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https://www.readbyqxmd.com/read/29145433/maternal-folic-acid-supplementation-and-dietary-folate-intake-and-congenital-heart-defects
#1
Baohong Mao, Jie Qiu, Nan Zhao, Yawen Shao, Wei Dai, Xiaochun He, Hongmei Cui, Xiaojuan Lin, Ling Lv, Zhongfeng Tang, Sijuan Xu, Huang Huang, Min Zhou, Xiaoying Xu, Weitao Qiu, Qing Liu, Yawei Zhang
BACKGROUND: It has been reported that folic acid supplementation before and/or during pregnancy could reduce the risk of congenital heart defects (CHDs). However, the results from limited epidemiologic studies have been inconclusive. We investigated the associations between maternal folic acid supplementation, dietary folate intake, and the risk of CHDs. METHODS: A birth cohort study was conducted in 2010-2012 at the Gansu Provincial Maternity & Child Care Hospital in Lanzhou, China...
2017: PloS One
https://www.readbyqxmd.com/read/29145266/catheter-ablation-of-ventricular-arrhythmia-originating-from-isolated-outflow-tract-diverticulum-two-case-reports-and-literature-review
#2
Xinbin Zhou, Haibin Xu, Zhijun Wang
RATIONALE: Congenital ventricular diverticulum is a rare cardiac malformation with a prevalence of about 0.26% in unselected adult patients during other diagnostic procedures. Ventricular arrhythmia originating from outflow tract diverticulum is even rarer and its etiology, epidemiology and proper treatment still remain controversial. PATIENT CONCERNS: We present 2 cases of isolated outflow tract diverticulum incidentally revealed by cardiac angiography during catheter ablation for ventricular arrhythmia...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29136712/-long-term-outcome-and-prognostic-factors-in-pregnant-women-with-pulmonary-arterial-hypertension-associated-with-congenital-heart-disease
#3
Q T Ou, J K Lu, J Zhang, Y Chen, Q Li, J L Zhang
Objective: To investigate the perinatal outcome, risk factors and long-term outcome of pregnancy complicated with pulmonary arterial hypertension(PAH) and congenital heart diseases (CHD). Methods: Clinical data of 110 pregnant women who were diagnosed as PAH-CHD were retrospectively analyzed in the Department of Obstetrics and Gynecology and Surgical Intensive Care Unit at Beijing Anzhen Hospital from 2004 to 2013. The survival and treatment status were followed up. Results: 110 subjects consisted of 11 mild PAH, 33 moderate and 66 severe ones...
November 1, 2017: Zhonghua Nei Ke za Zhi [Chinese Journal of Internal Medicine]
https://www.readbyqxmd.com/read/29121837/triple-outlet-right-ventricle-with-duplication-of-the-aortic-root-and-intrapericardial-ascending-aorta
#4
Ashish Katewa, Balswaroop Sahu, Vishal Jain, Robert H Anderson
We present a case of a highly unusual congenital cardiac malformation, namely, triple outlet right ventricle with duplication of the aortic root and the intrapericardial component of the ascending aorta. A girl, aged five, presented with complaints of cyanosis and effort intolerance and was diagnosed with double-outlet right ventricle and subpulmonary infundibular stenosis. Intraoperatively, we noted that the aortic root was guarded by two separate aortic valves, oriented anteroposteriorly relative to each other, and separated within the right ventricle by a muscle bar...
January 1, 2017: World Journal for Pediatric & Congenital Heart Surgery
https://www.readbyqxmd.com/read/29116691/hyperbaric-oxygen-in-patients-with-ischemic-stroke-following-cardiac-surgery-a-retrospective-observational-trial
#5
Viktoria Heide-Marie Weixler, Ameli Elisabeth Yates, Markus Puchinger, Birgit Zirngast, Prisca Pondorfer, Beatrice Ratzenhofer-Komenda, Andrea Amegah-Sakotnik, Freyja-Maria Smolle-Juettner, Otto Dapunt
BACKGROUND: Hyperbaric oxygenation (HBO₂) involves breathing 100% oxygen under elevated ambient pressure in a hyperbaric chamber, thereby dissolving oxygen in the plasma. This results in an increase of arterial partial pressure of oxygen (pO₂). Though well established in experimental studies, HBO₂ treatment for ischemic stroke is still under discussion. METHODS: From 2002-2014 HBO₂ (2.2 bar, 90 minutes one/day; average number per patient: 4.7) was applied in 49 consecutive patients (32 males, 17 females, mean age: 68...
2017: Undersea & Hyperbaric Medicine: Journal of the Undersea and Hyperbaric Medical Society, Inc
https://www.readbyqxmd.com/read/29115093/a-case-of-multiple-cardiovascular-and-tracheal-anomalies-presented-with-wolff-parkinson-white-syndrome-in-a-middle-aged-adult
#6
Hyejin Shi, Sungmin Sohn, SungHo Wang, Sungrock Park, SangKi Lee, Song Yi Kim, Sun Young Jeong, Changhwan Kim
Congenital cardiovascular anomalies, such as dextrocardia, persistent left superior vena cava (SVC), and pulmonary artery (PA) sling, are rare disorders. These congenital anomalies can occur alone, or coincide with other congenital malformations. In the majority of cases, congenital anomalies are detected early in life by certain signs and symptoms. A 56-year-old man with no previous medical history was admitted due to recurrent wide QRS complex tachycardia with hemodynamic collapse. A chest radiograph showed dextrocardia...
December 2017: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/29114815/maternal-use-of-antiepileptic-agents-during-pregnancy-and-major-congenital-malformations-in-children
#7
Rebecca L Bromley, Jennifer Weston, Anthony G Marson
Clinical Question: Is maternal use of antiepileptic drugs during pregnancy associated with major congenital malformations in children? Bottom Line: Certain antiepileptic drugs were associated with increased rates of congenital malformations (eg, spina bifida, cardiac anomalies). Lamotrigine (2.31% in 4195 pregnancies) and levetiracetam (1.77% in 817 pregnancies) were associated with the lowest risk and valproate was associated with the highest risk (10.93% in 2565 pregnancies) compared with the offspring of women without epilepsy (2...
November 7, 2017: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/29110981/distributive-shock-in-a-neonate-with-diffuse-infantile-hepatic-hemangioma
#8
James Brown, Rajan Arora, Usha Sethuraman
BACKGROUND: Hemangiomas are common cutaneous findings on healthy infants. These vascular malformations are generally benign, though in rare circumstances they can potentially be fatal. This is particularly true when the hemangiomas are large or numerous and occurring in visceral organs. Previously unrecognized visceral hemangiomas are part of the differential for any neonate presenting unexpectedly in shock. CASE REPORT: A 10-day-old neonate presented to the pediatric emergency department with difficulty breathing...
October 27, 2017: Journal of Emergency Medicine
https://www.readbyqxmd.com/read/29106500/familial-co-occurrence-of-congenital-heart-defects-follows-distinct-patterns
#9
Sabrina G Ellesøe, Christopher T Workman, Patrice Bouvagnet, Christopher A Loffredo, Kim L McBride, Robert B Hinton, Klaartje van Engelen, Emma C Gertsen, Barbara J M Mulder, Alex V Postma, Robert H Anderson, Vibeke E Hjortdal, Søren Brunak, Lars A Larsen
Aims: Congenital heart defects (CHD) affect almost 1% of all live born children and the number of adults with CHD is increasing. In families where CHD has occurred previously, estimates of recurrence risk, and the type of recurring malformation are important for counselling and clinical decision-making, but the recurrence patterns in families are poorly understood. We aimed to determine recurrence patterns, by investigating the co-occurrences of CHD in 1163 families with known malformations, comprising 3080 individuals with clinically confirmed diagnosis...
July 2, 2017: European Heart Journal
https://www.readbyqxmd.com/read/29096983/chiari-malformation-may-increase-perivascular-cerebrospinal-fluid-flow-into-the-spinal-cord-a-subject-specific-computational-modelling-study
#10
Robert A Lloyd, David F Fletcher, Elizabeth C Clarke, Lynne E Bilston
Syringomyelia is associated with Chiari I malformation, although the mechanistic link is unclear. Studies have suggested that cerebrospinal fluid enters the spinal cord via the perivascular spaces, and that changes in the timing of the subarachnoid pressures may increase flow into the spinal cord. This study aims to determine how Chiari malformation and syringomyelia alter the subarachnoid space pressures and hence perivascular flow. Subject-specific models of healthy controls (N = 9), Chiari patients with (N = 7) and without (N = 8) syringomyelia, were developed from magnetic resonance imaging (MRI), to simulate the subarachnoid pressures...
October 25, 2017: Journal of Biomechanics
https://www.readbyqxmd.com/read/29096902/-paradoxical-embolism-myth-or-reality
#11
P Aubry, H Demian, E Brochet, J-M Juliard
Paradoxical embolism should be suspected in front of a clinical phenomenon of thromboembolism associated with an anatomical right-to-left shunt. Others potential cardiac sources of thromboembolism must be ruled out. Strokes constitute the most frequent clinical manifestations of paradoxical embolism. Right-to-left left shunts are in connection with intracardiac defects (atrial septal defect and patent foramen ovale) or pulmonary arteriovenous malformations. The probability that a discovered PFO is stroke-related can be evaluated by a score...
October 30, 2017: Annales de Cardiologie et D'angéiologie
https://www.readbyqxmd.com/read/29089047/whole-exome-sequencing-in-342-congenital-cardiac-left-sided-lesion-cases-reveals-extensive-genetic-heterogeneity-and-complex-inheritance-patterns
#12
Alexander H Li, Neil A Hanchard, Dieter Furthner, Susan Fernbach, Mahshid Azamian, Annarita Nicosia, Jill Rosenfeld, Donna Muzny, Lisa C A D'Alessandro, Shaine Morris, Shalini Jhangiani, Dhaval R Parekh, Wayne J Franklin, Mark Lewin, Jeffrey A Towbin, Daniel J Penny, Charles D Fraser, James F Martin, Christine Eng, James R Lupski, Richard A Gibbs, Eric Boerwinkle, John W Belmont
BACKGROUND: Left-sided lesions (LSLs) account for an important fraction of severe congenital cardiovascular malformations (CVMs). The genetic contributions to LSLs are complex, and the mutations that cause these malformations span several diverse biological signaling pathways: TGFB, NOTCH, SHH, and more. Here, we use whole exome sequence data generated in 342 LSL cases to identify likely damaging variants in putative candidate CVM genes. METHODS: Using a series of bioinformatics filters, we focused on genes harboring population-rare, putative loss-of-function (LOF), and predicted damaging variants in 1760 CVM candidate genes constructed a priori from the literature and model organism databases...
October 31, 2017: Genome Medicine
https://www.readbyqxmd.com/read/29072954/fetal-vascular-malperfusion
#13
REVIEW
Amer Heider
CONTEXT: - Fetal vascular malperfusion, also known as fetal thrombotic vasculopathy, remains an underrecognized pathologic finding and should be noted during placental evaluation. OBJECTIVE: - To review histologic findings, gain familiarity with the updated terminology, and to recognize important clinical associations with this entity. DATA SOURCES: - University of Michigan cases, PubMed search, multiple review articles including recent placental workshop group consensus statement, and selected book chapters...
November 2017: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/29071783/age-is-not-a-good-predictor-of-irreversibility-of-pulmonary-hypertension-in-congenital-cardiac-malformations-with-left-to-right-shunt
#14
Amir-Reza Hosseinpour, Marie-Hélène Perez, David Longchamp, Jacques Cotting, Nicole Sekarski, Michel Hurni, René Prêtre, Stefano Di Bernardo
OBJECTIVE: Congenital cardiac malformations with high pulmonary blood flow and pressure due to left-to-right shunts are usually repaired in early infancy for both the benefits of early relief of heart failure and the fear that the concomitant pulmonary hypertension may become irreversible unless these defects are corrected at an early age. Age, however, has been a poor predictor of irreversibility of pulmonary hypertension in our experience, which is presented here. DESIGN: A retrospective observational study...
October 25, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/29062381/a-rare-case-of-pulmonary-artery-sling-with-the-vacterl-association-in-a-20-month-old-infant
#15
Yazdan Ghandi, Akbar Shafiee, Mehrazad Sharifi, Najmeh Sadat Bolandnazar
The VACTERL association, co-occurrence of vertebral, anorectal, cardiac, tracheoesophageal, genitourinary, and limb malformations, is a rare congenital anomaly. Several cardiac anomalies have been reported as a part of the VACTERL association, particularly ventricular and atrial septal defects. Pulmonary artery sling is a rare congenital abnormality in which the left pulmonary artery arises from the right pulmonary artery. This anomaly is not frequently observed in the VACTERL association and has been rarely reported...
July 2017: Journal of Tehran Heart Center
https://www.readbyqxmd.com/read/29061637/unique-developmental-trajectories-and-genetic-regulation-of-ventricular-and-outflow-tract-progenitors-in-the-zebrafish-second-heart-field
#16
Noelle Paffett-Lugassy, Natasha Novikov, Spencer Jeffrey, Maryline Abrial, Burcu Guner-Ataman, Srinivasan Sakthivel, Caroline E Burns, C Geoffrey Burns
During mammalian embryogenesis, cardiac progenitor cells constituting the second heart field (SHF) give rise to the right ventricle and primitive outflow tract (OFT), the latter of which is particularly vulnerable to developmental malformations that underlie common congenital heart defects. In zebrafish, SHF progenitors produce half of the single ventricle's myocardium and contribute significantly to the OFT. Previous lineage tracing and mutant analyses suggested that SHF ventricular and OFT progenitors co-migrate to the arterial pole of the zebrafish heart tube soon after their specification in the nkx2...
October 23, 2017: Development
https://www.readbyqxmd.com/read/29049616/an-uncommon-variant-of-double-chambered-right-ventricle-masquerading-as-double-chambered-left-ventricle
#17
Nikolaos Baritakis, Nikolaos Grapsas, Andreas Kotsalos, Periklis Davlouros
We present a rare case of a double-chambered right ventricle masquerading as a double-chambered left ventricle, which was found incidentally on cardiac imaging in an adult female patient with atypical chest pain. The most common form of double-chambered right ventricle is characterized by compartmentalization of the right ventricle by muscular bands into 2 distinct chambers. The main features of this malformation are a pressure gradient between the 2 compartments, and the frequent (up to 90%) association with a membranous ventricular septal defect...
September 13, 2017: Interactive Cardiovascular and Thoracic Surgery
https://www.readbyqxmd.com/read/29045977/-clinical-and-genetic-characteristics-of-williams-beuren-syndrome-2-cases-report
#18
S Q Wang, Z X Yang, H Li
To explore the clinical and genetic characteristics of Williams-Beuren syndrome (WBS) and to raise awareness of the disease. The characteristics of clinical manifestations, personal history, cardiac ultrasound, brain magnetic resonance imaging (MRI), electroencephalogram (EEG) and chromosome detection results of two cases with WBS were analyzed. The two patients were both male and the age was 11 months and 1 day, and 9 months and 9 days, respectively. They both suffered from cardiovascular malformation: case one presented supravalvular aortic stenosis, and case two showed atrial septal defect and patent ductus arteriosus...
October 18, 2017: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
https://www.readbyqxmd.com/read/29044489/molecular-analysis-and-genotype-phenotype-correlation-of-diamond-blackfan-anemia
#19
O A Arbiv, G Cuvelier, R J Klaassen, C V Fernandez, N Robitaille, M G Steele, V Breakey, S Abish, J Wu, R Sinha, M Silva, L Goodyear, L Jardine, J H Lipton, C Corriveau-Bourque, J Brossard, B Michon, I Ghemlas, N Waespe, B Zlateska, L Sung, M Cada, Y Dror
Diamond-Blackfan anemia (DBA) features hypoplastic anemia and congenital malformations, largely caused by mutations in various ribosomal proteins. The aim of this study was to characterize the spectrum of genetic lesions causing DBA and identify genotypes that correlate with phenotypes of clinical significance. Seventy-four patients with DBA from across Canada were included. Nucleotide-level mutations or large deletions were identified in 10 ribosomal genes in 45 cases. The RPS19 mutation group was associated with higher requirement for chronic treatment for anemia than other DBA groups...
October 16, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/29042577/dual-source-computed-tomography-for-evaluating-pulmonary-artery-and-aorta-in-pediatric-patients-with-single-ventricle
#20
Meng-Xi Yang, Zhi-Gang Yang, Yi Zhang, Ke Shi, Hua-Yan Xu, Kai-Yue Diao, Ying-Kun Guo
To explore the accuracy of main pulmonary artery (MPA) and ascending aorta (AAO) image evaluation in pediatric patients with single ventricle (SV) by comparing dual-source computed tomography (DSCT) with echocardiography. Thirty-one children with SV were retrospectively enrolled. The stenosis, dilation, and location of MPA and AAO were independently evaluated by DSCT and echocardiography. The accompanying arterial malformations were also assessed by DSCT. For 17 patients undergoing cardiac catheterization, the DSCT-based diameters of MPA and AAO were correlated with their pressures as measured by catheterization...
October 17, 2017: Scientific Reports
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