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Congenital valve disease

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https://www.readbyqxmd.com/read/29028084/expression-and-clinical-significance-of-aquaporin-1-and-et-1-in-urine-of-children-with-congenital-hydronephrosis
#1
Y Yu, Y-F Kang, K-S Li, Z-H Chen, L Zhang, H-M Zhang, M Zhang
OBJECTIVE: Congenital hydronephrosis is induced by congenital obstruction of uretero pelvic junction, bladder vesicoureteral reflux, posterior urethral valve, stricture of ureter end and ureterocyst, which is extremely apt to cause end-stage renal failure in children. It becomes significant to explore the expression profile and clinical significance of aquaporin-1 (AQP-1) and ET-1 (endothelin-1) in the urine of children with congenital hydronephrosis. PATIENTS AND METHODS: 80 cases of children with congenital hydronephrosis were selected to be the observation group and another 40 cases of children with other diseases were served as control group...
September 2017: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/29026988/pulmonary-annular-motion-velocity-reflects-right-ventricular-outflow-tract-function-in-children-with-surgically-repaired-congenital-heart-disease
#2
Yasunobu Hayabuchi, Akemi Ono, Yukako Homma, Shoji Kagami
Right ventricular (RV) dysfunction is generally evaluated using analyses of tricuspid annular motion. However, it represents only one aspect of RV performance. Whether measuring pulmonary annular motion velocity could serve as a novel way to evaluate global RV and/or RV outflow tract (RVOT) performance in pediatric congenital heart disease (CHD) patients with surgically repaired RVOT was evaluated. In this prospective study, tissue Doppler-derived pulmonary annular motion velocity was measured in children (aged 2-5 years) with RVOT reconstruction (RVOTR group, n = 48) and age-matched healthy children (Control, n = 60)...
October 12, 2017: Heart and Vessels
https://www.readbyqxmd.com/read/29024827/left-ventricular-non-compaction-with-ebstein-anomaly-attributed-to-a-tpm1-mutation
#3
Aleksandra Nijak, Maaike Alaerts, Cuno Kuiperi, Anniek Corveleyn, Bert Suys, Bernard Paelinck, Johan Saenen, Emeline Van Craenenbroeck, Lut Van Laer, Bart Loeys, Aline Verstraeten
Left ventricular non-compaction (cardiomyopathy) (LVN(C)) is a rare hereditary cardiac condition, resulting from abnormal embryonic myocardial development. While it mostly occurs as an isolated condition, association with other cardiovascular manifestations such as Ebstein anomaly (EA) has been reported. This congenital heart defect is characterized by downward displacement of the tricuspid valve and leads to diminished ventricular size and function. In an autosomal dominant LVN(C) family consisting of five affected individuals, of which two also presented with EA and two others with mitral valve insufficiency, we pursued the genetic disease cause using whole exome sequencing (WES)...
October 9, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29020360/epidemiology-clinical-features-and-outcome-of-infective-endocarditis-due-to-abiotrophia-spp-and-granulicatella-spp-report-of-76-cases-2000-2015
#4
Adrián Téllez, Juan Ambrosioni, Jaume Llopis, Juan M Pericàs, Carles Falces, Manel Almela, Cristina Garcia de la Mària, Marta Hernandez-Meneses, Bàrbara Vidal, Elena Sandoval, Eduard Quintana, David Fuster, José M Tolosana, Francesc Marco, Asunción Moreno, José M Miro
Background: Infective endocarditis (IE) caused by Abiotrophia (ABI) and Granulicatella (GRA) is poorly studied. This work aims to describe and compare the main features of ABI and GRA IE. Methods: We performed a retrospective study of 12 IE institutional cases of GRA or ABI and of 64 cases published in the literature (overall, 38 ABI and 38 GRA IE cases). Results: ABI/GRA IE represented 1.51% of IE cases in our institution between 2000-2015, compared to 0...
August 19, 2017: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/28977206/repair-of-double-orifice-left-av-valve-dolavv-with-endocardial-cushion-defect-in-adult
#5
Vivek Velayudhan Pillai, Jayakumar Karunakaran
Double orifice left atrioventricular valve (DOLAVV) or double orifice mitral valve (DOMV) is a rare congenital cardiac anomaly manifesting either as an isolated lesion (mitral stenosis or mitral insufficiency) or in association with other congenital cardiac defects. Signs of mitral valve disease are usually present along with the symptoms of associated coexistent congenital heart diseases. Mitral insufficiency due to annular dilatation is seen when DOLAVV is associated with endocardial cushion defects. Surgical intervention like mitral valve repair or replacement is required in 50% of patients and yields good results...
July 2017: Brazilian Journal of Cardiovascular Surgery
https://www.readbyqxmd.com/read/28973759/down-klinefelter-syndrome-48-xxy-21-in-a-neonate-associated-with-congenital-heart-disease
#6
M A Rodrigues, L F Morgade, L F A Dias, R V Moreira, P D Maia, A F H Sales, P D Ribeiro
Double aneuploidy is considered a rare phenomenon. Herein, we describe a case of double aneuploidy 48,XXY,+21 in a neonate with congenital heart defects. The 28-day-old neonate male (23-year-old mother and 24-year-old father) was admitted to a neonatal intensive care unit owing to congenital heart disease. Echocardiography showed a complete atrioventricular septal defect with Rastelli type B and significant left ventricular failure, moderate atrioventricular valve regurgitation, right-sided heart failure, and preserved systolic function...
September 27, 2017: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28971577/development-of-quality-metrics-for-ambulatory-pediatric-cardiology-transposition-of-the-great-arteries-after-arterial-switch-operation
#7
Carissa M Baker-Smith, Karina Carlson, Jose Ettedgui, Takeshi Tsuda, K Anitha Jayakumar, Matthew Park, Nikola Tede, Karen Uzark, Craig Fleishman, David Connuck, Maggie Likes, Daniel J Penny
OBJECTIVE: To develop quality metrics (QMs) for the ambulatory care of patients with transposition of the great arteries following arterial switch operation (TGA/ASO). DESIGN: Under the auspices of the American College of Cardiology Adult Congenital and Pediatric Cardiology (ACPC) Steering committee, the TGA/ASO team generated candidate QMs related to TGA/ASO ambulatory care. Candidate QMs were submitted to the ACPC Steering Committee and were reviewed for validity and feasibility using individual expert panel member scoring according to the RAND-UCLA methodology...
October 2, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28966455/combined-mitral-and-aortic-valve-stenosis-caused-by-two-different-etiologies-rheumatic-and-congenital
#8
William C Roberts, Joshua K Dodderer
Described herein are five patients who had double left-sided cardiac valve replacement for mitral and aortic valve stenosis resulting from two different etiologies: rheumatic heart disease, the cause of the mitral stenosis, and congenital heart disease (bicuspid valve), the underlying cause of the aortic stenosis.
October 2017: Proceedings of the Baylor University Medical Center
https://www.readbyqxmd.com/read/28966329/cardiac-resynchronization-therapy-in-patients-with-ebstein-s-anomaly
#9
Genri Numata, Eisuke Amiya, Toshiya Kojima, Katsuhito Fujiu, Masaru Hatano, Masafumi Watanabe, Issei Komuro
Ebstein's anomaly is a rare congenital heart disease characterized by apical displacement of the septal and posterior tricuspid valve leaflets. It is often complicated with left ventricular (LV) dysfunction as well as right-sided abnormalities. On the other hand, in the presence of LV dysfunction, right ventricular pacing is likely to aggravate the diseased LV function, which is termed pacemaker-induced cardiomyopathy. Thus, deteriorating effects of RV pacing on cardiac function might be enhanced and result in pacemaker-induced cardiomyopathy in patients with Ebstein's anomaly, even if they have preserved LVEF...
September 30, 2017: International Heart Journal
https://www.readbyqxmd.com/read/28952468/balloon-angioplasty-as-a-modality-to-treat-children-with-pulmonary-stenosis-secondary-to-complex-congenital-heart-diseases
#10
Yan Gu, Mei Jin, Xiao-Fang Wang, Bao-Jing Guo, Wen-Hong Ding, Zhi-Yuan Wang, Ya-Hui Zhang
BACKGROUND: Pulmonary stenosis is common in children with complex congenital heart diseases. Proper management of this problem, especially postoperatively, is still controversial. This study was designed to assess the rate and determinants of success or failure of balloon angioplasty for such lesions. METHODS: Clinical and hemodynamic data from 40 pediatric patients (24 boys and 16 girls) with complex congenital heart diseases who underwent balloon angioplasty were reviewed retrospectively from January 2012 to December 2016...
September 27, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28947226/outcomes-of-thoracic-endovascular-aortic-repair-in-adult-coarctation-patients
#11
Salim Lala, Salvatore T Scali, Robert J Feezor, Satish Chandrekashar, Kristina A Giles, Javairiah Fatima, Scott A Berceli, Martin R Back, Thomas S Huber, Thomas M Beaver, Adam W Beck
BACKGROUND: Aortic coarctation (AC) is most commonly identified in pediatric patients; however, adults can present with late sequelae of untreated coarctation or complications of prior open repair. To date, there are limited data about the role of thoracic endovascular aortic repair (TEVAR) in this group of patients. The purpose of this analysis was to describe our experience with management of adult coarctation patients using TEVAR. METHODS: All TEVAR patients treated for primary coarctation or late sequelae of previous open repair (eg, pseudoaneurysm, recurrent coarctation or anastomotic stenosis related to index open coarctation repair) were reviewed...
September 22, 2017: Journal of Vascular Surgery
https://www.readbyqxmd.com/read/28938963/study-design-and-rationale-for-elpis-a-phase-i-iib-randomized-pilot-study-of-allogeneic-human-mesenchymal-stem-cell-injection-in-patients-with-hypoplastic-left-heart-syndrome
#12
RANDOMIZED CONTROLLED TRIAL
Sunjay Kaushal, Brody Wehman, Nicholas Pietris, Casey Naughton, Soren M Bentzen, Grace Bigham, Rachana Mishra, Sudhish Sharma, Luca Vricella, Allen D Everett, Kristopher B Deatrick, Sihong Huang, Helina Mehta, William A Ravekes, Naru Hibino, Darcy L Difede, Aisha Khan, Joshua M Hare
Despite advances in surgical technique and postoperative care, long-term survival of children born with hypoplastic left heart syndrome (HLHS) remains limited, with cardiac transplantation as the only alternative for patients with failing single ventricle circulations. Maintenance of systemic right ventricular function is crucial for long-term survival, and interventions that improve ventricular function and avoid or defer transplantation in patients with HLHS are urgently needed. We hypothesize that the young myocardium of the HLHS patient is responsive to the biological cues delivered by bone marrow-derived mesenchymal stem cells (MSCs) to improve and preserve right ventricle function...
October 2017: American Heart Journal
https://www.readbyqxmd.com/read/28929446/new-imaging-tools-in-cardiovascular-medicine-computational-fluid-dynamics-and-4d-flow-mri
#13
Keiichi Itatani, Shohei Miyazaki, Tokoki Furusawa, Satoshi Numata, Sachiko Yamazaki, Kazuki Morimoto, Rina Makino, Hiroko Morichi, Teruyasu Nishino, Hitoshi Yaku
Blood flow imaging is a novel technology in cardiovascular medicine and surgery. Today, two types of blood flow imaging tools are available: measurement-based flow visualization including 4D flow MRI (or 3D cine phase-contrast magnetic resonance imaging), or echocardiography flow visualization software, and computer flow simulation modeling based on computational fluid dynamics (CFD). MRI and echocardiography flow visualization provide measured blood flow but have limitations in temporal and spatial resolution, whereas CFD flow calculates the flow according to assumptions instead of flow measurement, and it has sufficiently fine resolution up to the computer memory limit, and it enables even virtual surgery when combined with computer graphics...
September 19, 2017: General Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28919627/ebstein-s-anomaly-associated-with-atrial-septal-defect-and-wolff-parkinson-white-wpw-syndrome
#14
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/28912039/acquired-heart-disease-superimposed-on-congenital-heart-disease
#15
D Luke Glancy
A 50-year-old man with a murmur since birth developed systemic arterial hypertension as an adult. He came to the hospital because of dyspnea. He had a pulmonic valve ejection click and a murmur of pulmonic stenosis. His echocardiogram showed biventricular hypertrophy, a flat ventricular septum, a D-shaped left ventricle, systolic doming of the pulmonic valve, and Doppler evidence of a 70 mm Hg peak systolic pressure gradient across the pulmonic valve and a peak right ventricular systolic pressure of 100 mm Hg...
August 12, 2017: American Journal of Cardiology
https://www.readbyqxmd.com/read/28911943/heterozygous-deletion-of-akt1-rescues-cardiac-contractility-but-not-hypertrophy-in-a-mouse-model-of-noonan-syndrome-with-multiple-lentigines
#16
Rajika Roy, Maike Krenz
Noonan Syndrome with Multiple Lentigines (NSML) is associated with congenital heart disease in form of pulmonary valve stenosis and hypertrophic cardiomyopathy (HCM). Genetically, NSML is primarily caused by mutations in the non-receptor protein tyrosine phosphatase SHP2. Importantly, certain SHP2 mutations such as Q510E can cause a particularly severe form of HCM with heart failure in infancy. Due to lack of insight into the underlying pathomechanisms, an effective custom-tailored therapy to prevent heart failure in these patients has not yet been found...
September 11, 2017: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/28901226/isolated-right-juxtaposition-of-the-atrial-appendages-in-adult-with-bicuspid-aortic-valve-stenosis
#17
Alaae Boutayeb, Fayçal Kenassi, Adil Bensouda, Lahcen Marmade
We report the case of a 30-year-old male who had symptomatic bicuspid aortic valve stenosis. Operative findings unexpectedly revealed right juxtaposition of the atrial appendages. This is a rare association, as juxtaposition of atrial appendages is generally associated with more complex forms of congenital heart disease. The patient underwent successful surgery with uneventful postoperative course.
September 2017: World Journal for Pediatric & Congenital Heart Surgery
https://www.readbyqxmd.com/read/28899955/natural-history-and-clinical-predictors-of-atrial-tachycardia-in-adults-with-congenital-heart-disease
#18
Pablo Ávila, José María Oliver, Pastora Gallego, Ana González-García, María José Rodríguez-Puras, Esther Cambronero, José Ruiz-Cantador, Ana Campos, Rafael Peinado, Raquel Prieto, Fernando Sarnago, Raquel Yotti, Francisco Fernández-Avilés
BACKGROUND: Atrial tachycardias (ATs) are a significant source of morbidity in adults with congenital heart disease (CHD). This study evaluates the incidence and clinical predictors of AT in a cohort of patients with CHD. METHODS AND RESULTS: We included 3311 adults (median age at entry 22.6 years, 50.6% males) with CHD (49% simple, 39% moderate, and 12% complex) prospectively followed up in a tertiary center for 37 607 person-years. Predictors of AT were identified by multivariable Cox regression analysis accounting for left truncation...
September 2017: Circulation. Arrhythmia and Electrophysiology
https://www.readbyqxmd.com/read/28894052/-three-surgical-cases-of-quadricuspid-aortic-valve
#19
Yoshikazu Motohashi, Takahiro Katsumata, Tatsuya Suzuki, Ryo Shimada, Hayato Konishi, Shinji Fukuhara, Sachiko Kanki, Masahiro Daimon, Hideki Ozawa, Shintaro Nemoto
Quadricuspid aortic valve is a rare congenital disease. We experienced 3 surgical cases of quadricuspid aortic valve. Patient 1 was a 72-year-old man who was noted to have a quadricuspid aortic valve associated with aortic regurgitation and an ascending aortic aneurysm(51 mm in diameter). He underwent replacement of the aortic valve and the ascending aorta. Patient 2 was a 71-year-old man with severe aortic stenosis, regurgitation, and coronary triple vessel disease. He underwent aortic valve replacement and coronary artery bypass grafting...
September 2017: Kyobu Geka. the Japanese Journal of Thoracic Surgery
https://www.readbyqxmd.com/read/28893484/-renal-abnormalities-in-down-syndrome-a-review
#20
C Niamien-Attai, J Bacchetta, B Ranchin, D Sanlaville, P Cochat
Down syndrome (DS) is often associated with cardiac malformations, so that kidney damage is little known. The objective of this study was to present the diversity of renal abnormalities and their potential progression to chronic renal failure. Among congenital abnormalities of the kidney and urinary tract (CAKUT) abnormalities appear to be frequent: pyelectasis, megaureters, posterior urethra valves, as well as renal malformations such as renal hypoplasia, horseshoe kidney, or renal ectopia. Contributing factors to acute kidney failure have been described in patients with DS: bilateral lesions and minor renal injury, such as glomerular microcysts, tubular dilation, and immature glomeruli...
September 8, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
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