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Journal of Cardiology Cases Jan 2021A 28-year-old woman with polysplenia was referred to our hospital for atrial lead failure. She had undergone an intracardiac repair (ICR) for incomplete atrioventricular...
A 28-year-old woman with polysplenia was referred to our hospital for atrial lead failure. She had undergone an intracardiac repair (ICR) for incomplete atrioventricular septal defect and the implantation of epicardial pacing leads due to complete atrioventricular block at the age of 1 year. When she was 13 years old, an endocardial dual-chamber pacemaker was implanted via the right subclavian vein because of epicardial lead failure. The contrast-enhanced computed tomography scan revealed an inferior vena cava defect with an azygos vein connection to the superior vena cava, occlusion of the right brachiocephalic vein, a defect of the left brachiocephalic vein, and a persistent left superior vena cava ligated at the ICR. Therefore, lead exchange was indicated. During the operation, the temporary pacing lead and the guidewire for emergent deployment of the Bridge Occlusion Balloon® were advanced through the azygos vein and placed at the right ventricle and the hepatic vein, respectively. Both 11-Fr and 13-Fr mechanical rotational dilator sheaths were needed for the lead extraction owing to dense calcification and tight adhesions. The atrial lead was successfully extracted without any complications despite extremely restricted venous access. A new atrial lead was inserted through the space created by the 13-Fr sheath. < Transvenous lead extraction in patients with polysplenia is technically challenging. These patients often undergo pacemaker implantation in childhood, which results in tight adhesions and dense calcifications on the leads, and venous access is extremely restricted. It may be impossible to use a snare and deploy the endovascular balloon to prevent a catastrophic complication from the right femoral vein to the superior vena cava in cases of the inferior vena cava defect.>.
PubMed: 33437340
DOI: 10.1016/j.jccase.2020.09.004 -
Global Pediatric Health 2022Polysplenia syndrome is an uncommon condition associating several splenic nodules (sometimes polylobed spleen and cases of normal spleen have been described) with a...
Polysplenia syndrome is an uncommon condition associating several splenic nodules (sometimes polylobed spleen and cases of normal spleen have been described) with a number of malformations that appear between the fourth and sixth week of embryonic development. Although it has been suggested that genetic, teratogenic, and embryogenic factors may be at fault, the exact etiology remains unclear. Clinically, it is generally asymptomatic or mildly symptomatic. The authors report the case of an 11-months-old infant from a poorly monitored pregnancy. He was admitted to the emergency room for respiratory discomfort in a context of apyrexia. A thoraco-abdominal CT scanner revealed a polysplenia syndrome.
PubMed: 36189184
DOI: 10.1177/2333794X221127640 -
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 -
Asian Journal of Surgery Dec 2023
Topics: Humans; Heterotaxy Syndrome; Renal Veins; Tomography, X-Ray Computed
PubMed: 37541886
DOI: 10.1016/j.asjsur.2023.07.115 -
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 -
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 -
Scientific Reports Feb 2021Hepatopulmonary syndrome (HPS) is defined as three distinct features: liver disease, hypoxemia, and intrapulmonary vasodilation. The purpose of this study was to...
Hepatopulmonary syndrome (HPS) is defined as three distinct features: liver disease, hypoxemia, and intrapulmonary vasodilation. The purpose of this study was to investigate the clinical outcomes of pediatric HPS and to identify the risk factors for HPS in children with biliary atresia (BA). We performed a retrospective cohort study of all children who were diagnosed with HPS between 2000 and 2018 at Seoul National University Hospital. The clinical features and outcomes of the 10 patients diagnosed with HPS were reviewed. To clarify the risk factors of HPS in patients with BA, we reviewed 120 patients diagnosed with BA. Underlying liver disease was BA in 8 patients, portal vein agenesis in 1 patient, and portal vein thrombosis in 1 patient. A total of 7 patients underwent liver transplantation (LT). Currently, all seven patients, including 3 patients with severe HPS, survived after LT. The prevalence of HPS in children with BA was 7%. Polysplenia/interrupted inferior vena was the only risk factor for HPS in BA patients in multivariate analysis. The Pediatric End-Stage Liver Disease score was not associated with the development of HPS. Children with severe HPS undergoing LT had excellent outcomes. Screening for HPS in children with BA is required regardless of the severity of liver diseases.
Topics: Biliary Atresia; Child; End Stage Liver Disease; Hepatopulmonary Syndrome; Humans; Liver Transplantation; Prevalence; Retrospective Studies; Risk Factors; Seoul; Severity of Illness Index
PubMed: 33603173
DOI: 10.1038/s41598-021-83785-x -
Journal of Surgical Case Reports Feb 2022Situs inversus is described as exact mirroring of the normal anatomical arrangement of the major visceral organs. Polysplenia is a congenital anomaly associated with...
Situs inversus is described as exact mirroring of the normal anatomical arrangement of the major visceral organs. Polysplenia is a congenital anomaly associated with situs inversus and causes various splenic abnormalities. This case discusses a 62-year-old female who presented to the emergency department with hypotension and abdominal pain. Commuted tomography reveals situs inversus and a lobulated mass in the right upper quadrant consistent with a splenic rupture intraoperatively. This is the first reported case of a spontaneous splenic rupture in a patient with situs inversus. This case highlights the rarity of splenic injuries in situs inversus and the unique anatomical challenges that surgeons are faced with intraoperatively in a high-pressure environment.
PubMed: 35198143
DOI: 10.1093/jscr/rjac033 -
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 -
The Indian Journal of Surgery Jun 2013Polysplenia with situs inversus along with the torsion of spleen is a rare event. We report a case of a 12 year old child who presented with acute abdominal pain. There...
Polysplenia with situs inversus along with the torsion of spleen is a rare event. We report a case of a 12 year old child who presented with acute abdominal pain. There was an ill-defined mass in right hypochondrium and lumbar regions. The CT scan of abdomen revealed presence of multiple spleens with infarction of the largest spleen and features of complete dextroversion. Intraoperatively the infarcted spleen was found twisted around its vascular pedicle and removed.
PubMed: 24426576
DOI: 10.1007/s12262-012-0668-4