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Heterotaxy

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https://www.readbyqxmd.com/read/29326834/ablation-of-atrial-fibrillation-in-patients-with-congenital-heart-disease
#1
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
https://www.readbyqxmd.com/read/29299107/the-missing-link-a-case-of-absent-pituitary-infundibulum-and-ectopic-neurohypophysis-in-a-pediatric-patient-with-heterotaxy-syndrome
#2
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
https://www.readbyqxmd.com/read/29290587/rapgef5-regulates-nuclear-translocation-of-%C3%AE-catenin
#3
John N Griffin, Florencia Del Viso, Anna R Duncan, Andrew Robson, Woong Hwang, Saurabh Kulkarni, Karen J Liu, Mustafa K Khokha
Canonical Wnt signaling coordinates many critical aspects of embryonic development, while dysregulated Wnt signaling contributes to common diseases, including congenital malformations and cancer. The nuclear localization of β-catenin is the defining step in pathway activation. However, despite intensive investigation, the mechanisms regulating β-catenin nuclear transport remain undefined. In a patient with congenital heart disease and heterotaxy, a disorder of left-right patterning, we previously identified the guanine nucleotide exchange factor, RAPGEF5...
December 27, 2017: Developmental Cell
https://www.readbyqxmd.com/read/29245220/case-report-of-intestinal-non-rotation-heterotaxy-and-polysplenia-in-a-patient-with-pancreatic-cancer
#4
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)
https://www.readbyqxmd.com/read/29228333/dnaaf1-links-heart-laterality-with-the-aaa-atpase-ruvbl1-and-ciliary-intraflagellar-transport
#5
Verity L Hartill, Glenn van de Hoek, Mitali P Patel, Rosie Little, Christopher M Watson, Ian R Berry, Amelia Shoemark, Dina Abdelmottaleb, Emma Parkes, Chiara Bacchelli, Katarzyna Szymanska, Nine V Knoers, Peter J Scambler, Marius Ueffing, Karsten Boldt, Robert Yates, Paul J Winyard, Beryl Adler, Eduardo Moya, Louise Hattingh, Anil Shenoy, Claire Hogg, Eamonn Sheridan, Ronald Roepman, Dominic Norris, Hannah M Mitchison, Rachel H Giles, Colin A Johnson
DNAAF1 (LRRC50) is a cytoplasmic protein required for dynein heavy chain assembly and cilia motility, and DNAAF1 mutations cause primary ciliary dyskinesia (PCD; MIM 613193). We describe four families with DNAAF1 mutations and complex congenital heart disease (CHD). In three families, all affected individuals have typical PCD phenotypes. However, an additional family demonstrates isolated CHD (heterotaxy) in two affected siblings, but no clinical evidence of PCD. We identified a homozygous DNAAF1 missense mutation, p...
December 7, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29212650/low-nasal-no-in-congenital-heart-disease-with-systemic-right-ventricle-and-postcardiac-transplantation
#6
Phillip S Adams, Maliha Zahid, Omar Khalifa, Brian Feingold, Cecilia W Lo
BACKGROUND: NO bioavailability has not been systematically examined in congenital heart disease (CHD). To assess NO in patients with CHD, we measured nasal NO (nNO) generated by the nasal epithelia, given blood NO is difficult to measure (half-life, <2 ms). Given NO's role in hemodynamic regulation and the association of NO bioavailability with heart failure risk, we hypothesized NO levels may differ with varying severity of CHD physiologic characteristics. METHODS AND RESULTS: Six-hundred eighteen subjects, 483 with CHD and 135 controls, had nNO measured noninvasively via the nares using American Thoracic Society/European Respiratory Society guidelines...
December 6, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/29169330/comparing-levocardia-and-dextrocardia-in-fetuses-with-heterotaxy-syndrome-prenatal-features-clinical-significance-and-outcomes
#7
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
https://www.readbyqxmd.com/read/29154821/heterotaxy-syndrome-and-associated-arrhythmias-in-pediatric-patients
#8
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: This study investigated the associations between arrhythmias, anatomy, and outcomes in a large HS cohort. METHODS: A single center retrospective review of patients diagnosed with HS ≤ 21 years of age was performed...
November 14, 2017: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/29094357/systematic-review-and-meta-analysis-of-the-performance-of-second-trimester-screening-for-prenatal-detection-of-congenital-heart-defects
#9
Christine L van Velzen, Johannes C F Ket, Peter M van de Ven, Nico A Blom, Monique C Haak
BACKGROUND: The prenatal detection rate of congenital heart defects (CHDs) is increasing, but reported rates vary. OBJECTIVE: To determine the performance of the second-trimester anomaly scan to detect CHD. SEARCH STRATEGY: PubMed and Embase were searched for relevant studies in any language from inception to February 3, 2017. The search terms included "prenatal diagnosis" or "pregnancy," "cardiovascular diseases" or "cardiac defects," "congenital," and "specificity," or "sensitivity," or "cohort study...
November 2, 2017: International Journal of Gynaecology and Obstetrics
https://www.readbyqxmd.com/read/29056267/airway-ciliary-dysfunction-association-with-adverse-postoperative-outcomes-in-nonheterotaxy-congenital-heart-disease-patients
#10
Eileen Stewart, Phillip S Adams, Xin Tian, Omar Khalifa, Peter Wearden, Maliha Zahid, Cecilia W Lo
OBJECTIVE: Heterotaxy (HTX) congenital heart disease (CHD) patients with ciliary dysfunction (CD) have been shown to have increased postoperative respiratory morbidity. We hypothesized that non-HTX CHD infants with CD also will have increased postoperative morbidity, particularly respiratory complications. METHODS: Sixty-three infants with non-HTX CHD undergoing cardiac surgery were enrolled. Tests commonly used to assess for CD, nasal nitric oxide (nNO) measurements and nasal epithelial ciliary motion (CM) assessment, were obtained...
September 20, 2017: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/29040450/dilated-cardiomyopathy-complicated-with-visceral-heterotaxy
#11
Masaki Tsuji, Eisuke Amiya, Masaru Hatano, Issei Komuro
No abstract text is available yet for this article.
October 13, 2017: European Heart Journal
https://www.readbyqxmd.com/read/28962659/polysplenia-syndrome-with-duodenal-and-pancreatic-dysplasia-in-a-holstein-calf-a-case-report
#12
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
https://www.readbyqxmd.com/read/28875963/an-infant-with-abernethy-malformation-associated-with-heterotaxy-and-pulmonary-hypertension
#13
Xiao-Lin Zhang, Xiao-Min Duan, Fang-Yun Wang, Xin Zhang, Yan Sun, Ning Ma, Zhong-Dong Du
No abstract text is available yet for this article.
September 20, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28858039/fulminant-haemophilus-influenzae-type-a-infection-in-a-4-year-old-with-previously-undiagnosed-asplenic-heterotaxy
#14
Andrew Headrick, Erinn O Schmit, David W Kimberlin
The post Hib-vaccine era has resulted in increased cases of invasive, non-Hib, Haemophilus influenzae infections. One of the encapsulated species, type a, displays the most similarity in virulence to type b. Our patient, a fully-vaccinated four-year-old female, with newly diagnosed asplenia in the setting of heterotaxy, had a prolonged hospital course with disseminated Haemophilus influenzae type a infection.
August 26, 2017: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/28741863/development-of-quality-metrics-for-ambulatory-pediatric-cardiology-infection-prevention
#15
Jonathan N Johnson, Cindy S Barrett, Wayne H Franklin, Eric M Graham, Nancy J Halnon, Brandy A Hattendorf, Catherine D Krawczeski, James J McGovern, Matthew J O'Connor, Amy H Schultz, Jeffrey M Vinocur, Devyani Chowdhury, Jeffrey B Anderson
INTRODUCTION: In 2012, the American College of Cardiology's (ACC) Adult Congenital and Pediatric Cardiology Council established a program to develop quality metrics to guide ambulatory practices for pediatric cardiology. The council chose five areas on which to focus their efforts; chest pain, Kawasaki Disease, tetralogy of Fallot, transposition of the great arteries after arterial switch, and infection prevention. Here, we sought to describe the process, evaluation, and results of the Infection Prevention Committee's metric design process...
July 25, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28696873/modified-aortic-uncrossing-procedure-a-novel-approach-for-norwood-palliation-of-complex-univentricular-congenital-heart-disease-with-a-circumflex-aorta
#16
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
https://www.readbyqxmd.com/read/28690992/diabetes-mellitus-due-to-agenesis-of-the-dorsal-pancreas-in-a-patient-with-heterotaxy-syndrome
#17
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
https://www.readbyqxmd.com/read/28621423/roles-of-the-cilium-associated-gene-ccdc11-in-left-right-patterning-and-in-laterality-disorders-in-humans
#18
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
#19
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
#20
LETTER
Behnaz Moradi, Najme-Sadat Moosavi, Mohamad Ali Kazemi
No abstract text is available yet for this article.
September 2017: Journal of Clinical Ultrasound: JCU
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