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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

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

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

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

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

1Department 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

Circ Cardiovasc Imaging 2018 Feb;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

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

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

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

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

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

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

J Pediatr Surg 2015 Dec 21;50(12):2124-7. Epub 2015 Nov 21.

Department of Pediatric Surgery, Tohoku University Graduate School of Medicine, Sendai, Japan.

Background: We assessed the long-term outcomes of patients with biliary atresia with splenic malformation (BASM).

Methods: We retrospectively assessed outcomes of 255 patients who underwent the Kasai procedure (KP) at our hospital between 1972 and 2014. Clinical outcomes of 11 patients with BASM (group A: nine with polysplenia, two with asplenia) and 244 patients with isolated BA (group B) were compared. Read More

Indian J Pediatr 2015 Dec 26;82(12):1135-46. Epub 2015 Nov 26.

Department of Pediatric Cardiology, JAYPEE Hospital, Sector 128, Noida, Uttar Pradesh, India.

Thoraco-abdominal viscera have unique morphological asymmetry, unlike the body's external organs. Heterotaxy syndrome is a disorder in which there is a loss of normal left to right asymmetry of thoraco-abdominal viscera and their naturally proscribed spatial relationship. It has multiple anatomical alterations, culminating into physiological and hemodynamic consequences. Read More

Eur J Radiol 2015 Nov 5;84(11):2301-6. Epub 2015 Aug 5.

Department of Diagnostic Imaging & Nuclear Medicine, Tokyo Women's Medical University, 8-1, Kawada-cho, Shinjuku-ku, Tokyo, 162-8666, Japan.

Objectives: To compare the differences of visceral anomalies shown by computed tomography (CT) in patients with polysplenia syndrome (PS) or asplenia syndrome (AS).

Methods: This retrospective study was approved by the institutional review board, and informed consent was waived. Thirty-one patients with PS and 29 patients with AS underwent chest-abdominal CT. Read More

Rev Med Chil 2015 Mar;143(3):383-6

Ivemark syndrome (IS) is a rare embryological disorder which results from failure of development of the left-right asymmetry of organs. It is often associated with cardiac and other organ abnormalities, which are the usual causes of death in early neonatal life. We report a 3 months old girl with IS with dextrocardia, transposition of the great vessels, atrio-ventricular connection, total anomalous pulmonary venous drainage, a right atrial and right pulmonary isomerism, a midline liver, a midline gallbladder, asplenia, intestinal malrotation and vena cava anomalies. Read More

Multimed Man Cardiothorac Surg 2014 24;2014. Epub 2014 Dec 24.

Division of Cardiovascular-Thoracic Surgery, Lurie Children's Hospital, Chicago, IL, USA.

It is well recognized that the patients with the most complex cardiac malformations are those with so-called visceral heterotaxy. At present, it remains a fact that most investigators segregate these patients on the basis of their splenic anatomy, describing syndromes of so-called asplenia and polysplenia. It has also been known for quite some time, nonetheless, that the morphology of the tracheobronchial tree is usually isomeric in the setting of heterotaxy. Read More

Fetal Pediatr Pathol 2014 Oct-Dec;33(5-6):293-320. Epub 2014 Oct 14.

Holtz Children's Hospital Department of Pathology, Pediatric Pathology, University of Miami , Coral Gables, FL , USA.

This article reviews the majority of Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) with emphasis in Pediatric Pathology describing and illustrating lesions as varied as ureteral duplications, ureteropelvic junction obstruction, horseshoe kidney, posterior urethral valve and prune belly syndrome, obstructive renal dysplasia, nonmotile ciliopathies and several syndromes associated with renal malformations (Meckel-Joubert, short rib, Bardet-Biedl, asplenia/polysplenia, hereditary renal adysplasia, Zellweger, trisomies, VACTER-L, Potter, caudal dysplasia, and sirenomelia), as well as ADPK, and ARPK. The purpose of this review is not only to describe the congenital renal anomalies, but also to analyze the more recent therapeutic interventions that may modify the natural history of some of these severe conditions. Read More

Ann Pediatr Cardiol 2014 Sep;7(3):187-92

Department of Cardiology, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India.

Management of complex congenital heart disease in patients with Heterotaxy syndrome (HS) has steadily improved. However, there is an insufficient appreciation of various non-cardiac issues that might impact the overall status of these patients. This article briefly reviews the implications of gastrointestinal, immunologic, genitourinary, respiratory, and central nervous system involvement in HS patients with a view to aid in their comprehensive clinical management. Read More

Am J Cardiol 2014 Aug 6;114(4):612-7. Epub 2014 Jun 6.

Department of Cardiology, Boston Children's Hospital, Boston, Massachusetts; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts.

Patients with heterotaxy syndrome (HS) have a range of anomalies and outcomes. There are limited data on perinatal outcomes after prenatal diagnosis. To determine the factors influencing perinatal and infant outcomes, we analyzed prenatal and postnatal variables in fetuses with HS from 1995 to 2011. Read More

Pediatr Dev Pathol 2014 Jul-Aug;17(4):250-64. Epub 2014 Apr 15.

1  Johns Hopkins Medicine, Department of Pathology, Autopsy Division, Pathology building, Room B106, 600 N. Wolfe Street, Baltimore, MD 21287-6417.

Heterotaxy is a rare disease with high morbidity and mortality. Controversy exists over how to classify these syndromes with most cases stratified into asplenia/polysplenia syndromes or right/left isomerism. In an effort to review comprehensively specific pheonotypes associated with heterotaxy syndromes, we reviewed published cases series, adopted a classification scheme based on spleen status, and evaluated autopsy cases retrospectively with abnormal laterality at our institution. Read More

J Card Surg 2013 Sep;28(5):580-6

Department of Cardiovascular Surgery, The Northern Hospital of Shenyang, Shenyang, Liaoning, China.

Aims: Common atrium (CA) is a rare congenital heart defect. We reviewed our experience of surgical treatment of CA and summarize the clinical features of CA and the key techniques for surgical correction.

Methods: Between August 1984 and August 2010, 37 consecutive cases of CA underwent corrective surgery. Read More

J Cardiovasc Magn Reson 2013 May 21;15:40. Epub 2013 May 21.

Department of Radiology, Shanghai Children’s Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, China.

Background: The cardiovascular system is the part of the fetal anatomy that most frequently suffers from congenital pathology. This study shows our preliminary experience with fetal cardiovascular magnetic resonance (CMR) to evaluate congenital cardiovascular abnormalities.

Methods: Between January 2006 and June 2011, Prenatal routine obstetric ultrasound (US), echocardiography and CMR data from 68 pregnant women carrying fetuses with congenital cardiovascular anomalies were compared with postnatal diagnoses (postnatal imagings, surgery and autopsy). Read More

BMC Vet Res 2013 Feb 20;9:34. Epub 2013 Feb 20.

Institute of Veterinary Anatomy, Vetsuisse Faculty, University of Zurich, Winterthurerstrasse 260, 8057, Zurich, Switzerland.

Background: Laterality defects are rare in cattle and usually manifest as asplenia or polysplenia syndrome. These syndromes may be associated with situs ambiguus, which is a dislocation of some but not all internal organs. The objective of this report was to describe the clinical and post-mortem findings including the macroscopic and microscopic anatomy of selected organs in a cow with polysplenia and situs ambiguus. Read More

J Pediatr Surg 2013 Jan;48(1):164-9

Department of Pediatric Surgery, Children's Hospital Los Angeles, CA 90027, USA.

Purpose: Heterotaxy syndrome is associated with intestinal abnormalities. We sought to define the gastrointestinal anatomy and determine both the risk of volvulus and benefit of screening upper gastrointestinal fluoroscopy (UGI) in these patients.

Methods: Medical records from 2003 until 2011 at Children's Hospital Los Angeles were reviewed in patients with heterotaxy for cardiovascular diagnosis, gastrointestinal symptoms, imaging and surgical arrangement of viscera, perioperative morbidities, and overall mortality. Read More

Kyobu Geka 2012 Jul;65(8):669-75

Department of the Cardiovascular Surgery, Shizuoka Children's Hospital, Japan.

Surgical management of the heterotaxy syndrome including asplenia or polysplenia is still challenging, because they have not only congenital heart defects but also gastrointestinal abnormalities. In most cases, they are Fontan candidates, however, indications and procedures of surgical strategy toward Fontan operation are quite difficult because of cardiac complications or abdominal manifestations. We mentioned indications, surgical technique, peri- and post-operative managements of asplenia syndrome with our experiences and results. Read More

Z Geburtshilfe Neonatol 2012 Jun 21;216(3):122-31. Epub 2012 Jun 21.

Pränatale Medizin und Gynäkologische Sonografie, Uniklinik Köln.

Disorders of laterality and heterotaxy syndromes are rare diseases with an incidence of 1-1.5/10,000 live births. They are associated with numerous viscerocardiac anomalies and malformations. Read More

J Cardiol Cases 2012 Sep 23;6(3):e81-e83. Epub 2012 Jun 23.

Department of Medicine and Geriatrics, Kochi Medical School, Kohasu, Oko-cho, Nankoku-shi, Kochi 783-8505, Japan.

A 76-year-old female taking oral medications for chronic atrial fibrillation and hypertension was admitted to our hospital for examination of bilateral leg edema. Transthoracic echocardiography showed an enlarged coronary sinus of about 40 mm. Contrast-enhanced computed tomography revealed absence of the left innominate vein, a persistent left superior vena cava, and absence of the hepatic segment of the inferior vena cava. Read More

J R Coll Physicians Edinb 2012 Jun;42(2):116-8

Respiratory Unit, Western General Hospital, Edinburgh EH4 2XU, UK.

This case report describes a diagnosis of right-sided isomerism and specifically right-sided bronchial isomerism in a patient who was being investigated for deteriorating bronchiectasis. Right-sided bronchial isomerism is a variation of the normal bronchial anatomy (situs solitus) consisting of a left lung that is identically configured at the bronchial and lobar level to the right. It is sometimes referred to as bilateral right lung and is usually associated with congenital asplenia and therefore impaired immunity with susceptibility to pneumococcal sepsis and cardiac abnormalities which may be severe and result in a high mortality in infancy. Read More

J Cardiovasc Comput Tomogr 2012 Mar-Apr;6(2):127-36. Epub 2012 Jan 28.

Department of Radiology, Addenbrookes Hospital, Hills Road, Cambridge CB2 0QQ, United Kingdom.

This review describes the broad spectrum of findings found in atrial isomerism, suggesting a sequential approach to image evaluation, and illustrates the most common situs disorders, for example, polysplenia and asplenia. Read More

Pediatr Radiol 2012 Jun 12;42(6):653-9. Epub 2012 Jan 12.

Department of Anatomy, Embryology and Physiology, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.

Background: Laterality defects are quite common in thoracoileopagus and parapagus dicephalus but rare in other types of conjoined twins.

Objective: To present the presumed laterality defects in cephalothoracoileopagus and prosopothoracoileopagus conjoined twins, based on the unilateral or bilateral absence or duplication of the spleen.

Materials And Methods: Three human anatomical specimens of craniothoracoileopagus (CTIP) twins and one of prosopothoracoileopagus (PTIP) twins were investigated. Read More

Hellenic J Cardiol 2011 Sep-Oct;52(5):469-72

Department of Cardiology, Gulhane Military Medical Academy, School of Medicine, Ankara, Turkey.

The heterotaxy syndrome is a rare and sporadic disorder. This syndrome presents with situs ambiguus, splenic malformations such as asplenia or polysplenia, and congenital heart disease. Congenital heart diseases associated with this syndrome include a broad variety of manifestations. Read More

Korean Circ J 2011 May 31;41(5):227-32. Epub 2011 May 31.

Division of Pediatric Cardiology, Department of Pediatrics, Konkuk University Hospital, Seoul, Korea.

Heterotaxy is defined as an abnormality where the internal thoraco-abdominal organs demonstrate abnormal arrangement across the left-right axis of the body. This broad term includes patients with a wide variety of very complex cardiac lesions. Patients with heterotaxy can be stratified into the subsets of asplenia syndrome and polysplenia syndrome, or the subsets of heterotaxy with isomerism of the right atrial appendages and heterotaxy with isomerism of the left atrial appendages. Read More

Eur J Radiol 2012 Apr 28;81(4):e495-501. Epub 2011 Jun 28.

Department of Radiology, Division of Neuroradiology and Musculoskeletal Radiology, Medical University Vienna, Waehringer Guertel 18-20, A-1090 Vienna, Austria.

Objective: Situs anomalies refer to an abnormal organ arrangement, which may be associated with severe errors of development. Due regard being given to prenatal magnetic resonance imaging (MRI) as an adjunct to ultrasonography (US), this study sought to demonstrate the in utero visualization of situs anomalies on MRI, compared to US.

Materials And Methods: This retrospective study included 12 fetuses with situs anomalies depicted on fetal MRI using prenatal US as a comparison modality. Read More

World J Pediatr Congenit Heart Surg 2011 Apr;2(2):278-86

The Congenital Heart Institute of Florida (CHIF), All Children's Hospital and Children's Hospital of Tampa, University of South Florida College of Medicine, Cardiac Surgical Associates of Florida (CSAoF), Saint Petersburg and Tampa, FL, USA.

According to The International Society for Nomenclature of Pediatric and Congenital Heart Disease (ISNPCHD), "Heterotaxy is synonymous with 'visceral heterotaxy' and 'heterotaxy syndrome'. Heterotaxy is defined as an abnormality where the internal thoraco-abdominal organs demonstrate abnormal arrangement across the left-right axis of the body. By convention, heterotaxy does not include patients with either the expected usual or normal arrangement of the internal organs along the left-right axis, also known as 'situs solitus', or patients with complete mirror-imaged arrangement of the internal organs along the left-right axis also known as `situs inversus'. Read More

World J Pediatr Congenit Heart Surg 2011 Apr;2(2):253-7

Department of Cardiology, Children's Hospital Boston, Boston, MA, USA.

The important anatomic aspects of heterotaxy syndrome can be diagnosed by Doppler echocardiography in the newborn and infant. An organized approach and an understanding of asplenia (right atrial isomerism) and polysplenia (left atrial isomerism) are integral to the echocardiographic study. Detailed and precise depiction of the anatomy is the mainstay for staging subsequent medical and surgical management. Read More

J Radiol Case Rep 2011 1;5(4):1-9. Epub 2011 Apr 1.

Department of Radiodiagnosis, G.S.V.M Medical college, Swaroop Nagar, Kanpur, India.

Isomerism or Heterotaxy syndromes are rare multifaceted congenital anomalies with multi-system involvement. Grouped under the broad category of Situs Ambiguous defects, these often pose diagnostic difficulties due to their varied and confusing anatomy. Since patients rarely survive into adulthood due to cardiovascular complications, the etiology and natural history of such conditions are not fully understood. Read More

Pediatr Cardiol 2010 Oct 21;31(7):1052-8. Epub 2010 Aug 21.

Division of Pediatric Cardiology, Johns Hopkins Hospital, Baltimore, MD, 21287, USA.

The purpose of this study was to define a population of visceral heterotaxy and to investigate the incidence of bacterial sepsis in the current era of universal pediatric pneumococcal immunization. Pediatric echocardiography and radiology databases, along with electronic medical records, were searched for patients followed-up since birth between 1999 and 2009 with either asplenia or polysplenia and cardiac anatomy consistent with heterotaxy syndrome. A total of 29 patients were identified. Read More

Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu 2009 :19-38

Departments of Pathology, Cardiology, and Cardiac Surgery, Children's Hospital Boston, Boston, MA, USA.

Stella Van Praagh, MD (1927-2006) of Children's Hospital Boston was one of the greatest pediatric cardiologists and pediatric cardiac pathologists of the 20th and early 21st centuries. Née Stella Zacharioudaki from Crete, Greece, in addition to her stellar professional attainments, she was also an outstanding cuisinière, hostess, linguist, philosopher, and philanthropist. In 1962, she married Richard Van Praagh, MD, beginning a life-long collaboration that was in every sense an affaire de coeur. Read More

J Radiol Case Rep 2009 1;3(8):30-4. Epub 2009 Aug 1.

Kansas City University of Medicine and Biosciences, Kansas City, MO, USA.

We report the case of a 23 year-old obese female, with previously diagnosed situs inversus below the diaphragm, who presented with severe left upper quadrant abdominal pain. The patient was believed to have a surgical indication, possibly appendicitis or diverticulitis, and had an emergent abdominal Computed Tomography (CT) scan. The CT was interpreted as epiploic appendagitis with no signs of appendicitis. Read More

J Ultrasound Med 2008 Jul;27(7):1117-21

Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, University of California Davis Medical Center, Sacramento, California 95817, USA.

We report prenatal diagnosis of a rare constellation of findings, including omphalocele and polysplenia (left atrial isomerism [LAI]) with cardiac malformations including ventricular noncompaction (VNC) cardiomyopathy. The heterotaxy syndromes (polysplenia or LAI and asplenia or right atrial isomerism) are rare syndromes in which organs that are usually asymmetric are abnormally symmetric or abnormally positioned. Complex congenital heart disease is frequently associated with heterotaxy, with the heart being substantially affected in both structure and orientation. Read More

Birth Defects Res A Clin Mol Teratol 2008 Aug;82(8):601-4

First Department of Pathology, Medical School, National Kapodistrian University, Athens, Greece.

Background: Asplenia or polysplenia and complex cardiovascular defects, in association with disturbed body symmetry and malposition of internal organs, constitute the main corpus of malformations in the heterogeneous group of heterotaxy disorders. In affected pregnancies, prenatal diagnosis is possible by ultrasonography, while prognosis and counseling largely depend upon the severity of the cardiac defect.

Case: We present a 25 week gestation fetus with typical findings of asplenia-cardiovascular defect-heterotaxy (Ivemark syndrome) and aplasia of the pancreas. Read More

Ann Thorac Surg 2008 May;85(5):1691-6; discussion 1697

The Congenital Heart Institute of Florida, All Children's Hospital, University of South Florida College of Medicine, Cardiac Surgical Associates, Saint Petersburg, Florida 33701, USA.

Background: We reviewed our entire programmatic operative experience with children with hypoplastic left heart syndrome (HLHS) and related malformations.

Methods: As of October 1, 2007, 239 patients with HLHS and related malformations underwent surgical treatment at the Congenital Heart Institute of Florida. This manuscript focuses on the 199 initially treated with Norwood stage 1. Read More

Congenit Heart Dis 2007 Jan-Feb;2(1):12-8

Washington University School of Medicine-Pediatrics, St Louis, MO, USA.

Objective: Abnormalities of intestinal rotation (AIR) are seen in association with congenital heart disease and heterotaxy syndrome. The prevalence of these abnormalities and recommendations for management are unclear. Our objective was to determine the prevalence of screening for AIR by elective imaging among our group and prophylactic vs. Read More

J Indian Assoc Pediatr Surg 2008 Apr;13(2):49-56

Department of Pediatric Surgery, King's College Hospital, Denmak Hill, London SE5 9RS UK.

Biliary atresia (BA) is a cholangiodestructive disease affecting biliary tract, which ultimately leads to cirrhosis, liver failure and death if not treated. The incidence is higher in Asian countries than in Europe. Up to 10% of cases have other congenital anomalies, such as polysplenia, asplenia, situs inversus, absence of inferior vena cava and pre-duodenal portal vein, for which we have coined the term Biliary Atresia Splenic Malformation (BASM) syndrome. Read More

Cardiol Young 2007 Sep;17 Suppl 2:29-43

Division of Cardiology, The Cardiac Center at The Children's Hospital of Philadelphia and the University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, United States of America.

How best to analyse and describe the features of the situation commonly known as "visceral heterotaxy" remains controversial. Much of the disagreement devolves on how to deal with the concept of isomerism. In the opinion of some, the concept of bilateral right-sidedness and bilateral left-sidedness, while useful in helping to remember which abnormalities are likely to occur in asplenia or polysplenia, should not be granted the status of a specific "situs", since there are numerous examples of exceptions to these patterns. Read More

Vasc Endovascular Surg 2008 Feb-Mar;42(1):58-61

Department of Surgery, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Congenital absence of the inferior vena cava (CAIVC) is a rare vascular defect, commonly reported as a fortuitous finding because patients are typically asymptomatic of the condition itself but are symptomatic of associated conditions such as congenital heart disease, polysplenia, asplenia, and inversion of bowel viscera. The presence of CAIVC is probably underestimated because CAIVC may not be detected by compression B-mode ultrasonography. By use of computed tomography, we diagnosed a case of CAIVC in a young athletic patient with disabling venous stasis symptoms of the lower limbs. Read More

Pediatr Cardiol 2008 May 15;29(3):536-44. Epub 2007 Nov 15.

Department of Cardiology, Children's Hospital Boston, Harvard Medical School, Boston, MA, USA.

Historically, outcomes of patients with heterotaxy syndrome and congenital heart disease have been poor. Published series include patients treated over many decades or focus on specific patient/operative subgroups. This study was performed to evaluate midterm outcomes and determine anatomic risk factors for death in patients with all types of heterotaxy syndrome treated after 1985. Read More

J Ultrasound Med 2007 Mar;26(3):361-5

Department of Obstetrics and Gynecology, Chaim Sheba Medical Center, 52621 Tel Hashomer, Israel.

Objective: Isolated levocardia is a rare type of situs inversus in which the heart is in the normal levo position, but the abdominal viscera are in the dextro position. We aim to describe our experience with prenatal diagnosis and management in fetuses with isolated levocardia.

Methods: Of all the cases referred to our tertiary ultrasound unit, 3 cases of isolated levocardia were diagnosed. Read More

Asian Cardiovasc Thorac Ann 2006 Dec;14(6):489-94

Department of Cardiovascular Surgery, University of Tokyo Graduate School of Medicine, Tokyo, Japan.

Heterotaxy syndrome encompasses a wide range of anatomical variants including poor pulmonary vascular development. Surgical outcome remains poor in this difficult subgroup. Between April 1996 and November 2004, 27 patients with visceral heterotaxy were enrolled in this study. Read More

Forensic Sci Med Pathol 2005 Sep;1(3):215-20

Forensic Science SA and University of Adelaide, Adelaide, Australia,

Total anomalous pulmonary venous connection (TAPVC), where the pulmonary venous circulation drains into the systemic venous circulation rather than into the left atrium, may present a number of problems at autopsy. A 5-week-old infant is reported who died suddenly and unexpectedly who was found at autopsy to have infradiaphragmatic TAPVC into the portal vein. The only associated anomalies were a tri-lobed left lung, a patent ductus arteriosus, and drainage of the inferior vena cava into the both the right and left atria. Read More