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Internal Medicine (Tokyo, Japan) Nov 2017
PubMed: 28943557
DOI: 10.2169/internalmedicine.8702-16 -
Hepatology Research : the Official... Jul 2020Hepatocellular carcinoma (HCC) can arise from Fontan-associated liver disease (FALD); this is known as FALD-HCC. The clinical features of FALD-HCC are unclear. Thus, we...
AIM
Hepatocellular carcinoma (HCC) can arise from Fontan-associated liver disease (FALD); this is known as FALD-HCC. The clinical features of FALD-HCC are unclear. Thus, we examined the incidence and clinical characteristics of FALD-HCC.
METHODS
From 1972 to 2019, 122 patients developed liver disease after undergoing Fontan procedures. HCC was diagnosed in 12 (9.8%) FALD patients. We compared FALD-HCC and non-HCC patients.
RESULTS
The incidence of HCC was 0.8% and 2.9% in FALD 10 and 20 years after the Fontan procedure, respectively. The median age of patients at diagnosis of HCC was 32.5 years (range 20.6-46.1 years), and seven of the 12 patients were men. Patients with FALD-HCC had a higher incidence of liver cirrhosis and polysplenia than non-HCC patients. Liver tumors were detected as single nodules in eight patients, and the median diameter was 47 mm (range 11-105 mm). HCC was treated by surgical resection in two patients, transcatheter arterial chemoembolization or chemotherapy in three patients, and proton beam therapy in four patients. Three patients could not be treated because of their poor condition. Four patients died of liver/cardiac failure and HCC, and HCC was controlled in three patients. The survival rate after 25 years was significantly lower in patients with FALD-HCC than non-HCC patients (68.6% vs. 97.9%, respectively; P < 0.01).
CONCLUSIONS
Of the 122 patients with FALD, 12 developed HCC 20 years after surgery. Because complications of HCC are associated with poor prognosis, constant surveillance for HCC should begin 10 years after surgery.
PubMed: 32219953
DOI: 10.1111/hepr.13500 -
Journal of the Belgian Society of... Oct 2019What to look for in case of polysplenia and/or unusual disposition of several intra-abdominal organs.
What to look for in case of polysplenia and/or unusual disposition of several intra-abdominal organs.
PubMed: 31646265
DOI: 10.5334/jbsr.1903 -
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 -
Clinical Medicine Insights. Cardiology 2022Heterotaxy syndrome is a rare congenital heart disease with a disarrangement of the heart and abdominal organs. We present a young African female with features of heart...
Heterotaxy syndrome is a rare congenital heart disease with a disarrangement of the heart and abdominal organs. We present a young African female with features of heart failure, diffuse irregular cardiac murmurs, and palpable, tender epigastric mass. A chest and abdominal computed tomography (CT) identified heterotaxy syndrome with left isomerism and fused adrenal glands. This case highlights the feature of fused adrenal glands in a patient with polysplenia.
PubMed: 36187466
DOI: 10.1177/11795468221116851 -
Journal of Pediatric Surgery Feb 2016Antenatal detection of right-sided stomach (dextrogastria) is rare, and its significance in regards to intestinal rotation is unclear. We aimed to review all cases of...
AIM
Antenatal detection of right-sided stomach (dextrogastria) is rare, and its significance in regards to intestinal rotation is unclear. We aimed to review all cases of antenatally-diagnosed dextrogastria in our regional fetal medicine unit over 10years.
METHODS
A retrospective case-note review of patients identified from a prospectively-maintained database was performed.
RESULTS
Twenty cases of antenatally-diagnosed dextrogastria were identified from 2004 to 2014. There were 8 terminations and 1 intra-uterine death. One patient has no post-natal information obtainable. Ten infants were live-born, and 2 died secondary to cardiac disease in the neonatal period. All had significant cardiac/vascular anomaly on postnatal assessment, including the 3 neonates in whom dextrogastria was the only antenatal finding. Two neonates developed bilious vomiting and underwent Ladd's procedure. Operative findings were dextrogastria/malrotation in both. A third child had gastro-oesophageal reflux, and contrast demonstrated stable duodenal/midgut position. This child has not developed symptoms attributable to malrotation and not undergone surgery. All 3 of these infants had asplenia or polysplenia and were managed with antibiotic prophylaxis/immunisation. Five children in the series were not investigated for malrotation and have not come to surgical attention (one is known to be asplenic).
CONCLUSION
Antenatally-detected dextrogastria, even if apparently isolated, was always associated with postnatal significant cardiovascular anomaly, splenic abnormality or situs inversus. This may be important for antenatal counselling. We currently recommend postnatal echocardiography and splenic assessment, but reserve GI investigation/intervention for symptomatic malrotation owing to potential significant cardiac comorbidity.
Topics: Abnormalities, Multiple; Female; Follow-Up Studies; Heart Defects, Congenital; Humans; Infant, Newborn; Pregnancy; Prenatal Diagnosis; Retrospective Studies; Situs Inversus; Stomach; Stomach Diseases; Torsion Abnormality
PubMed: 26655213
DOI: 10.1016/j.jpedsurg.2015.10.060 -
Cureus May 2023Polysplenia syndrome is a rare congenital anomaly characterized by multiple spleens and associated organ anomalies, which can present with serious complications such as...
Polysplenia syndrome is a rare congenital anomaly characterized by multiple spleens and associated organ anomalies, which can present with serious complications such as splenic infarction. Diagnosis and management of the disorder can be challenging due to the presence of associated anomalies and the condition is often diagnosed incidentally. We report a case of a six-year-old girl with no significant medical history who presented to the emergency department with fever, abdominal pain, and vomiting. Physical examination and laboratory investigations showed leukocytosis, anemia, and elevated levels of C-reactive protein. A computed tomography scan revealed splenic infarction with polysplenia syndrome. The patient received intravenous antibiotics and pain management and was closely monitored for complications such as sepsis. Early diagnosis and appropriate management are essential to prevent complications, and close monitoring and follow-up are necessary for long-term management.
PubMed: 37284391
DOI: 10.7759/cureus.38589 -
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 -
Circulation Journal : Official Journal... Mar 2019Recent progress in surgical and intensive care has improved the prognosis of congenital heart disease (CHD) associated with heterotaxy syndrome. Less is known, however,...
BACKGROUND
Recent progress in surgical and intensive care has improved the prognosis of congenital heart disease (CHD) associated with heterotaxy syndrome. Less is known, however, about pulmonary vascular complications in these patients. Methods and Results: We reviewed medical records of 236 patients who were diagnosed with polysplenia syndrome at 2 institutions for pediatric cardiology in Japan from 1978 to 2015. We selected and compared the clinical records of 16 patients with polysplenia who had incomplete atrioventricular septal defect (AVSD) as the polysplenia group, and 22 age-matched patients with incomplete AVSD without any syndromes including polysplenia as the control group. Although the severity of systemic to pulmonary shunt was not significantly different between the groups, mean pulmonary artery pressure (mPAP) and pulmonary vascular resistance index (PVRI) were significantly higher in the polysplenia group than the control (mPAP, 37.3 vs. 19.1 mmHg, P=0.001; PVRI, 5.7 vs. 1.4 WU∙m, P=0.014) before surgical intervention. On regression analysis, polysplenia influenced the development of pulmonary hypertension (PH) regardless of age at evaluation or degree of systemic to pulmonary shunt in the patients with incomplete AVSD.
CONCLUSIONS
Polysplenia syndrome is an independent risk factor for CHD-associated PH. Earlier intervention may be required to adjust the pulmonary blood flow in polysplenia syndrome with CHD to avoid the progression of PH.
Topics: Adolescent; Adult; Case-Control Studies; Child; Child, Preschool; Disease Progression; Heart Defects, Congenital; Heterotaxy Syndrome; Humans; Hypertension, Pulmonary; Infant; Japan; Pulmonary Artery; Retrospective Studies; Risk Factors; Young Adult
PubMed: 30842375
DOI: 10.1253/circj.CJ-18-0933 -
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