pain.
PubMed: 35570876
DOI: 10.1016/j.radcr.2022.04.009 -
European Journal of Human Genetics :... Aug 2022The birth prevalence of laterality defects is about 1.1/10,000 comprising different phenotypes ranging from situs inversus totalis to heterotaxy, mostly associated with...
The birth prevalence of laterality defects is about 1.1/10,000 comprising different phenotypes ranging from situs inversus totalis to heterotaxy, mostly associated with complex congenital heart defects (CHD) and situs abnormalities such as intestinal malrotation, biliary atresia, asplenia, or polysplenia. A proportion of laterality defects arise in the context of primary ciliary dyskinesia (PCD) accompanied by respiratory symptoms or infertility. In this study, exome sequencing (ES) was performed in 14 case-parent trios/quattros with clinical exclusion of PCD prior to analysis. Moreover, all cases and parents underwent detailed clinical phenotyping including physical examination, echocardiography by a skilled paediatric cardiologist and abdominal ultrasound examinations not to miss mildly affected individuals. Subsequent survey of the exome data comprised filtering for monoallelic de novo, rare biallelic, and X-linked recessive variants. In two families, rare variants of uncertain significance (VUS) in PKD1L1 and ZIC3 were identified. Both genes have been associated with laterality defects. In two of the remaining families, biallelic variants in LMBRD1 and DNAH17, respectively, were prioritized. In another family, an ultra-rare de novo variant in WDR47 was found. Extensive exome survey of 2,109 single exomes of individuals with situs inversus totalis, heterotaxy, or isolated CHD identified two individuals with novel monoallelic variants in WDR47, but no further individuals with biallelic variants in DNAH17 or LMBRD1. Overall, ES of 14 case-parent trios/quattros with cardiovascular laterality defects identified rare VUS in two families in known disease-associated genes PKD1L1 and ZIC3 and suggests DNAH17, LMBRD1, and WDR47 as potential genes involved in laterality defects.
Topics: Exome; Heart Defects, Congenital; Heterotaxy Syndrome; Humans; Membrane Proteins; Nucleocytoplasmic Transport Proteins; Phenotype; Situs Inversus; Exome Sequencing
PubMed: 35474353
DOI: 10.1038/s41431-022-01100-2 -
Annals of Hematology Jul 2022Congenital asplenia is a rare disorder commonly associated with other visceral and cardiac congenital anomalies. Isolated congenital asplenia is even less common than...
Congenital asplenia is a rare disorder commonly associated with other visceral and cardiac congenital anomalies. Isolated congenital asplenia is even less common than syndromic forms. The risk of severe bacterial infections associated with asplenia is the most concerning clinical implication and carries a significant mortality risk. Prophylactic measures against the clinical syndrome known as overwhelming postsplenectomy infections (OPSI) include vaccination, prophylactic and emergency antibiotics and health education including fever management and travel advice. This case series describes fourteen adults with congenital asplenia and polysplenia syndrome, most of whom were diagnosed incidentally as adults, and outlines the nature of their diagnosis, clinical phenotype, family history and key pathology findings.
Topics: Anti-Bacterial Agents; Humans; Splenic Diseases; Syndrome; Vaccination
PubMed: 35451619
DOI: 10.1007/s00277-022-04765-3