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heterotaxy syndrome

Kumar Narahari Narahari, Anu Kapoor, Sarat Kumar Sanamandra, Surya Ramachandra Varma Gunturi
Primary ciliary dyskinesia (PCD) is a rare disorder with impaired ciliary function resulting in a spectrum of clinical manifestations of varying severity. PCD affects approximately one in every 20,000 individuals with a reported prevalence between 1:4000 and 1:50,000. Due to its nonspecific clinical features, the condition is usually diagnosed late in its course, unless situs inversus (SI) or organ laterality defects are discovered at imaging. A small subset of patients with PCD display associated organ laterality defects, different from the classical SI totalis...
January 2018: International Journal of Applied and Basic Medical Research
Khalid Mahmood, Mukhtar A Memon, Shabbir A Naeem
No abstract text is available yet for this article.
March 2018: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
Hirofumi Obinata, Shinichi Nishibe, Yoko Ishihara
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...
2018: JA Clin Rep
Yohei Yamada, Ken Hoshino, Takayuki Oyanagi, Ryohei Gatayama, Jun Maeda, Nobuyuki Katori, Yasushi Fuchimoto, Taizo Hibi, Masahiro Shinoda, Kentaro Matsubara, Hideaki Obara, Ryo Aeba, Yuko Kitagawa, Hiroyuki Yamagishi, Tatsuo Kuroda
Children with single ventricle physiology have complete mixing of the pulmonary and systemic circulations, requiring staged procedures to achieve a separation of these circulations, or Fontan circulation. The single ventricle physiology significantly increases the risk of mortality in children undergoing non-cardiac surgery. As liver transplantation for patients with single ventricle physiology is particularly challenging, only a few reports have been published. We herein report a case of successful LDLTx for an 8-month-old pediatric patient with biliary atresia, heterotaxy, and complex heart disease of single ventricle physiology...
February 19, 2018: Pediatric Transplantation
Shelby C White, Peter N Dean, Eugene D McGahren, James J Gangemi, Jeffrey Vergales
BACKGROUND: Patients with heterotaxy syndrome (HS) often have asymptomatic malrotation. There is a lack of consensus regarding the management of these patients, particularly in patients with complex congenital heart disease (CHD). We sought to describe the prevalence of malrotation and incidence of volvulus in a population of patients with complex CHD and to identify the impact of malrotation on morbidity and mortality following cardiac surgery. METHODS: We performed a retrospective review of all patients with HS and complex CHD who required cardiac surgery in the first year of life at a single center between October 1995 and September 2015...
January 31, 2018: Journal of Pediatric Surgery
Hugo R Martinez, Stephanie M Ware, Marcus S Schamberger, John J Parent
Left ventricular noncompaction cardiomyopathy (LVNC) is characterized by compact and trabecular layers of the left ventricular myocardium. This cardiomyopathy may occur with congenital heart disease (CHD). Single cases document co-occurrence of LVNC and heterotaxy, but no data exist regarding the prevalence of this association. This study sought to determine whether a non-random association of LVNC and heterotaxy exists by evaluating the prevalence of LVNC in patients with heterotaxy. In a retrospective review of the Indiana Network for Patient Care, we identified 172 patients with heterotaxy (69 male, 103 female)...
September 2017: Progress in Pediatric Cardiology
Stephen P Sanders, Tal Geva
No abstract text is available yet for this article.
February 2018: Circulation. Cardiovascular Imaging
Helen M Bellchambers, Stephanie M Ware
Mutation of ZIC3 causes X-linked heterotaxy, a syndrome in which the laterality of internal organs is disrupted. Analysis of model organisms and gene expression during early development suggests ZIC3-related heterotaxy occurs due to defects at the earliest stage of left-right axis formation. Although there are data to support abnormalities of the node and cilia as underlying causes, it is unclear at the molecular level why loss of ZIC3 function causes such these defects. ZIC3 has putative roles in a number of developmental signalling pathways that have distinct roles in establishing the left-right axis...
2018: Advances in Experimental Medicine and Biology
Robert H Anderson, Diane E Spicer, Rohit Loomba
Pediatric cardiologists treating patients with severe congenital cardiac defects define "visceral heterotaxy" on the basis of isomerism of the atrial appendages. The isomeric features represent an obvious manifestation of disruption of left-right asymmetry during embryonic development. Thus, there are two subsets of individuals within the overall syndrome, with features of either right or left isomerism. Within the heart, it is only the atrial appendages that are truly isomeric. The remainder of the cardiac components shows variable morphology, as does the arrangement of the remaining body organs...
February 6, 2018: Journal of Cardiovascular Development and Disease
Stéphanie Cupers, Christine Van Linthout, Brigitte Desprechins, Léon Rausin, Martine Demarche, Marie-Christine Seghaye
No abstract text is available yet for this article.
January 8, 2018: Clinics and Practice
Marwan M Refaat, Jad Ballout, Moussa Mansour
With improved surgical techniques and medical management for patients with congenital heart diseases, more patients are living longer and well into adulthood. This improved survival comes with a price of increased morbidity, mainly secondary to increased risk of tachyarrhythmias. One of the major arrhythmias commonly encountered in this subset of cardiac patients is AF. Similar to the general population, the risk of AF increases with advancing age, and is mainly secondary to the abnormal anatomy, abnormal pressure and volume parameters in the hearts of these patients and to the increased scarring and inflammation seen in the left atrium following multiple surgical procedures...
December 2017: Arrhythmia & Electrophysiology Review
Adil Omer, Dana Haddad, Leszek Pisinski, Alan V Krauthamer
We report a case of absent pituitary infundibulum and ectopic neurohypophysis in a 4-year-old patient presenting clinically with hypopituitarism as well as heterotaxy syndrome complicated by global developmental delay and growth retardation. The clinical and laboratory workup of our patient suggested underlying hypopituitarism related to either congenital or acquired pathology, necessitating MRI to distinguish between them. We explain the various structural causes of hypopituitarism and detail how to predict the MRI findings and treatment, based on a fundamental understanding of the anatomy and pathophysiology of the hypothalamic pituitary axis and distinguishing anterior versus posterior pituitary hormone derangements...
September 2017: Journal of Radiology Case Reports
Spyridon Pagkratis, Sara Kryeziu, Miranda Lin, Samah Hoque, Juan Carlos Bucobo, Jonathan M Buscaglia, Georgios V Georgakis, Aaron R Sasson, Joseph Kim
RATIONALE: Heterotaxy with polysplenia is an extremely rare congenital condition resulting from abnormal arrangement of organs in the abdominal and thoracic cavities during embryologic development. When a malignancy such as pancreatic cancer develops under these conditions, surgical resection becomes particularly complex. This case report demonstrates successful pancreatic cancer resection despite the patient's complicated anatomy. PATIENT CONCERNS: An 82-year-old female presented to our institution with complaints of mild right upper quadrant pain radiating to the mid-epigastric region...
December 2017: Medicine (Baltimore)
Xiaofang Wang, Yifan Shi, Shi Zeng, Jiawei Zhou, Jia Zhou, Hongxia Yuan, Lin Wang, Weiyuan Shi, Qichang Zhou
BACKGROUND: To investigate the differences in cardiovascular disease, extracardiac anomalies and outcomes between fetuses with levocardia and dextrocardia. METHODS: Clinical demographics, prenatal features, postnatal characteristics and the outcomes of fetuses with levocardia or dextrocardia were recorded and analyzed. RESULTS: Sixty-five fetuses with dextrocardia and thirty-eight fetuses with levocardia were enrolled. Right ventricle outlet obstruction, atrioventricular septal defect and intestinal malrotation were common in both groups...
November 23, 2017: BMC Pregnancy and Childbirth
Mary C Niu, Heather A Dickerson, Judson A Moore, Caridad de la Uz, Santiago O Valdés, Jeffrey J Kim, David E Bard, Shaine A Morris, Christina Y Miyake
BACKGROUND: Heterotaxy syndrome (HS) is a rare disorder with complex anatomy involving misarrangements of the cardiac conduction system. Arrhythmias may be related to anatomic variations and contribute to morbidity. OBJECTIVE: The purpose of this study was to investigate the associations between arrhythmias, anatomy, and outcomes in a large HS cohort. METHODS: A single-center retrospective review of patients ≤21 years of age diagnosed with HS was performed...
December 8, 2017: Heart Rhythm: the Official Journal of the Heart Rhythm Society
Daisuke Kondoh, Tomomi Kawano, Tomoaki Kikuchi, Kaoru Hatate, Kenichi Watanabe, Motoki Sasaki, Norio Yamagishi, Hisashi Inokuma, Nobuo Kitamura
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...
September 29, 2017: BMC Veterinary Research
Roosevelt Bryant, William Wallen, Raheel Rizwan, David L Morales
The circumflex aorta is a rare type of true vascular ring anomaly. It consists of a retroesophageal right aortic arch, a left-sided descending thoracic aorta, and a left-sided ligamentum arteriosum. The "aortic uncrossing procedure" described by Planché and Lacour-Gayet is the procedure of choice for managing this aortic anomaly in patients with a biventricular heart. The presence of a circumflex aorta in a patient with heterotaxy syndrome and univentricular congenital heart disease requiring Norwood palliation is highly unusual...
July 2017: World Journal for Pediatric & Congenital Heart Surgery
Jo Eun Jung, Jin Ho Hur, Mo Kyung Jung, Ahreum Kwon, Hyun Wook Chae, Duk Hee Kim, Ho-Seong Kim
Heterotaxy syndrome (HS) is a congenital disorder resulting from an abnormal arrangement of visceral organs across the normal left-right axis in the embryonic period. HS is usually associated with multiple anomalies, including defects of the major cardiovascular system and the extracardiovascular system such as intestinal malrotation, abnormal lung lobulation, bronchus anomalies, and pancreatic dysplasia. Although pancreatic dysplasia is occasionally accompanied with HS, the occurrence of diabetes mellitus (DM) due to pancreatic dysplasia in HS is rarely reported...
June 2017: Annals of Pediatric Endocrinology & Metabolism
Michal Gur, Enbal Ben-Tal Cohen, Olga Genin, Abraham Fainsod, Zeev Perles, Yuval Cinnamon
Axial determination occurs during early stages of embryogenesis. Flaws in laterality patterning result in abnormal positioning of visceral organs, as manifested in heterotaxy syndrome, or complete left-right inversion as in situs inversus totalis. These malformations are often associated with ciliopathies, as seen in primary ciliary dyskinesia. We have recently described a novel mutation in the Coiled-Coil Domain-Containing 11 (CCDC11) gene associated with laterality disorders in a consanguineous family of Arab-Muslim origin with two affected siblings presenting with diverse phenotypes, one with heterotaxy syndrome and the other with non-primary ciliary dyskinesia situs inversus totalis...
2017: International Journal of Developmental Biology
Danilo Italo Pio Buca, Asma Khalil, Giuseppe Rizzo, Alessandra Familiari, Silvia Di Giovanni, Marco Liberati, Daniela Murgano, Alessandra Ricciardulli, Francesco Fanfani, Giovanni Scambia, Francesco D'Antonio
OBJECTIVES: To assess the perinatal outcomes of fetuses affected by heterotaxy. METHODS: Medline, Embase and Cinhal were searched. Only studies reporting a prenatal diagnosis of isomerism were included. The outcomes observed were: associated cardiac and extra-cardiac anomalies, fetal arrhythmias, abnormal karyotype, type of surgical repair and perinatal mortality. The analysis was stratified according the type of heterotaxy syndrome (left, LAI, and right, RAI, atrial isomerism)...
June 12, 2017: Ultrasound in Obstetrics & Gynecology
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