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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 -
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 -
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 -
Children (Basel, Switzerland) Dec 2022A significant number of patients with dextrocardia and other cardiac malpositions have other congenital heart defects (CHDs). The incidence of CHDs in subjects with... (Review)
Review
A significant number of patients with dextrocardia and other cardiac malpositions have other congenital heart defects (CHDs). The incidence of CHDs in subjects with cardiac malpositions is significantly greater than that in normal children, and the prevalence varies with the associated visceroatrial situs. The most useful approach to diagnosis is segmental analysis. Firstly, dextroposition should be excluded. In segmental analysis, the visceroatrial situs, ventricular location, status of atrioventricular connections, the great artery relationship, and conotruncal relationship are determined with the use of electrocardiogram (ECG), chest X-ray, and echocardiographic studies, and, when necessary, other imaging studies, including angiography. Following identification of the afore-mentioned segments, the associated defects in the atrial and ventricular septae, valvar and vascular stenosis or atresia may be determined by a review of the historical information, physical examination, and analysis of chest roentgenogram, ECG, and echocardiographic studies. Along the way, a pictorial rendition of the terminology and diagnosis of cardiac malpositions is undertaken.
PubMed: 36553425
DOI: 10.3390/children9121977 -
International Journal of Surgery Case... Apr 2024Paraduodenal hernias are difficult to diagnose due to their unusual presentation. Herein, five new cases are added to the literature.
INTRODUCTION AND IMPORTANCE
Paraduodenal hernias are difficult to diagnose due to their unusual presentation. Herein, five new cases are added to the literature.
CASE PRESENTATION
Four male and one female child complained of paraduodenal hernias, two on the right side and three on the left side. The intestinal part that herniated inside the hernia sac was also malrotated in four patients. One patient had Meckel's diverticulum with a herniated intestine. One infant had extrahepatic biliary disease, a single atrium, polysplenia, intestinal malrotation, and a left paraduodenal hernia. Exploratory labarotomy was done for reduction of the intestine, reorientation, and repair of hernia orifices.
CLINICAL DISCUSSION
Paraduodenal hernia is a component of malrotation. Cautious dissection of the hernia orifice is required to keep away from injuries to the inferior mesenteric vein or left colic artery in the course of the restoration of the left paraduodenal hernia. Also, the superior mesenteric vessels may be injured in the course of the restoration of the right paraduodenal hernia.
CONCLUSION
There is a correlation between the occurrence of PDH with malrotation. The diagnosis of malrotation can be made with an ultrasound abdomen; however, it is true that ultrasound cannot make a confirmed diagnosis in all patients. Once the diagnosis of a mesocolic hernia has occurred, surgical repair is mandatory by closure of the defect.
PubMed: 38714067
DOI: 10.1016/j.ijscr.2024.109696 -
The Pan African Medical Journal 2022Polysplenia syndrome mainly described in pediatrics; rarely and incidentally in adulthood. Most patients had their diagnosis done during childhood due to the frequent...
Polysplenia syndrome mainly described in pediatrics; rarely and incidentally in adulthood. Most patients had their diagnosis done during childhood due to the frequent association to cardiac anomalies that speak for themselves earlier in life. Multiple spleens, cardiac defect and vascular malformation of the inferior vena cava with azygos or hemiazygos continuation are the most frequent observed malformations. Our patient was one this rarest adulthood incidental diagnosis, who presented in the emergency department for nephritic colic, and while imaging for this, multiples spleens and other visceral malformations were diagnosed. Hopefully, cardiac ultrasound hadn't showed any cardiac malformation and the patient was discharged aware of this condition. Through this publication we report the possible incidental diagnosis of polysplenia condition and highlight the fact that people with such important malformation can lead a normal life, and only awareness should be given for future surgeries, instrumental treatment or else.
Topics: Adult; Child; Echocardiography; Heterotaxy Syndrome; Humans; Vena Cava, Inferior
PubMed: 35371381
DOI: 10.11604/pamj.2022.41.67.29014 -
Journal of Cardiology Dec 2022The Japanese Network of Cardiovascular Departments for Adult Congenital Heart Disease (JNCVD-ACHD) was founded in 2011 for the lifelong care of adult patients with...
BACKGROUND
The Japanese Network of Cardiovascular Departments for Adult Congenital Heart Disease (JNCVD-ACHD) was founded in 2011 for the lifelong care of adult patients with congenital heart disease (ACHD patients). This network maintains the first Japanese ACHD registry.
METHODS AND RESULTS
From 2011 to 2019, the JNCVD-ACHD registered 54 institutions providing specialized care for ACHD patients in 32 of the 47 prefectures in Japan. The registry collected data on the disease profile for 24,048 patients from 50 institutions and the patient characteristics for 9743 patients from 24 institutions. The most common ACHDs were atrial septal defect (20.5 %), ventricular septal defect (20.5 %), tetralogy of Fallot (12.9 %), and univentricular heart (UVH)/single ventricle (SV; 6.6 %). ACHD patients without biventricular repair accounted for 37.0 % of the population. Also examined were the serious anatomical and/or pathophysiological disorders such as pulmonary arterial hypertension (3.0 %) including Eisenmenger syndrome (1.2 %), systemic right ventricle under biventricular circulation (sRV-2VC; 2.8 %), and Fontan physiology (6.0 %). The sRV-2VC cases comprised congenitally corrected transposition of the great arteries without anatomical repair (61.9 %) and transposition of the great arteries with atrial switching surgery (38.1 %). The primary etiology (86.4 %) for Fontan physiology was UVH/SV. In addition, developmental/chromosomal/genetic disorders were heterotaxy syndromes (asplenia, 0.9 %; polysplenia, 0.7 %), trisomy 21 (4.0 %), 22q11.2 deletion (0.9 %), Turner syndrome (0.2 %), and Marfan syndrome (1.1 %).
CONCLUSIONS
Although the specific management of ACHD has systematically progressed in Japan, this approach is still evolving. For ideal ACHD care, the prospective goals for the JNCVD-ACHD are to create local networks and provide a resource for multicenter clinical trials to support evidence-based practice.
Topics: Adult; Humans; Heart Defects, Congenital; Japan; Transposition of Great Vessels; Prospective Studies; Outpatients; Registries
PubMed: 35995687
DOI: 10.1016/j.jjcc.2022.07.019 -
Radiology Case Reports May 2023The heterotaxy syndrome is a type of syndrome that involves multiple visceral abnormalities, vascular ones and associated with left isomerism. Malformation of...
The heterotaxy syndrome is a type of syndrome that involves multiple visceral abnormalities, vascular ones and associated with left isomerism. Malformation of gastroenterologic system includes polysplenia (segmented spleen or multiple splenules), agenesis (partial or complete) of the dorsal pancreas and anomalous of the inferior vena cava implantation. Here, we describe and show the anatomy of a patient with left side inferior vena cava, situs ambiguous (complete common mesentery), polysplenia, and short pancreas. We also discuss about the embryologic process and the implications of these anomalies during gynecologic, digestive, and liver surgeries.
PubMed: 36895889
DOI: 10.1016/j.radcr.2023.02.005 -
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