167 results match your criteria Asplenia Polysplenia

Outcomes of Biventricular and Single Ventricle Heterotaxy Patients: A Single Center 5-Decade Experience.

Ann Thorac Surg 2022 Jun 16. Epub 2022 Jun 16.

Department of Cardiovascular Surgery, Mayo Clinic, Rochester, Minnesota. Electronic address:

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. Read More

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Incidental Finding of Heterotaxy Syndrome in a Patient With Pulmonary Embolism: A Case Report and Concise Review.

Cureus 2022 Apr 20;14(4):e24326. Epub 2022 Apr 20.

Internal Medicine/Division of General and Hospital Medicine, University of Texas Health Science Center at San Antonio, San Antonio, USA.

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. Read More

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Exome sequencing in individuals with cardiovascular laterality defects identifies potential candidate genes.

Eur J Hum Genet 2022 Apr 26. Epub 2022 Apr 26.

Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.

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. Read More

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Congenital asplenia study: clinical and laboratory characterisation of adults with congenital asplenia.

Ann Hematol 2022 Jul 22;101(7):1421-1434. Epub 2022 Apr 22.

Monash Infectious Diseases, Monash Health, Victoria, Australia.

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. Read More

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Clinical implications of congenital interruption of inferior vena cava.

J Formos Med Assoc 2022 Feb 5. Epub 2022 Feb 5.

Departments of Pediatrics, National Taiwan University Hospital, Medical College, National Taiwan University, Taiwan.

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. Read More

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February 2022

Surgical management of hearts with isomeric atrial appendages.

J Card Surg 2022 May 5;37(5):1340-1352. Epub 2022 Feb 5.

Department of Cardiothoracic and Vascular Surgery, All India Institute of Medical Sciences, New Delhi, India.

Background And Aim: On the basis of previously published accounts, coupled with our own experience, we have assessed the surgical approaches to patients with isomeric atrial appendages.

Methods: We reviewed pertinent published studies on surgical treatment of individuals with isomeric atrial appendages, with the pertinent surgical details provided by most of the manuscripts.

Results: Half of patients with right isomerism, and two-thirds of those with left isomerism have bilateral superior caval veins. Read More

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Post-operative Morbidity and Mortality After Fontan Procedure in Patients with Heterotaxy and Other Situs Anomalies.

Pediatr Cardiol 2022 Jun 22;43(5):952-959. Epub 2022 Jan 22.

Division of Pediatric Cardiology, Department of Pediatrics, Stanford University School of Medicine, 750 Welch Road, Suite 305, Palo Alto, CA, USA.

Heterotaxy is a complex, multisystem disorder associated with single ventricle heart disease and decreased survival. Ciliary dysfunction is common in heterotaxy and other situs abnormalities (H/SA) and may increase post-operative complications. We hypothesized that patients with H/SA have increased respiratory and renal morbidities and increased in-hospital mortality after Fontan procedure. Read More

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Multimodality imaging of developmental splenic anomalies: tips and pitfalls.

Clin Radiol 2022 05 7;77(5):319-325. Epub 2022 Jan 7.

Department of Radiology, Hong Kong Children's Hospital, 1 Shing Cheong Road, Ngau Tau Kok, Kowloon, Hong Kong.

Anomalies in number and location may occur during splenic development. This review aims to offer a brief overview of splenic function and embryology and a detailed account of the imaging appearances using different imaging techniques of the normal spleen and various congenital splenic anomalies including (1) abnormal viscero-atrial situs, (2) splenogonadal fusion, (3) intrapancreatic accessory spleen, (4) wandering spleen, and (5) splenosis. Emphasis is placed on the salient features that help radiologists recognise important associations (e. Read More

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Heterotaxy syndrome with complex congenital heart disease, facial palsy, and asplenia: A rare newborn finding.

Clin Case Rep 2021 Aug 7;9(8):e04573. Epub 2021 Aug 7.

Institute of Medicine Maharajgunj Medical Campus Kathmandu Nepal.

Heterotaxy syndrome is associated with asplenia/polysplenia and complex congenital heart disease. Facial palsy in heterotaxy is very rare. The management is still challenging with a poor prognosis. Read More

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Asymptomatic left isomerism with preduodenal portal vein: computed tomography appearance.

Bruno Coulier

Surg Radiol Anat 2021 Sep 13;43(9):1425-1429. Epub 2021 Apr 13.

Department of Diagnostic Radiology, Clinique St Luc, Bouge, 5004, Namur, Belgium.

Left isomerism (polysplenia), one of the two major variants of heterotaxia with right isomerism (asplenia), may be rarely diagnosed in adulthood. Most cases are nevertheless asymptomatic and incidentally detected during imaging or surgery performed for unrelated conditions. We hereby report a case of left isomerism fortuitously diagnosed in a 55-year-old man with unrelated tachy-cardiomyopathy. Read More

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September 2021

Extracorporeal Membrane Oxygenation Complicated by an Interrupted Inferior Vena Cava.

ASAIO J 2021 09;67(9):e160-e162

From the Department of Anesthesiology, University of Kentucky College of Medicine, Lexington, Kentucky.

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. Read More

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September 2021

Heterotaxy polysplenia syndrome in an adult female with complete endocardial cushion defect.

Radiol Case Rep 2021 May 24;16(5):1080-1084. Epub 2021 Feb 24.

Department of Radiology, Kabul University of Medical Sciences, Kabul, Afghanistan.

Heterotaxy syndrome is a rare condition characterized by the abnormal arrangement of thoracoabdominal organs across the left-right axis of the body. It is generally classified as right and left atrial isomerism or asplenia and polysplenia syndrome, even though there are overlaps and uncertainties. The diagnosis of isomerism is typically made by echocardiography. Read More

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Changes in Prognosis of Heterotaxy Syndrome Over Time.

Pediatrics 2020 08 9;146(2). Epub 2020 Jul 9.

Departments of Cardiology and

Background: Long-term outcomes in heterotaxy syndrome (HS) are poorly described. Some reports suggest improved survival in the recent era, whereas others do not. We sought to describe long-term outcomes and assess whether outcomes have changed over time. Read More

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The Spectrum of Cardiac Anomalies Associated with Heterotaxy: A Single-Center Study of a Large Series Based on Computed Tomography.

Pediatr Cardiol 2020 Oct 18;41(7):1414-1424. Epub 2020 Jun 18.

Departments of Radiodiagnosis, Narayana Institute of Cardiovascular Sciences, Narayana Health City, 258/A, Bommasandra, Hosur Road, Bangalore, 560099, India.

The aim of the study was to identify and correlate the anatomical variants of cardiac structures among patients with heterotaxy. In this retrospective cross-sectional analysis of 13 years duration, 302 patients of congenital heart diseases associated with heterotaxy were studied. All these patients had undergone a meticulous clinical evaluation, echocardiography, and cardiac computed tomography. Read More

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October 2020

Rare Extracardiac Anomalies Presented with Right Heterotaxy Syndrome in a Newborn Baby: A Case Report.

Am J Case Rep 2020 Jun 3;21:e923341. Epub 2020 Jun 3.

Department of Cardiology, King Saud Medical City, Riyadh, Saudi Arabia.

BACKGROUND Heterotaxy is a syndrome of abnormal arrangement of the internal thoracic-abdominal structures across the left-right axis of the body. It is a primary disorder with 2 main settings - bilateral left sidedness (polysplenia syndrome) or right sidedness (asplenia syndrome) - although some overlapping or uncertainties may occur. Patients with right heterotaxy typically present with asplenia, complex heart disease, and other thoracoabdominal organ situs abnormalities. Read More

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Fatal pneumococcal septicemia in a girl with visceral heterotaxy and polysplenia: a case report.

Forensic Sci Med Pathol 2020 09 13;16(3):519-522. Epub 2020 May 13.

Department of Laboratory Medicine & Pathobiology, University of Toronto, Toronto, Canada.

We report an unusual case of a 15-month old previously healthy girl who died of pneumococcal septicemia in the background of visceral heterotaxy with polysplenia. Heterotaxy can also present with asplenia whereas polysplenia cases usually present with functional asplenia. Of particular note, this girl received the 13-valent pneumococcal conjugate vaccine as recommended by the Centers for Disease Control and Prevention in the routine pediatric immunization schedule used in the USA and Canada. Read More

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September 2020

Isomerism of the atrial appendages: morphology and terminology.

Cardiovasc Pathol 2020 Jul - Aug;47:107205. Epub 2020 Jan 16.

Department of Cardiac, Thoracic and Vascular Sciences and Public Health, University of Padua, Italy. Electronic address:

Background: Our aim is to identify the pathognomonic anatomical markers and the best terminology to describe the cardiac malformations associated with absent or multiple spleens, which are known as asplenia or polysplenia syndromes or isomerism.

Materials And Methods: We have reviewed 65 hearts with isomerism of atrial appendages of the Anatomical Collections of Congenital Heart Disease, Institute of Pathological Anatomy of the University of Padua consisting of 1800 specimens. All the hearts were classified according to sequential segmental classification. Read More

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Outcomes in adults with congenital heart disease and heterotaxy syndrome: A single-center experience.

Congenit Heart Dis 2019 Nov 16;14(6):885-894. Epub 2019 Oct 16.

Department of Pediatrics, Section of Pediatric and Adult Congenital Cardiology, Baylor College of Medicine, Texas Children's Hospital, Houston, Texas.

Background: Heterotaxy syndrome (HS) is a condition in which the thoracoabdominal organs demonstrate an abnormal lateral arrangement and is often associated with congenital heart disease (CHD). Little is known about the adult HS population with CHD.

Objective: To describe the outcomes and sociodemographics of the adult CHD population with HS. Read More

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November 2019

Characterisation of computed tomography angiography findings in paediatric patients with heterotaxy.

Pediatr Radiol 2019 08 5;49(9):1142-1151. Epub 2019 Jun 5.

Department of Medical Imaging/Radiology Nemours Children's Health System/Nemours Children's Hospital, University of Central Florida, College of Medicine, Orlando, FL, USA.

Background: Heterotaxy refers to the abnormal arrangement of organs across the left-right axis and is typically associated with complex cardiovascular malformations.

Objective: To characterise the range of cardiac and extracardiac CT angiography findings in children with heterotaxy using the latest nomenclature consensus and to compare the different types of isomerism.

Materials And Methods: We retrospectively analysed the data of 64 consecutive paediatric patients referred to our tertiary paediatric cardiovascular centre who underwent CT angiography for the evaluation of known or suspected heterotaxy within a 52-month period. Read More

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The Story of Dr Stella (1927-2006).

World J Pediatr Congenit Heart Surg 2019 01;10(1):125-128

1 Boston Children's Hospital, Boston, MA, USA.

A life of professional caring, research, teaching, and inspiration-this is the legacy of Dr Stella Zacharioudaki Van Praagh, MD. Among her many outstanding contributions, only a few are recorded here: (1) a new surgical operation for closing apical muscular ventricular septal defects, (2) a newly discovered form of anomalous pulmonary venous drainage and its surgical repair, (3) a new understanding of sinus venosus defects and their surgical repair, (4) the realization that the concept of atrial-level isomerism (mirror-imagery) in the heterotaxy syndromes of asplenia, polysplenia, and single right-sided spleen is erroneous, (5) the understanding that it is possible to diagnose the atrial situs in the majority of cases of the heterotaxy syndromes, and (6) the fact that the concepts of evolution, natural selection, and survival of the fittest were described by Empedocles, an ancient Greek philosopher, in the fifth century bc, and that these concepts were not discovered and published for the first time by Charles Darwin and Alfred Russell Wallace in the 19th century (1858 ad). Dr Stella was conversant with ancient Greek and read it frequently in an ancient Greek study group that she headed. Read More

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January 2019

Long-term survival and phenotypic spectrum in heterotaxy syndrome: A 25-year follow-up experience.

Int J Cardiol 2018 Oct;268:100-105

Department of Pediatric Cardiology and Cardiac Surgery, Bambino Gesù Children Hospital and Research Institute, Rome, Italy.

Background: Heterotaxy syndrome (HS) is a group of congenital disorders characterized by abnormal arrangement of thoraco-abdominal organs across the left-right axis of the body, classified as right (RAI) and left atrial isomerism (LAI)·We investigated the long-term survival and phenotypic spectrum in our HS cohort. Results are compared to literature data.

Methods: This is a single centre, observational, both retro and prospective study. Read More

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October 2018

Asplenia and polysplenia syndromes: time of successful treatment and updated terminology.

Int J Cardiol 2019 01 21;274:117-119. Epub 2018 Jun 21.

Department of Cardiac, Thoracic, and Vascular Sciences, University of Padua, Italy.

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January 2019

Atypical perioperative management for duodenal obstruction in an infant with heterotaxy syndrome: a case report.

JA Clin Rep 2018 12;4(1):16. Epub 2018 Feb 12.

Department of Anesthesiology, Saitama International Medical Center, 1397-1 Yamane, Hidaka, Saitama, Japan.

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. Read More

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February 2018

Disharmonious Patterns of Heterotaxy and Isomerism: How Often Are the Classic Patterns Breached?

Circ Cardiovasc Imaging 2018 02;11(2):e006917

From the Labatt Family Heart Centre (D.Y., H.N., L.G.-W., M.S., E.J., S.-J.Y.) and Department of Diagnostic Imaging (C.Z.L., L.G.-W., M.S., S.-J.Y.), The Hospital for Sick Children, Toronto, Canada; and Department of Pediatrics, University of Toronto, Canada (L.G.-W., M.S., E.J., S.-J.Y.).

Background: It is advocated that heterotaxy should be segregated into right or left isomerism according to atrial appendage morphology. However, atrial situs determination is often based on the pattern of associated findings rather than on atrial morphology itself, which can be difficult to define. The objective was to assess how often concordant patterns of isomerism classified by atrial appendage morphology, bronchopulmonary pattern, and splenic status are breached using cardiac magnetic resonance or computed tomography. Read More

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February 2018

Polysplenia syndrome with duodenal and pancreatic dysplasia in a Holstein calf: a case report.

BMC Vet Res 2017 Sep 29;13(1):292. Epub 2017 Sep 29.

Division of Basic Veterinary Medicine, Obihiro University of Agriculture and Veterinary Medicine, Obihiro, Hokkaido, Japan.

Background: Laterality disorders of the abdominal organs include situs inversus totalis that mirrors the arrangements of all internal organs and heterotaxy syndrome (situs ambiguus) in which the thoracic or abdominal organs are abnormally arranged. Heterotaxy is often accompanied by multiple congenital malformations, and it generally comprises asplenia and polysplenia syndromes. To our knowledge, polysplenia syndrome has been reported in only three cattle, and computerized tomographic (CT) images of these animals were not obtained. Read More

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September 2017

Anatomic variations of the spleen: current state of terminology, classification, and embryological background.

Surg Radiol Anat 2018 Jan 19;40(1):21-29. Epub 2017 Jun 19.

Department of Anatomy, Second Faculty of Medicine, Charles University, V Úvalu 84, 150 06, Prague 5, Czech Republic.

A thorough understanding of the anatomy, physiology, and development of the spleen is essential for determining the pathophysiological mechanisms underpinning splenic diseases and congenital variations. The aim of this review is to briefly summarize current knowledge regarding the normal development of the spleen, and to provide an overview of clinically relevant congenital splenic variations. These include such variations as asplenia, polysplenia, hyposplenia, lobulation of spleen, accessory spleens, accessory splenic nodules, wandering spleen, splenogonadal and splenopancreatic fusion, splenic cysts, and cavernous haemangioma of the spleen. Read More

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January 2018

SF1 and spleen development: new heterozygous mutation, literature review and consequences for NR5A1-mutated patient's management.

Clin Genet 2017 Jul 22;92(1):99-103. Epub 2017 Feb 22.

CHU Lille, Clinique de Génétique Guy Fontaine, Lille, France.

Steroidogenic factor 1 (encoded by SF1/NR5A1) is a transcription factor with multiple target genes involved in the development and function of multiple steroidogenic and non-steroidogenic tissues. NR5A1 mutations lead to several phenotypes, including sex reversal, spermatogenesis failure, premature ovarian failure and adrenocortical insufficiency. The implication of NR5A1 mutations in spleen development anomalies was recently highlighted. Read More

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Factors influencing bacteraemia in patients with isomerism and CHD: the effects of functional splenic status and antibiotic prophylaxis.

Cardiol Young 2017 May 29;27(4):639-647. Epub 2016 Sep 29.

2Institute of Genetic Medicine,Newcastle University,Newcastle Upon Tyne,United Kingdom.

Background: "Heterotaxy syndrome", best segregated as isomerism, is characterised by laterality defects of the thoraco-abdominal organs, causing functional impairment. In particular, the spleen is frequently affected, increasing susceptibility to bacteraemia. This study explored factors that may increase the risk of bacteraemia in patients with isomerism. Read More

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Bacteremia in Patients with Heterotaxy: A Review and Implications for Management.

Congenit Heart Dis 2016 Dec 18;11(6):537-547. Epub 2016 Jul 18.

Division of Cardiology, Children's Hospital of Wisconsin, Medical College of Wisconsin, Milwaukee, Wis, USA.

Heterotaxy (HTX) is a laterality defect resulting in abnormal arrangement of the thoracic and abdominal organs across the right-left axis, and is associated with multiple anatomic and physiologic disruptions. HTX often occurs in association with complex congenital heart disease. Splenic abnormalities are also common and convey an increased risk of bacteremia (bacteremia) with a high associated mortality. Read More

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December 2016

Antenatally diagnosed right-sided stomach (dextrogastria): A rare rotational anomaly.

J Pediatr Surg 2016 Feb 4;51(2):236-9. Epub 2015 Nov 4.

Department of Paediatric Surgery, University Hospital Southampton Foundation NHS Trust. Electronic address:

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. Read More

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February 2016