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https://www.readbyqxmd.com/read/29345153/selective-serotonin-reuptake-inhibitor-use-in-pregnant-women-pharmacogenetics-drug-drug-interactions-and-adverse-effects
#1
Asher Ornoy, Gideon Koren
Possible negative effects of selective serotonin reuptake inhibitors (SSRIs) in pregnancy relate to congenital anomalies, negative perinatal events and neurodevelopmental outcome. Many studies are confounded by the underlying maternal disease and by pharmacogenetic and pharmacokinetic differences of these drugs. Areas covered: The possible interactions of SSRIs and serotonin and norepinephrine reuptake inhibitors with other drugs and the known effects of SSRIs on congenital anomalies, perinatal and neurodevelopmental outcome...
January 18, 2018: Expert Opinion on Drug Metabolism & Toxicology
https://www.readbyqxmd.com/read/29341296/the-five-year-survival-of-children-with-down-syndrome-in-norway-1994-2009-differed-by-associated-congenital-heart-defects-and-extracardiac-malformations
#2
Kristoffer Brodwall, Gottfried Greve, Elisabeth Leirgul, Kari Klungsøyr, Henrik Holmstrøm, Stein Emil Vollset, Nina Øyen
AIM: We investigated the prevalence of Down syndrome in a nationwide birth cohort, focusing on congenital heart defects, their associations with extracardiac malformations, and survival. METHODS: National registers were used to identify Norwegian births (1994-2009) and deaths (1994-2014) and updated with hospital diagnoses. We estimated birth defect frequencies in Down syndrome and the general population, the association between heart defects and extracardiac malformations and hazard ratios for death from different combinations of heart defects and extracardiac malformations...
January 17, 2018: Acta Paediatrica
https://www.readbyqxmd.com/read/29336632/m%C3%A3-bius-syndrome-with-cardiac-rhabdomyomas
#3
Aimee Verner, Swati Agarwal-Sinha, Frank Yanfeng Han
BACKGROUND: Möbius syndrome is a rare congenital condition which presents not merely with 6th and 7th nerve palsies, but involves gaze paresis associated with craniofacial, limb, and other abnormalities. Heterogeneity is well known in patients with Möbius syndrome and rather than being of familial inheritance based on rare cases, it is much more recognized as a sporadic syndrome. We report an infant with features of congenital Möbius syndrome associated with cardiac rhabdomyomas in the absence of tuberous sclerosis...
January 16, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29334594/thoracic-aortic-aneurysm-in-patients-with-loss-of-function-filamin-a-mutations-clinical-characterization-genetics-and-recommendations
#4
Ming Hui Chen, Sangita Choudhury, Mami Hirata, Siri Khalsa, Bernard Chang, Christopher A Walsh
The frequency and gender distribution of thoracic aortic aneurysm as a cardiovascular manifestation of loss-of-function (LOF) X-linked FilaminA (FLNA) mutations are not known. Furthermore, there is very limited cardiovascular morbidity or mortality data in children and adults. We analyzed cardiac data on the largest series of 114 patients with LOF FLNA mutations, both children and adults, with periventricular nodular heterotopia (PVNH), including 48 study patients and 66 literature patients, median age of 22...
February 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29326803/treatment-of-early-stages-hodgkin-lymphoma-during-pregnancy
#5
Agustin Avilés, Maria-Jesus Nambo, Natividad Neri
Background: To assess maternal and fetal outcome of women and newborns who received chemotherapy during pregnancy to treat Hodgkin lymphoma (HL)in early stages (IA, IIA), we performed a retrospective analysis of a cohort of 44 pregnant women with HL and early stages, diagnosed and treated between 1988 to 2013, at a tertiary reference cancer center. Methods: We analyzed data on HL characteristics and treatment, with a particular attention to maternal and fetal complications; in children, we performed a longer follow-up to detect any anomaly in physical development, scholar performance, psychological, cardiac, neurological function, and intelligence tests...
2018: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/29321443/a-new-arena-in-cardiac-surgery-pediatric-coronary-artery-bypass-surgery
#6
Soichiro Kitamura
Prior to the 1970s, pediatric coronary artery bypass surgery (PCABS) was seldomly performed due to the lack of compelling surgical indications. The advent of coronary sequelae secondary to Kawasaki disease (KD) and the occurrence of coronary artery complications due to newly developed procedures, such as the arterial switch operation and early repair for intrinsic congenital coronary malformations, necessitated the development of PCABS. Because children grow rapidly and their life expectancy is very long, with increasing exercise capability requirements, the strategy for PCABS should differ from that for bypass surgery in adults...
2018: Proceedings of the Japan Academy. Series B, Physical and Biological Sciences
https://www.readbyqxmd.com/read/29318024/congenital-cranial-ventral-abdominal-hernia-peritoneopericardial-diaphragmatic-hernia-and-sternal-cleft-in-a-4-year-old-multiparous-pregnant-queen
#7
Camille Bismuth, Claire Deroy
Case summary: Cranial ventral midline hernias, most often congenital, can be associated with other congenital abnormalities, such as sternal, diaphragmatic or cardiac malformations. A 4-year-old multiparous queen with a substernal hernia was admitted for evaluation of a mammary mass. During CT examination, a bifid sternum, the abdominal hernia containing the intestines, spleen, omentum, three fetuses, a mammary mass and an incidental peritoneopericardial diaphragmatic hernia were identified...
July 2017: JFMS Open Reports
https://www.readbyqxmd.com/read/29317056/a-potentially-curative-fetal-intervention-for-hypoplastic-left-heart-syndrome
#8
Andrew T Hattam
Hypoplastic left heart syndrome (HLHS) encapsulates a spectrum of complex congenital cardiovascular malformations involving varying degrees of underdevelopment of the left-sided heart structures. However, despite improved survival rates since the introduction of staged surgical reconstruction, treatment options for HLHS remain palliative rather than curative. A major limiting factor in the development of definitive curative therapy for HLHS is an incomplete understanding of its pathogenesis. Currently, the aetiology HLHS is best conceptualised by the 'flow theory' of cardiogenesis, which states that normal cardiac development is reliant on the interrelationship of normal flow patterns of blood through the developing heart, and appropriate growth of the cardiac valves and myocardium...
January 2018: Medical Hypotheses
https://www.readbyqxmd.com/read/29315865/coronary-artery-bypass-grafting-in-children
#9
Ahmet Arnaz, Tayyar Sarioglu, Yusuf Yalcinbas, Ersin Erek, Riza Turkoz, Ayla Oktay, Arda Saygili, Dilek Altun, Ayse Sarioglu
BACKGROUND: We present our clinical experience with coronary artery bypass grafting (CABG) in children. METHODS: Ten children who underwent CABG between July 1995 and August 2017 were retrospectively analyzed. Data including congenital cardiac malformations, previous surgical procedures, age and sex, type of coronary complications, ischemic events preceding surgery, and ventricular function before and after CABG were recorded. RESULTS: The study population consisted of five males and five females with a median age of 2...
January 7, 2018: Journal of Cardiac Surgery
https://www.readbyqxmd.com/read/29313587/hereditary-haemorrhagic-telangiectasia-with-severe-anemia-and-recurrent-cns-infections
#10
Nrushen Peesapati, Pbpr Naidu, S Sunitha, P V Sivaram
Hereditary Haemorrhagic Telangiectasia, also known as Osler-Rendu-Weber disease is a rare autosomal dominant disorder affecting small vessels of multiple systems whose main pathological change is the presence of abnormal arteriovenous communications. Usually presents as skin and mucosal telangiectasias, epistaxis, gastrointestinal bleeding and visceral arteriovenous malformations. Although the epistaxis and gastrointestinal blood loss can result in anaemia, patients with hereditary haemorrhagic telangiectasia rarely presents as severe anaemia1 or CNS infections...
September 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/29310616/partial-trisomy-16q21%C3%A2-qter-due-to-an-unbalanced-segregation-of-a-maternally-inherited-balanced-translocation-46-xx-t-15-16-p13-q21-a-case-report-and-review-of-literature
#11
R Mishra, C S Paththinige, N D Sirisena, S Nanayakkara, U G I U Kariyawasam, V H W Dissanayake
BACKGROUND: Partial trisomy is often the result of an unbalanced segregation of a parental balanced translocation. Partial trisomy16q is characterized by a common, yet non-specific group of craniofacial dysmorphic features, and systemic malformations with limited post-natal survival. Most of the cases of partial trisomy 16q described in the scientific literature have reported only one, or less frequently two cardiac defects in the affected babies. Herein, we report a case of partial trisomy 16q21➔qter with multiple and complex cardiac defects that have not previously been reported in association with this condition...
January 8, 2018: BMC Pediatrics
https://www.readbyqxmd.com/read/29298686/a-single-center-experience-with-12-consecutive-cases-of-pregnancy-among-patients-with-membranous-ventricular-septal-aneurysm
#12
Kana Wang, Xiaodong Wang, Haiyan Yu, Xinghui Liu, Aiyun Xing, Yong You
BACKGROUND: Membranous ventricular septal aneurysm (MVSA) is a rare cardiac anomaly that can occur as an isolated entity or being associated with other cardiac malformations. Complications of MVSA include thromboembolism, arrhythmia, rupture, bacterial endocarditis, right ventricular outflow tract obstruction, and atrioventricular valve diseases.The success rate of pregnancy and delivery in patients with MVSA has not been reported in the literature. This study was to assess the clinical implications of this condition from our center's experience...
January 3, 2018: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/29290632/congenital-cystic-adenomatoid-malformation-diagnosed-during-first-trimester-ultrasound-scan
#13
Georges A Markou, Georgios Dafereras, Christophe Poncelet
BACKGROUND Congenital cystic adenomatoid malformation (CCAM) is mostly reported from the second trimester of pregnancy. We report a case of a microcystic type of CCAM that was suggested by routine ultrasound examination at a gestational age of 12 weeks. CASE REPORT First-trimester ultrasound screening revealed the presence of a hyperechoic image that occupied the whole of the right lung, without no other any associated complications. The cardiac and aorta deviations with diaphragmatic eversion associated with a poly-hydramnios had subsequently appeared...
January 1, 2018: American Journal of Case Reports
https://www.readbyqxmd.com/read/29290421/patient-specific-three-dimensional-printing-for-kommerell-s-diverticulum
#14
Xiaoning Sun, Hongqiang Zhang, Kai Zhu, Chunsheng Wang
BACKGROUND: Kommerell's diverticulum is a complex congenital malformation of aorta. Three-dimensional (3D) printing is an innovative manufacturing process that allows computer-assisted conversion of 3D imaging data into physical "printouts." The aim of this study was to explore the feasibility and impact of using patient-specific 3D-printed cardiac prototypes derived from computed tomography data on surgical decision-making and preoperative planning for Kommerell's diverticulum. METHODS: From April to August 2017, five patients with Kommerell's diverticulum were diagnosed and chosen for study...
December 26, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/29288861/resolution-of-tachyarrhythmia-following-posterior-fossa-decompression-surgery-for-chiari-malformation-type-i-a-case-report
#15
Christopher Elia, James Brazdzionis, Vartan Tashjian
INTRODUCTION: Chiari malformation type I (CM) commonly present with symptoms such as tussive headaches, paresthesias and in severe cases, corticobulbar dysfunction.3 However, patients may present with atypical symptoms lending to the complexity in this patient population. We present a case of a CM patient presenting with atypical cardiac symptoms and arrhythmias, all of which resolved after surgical decompression. CASE DESCRIPTION: A 31-year-old female presented with atypical chest pain, palpitations, tachycardia, headaches, and dizziness for 2 years...
December 27, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/29287130/a-brief-history-of-fetal-echocardiography-and-its-impact-on-the-management-of-congenital-heart-disease
#16
Dev Maulik, Navin C Nanda, Devika Maulik, Gustavo Vilchez
Congenital heart disease (CHD), the most common congenital malformation, is associated with adverse outcome. Development of fetal echocardiography has made prenatal diagnosis of CHD a reality, and in the process revolutionized its management. This historical review briefly narrates this development over the decades focusing on the emergence of the primary modalities of fetal echocardiography comprised of the time-motion mode, two-dimensional B-mode, spectral Doppler, color Doppler, and three- and four-dimensional cardiac imaging...
December 2017: Echocardiography
https://www.readbyqxmd.com/read/29286277/nomenclature-for-congenital-and-paediatric-cardiac-disease-the-international-paediatric-and-congenital-cardiac-code-ipccc-and-the-eleventh-iteration-of-the-international-classification-of-diseases-icd-11
#17
Rodney C G Franklin, Marie J Béland, Steven D Colan, Henry L Walters, Vera D Aiello, Robert H Anderson, Frédérique Bailliard, Jeffrey R Boris, Meryl S Cohen, J William Gaynor, Kristine J Guleserian, Lucile Houyel, Marshall L Jacobs, Amy L Juraszek, Otto N Krogmann, Hiromi Kurosawa, Leo Lopez, Bohdan J Maruszewski, James D St Louis, Stephen P Seslar, Shubhika Srivastava, Giovanni Stellin, Christo I Tchervenkov, Paul M Weinberg, Jeffrey P Jacobs
An internationally approved and globally used classification scheme for the diagnosis of CHD has long been sought. The International Paediatric and Congenital Cardiac Code (IPCCC), which was produced and has been maintained by the International Society for Nomenclature of Paediatric and Congenital Heart Disease (the International Nomenclature Society), is used widely, but has spawned many "short list" versions that differ in content depending on the user. Thus, efforts to have a uniform identification of patients with CHD using a single up-to-date and coordinated nomenclature system continue to be thwarted, even if a common nomenclature has been used as a basis for composing various "short lists"...
December 2017: Cardiology in the Young
https://www.readbyqxmd.com/read/29277952/a-tale-of-two-cases-of-pulmonary-arteriovenous-malformation-how-they-fared-after-cardiac-transplantation
#18
Bethany L Wisotzkey, Dari L Magyar, Thomas K Jones, Robert J Boucek, Lester C Permut, Mariska S Kemna, Yuk M Law
BACKGROUND: In single ventricle patients, aorticopulmonary collaterals (APCs) and pulmonary arteriovenous malformations (PAVMs) following superior cavopulmonary shunt (CPS) can complicate orthotopic heart transplant (OHT) by cyanosis and hemoptysis. Though PAVMs can regress with restoration of hepatic venous flow to the pulmonary circulation, the effects of hypoxemia on the "unconditioned" allograft are not known. CASES: Two patients with significant PAVMs after CPS were cyanotic following OHT...
December 26, 2017: Clinical Transplantation
https://www.readbyqxmd.com/read/29261186/genomic-study-of-severe-fetal-anomalies-and-discovery-of-greb1l-mutations-in-renal-agenesis
#19
Sarah Boissel, Catherine Fallet-Bianco, David Chitayat, Valérie Kremer, Christina Nassif, Françoise Rypens, Marie-Ange Delrue, Dorothée Dal Soglio, Luc L Oligny, Natalie Patey, Elisabeth Flori, Mireille Cloutier, David Dyment, Philippe Campeau, Aspasia Karalis, Sonia Nizard, William D Fraser, François Audibert, Emmanuelle Lemyre, Guy A Rouleau, Fadi F Hamdan, Zoha Kibar, Jacques L Michaud
PurposeFetal anomalies represent a poorly studied group of developmental disorders. Our objective was to assess the impact of whole-exome sequencing (WES) on the investigation of these anomalies.MethodsWe performed WES in 101 fetuses or stillborns who presented prenatally with severe anomalies, including renal a/dysgenesis, VACTERL association (vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities), brain anomalies, suspected ciliopathies, multiple major malformations, and akinesia...
October 26, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29251180/maternal-steroid-therapy-for-fetuses-with-immune-mediated-complete-atrioventricular-block-a-systematic-review-and-meta-analysis
#20
Andrea Ciardulli, Francesco D'Antonio, Elena Rita Magro-Malosso, Gabriele Saccone, Lamberto Manzoli, Mackenzy Radolec, Vincenzo Berghella
INTRODUCTION: To explore the effect of maternal fluorinated steroid therapy on fetuses affected by immune-mediated complete atrio-ventricular block (CAVB) in utero. MATERIAL AND METHODS: Pubmed, Embase, Cinahl and ClinicalTrials.gov databases were searched. Only studies reporting the outcome of fetuses with immune CAVB diagnosed on prenatal ultrasound without any cardiac malformations and treated with fluorinated steroids compared to those not treated were included...
December 17, 2017: Journal of Maternal-fetal & Neonatal Medicine
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