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https://www.readbyqxmd.com/read/28629280/absent-ductus-venosus-case-series-from-two-tertiary-centres
#1
Giuseppe Maria Maruotti, Gabriele Saccone, M D Andrea Ciardulli, Laura Letizia Mazzarelli, Vincenzo Berghella, M D Pasquale Martinelli
INTRODUCTION: Congenital absence of the ductus venosus (ADV) is a rare vascular anomaly often associated with fetal cardiac and extracardiac anomalies, aneuploidies, and hydrops. The prognosis depends on the patterns of abnormal venous circulation, on the associated malformations and on chromosomal aberrations. METHODS: We performed a retrospective audit of all consecutive cases with ADV referred in our centres and analysed the outcomes. RESULTS: A total of six cases with prenatally diagnosed ADV were identified...
June 19, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28627098/effect-of-concomitant-birth-defects-and-genetic-anomalies-on-infant-mortality-in-tetralogy-of-fallot
#2
Eric G Jernigan, Paula D Strassle, Rebecca C Stebbins, Robert E Meyer, Jennifer S Nelson
BACKGROUND: A substantial proportion of infants born with tetralogy of Fallot (TOF) die in infancy. A better understanding of the heterogeneity associated with TOF, including extracardiac malformations and chromosomal anomalies is vital to stratifying risk and optimizing outcomes during infancy. METHODS: Using the North Carolina Birth Defects Monitoring Program, infants diagnosed with TOF and born between 2003 and 2012 were included. Kaplan-Meier survival curves were used to estimate cumulative 1-year mortality, stratified by the presence of concomitant birth defects (BDs) and chromosomal anomalies...
June 19, 2017: Birth defects research
https://www.readbyqxmd.com/read/28626825/phace-s-syndrome-report-of-a-case-with-new-ocular-and-systemic-manifestations
#3
Raheleh Assari, Vahid Ziaee, Sasan Moghimi, Mohammad Reza Akbari, Arash Mirmohammadsadeghi
PURPOSE: To describe an infant with PHACE(S) syndrome [posterior fossa anomalies (P), hemangiomas (H), arterial anomalies (A), cardiac abnormalities and coarctation of aorta (C), eye abnormalities (E), and the sternal defects (S)] with unusual strabismus, congenital glaucoma, and new systemic manifestations. METHODS: A 6-month-old girl was referred with large hemangiomas on the left side of the face. RESULTS: In the ocular examination, right esotropia and hypotropia, and limitation of elevation in adduction in the right eye were seen...
June 2017: Journal of Current Ophthalmology
https://www.readbyqxmd.com/read/28614975/prenatal-diagnosis-of-fetal-right-and-left-congenital-ventricular-aneurysms
#4
Mamatha Gowda, Shree Bharathi, Monica Thiagarajan, Tripti Aneja
Congenital ventricular aneurysm is a rare cardiac malformation characterized by protrusion or out-pouching of a portion of the ventricular wall. The aneurysm usually has a broad based communication with the ventricular cavity and has to be differentiated from a diverticulum. Herein described are two such cases of left and right ventricular aneurysm each, diagnosed on prenatal ultrasound at 38 and 36 weeks of gestation respectively.
June 14, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28614263/misdiagnosed-anomalous-left-coronary-artery-from-the-pulmonary-artery-as-endocardial-fibroelastosis-in-infancy-a-case-series
#5
Fan Ma, Kaiyu Zhou, Xiaoqing Shi, Xiaoqing Wang, Yi Zhang, Yifei Li, Yimin Hua, Chuan Wang
INTRODUCTION: Anomalous left coronary artery from the pulmonary artery (ALCAPA) is a rare but severe congenital cardiac malformation. The prognosis mainly depends on the early and accurate diagnosis and treatment. However, without a typical and specific clinical manifestation in early stage, ALCAPA has a higher rate of false initial diagnosis. DIAGNOSTIC AND THERAPEUTIC PROCEDURE: Three infants with impaired left ventricle (LV) function, LV enlargement, mitral valve regurgitation (MR), and LV endocardium thickness were initially diagnosed as endocardial fibroelastosis (EFE)...
June 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28612139/anorectal-malformations-associated-congenital-anomalies-and-their-investigation-in-a-south-african-setting
#6
Elmarie Vd Merwe, S Cox, A Numanoglu
PURPOSE: This study was undertaken to investigate the types of anorectal malformations (ARM), incidence of associated abnormalities and investigative methods used in patients treated at Red Cross War Memorial Children's Hospital and to determine whether these are in keeping with recent literature. Mortality rates were also reviewed. METHODS: A retrospective review of patients with ARM between 1993 and 2016 was undertaken. Clinical notes were reviewed and correlated with radiology and cardiac databases...
June 13, 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/28606197/dynamic-four-dimensional-ct-angiography-for-the-assessment-of-pulmonary-perfusion-in-an-adult-patient-with-pulmonary-artery-occlusion-and-major-aortopulmonary-collateral-after-multistage-repair-of-fallot-s-pentalogy
#7
Dirk Loßnitzer, Stefan Baumann, Thomas Henzler
Dynamic CT angiography provides haemodynamic assessment combined with detailed information on complex cardiac anatomy in patients with congenital malformations such as multistage correction of Fallot's Pentalogy.
June 13, 2017: Cardiology in the Young
https://www.readbyqxmd.com/read/28605140/array-based-molecular-karyotyping-in-115-vater-vacterl-and-vater-vacterl-like-patients-identifies-disease-causing-copy-number-variations
#8
Rong Zhang, Florian Marsch, Franziska Kause, Franziska Degenhardt, Eeberhard Schmiedeke, Stefanie Märzheuser, Bernd Hoppe, Haitham Bachour, Thomas M Boemers, Matthias Schäfer, Nicole Spychalski, Jörg Neser, Johannes Leonhardt, Ferdinand Kosch, Benno Ure, Barbara Gómez, Martin Lacher, Oliver J Deffaa, Markus Palta, Boris Wittekindt, Katharina Kleine, Andrea Schmedding, Sabine Grasshoff-Derr, Amelie van der Ven, Stefanie Heilmann-Heimbach, Nadine Zwink, Ekkehart Jenetzky, Michael Ludwig, Heiko Reutter
BACKGROUND: The acronym VATER/VACTERL refers to the rare nonrandom association of the following component features (CF): vertebral defects (V), anorectal malformations (A), cardiac defects (C), tracheoesophageal fistula with or without esophageal atresia, renal malformations (R), and limb defects (L). Patients presenting with at least three CFs are diagnosed as having VATER/VACTERL association while patients presenting with only two CFs are diagnosed as having VATER/VACTERL-like phenotypes...
June 12, 2017: Birth defects research
https://www.readbyqxmd.com/read/28604469/case-report-of-cardiac-arrest-after-succinylcholine-in-a-child-with-muscle-eye-brain-disease
#9
Thomas Hackmann, David L Skidmore, Brian MacManus
Muscle-eye-brain disease is a rare autosomal recessive disorder characterized by congenital muscular dystrophy, ocular abnormalities, and brain malformation. We report an intraoperative hyperkalemic cardiac arrest following the administration of succinylcholine in a child with muscle-eye-brain disease. The disease was diagnosed only after this event. Our experience suggests that preoperative determinations of serum concentrations of lactate and creatine kinase may be useful if clinical signs consistent with myopathy are present...
June 8, 2017: A & A Case Reports
https://www.readbyqxmd.com/read/28603431/hereditary-hemorrhagic-telangiectasia-and-pregnancy-potential-adverse-events-and-pregnancy-outcomes
#10
REVIEW
Omar Bari, Philip R Cohen
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant condition with a prevalence of ~1 in 5,000 individuals. The pathophysiology of this condition centers on the lack of capillary beds between arterioles and venules, leading to direct contact between these vessels. This results in telangiectases on characteristic locations such as the face, fingers, mouth, and nasal mucosa. Visceral arteriovenous malformations (AVMs) are also observed in many patients, and these are most commonly seen in the brain, gastrointestinal tract, and lungs...
2017: International Journal of Women's Health
https://www.readbyqxmd.com/read/28601011/developmental-toxicity-of-hydroxylated-chrysene-metabolites-in-zebrafish-embryos
#11
Graciel Diamante, Gabrielle do Amaral E Silva Müller, Norma Menjivar-Cervantes, Elvis Genbo Xu, David C Volz, Afonso Celso Dias Bainy, Daniel Schlenk
One of the primary sources of polycyclic aromatic hydrocarbons (PAHs) in marine environments is oil. Photochemical oxidation and microbial transformation of PAH-containing oils can result in the formation of oxygenated products. Among the PAHs in crude oil, chrysene is one of the most persistent within the water column and may be transformed to 2- and 6-hydroxychrysene (OHCHR). Both of these compounds have been shown to activate (2-OHCHR) and antagonize (6-OHCHR) the estrogen receptor (ER). Previous studies in our lab have shown that estrogen can significantly alter zebrafish development...
June 3, 2017: Aquatic Toxicology
https://www.readbyqxmd.com/read/28600851/neonatal-surgery-in-a-developing-country-outcome-of-co-ordinated-interdisciplinary-collaboration
#12
Sebastian O Ekenze, Victor O Modekwe, Obinna V Ajuzieogu, Isaac O Asinobi, Jubril Sanusi
AIM: Neonatal surgery in low-income and middle-income countries has a poorer outcome when compared with high-income countries. This study evaluated the management challenges and outcomes of neonatal surgery before and after the introduction of focused interdisciplinary team management in 2013. METHODS: We retrospectively analysed neonatal surgery undertaken at two referral hospitals in Enugu, south-eastern Nigeria from January 2011 to November 2015. Cases managed prior to July 2013 (group A) were compared with those managed from July 2013 (group B)...
June 10, 2017: Journal of Paediatrics and Child Health
https://www.readbyqxmd.com/read/28598570/the-outcome-of-isolated-prenatal-ventricular-size-disproportion-in-the-absence-of-aortic-coarctation
#13
A E L van Nisselrooij, L Rozendaal, I Linskens, S A Clur, J Hruda, E Pajkrt, C L van Velzen, N A Blom, M C Haak
OBJECTIVES: Ventricular size disproportion is a marker for aortic coarctation (CoA) in fetal life, however, approximately 50% of fetuses do not develop CoA after birth. The aim of this study was to evaluate the postnatal outcome of cases with ventricular disproportion in the absence of CoA in this cohort. METHODS: All cases with prenatal isolated ventricular size disproportion in the period 2002-2015 were extracted from a prenatal congenital heart defects (CHD) registry of a regional cohort...
June 9, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28598372/evaluation-of-the-cardiotoxicity-of-evodiamine-in-vitro-and-in-vivo
#14
Weifeng Yang, Lina Ma, Sidi Li, Kaiyu Cui, Lei Lei, Zuguang Ye
Evodiamine is a bioactive alkaloid that is specified as a biomarker for the quality assessment of Evodia rutaecarpa (E. rutaecarpa) and for traditional Chinese medicines containing this plant. We previously reported that quantitative structure-activity modeling indicated that evodiamine may cause cardiotoxicity. However, previous investigations have indicated that evodiamine has beneficial effects in patients with cardiovascular diseases and there are no previous in vitro or in vivo reports of evodiamine-induced cardiotoxicity...
June 9, 2017: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/28592338/prenatal-diagnosis-of-isolated-total-anomalous-systemic-venous-connection-to-the-left-atrium
#15
Béatrice Miltner, Alain Jean Poncelet, Catherine Barrea
We report the prenatal diagnosis and the neonatal follow-up of a patient with isolated total abnormal systemic venous connection to the left atrium. Right-sided and left-sided superior caval veins and the inferior caval vein were all connected to the left atrium. Pulmonary venous return was normal. This was associated with some right ventricular underdevelopment. To our knowledge, this is the first fetal description of this very rare congenital cardiac malformation.
June 8, 2017: Cardiology in the Young
https://www.readbyqxmd.com/read/28592182/perioperative-and-anesthetic-considerations-in-atrioventricular-septal-defect
#16
Faith J Ross, Viviane G Nasr, Denise Joffe, Gregory J Latham
Atrioventricular septal defect results from a failure of normal endocardial cushion fusion during embryologic cardiac development. This developmental aberration results in defects in the atrial and/or ventricular septum and malformation of the atrioventricular valves. The pathophysiology of atrioventricular septal defect is variable, and ranges from mild left to right shunting similar to a simple atrial septal defect to complex single-ventricle heart disease. This review focuses on the spectrum of atrioventricular septal defect from partial to complete, without associated cardiac defects...
June 1, 2017: Seminars in Cardiothoracic and Vascular Anesthesia
https://www.readbyqxmd.com/read/28591541/lithium-use-in-pregnancy-and-the-risk-of-cardiac-malformations
#17
COMPARATIVE STUDY
Elisabetta Patorno, Krista F Huybrechts, Brian T Bateman, Jacqueline M Cohen, Rishi J Desai, Helen Mogun, Lee S Cohen, Sonia Hernandez-Diaz
BACKGROUND: There has been concern that exposure to lithium early in pregnancy may be associated with a marked increase in the risk of Ebstein's anomaly (a right ventricular outflow tract obstruction defect) in infants and overall congenital cardiac defects, but data are conflicting and limited. METHODS: We conducted a cohort study involving 1,325,563 pregnancies in women who were enrolled in Medicaid and who delivered a live-born infant between 2000 and 2010. We examined the risk of cardiac malformations among infants exposed to lithium during the first trimester as compared with unexposed infants and, in secondary analyses, with infants exposed to another commonly used mood stabilizer, lamotrigine...
June 8, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28578896/severe-aortic-stenosis-in-dextrocardia-with-situs-invertus-and-anomalous-single-coronary-ostium-treated-with-transcatheter-aortic-valve-replacement
#18
Abdulah Alrifai, Mohamad Kabach, Lawrence Lovitz, Mark Rothenberg, Marcos Nores, Zaher Fanari
Dextrocardia with situs inversus presents a unique anatomy with right-sided vascular system that may be associated with a number of additional cardiac and vascular malformations. A rare association is the presence of a single coronary artery ostium. To our knowledge, this is the first reported case of transcatheter aortic valve replacement using Edwards SAPIEN S3 valve in Dextrocardia patient with single coronary artery take off.
May 8, 2017: Cardiovascular Revascularization Medicine: Including Molecular Interventions
https://www.readbyqxmd.com/read/28576437/feasibility-of-high-pitch-spiral-dual-source-ct-angiography-in-children-with-complex-congenital-heart-disease-compared-to-retrospective-gated-spiral-acquisition
#19
T Li, S Zhao, J Liu, L Yang, Z Huang, J Li, C Luo, X Li
AIM: To investigate the use of second-generation dual-source high-pitch computed tomography in obtaining confident diagnostic image quality using a low radiation dose in young patients with congenital heart disease (CHD). MATERIALS AND METHODS: From July 2014 to June 2016, 50 consecutive children <4 years with complex CHD underwent electrocardiography (ECG)-triggered dual-source computed tomography (CT). The patients were assigned randomly to two groups: high-pitch (pitch 3...
May 30, 2017: Clinical Radiology
https://www.readbyqxmd.com/read/28566940/high-output-cardiac-failure-due-to-hereditary-hemorrhagic-telangiectasia-a-case-of-an-extra-cardiac-left-to-right-shunt
#20
Patrick R Wu, Amber Horwith, Stephanie Mai, Milind Parikh, Gaurav Tyagi, Ramdas G Pai
High-output cardiac failure is a rare complication of hereditary hemorrhagic telangiectasia and can potentially be mistaken for other entities. We present a case of high-output cardiac failure because of large hepatic arteriovenous malformations, review the literature regarding the cardiac manifestations of the disease, and discuss the possible differential diagnoses.
June 2017: International Journal of Angiology: Official Publication of the International College of Angiology, Inc
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