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ebstein syndrome

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https://www.readbyqxmd.com/read/29692378/outcomes-of-ebstein-s-anomaly-patients-treated-with-tricuspid-valvuloplasty-or-tricuspid-valve-replacement-experience-of-a-single-center
#1
Bin Li, Han-Song Sun, Shi-Wei Pan, Jian-Ping Xu
Background: The incidence of Ebstein's anomaly is extremely low, and except for the Mayo Clinic, no cardiac center has reported on a sufficient number of patients. The aim of our study was to report the outcomes of Ebstein's anomaly patients treated with tricuspid valvuloplasty (TVP) or tricuspid valve replacement (TVR). Methods: TVP or TVR was performed in 245 patients from July 2006 to April 2016. We reviewed patients' records and contacted patients via outpatient service and over the telephone...
May 5, 2018: Chinese Medical Journal
https://www.readbyqxmd.com/read/29679990/three-dimensional-echocardiographic-evaluation-of-ebstein-s-anomaly-of-the-tricuspid-valve-in-a-patient-with-hypoplastic-left-heart-syndrome
#2
Courtney Cassidy, Max B Mitchell, Pei-Ni Jone
We report three-dimensional imaging of a rare finding of Ebstein's anomaly of the tricuspid valve in a patient with hypoplastic left heart syndrome, which has been previously reported only by two-dimensional echocardiography. A fetal echocardiogram was performed at 19 weeks that showed a moderately hypoplastic left ventricle, severely hypoplastic mitral valve, a severely hypoplastic aortic valve, and a dysplastic tricuspid valve. Post Caesarean delivery at 40 weeks of gestation, a transthoracic echocardiogram confirmed the findings seen on the fetal echocardiogram...
April 22, 2018: Cardiology in the Young
https://www.readbyqxmd.com/read/29569399/identification-of-clinically-relevant-phenotypes-in-patients-with-ebstein-anomaly
#3
Rodrigo Cabrera, Marta Catalina Miranda-Fernández, Victor Manuel Huertas-Quiñones, Marisol Carreño, Ivonne Pineda, Carlos M Restrepo, Claudia Tamar Silva, Rossi Quero, Juan David Cano, Diana Carolina Manrique, Camila Camacho, Sebastián Tabares, Alberto García, Néstor Sandoval, Karen Julieth Moreno Medina, Rodolfo José Dennis Verano
BACKGROUND: Ebstein anomaly (EA) is a heterogeneous congenital heart defect (CHD), frequently accompanied by diverse cardiac and extracardiac comorbidities, resulting in a wide range of clinical outcomes. HYPOTHESIS: Phenotypic characterization of EA patients has the potential to identify variables that influence prognosis and subgroups with distinct contributing factors. METHODS: A comprehensive cross-sectional phenotypic characterization of 147 EA patients from one of the main referral institutions for CHD in Colombia was carried out...
March 22, 2018: Clinical Cardiology
https://www.readbyqxmd.com/read/29326834/ablation-of-atrial-fibrillation-in-patients-with-congenital-heart-disease
#4
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/29305187/cardiac-arrest-and-ventricular-arrhythmia-in-adults-with-ebstein-anomaly-and-left-ventricular-non-compaction
#5
Magdalena Kumor, Magdalena Lipczyńska, Elzbieta Katarzyna Biernacka, Anna Klisiewicz, Anna Wójcik, Marek Konka, Katarzyna Kożuch, Piotr Szymański, Piotr Hoffman
BACKGROUND: Ebstein anomaly is a complex, congenital heart defect that is associated with a variety of cardiac abnormalities. Studies found a similar sarcomere gene mutation in patients with Ebstein anomaly (EA) and patients with isolated left ventricular non-compaction (LVNC). AIM: We aimed to show the prevalence of LVNC and its potential relationship with severe cardiac events (VT - ventricular tachycardia, cardiac arrest) in adult patients with EA. METHODS: We conducted a retrospective search of our institutional database from 2010 to 2014 for patients with EA and reviewed patients' medical records (age, sex, clinical presentation, electrocardiographic, echocardiographic, and CMR - cardiac magnetic resonance features)...
May 2018: Journal of Cardiology
https://www.readbyqxmd.com/read/29237676/familial-ebstein-anomaly-whole-exome-sequencing-identifies-novel-phenotype-associated-with-flna
#6
Catherine L Mercer, Gaia Andreoletti, Aisling Carroll, Anthony P Salmon, I Karen Temple, Sarah Ennis
BACKGROUND: Familial Ebstein anomaly is a rare form of congenital heart disease. We report 7 individuals among 2 generations of 1 family with Ebstein anomaly. This family was first reported in 1991 by Balaji et al in which family members were also reported to have a mild skeletal phenotype. The most likely mechanism of inheritance was concluded to be autosomal dominant. We sought to identify the genetic pathogenesis in this family using a next generation sequencing approach. METHODS AND RESULTS: Whole exome sequencing was performed in 2 cousins in this family using the Agilent SureSelect Human all Exon 51 Mb version 5 capture kit...
December 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/29216221/copy-number-variants-in-ebstein-anomaly
#7
Andreas Giannakou, Robert J Sicko, Wei Zhang, Paul Romitti, Marilyn L Browne, Michele Caggana, Lawrence C Brody, Laura Jelliffe-Pawlowski, Gary M Shaw, Denise M Kay, James L Mills
BACKGROUND: Ebstein anomaly (EA) is a rare congenital defect characterized by apical displacement of the septal tricuspid leaflets and atrialization of the right ventricle. The etiology of EA is unclear; however, recurrence in families and the association of EA with genetic syndromes and copy number variants (CNVs) suggest a genetic component. OBJECTIVE: We performed a population-based study to search for recurrent and novel CNVs in a previously unreported set of EA cases...
2017: PloS One
https://www.readbyqxmd.com/read/29165381/factors-associated-with-the-need-for-and-the-impact-of-extracorporeal-membrane-oxygenation-in-children-with-congenital-heart-disease-during-admissions-for-cardiac-surgery
#8
Salvatore Aiello, Rohit S Loomba
INTRODUCTION: This study aimed to determine factors associated with the need for extracorporeal membrane oxygenation (ECMO) in children with congenital heart disease (CHD) during admission for cardiac surgery (CS). A secondary aim was to determine how ECMO impacted length, cost, and mortality of the admission. METHODS: Data from the Kids' Inpatient Database (KIDS) were utilized. Admissions with CHD under 18 years of age with cardiac surgery were included. Need for ECMO in these admissions was then identified...
November 22, 2017: Children
https://www.readbyqxmd.com/read/29120021/swiss-adult-congenital-heart-disease-registry-sacher-rationale-design-and-first-results
#9
Daniel Tobler, Markus Schwerzmann, Judith Bouchardy, Reto Engel, Dominik Stambach, Christine Attenhofer Jost, Kerstin Wustmann, Fabienne Schwitz, Tobias Rutz, Harald Gabriel, Hans Peter Kuen, Christoph Auf der Maur, Angela Oxenius, Theresa Seeliger, Bruno Santos Lopes, Francesca Bonassin, Matthias Greutmann, On Behalf Of Sacher
BACKGROUND: In 2013, a prospective registry for adults with congenital heart disease (CHD) was established in Switzerland, providing detailed data on disease characteristics and outcomes: Swiss Adult Congenital HEart disease Registry (SACHER). Its aim is to improve the knowledge base of outcomes in adults with CHD. The registry design and baseline patient characteristics are reported. METHODS: All patients with structural congenital heart defects or hereditary aortopathies, followed-up at dedicated adult CHD clinics, are asked to participate in SACHER...
November 9, 2017: Swiss Medical Weekly
https://www.readbyqxmd.com/read/29021860/atriofascicular-mahaim-with-ebstein-anomaly-a-case-report
#10
Kazushi Ueshima, Yoshihide Nakamura, Satoru Takeno, Toshiharu Miyake, Tsukasa Takemura
We report a case of a 7-year-old girl with atriofascicular Mahaim (AFM) pathway concomitant with Ebstein's anomaly. The QRS wave showed left bundle branch block pattern on electrocardiogram. Holter electrocardiogram showed prolongation of the PR interval and QRS morphological change during sinus tachycardia. An electrophysiological study demonstrated that the distal His potential appeared earlier than the proximal His potential, which suggested retrograde His conduction toward the atrioventricular node. Conduction from the Mahaim fiber to the His bundle was faster than that from the atrioventricular node towards the His bundle...
October 2017: Journal of Arrhythmia
https://www.readbyqxmd.com/read/28919627/ebstein-s-anomaly-associated-with-atrial-septal-defect-and-wolff-parkinson-white-wpw-syndrome
#11
M N Hasan, K Ahmed, S M Ahmed, M M Rahman
Ebstein's anomaly is a rare congenital heart disorder, accounting for <1% of all cases of congenital heart disease. It is a congenital malformation of the heart that is characterized by apical displacement of the septal and posterior tricuspid valve leaflets, leading to atrialization of the right ventricle with a variable degree of malformation and displacement of the anterior leaflet. We report the case of a 25 years old female with Ebstein's anomaly which was associated with Ostium Secundum type of atrial septal defect and WPW syndrome, who presented with dyspnea, palpitations, cyanosis, clubbing and cardiomegaly...
July 2017: Mymensingh Medical Journal: MMJ
https://www.readbyqxmd.com/read/28666538/the-relevance-of-looking-for-right-bundle-branch-block-in-catheter-ablation-of-ebstein-s-anomaly
#12
Laila Gonzalez-Melchor, Santiago Nava, Pedro Iturralde, Manlio F Marquez
INTRODUCTION: Ebstein's anomaly is the most commonly occurring congenital defect associated with the Wolff-Parkinson-White syndrome. In patients with Ebstein's anomaly and supraventricular tachycardia, the absence of right bundle branch block (RBBB) in sinus rhythm is a highly sensitive and specific indicator of the presence of an ipsilateral accessory AP. CASE: We present an electrophysiology case of a patient with Ebstein's anomaly and 3 ipsilateral accessory pathways...
June 17, 2017: Journal of Electrocardiology
https://www.readbyqxmd.com/read/28426384/a-2-year-old-boy-with-circulatory-failure-owing-to-streptococcal-toxic-shock-syndrome-case-report
#13
Werner Keenswijk, Johan Vande Walle
A 2-year-old boy presented with severe hypotension and acute kidney injury after a prodrome of non-bloody diarrhoea and fever in the preceding 3 days. He had a mild Ebstein cardiac anomaly but otherwise a normal past history and growth. On examination, he looked ill, his temperature was 37.5 °C, circulation was poor, and there were several purpuric lesions on the face, hands and scrotum. Haemoglobin was 7.8 g/dL (11-14), total white cell count 27 × 10(9)/L, platelets 62 × 10(9)/L, blood urea nitrogen 20...
April 20, 2017: Paediatrics and International Child Health
https://www.readbyqxmd.com/read/28388435/de-novo-disruption-of-the-proteasome-regulatory-subunit-psmd12-causes-a-syndromic-neurodevelopmental-disorder
#14
Sébastien Küry, Thomas Besnard, Frédéric Ebstein, Tahir N Khan, Tomasz Gambin, Jessica Douglas, Carlos A Bacino, William J Craigen, Stephan J Sanders, Andrea Lehmann, Xénia Latypova, Kamal Khan, Mathilde Pacault, Stephanie Sacharow, Kimberly Glaser, Eric Bieth, Laurence Perrin-Sabourin, Marie-Line Jacquemont, Megan T Cho, Elizabeth Roeder, Anne-Sophie Denommé-Pichon, Kristin G Monaghan, Bo Yuan, Fan Xia, Sylvain Simon, Dominique Bonneau, Philippe Parent, Brigitte Gilbert-Dussardier, Sylvie Odent, Annick Toutain, Laurent Pasquier, Deborah Barbouth, Chad A Shaw, Ankita Patel, Janice L Smith, Weimin Bi, Sébastien Schmitt, Wallid Deb, Mathilde Nizon, Sandra Mercier, Marie Vincent, Caroline Rooryck, Valérie Malan, Ignacio Briceño, Alberto Gómez, Kimberly M Nugent, James B Gibson, Benjamin Cogné, James R Lupski, Holly A F Stessman, Evan E Eichler, Kyle Retterer, Yaping Yang, Richard Redon, Nicholas Katsanis, Jill A Rosenfeld, Peter-Michael Kloetzel, Christelle Golzio, Stéphane Bézieau, Paweł Stankiewicz, Bertrand Isidor
No abstract text is available yet for this article.
April 6, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28343629/biallelic-variants-in-otud6b-cause-an-intellectual-disability-syndrome-associated-with-seizures-and-dysmorphic-features
#15
Teresa Santiago-Sim, Lindsay C Burrage, Frédéric Ebstein, Mari J Tokita, Marcus Miller, Weimin Bi, Alicia A Braxton, Jill A Rosenfeld, Maher Shahrour, Andrea Lehmann, Benjamin Cogné, Sébastien Küry, Thomas Besnard, Bertrand Isidor, Stéphane Bézieau, Isabelle Hazart, Honey Nagakura, LaDonna L Immken, Rebecca O Littlejohn, Elizabeth Roeder, Bulent Kara, Katia Hardies, Sarah Weckhuysen, Patrick May, Johannes R Lemke, Orly Elpeleg, Bassam Abu-Libdeh, Kiely N James, Jennifer L Silhavy, Mahmoud Y Issa, Maha S Zaki, Joseph G Gleeson, John R Seavitt, Mary E Dickinson, M Cecilia Ljungberg, Sara Wells, Sara J Johnson, Lydia Teboul, Christine M Eng, Yaping Yang, Peter-Michael Kloetzel, Jason D Heaney, Magdalena A Walkiewicz
Ubiquitination is a posttranslational modification that regulates many cellular processes including protein degradation, intracellular trafficking, cell signaling, and protein-protein interactions. Deubiquitinating enzymes (DUBs), which reverse the process of ubiquitination, are important regulators of the ubiquitin system. OTUD6B encodes a member of the ovarian tumor domain (OTU)-containing subfamily of deubiquitinating enzymes. Herein, we report biallelic pathogenic variants in OTUD6B in 12 individuals from 6 independent families with an intellectual disability syndrome associated with seizures and dysmorphic features...
April 6, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28258242/successful-cardiac-transplantation-outcomes-in-patients-with-adult-congenital-heart-disease
#16
Jonathan N Menachem, Jessica R Golbus, Maria Molina, Jeremy A Mazurek, Nicole Hornsby, Pavan Atluri, Stephanie Fuller, Edo Y Birati, Yuli Y Kim, Lee R Goldberg, Joyce W Wald
OBJECTIVES: The purpose of our study is (1) to characterise patients with congenital heart disease undergoing heart transplantation by adult cardiac surgeons in a large academic medical centre and (2) to describe successful outcomes associated with our multidisciplinary approach to the evaluation and treatment of adults with congenital heart disease (ACHD) undergoing orthotopic heart transplantation (OHT). BACKGROUND: Heart failure is the leading cause of death in patients with ACHD leading to increasing referrals for OHT...
September 2017: Heart: Official Journal of the British Cardiac Society
https://www.readbyqxmd.com/read/28161232/-correctly-address-the-cause-of-hemophagocytic-lymphohistiocytosis
#17
M Penel-Page, B Ben Said, A Phan, L Hees, C Hartmann-Merlin, S Girard, Y Gillet, A Belot
Hemophagocytic lymphohistiocytosis (HLH) is a rare and severe syndrome usually associated with a cytotoxicity deficiency, which leads to an excess of immune response driven by activated macrophages and cytotoxic T cells. In children, HLH can be genetic, as part of a familial lymphohistiocytosis, or secondary: the most frequent causes are systemic-onset juvenile idiopathic arthritis, hematological malignancies, and severe infections, especially with Ebstein-Barr virus or leishmaniosis. We report on the case of a 3-year-old girl with no past medical history, who presented inaugural Pseudomonas aeruginosa maxillary osteitis, with secondary HLH...
March 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28132691/de-novo-disruption-of-the-proteasome-regulatory-subunit-psmd12-causes-a-syndromic-neurodevelopmental-disorder
#18
Sébastien Küry, Thomas Besnard, Frédéric Ebstein, Tahir N Khan, Tomasz Gambin, Jessica Douglas, Carlos A Bacino, William J Craigen, Stephan J Sanders, Andrea Lehmann, Xénia Latypova, Kamal Khan, Mathilde Pacault, Stephanie Sacharow, Kimberly Glaser, Eric Bieth, Laurence Perrin-Sabourin, Marie-Line Jacquemont, Megan T Cho, Elizabeth Roeder, Anne-Sophie Denommé-Pichon, Kristin G Monaghan, Bo Yuan, Fan Xia, Sylvain Simon, Dominique Bonneau, Philippe Parent, Brigitte Gilbert-Dussardier, Sylvie Odent, Annick Toutain, Laurent Pasquier, Deborah Barbouth, Chad A Shaw, Ankita Patel, Janice L Smith, Weimin Bi, Sébastien Schmitt, Wallid Deb, Mathilde Nizon, Sandra Mercier, Marie Vincent, Caroline Rooryck, Valérie Malan, Ignacio Briceño, Alberto Gómez, Kimberly M Nugent, James B Gibson, Benjamin Cogné, James R Lupski, Holly A F Stessman, Evan E Eichler, Kyle Retterer, Yaping Yang, Richard Redon, Nicholas Katsanis, Jill A Rosenfeld, Peter-Michael Kloetzel, Christelle Golzio, Stéphane Bézieau, Paweł Stankiewicz, Bertrand Isidor
Degradation of proteins by the ubiquitin-proteasome system (UPS) is an essential biological process in the development of eukaryotic organisms. Dysregulation of this mechanism leads to numerous human neurodegenerative or neurodevelopmental disorders. Through a multi-center collaboration, we identified six de novo genomic deletions and four de novo point mutations involving PSMD12, encoding the non-ATPase subunit PSMD12 (aka RPN5) of the 19S regulator of 26S proteasome complex, in unrelated individuals with intellectual disability, congenital malformations, ophthalmologic anomalies, feeding difficulties, deafness, and subtle dysmorphic facial features...
February 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28079865/differences-in-mortality-characteristics-in-neonates-with-down-s-syndrome
#19
MULTICENTER STUDY
C L Cua, U Haque, S Santoro, L Nicholson, C H Backes
OBJECTIVE: Neonates with Down's syndrome (nDS) may have multiple medical issues that place them at increased risk for mortality during the newborn period. Goal of this study was to determine if there are differences in baseline characteristics, medical complications or procedures performed during hospitalization between nDS who survived versus those who died during initial hospitalization. STUDY DESIGN: Data from 2000 to 2014 were reviewed using the Pediatric Health Information Systems (PHIS) database on all DS patients admitted to the hospital <30 days postnatal life...
April 2017: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/27741366/diverse-outcome-following-early-prenatal-diagnosis-of-pulmonary-stenosis
#20
M Bronshtein, Z Blumenfeld, A Khoury, A Gover
OBJECTIVE: To assess the natural history and outcome of fetal pulmonary stenosis (PS), particularly that detected at 14-17 weeks' gestation. METHODS: In this retrospective study we searched an electronic database of women from the general Israeli population attending a private ultrasound institute (Al-Kol ultrasound institute in Haifa) for routine complete early fetal ultrasound, including all fetal systems and a fetal echocardiogram, between 2004 and 2015. Ninety-seven percent of the women were at low risk of fetal malformations, and 3% had risk factors such as maternal Type-1 diabetes mellitus, exposure during pregnancy to teratogenic drugs, or anomalies in previous pregnancies or in other family members...
February 2017: Ultrasound in Obstetrics & Gynecology
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