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Heterotaxy-asplenia syndrome

Pushpa Masiwal, K S Chenthil, B Priyadarsini, J Gnanaprakasam, Iyengaran Srihari
Ivemark syndrome or right atrial isomerism is a rare syndrome of asplenia / hyposplenia with malformation of heart and abnormal arrangement of internal organs of chest and abdomen and is classified under heterotaxy disorder. We describe here the case of a 14 year old boy diagnosed with asplenia, dextrocardia with double outlet right ventricle and midline liver.
May 2016: Journal of the Association of Physicians of India
Paula C Goldenberg, Betsy J Adler, Ashley Parrott, Julia Anixt, Karen Mason, Jannel Phillips, David S Cooper, Stephanie M Ware, Bradley S Marino
BACKGROUND: There is a known high prevalence of genetic and clinical syndrome diagnoses in the paediatric cardiac population. These disorders often have multisystem effects, which may have an important impact on neurodevelopmental outcomes. Taken together, these facts suggest that patients and families may benefit from consultation by genetic specialists in a cardiac neurodevelopmental clinic. OBJECTIVE: This study assessed the burden of genetic disorders and utility of genetics evaluation in a cardiac neurodevelopmental clinic...
September 19, 2016: Cardiology in the Young
Hiroko Yoneyama, Chisato Kondo, Aki Yamasaki, Toshio Nakanishi, Shuji Sakai
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. The evaluated CT findings were as follows: the orientation of stomach, liver and gallbladder; short pancreas; azygous/hemiazygous continuation; ipsilateral position of the inferior vena cava and aorta; preduodenal portal vein; abnormal confluence of renal vein (defined as renal vein drains to the inferior vena cava or azygous/hemiazygous vein at the upper level of celiac trunk origin); gastrointestinal malrotation; and tracheobronchial tree...
November 2015: European Journal of Radiology
Muhammad S Khan, Roosevelt Bryant, Sung H Kim, Kevin D Hill, Jeffrey P Jacobs, Marshall L Jacobs, Sara K Pasquali, David L S Morales
BACKGROUND: Total anomalous pulmonary venous connection (TAPVC) is prevalent in patients with atriovisceral heterotaxy. Although functionally univentricular heart defects are common in heterotaxy syndromes, the extent to which this association influences overall risk for TAPVC repair is undefined. This study examines multiinstitutional experience with TAPVC repair in infants with heterotaxy using a national clinical registry. METHODS: The Society of Thoracic Surgeons Congenital Heart Surgery Database (STS-CHSD) (2002-2012) was queried for patients with heterotaxy syndrome who underwent TAPVC repair, with or without concomitant procedures at age of 90 days or younger...
June 2015: Annals of Thoracic Surgery
I Gottschalk, R Stressig, J Ritgen, U Herberg, J Breuer, A Vorndamme, B Strizek, A Willruth, A Geipel, U Gembruch, C Berg
OBJECTIVE: To assess the incidence and impact of extracardiac anomalies on the prognosis of fetuses with heterotaxy syndrome. METHODS: All fetuses diagnosed with heterotaxy syndrome by three experienced examiners over a period of 14 years (1999-2013) were reviewed retrospectively. RESULTS: In total, 165 fetuses with heterotaxy syndrome were diagnosed in the study period. One hundred and fifty (90.9%) had cardiac defects; extracardiac anomalies that did not involve the spleen were present in 26/165 (15...
April 2016: Ultrasound in Obstetrics & Gynecology
Robert H Anderson, Anne E Sarwark, Diane E Spicer, Carl L Backer
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. And it has been shown that the isomerism found in terms of bronchial arrangement correlates in a better fashion with the cardiac anatomy than does the presence of multiple spleens, or the absence of any splenic tissue...
2014: Multimedia Manual of Cardiothoracic Surgery: MMCTS
Anette S B Wolff, Jaanika Kärner, Jone F Owe, Bergithe E V Oftedal, Nils Erik Gilhus, Martina M Erichsen, Olle Kämpe, Anthony Meager, Pärt Peterson, Kai Kisand, Nick Willcox, Eystein S Husebye
Patients with the autoimmune polyendocrine syndrome type I (APS-I), caused by mutations in the autoimmune regulator (AIRE) gene, and myasthenia gravis (MG) with thymoma, show intriguing but unexplained parallels. They include uncommon manifestations like autoimmune adrenal insufficiency (AI), hypoparathyroidism, and chronic mucocutaneous candidiasis plus autoantibodies neutralizing IL-17, IL-22, and type I IFNs. Thymopoiesis in the absence of AIRE is implicated in both syndromes. To test whether these parallels extend further, we screened 247 patients with MG, thymoma, or both for clinical features and organ-specific autoantibodies characteristic of APS-I patients, and we assayed 26 thymoma samples for transcripts for AIRE and 16 peripheral tissue-specific autoantigens (TSAgs) by quantitative PCR...
October 15, 2014: Journal of Immunology: Official Journal of the American Association of Immunologists
Kosuke Izumi, Sarah Noon, Alisha Wilkens, Ian D Krantz
Exome sequencing enables us to screen most of the protein coding genes in an unbiased way, this technique represents an ideal tool to identify previously under- or unappreciated phenotypes associated with known disease genes and genetic disorders. Here we present an illustrative case that required exome sequencing to identify a genetic alteration associated with the clinical features. The phenotype of the proband included heterotaxy, double outlet right ventricle, common atrioventricular canal, total anomalous pulmonary venous connection, asplenia, failure to thrive and short stature...
October 2014: European Journal of Medical Genetics
Maria C Escobar-Diaz, Kevin Friedman, Yishay Salem, Gerald R Marx, Brian T Kalish, Terra Lafranchi, Rahul H Rathod, Sitaram Emani, Tal Geva, Wayne Tworetzky
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. Of 154 fetuses with HS, 61 (40%) had asplenia syndrome (ASP) and 93 (60%) had polysplenia syndrome (PSP). In the ASP group, 22 (36%) patients were elected for termination of pregnancy, 4 (10%) had fetal death, and 35 of 39 (90%) continued pregnancies were live born...
August 15, 2014: American Journal of Cardiology
David Zangen, Yotam Kaufman, Ehud Banne, Ariella Weinberg-Shukron, Abdulsalam Abulibdeh, Benjamin P Garfinkel, Dima Dweik, Moein Kanaan, Núria Camats, Christa Flück, Paul Renbaum, Ephrat Levy-Lahad
The transcription factor steroidogenic factor 1 (SF-1; also known as NR5A1) is a crucial mediator of both steroidogenic and nonsteroidogenic tissue differentiation. Mutations within SF1 underlie different disorders of sexual development (DSD), including sex reversal, spermatogenic failure, ovarian insufficiency, and adrenocortical deficiency. Here, we identified a recessive mutation within SF1 that resulted in a substitution of arginine to glutamine at codon 103 (R103Q) in a child with both severe 46,XY-DSD and asplenia...
May 2014: Journal of Clinical Investigation
Elizabeth C Burton, Michelle Olson, Lisa Rooper
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. We categorized 116 cases as situs inversus totalis, polysplenia, asplenia, and single right-sided spleen...
July 2014: Pediatric and Developmental Pathology
Marta Unolt, Carolina Putotto, Lucia M Silvestri, Dario Marino, Alessia Scarabotti, Valerio Massaccesi, Angela Caiaro, Paolo Versacci, Bruno Marino
Transposition of great arteries (TGA) is one of the most common and severe congenital heart diseases (CHD). It is also one of the most mysterious CHD because it has no precedent in phylogenetic and ontogenetic development, it does not represent an alternative physiological model of blood circulation and its etiology and morphogenesis are still largely unknown. However, recent epidemiologic, experimental, and genetic data suggest new insights into the pathogenesis. TGA is very rarely associated with the most frequent genetic syndromes, such as Turner, Noonan, Williams or Marfan syndromes, and in Down syndrome, it is virtually absent...
2013: Frontiers in Pediatrics
Christopher D Wolla, Anthony M Hlavacek, U Joseph Schoepf, Andreas M Bucher, Shahryar Chowdhury
Heterotaxy and situs abnormalities describe an abnormal arrangement of visceral organs in the thoracoabdominal cavity across the normal left-right axis of the body. It is associated with a high occurrence of congenital heart and abdominal defects, including anomalous pulmonary venous connections, systemic venous abnormalities, asplenia, and intestinal malrotation. Without proper diagnosis and surgical intervention, the prognosis of patients with heterotaxy syndrome and associated congenital defects is extremely poor...
November 2013: Journal of Cardiovascular Computed Tomography
Tacy E Downing, Yoav Dori, Matthew A Harris, Andrew C Glatz
We present the case of a 3-year-old boy with asplenia-type heterotaxy syndrome and functionally single ventricle congenital heart disease who developed cyanosis early after the Fontan operation. Combined cardiac magnetic resonance imaging (MRI) and catheterization identified a large hepatic vein to pulmonary vein connection as the source of right to left shunt. The anatomy was quite unusual, suggesting an underlying diagnosis of mixed total anomalous pulmonary venous connection with left-sided scimitar vein...
November 2014: Congenital Heart Disease
Jeffrey Phillip Jacobs, Sara K Pasquali, David L S Morales, Marshall Lewis Jacobs, Constantine Mavroudis, Paul Jubeong Chai, Christo I Tchervenkov, Francois G Lacour-Gayet, Hal Walters, James Anthony Quintessenza
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'...
April 2011: World Journal for Pediatric & Congenital Heart Surgery
Gerald R Marx
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.
April 2011: World Journal for Pediatric & Congenital Heart Surgery
Alexandre Bolze, Nizar Mahlaoui, Minji Byun, Bridget Turner, Nikolaus Trede, Steven R Ellis, Avinash Abhyankar, Yuval Itan, Etienne Patin, Samuel Brebner, Paul Sackstein, Anne Puel, Capucine Picard, Laurent Abel, Lluis Quintana-Murci, Saul N Faust, Anthony P Williams, Richard Baretto, Michael Duddridge, Usha Kini, Andrew J Pollard, Catherine Gaud, Pierre Frange, Daniel Orbach, Jean-Francois Emile, Jean-Louis Stephan, Ricardo Sorensen, Alessandro Plebani, Lennart Hammarstrom, Mary Ellen Conley, Licia Selleri, Jean-Laurent Casanova
Isolated congenital asplenia (ICA) is characterized by the absence of a spleen at birth in individuals with no other developmental defects. The patients are prone to life-threatening bacterial infections. The unbiased analysis of exomes revealed heterozygous mutations in RPSA in 18 patients from eight kindreds, corresponding to more than half the patients and over one-third of the kindreds studied. The clinical penetrance in these kindreds is complete. Expression studies indicated that the mutations carried by the patients-a nonsense mutation, a frameshift duplication, and five different missense mutations-cause autosomal dominant ICA by haploinsufficiency...
May 24, 2013: Science
Alois Boos, Hans Geyer, Urs Müller, Jeanne Peter, Tanja Schmid, Christian Gerspach, Matteo Previtali, Maja Rütten, Titus Sydler, Colin C Schwarzwald, Elisabeth M Schraner, Ueli Braun
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. CASE PRESENTATION: A 3.5-year-old Brown Swiss cow was referred to the Department of Farm Animals, Vetsuisse Faculty, University of Zurich, because of poor appetite and recurrent indigestion...
2013: BMC Veterinary Research
Mei-Tsz Su, Yu-Ling Liang, Jian-Chin Chen, H Sunny Sun, Fong-Ming Chang, Pao-Lin Kuo
Non-mosaic trisomy 16 is rarely seen in later gestation. Herein, we report a fetus with uniparental complete trisomy 16 manifesting with asplenia syndrome, left hand deformity (only 3 deformed fingers on the left hand) and a left low-set ear. The pregnancy ended in severe placental abruption and resultant fetal demise, and maternal hypovolemic shock at 35 weeks of gestation. Only 3 non-mosaic trisomy 16 fetuses, including this case, have been reported to survive into the second or third trimester. Furthermore, this fetus would be the first case of complete trisomy 16 manifesting as asplenia syndrome...
April 2013: European Journal of Medical Genetics
Stephanie Papillon, Catherine J Goodhue, Osnat Zmora, Shalini S Sharma, Winfield J Wells, Henri R Ford, Jeffrey S Upperman, Kasper S Wang, Gerald A Bushman, Richard Kim, James R Pierce
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...
January 2013: Journal of Pediatric Surgery
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