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Heterotaxy

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https://www.readbyqxmd.com/read/28621423/roles-of-the-cilium-associated-gene-ccdc11-in-left-right-patterning-and-in-laterality-disorders-in-humans
#1
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
https://www.readbyqxmd.com/read/28603940/outcome-of-prenatally-diagnosed-fetal-heterotaxy-a-systematic-review-and-meta-analysis
#2
REVIEW
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
https://www.readbyqxmd.com/read/28594083/fetal-echocardiographic-evaluation-in-cases-of-heterotaxy-syndrome
#3
Behnaz Moradi, Najme-Sadat Moosavi, Mohamad Ali Kazemi
No abstract text is available yet for this article.
June 8, 2017: Journal of Clinical Ultrasound: JCU
https://www.readbyqxmd.com/read/28566826/isomerism-in-the-setting-of-the-so-called-heterotaxy-the-usefulness-of-computed-tomographic-analysis
#4
Shumpei Mori, Robert H Anderson, Tatsuya Nishii, Kensuke Matsumoto, Rohit S Loomba
The most complex combinations of congenital cardiac malformations are found in the setting of bodily isomerism. The question remains, however, as to whether evidence of cardiac isomerism is always to be found in the setting of bodily isomerism, also known as "heterotaxy." We have previously shown that, when assessed on the basis of the extent of the pectinate muscles relative to the atrioventricular junctions, there is always isomerism of the atrial appendages in this setting. Doubt has been remained, however, as to whether these cardiac features can accurately be recognized during life...
May 2017: Annals of Pediatric Cardiology
https://www.readbyqxmd.com/read/28559696/the-determination-factors-of-left-right-asymmetry-disorders-a-short-review
#5
REVIEW
Andreea Catana, Adina Patricia Apostu
Laterality defects in humans, situs inversus and heterotaxy, are rare disorders, with an incidence of 1:8000 to 1:10 000 in the general population, and a multifactorial etiology. It has been proved that 1.44/10 000 of all cardiac problems are associated with malformations of left-right asymmetry and heterotaxy accounts for 3% of all congenital heart defects. It is considered that defects of situs appear due to genetic and environmental factors. Also, there is evidence that the ciliopathies (defects of structure or function) are involved in development abnormalities...
2017: Clujul Medical (1957)
https://www.readbyqxmd.com/read/28521020/mid-term-outcomes-in-unbalanced-complete-atrioventricular-septal-defect-role-of-biventricular-conversion-from-single-ventricle-palliation%C3%A2
#6
Meena Nathan, Sitaram Emani, Rinske IJsselhof, Hua Liu, Kimberlee Gauvreau, Pedro Del Nido
OBJECTIVES: Management strategy for unbalanced complete atrioventricular septal defects (CASVSDs) includes single-ventricle (SV) palliation and primary or staged biventricular (BiV) repair. More recently, BiV conversion (BiVC) from SV palliation and staged BiV recruitment (BiVR) have also been advocated. This study assesses mid-term outcomes in patients with unbalanced CASVSDs according to management strategy. METHODS: Consecutive patients with unbalanced CASVSDs who underwent surgery at a tertiary care centre from January 2000 to February 2016 with institutional review board approval...
May 18, 2017: European Journal of Cardio-thoracic Surgery
https://www.readbyqxmd.com/read/28458851/ivemark-syndrome-bronchial-compression-from-anomalous-pulmonary-venous-anatomy
#7
Pooja H Patel, Joel Hayden, Randy Richardson
Ivemark syndrome is a heterotaxy syndrome which affects multiple organs and affects roughly 1 in every 6000 deliveries. Specifically, it can cause total anomalous pulmonary venous return and cardiac defects, which ultimately lead to decreased life expectancy. In order to better understand the nature of cardiac structures, CT angiogram has been heavily relied upon as it also allows for 3D reconstruction and optimal visualization of those features. This specific case presents with an anomalous venous return accompanied by multi-organ right isomerism that was reconstructed with 3D CT angiogram to better visualize and understand the cardiopulmonary system, as well as contribute to a fund of knowledge in hopes of discovering a solution to this condition...
March 2017: Journal of Surgical Case Reports
https://www.readbyqxmd.com/read/28453807/attrition-in-patients-with-single-ventricle-and-trisomy-21-outcomes-after-a-total-cavopulmonary-connection
#8
Anastasios C Polimenakos, Sujata Subramanian, Chawki ElZein, Michel N Ilbawi
OBJECTIVES: Data are limited regarding the management of children with trisomy 21 (T21) syndrome and a functional single ventricle (FSV). We evaluated patients with T21 and a FSV who had a total cavopulmonary connection (TCPC). METHODS: From September 1999 to August 2012, 139 patients with a FSV underwent a TCPC. Sixty-five had unbalanced atrioventricular septal defect. Thirteen had T21. Three (of 13) had heterotaxy syndrome. The mean age at the Fontan operation was 27...
May 1, 2017: Interactive Cardiovascular and Thoracic Surgery
https://www.readbyqxmd.com/read/28419083/pneumococcal-vaccination-and-efficacy-in-patients-with-heterotaxy-syndrome
#9
Pei-Lan Shao, Mei-Hwan Wu, Jou-Kou Wang, Hui-Wen Hsu, Li-Min Huang, Shuenn-Nan Chiu
BackgroundPneumococcal vaccines, including pneumococcal polysaccharide vaccine (PPV) and pneumococcal conjugated vaccine (PCV), are crucial in preventing invasive pneumococcal diseases. We analyzed the pneumococcal vaccination rate, efficacy, and durability in patients with heterotaxy.MethodsAll patients with heterotaxy and CCHD who were followed up at our institution between 2010 and 2015 were included. Pneumococcal vaccine status and geometric mean concentration (GMC) of serotypes 6B, 14, 19F, and 23F were analyzed...
April 18, 2017: Pediatric Research
https://www.readbyqxmd.com/read/28381282/coronary-sinus-aneurysm-associated-with-multiple-venous-anomalies
#10
Guang Song, Ming Du, Weidong Ren, Ke Zhou, Lu Sun
BACKGROUND: Congenital anomalies of the venous system are rare, involve the inferior vena cava (IVC), a persistent left superior vena cava (PLSVC), and the left hepatic vein (LHV), and can make cardiac diagnostic and therapeutic procedures difficult. CASE PRESENTATION: We present a 67-year-old woman without heterotaxy syndrome associated with interruption of the left IVC that continued with the hemiazygos vein system, a PLSVC, and an anomalous LHV draining the into coronary sinus (CS)...
April 5, 2017: BMC Cardiovascular Disorders
https://www.readbyqxmd.com/read/28367761/segregating-bodily-isomerism-or-heterotaxy-potential-echocardiographic-correlations-of-morphological-findings
#11
Cornelia Tremblay, Rohit S Loomba, Peter C Frommelt, Donald Perrin, Diane E Spicer, Carl Backer, Robert H Anderson
BACKGROUND: Bodily isomerism, also referred to as heterotaxy, involves predominantly the thoracic organs, although other organs are usually abnormally positioned. Previously assessed on the basis of splenic anatomy, it is now understood that isomerism is better segregated on the basis of atrial appendage morphology. This allows for anticipation of associated findings. We aimed to assess the accuracy of segregation based on the morphology of the atrial appendages and other structures more easily identified by echocardiography...
April 3, 2017: Cardiology in the Young
https://www.readbyqxmd.com/read/28329229/isolated-severe-leftward-displacement-of-the-septum-primum-anatomic-and-3d-echocardiographic-findings-and-surgical-repair
#12
Fabio Cuttone, Khaled Hadeed, François Lacour-Gayet, Hugues Lucron, Sebastien Hascoet, Philippe Acar, Bertrand Leobon, Richard Van Praagh
OBJECTIVES: Leftward displacement of the septum primum is usually described as associated with hypoplastic left heart syndrome or visceral heterotaxy. This rare malformation results in partially or totally anomalous pulmonary venous drainage with a normal connection of the pulmonary veins to the left atrium, depending on the degree of septal shift. We report the 3D echocardiographic and anatomic findings as well as the surgical repair in a series of isolated severe leftward displacement of the septum primum, responsible for totally anomalous pulmonary venous drainage...
May 1, 2017: Interactive Cardiovascular and Thoracic Surgery
https://www.readbyqxmd.com/read/28294539/angiographically-detectable-thebesian-veins-are-a-dynamic-and-reversible-finding-in-the-setting-of-congenital-heart-disease
#13
Paul Tannous, Sunil J Ghelani, Audrey C Marshall, Diego Porras
OBJECTIVE: Angiographically detectable Thebesian veins (ThVs) are a rare finding sometimes associated with coronary steal and myocardial ischemia in adults, but there are limited data regarding prominent ThVs in the setting of complex congenital heart disease (CHD). This study represents the largest series to date describing the presence and temporal changes of angiographically detectable ThVs in children with CHD. METHODS: This is a single center case series describing the clinical characteristics and coronary anatomy in children with CHD and angiographicall detectable ThVs...
March 10, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28256002/a-case-of-prenatally-detected-left-isomerism-and-hemiazygos-continuation-of-inferior-vena-cava
#14
Behnaz Moradi, Najme-Sadat Moosavi, Mohamad Ali Kazemi, Ahmad-Reza Tahmasebpour, Farzaneh Fattahi Masrour
Heterotaxy syndromes are defined as the disorders that involve abnormal arrangement of viscera. We present a case of prenatally diagnosed left isomerism in a 30-year-old primigravida woman referred to our hospital for complex cardiac abnormality. Sonographic findings included heart block, unbalanced atrioventricular septal defect, interruption of the inferior vena cava with hemiazygos continuation, double superior vena cava, a right-sided stomach, and biliary atresia. The hemiazygos vein drained into the right atrium by the persistent left superior vena cava...
March 3, 2017: Journal of Clinical Ultrasound: JCU
https://www.readbyqxmd.com/read/28199048/practice-variability-in-management-of-infectious-issues-in-heterotaxy-a-survey-of-pediatric-cardiologists
#15
Rohit S Loomba, Gabrielle Geddes, Amanda J Shillingford, David A Hehir
BACKGROUND: Splenic dysfunction is common in heterotaxy syndrome, and increases the risk of bacteremia and bacteremia related mortality. Despite the risks associated with bacteremia in this setting, best practice guidelines for management of infectious concerns are lacking. We conducted a survey of pediatric cardiologists to characterize practice regarding the diagnosis of splenic dysfunction, approach to antibiotic prophylaxis, and management of possible bacterial infection. METHODS: A 22-item web-based survey was distributed via email to pediatric cardiologists in North America...
February 15, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28195132/analysis-of-craniocardiac-malformations-in-xenopus-using-optical-coherence-tomography
#16
Engin Deniz, Stephan Jonas, Michael Hooper, John N Griffin, Michael A Choma, Mustafa K Khokha
Birth defects affect 3% of children in the United States. Among the birth defects, congenital heart disease and craniofacial malformations are major causes of mortality and morbidity. Unfortunately, the genetic mechanisms underlying craniocardiac malformations remain largely uncharacterized. To address this, human genomic studies are identifying sequence variations in patients, resulting in numerous candidate genes. However, the molecular mechanisms of pathogenesis for most candidate genes are unknown. Therefore, there is a need for functional analyses in rapid and efficient animal models of human disease...
February 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28191656/utility-and-safety-of-combined-interventional-catheterization-and-electrophysiology-procedures-in-a-children-s-hospital
#17
S Yukiko Asaki, Jeffrey W Orcutt, Christina Y Miyake, Henri Justino, Caridad M de la Uz, Jeffrey J Kim, Santiago O Valdes, Athar M Qureshi
BACKGROUND: Interventional cardiac catheterization (cath) and electrophysiology (EP) procedures are not routinely performed together. There are several perceived barriers affecting this practice, though there are also advantages for both the patient and practitioner to a combined approach. METHODS: This was a single-center retrospective study reviewing combined cath and EP procedures with a preprocedural intention to intervene at Texas Children's Hospital from 2001 to 2014...
February 13, 2017: Pacing and Clinical Electrophysiology: PACE
https://www.readbyqxmd.com/read/28055329/percutaneous-transhepatic-fontan-kreutzer-completion-of-hepatic-vein-inclusion
#18
Ignacio Juaneda, Alejandro Peirone, Adolfo Ferrero Guadagnoli, Alejandro Contreras, Santiago Orozco, Juan Diaz, Christian Kreutzer
We report the case of an 11-year-old girl with heterotaxy syndrome, dextrocardia, and azygos continuation of an interrupted inferior vena cava who had developed pulmonary arteriovenous fistulas after a Kawashima procedure consisting of bilateral superior cavopulmonary anastomoses. She presented with profound cyanosis, fatigue, and failure to thrive. An operative procedure to direct hepatic vein effluent to the pulmonary circulation was performed with placement of an extracardiac conduit between the hepatic veins and the left pulmonary artery...
January 1, 2017: World Journal for Pediatric & Congenital Heart Surgery
https://www.readbyqxmd.com/read/27878633/cardiopulmonary-exercise-testing-in-fontan-patients-with-and-without-isomerism-heterotaxy-as-compared-to-patients-with-primary-ciliary-dyskinesia-and-subjects-with-structurally-normal-hearts
#19
COMPARATIVE STUDY
Rohit S Loomba, Michael Danduran, Kim G Nielsen, Astrid M Ring, Joshua Kovach, Robert H Anderson
Isomerism, also known as heterotaxy, is a clinical entity that impacts multiple organ systems both anatomically and functionally. The airways and lungs are involved in a great number of these patients, leading to increased sinopulmonary symptoms, increased need for oxygenation, and increased postoperative ventilatory support. Additionally, these patients often have congenital heart disease requiring Fontan palliation. What has not been previously described, and is the focus of this study, is the results of cardiopulmonary exercise testing in those who have undergone Fontan palliation with and without isomerism...
February 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/27864025/heterotaxy-syndrome-with-and-without-spleen-different-infection-risk-and-management
#20
Eva Piano Mortari, Anwar Baban, Nicoletta Cantarutti, Chiara Bocci, Rachele Adorisio, Rita Carsetti
No abstract text is available yet for this article.
June 2017: Journal of Allergy and Clinical Immunology
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