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Atrial septal defect

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https://www.readbyqxmd.com/read/28817240/prenatal-presentation-of-mabry-syndrome-with-congenital-diaphragmatic-hernia-and-phenotypic-overlap-with-fryns-syndrome
#1
Kara K Reynolds, Jane Juusola, Gregory M Rice, Philip F Giampietro
We report on a family in which initial features were compatible with Fryns syndrome. The first sibling was a stillborn female with a left diaphragmatic hernia (DH). Her clinical features overlapped with Fryns syndrome. The second pregnancy, a male fetus, was followed for polyhydramnios, hypoplastic mandible, mild enlargement of the fetal bladder, hydronephrosis, and rocker bottom foot deformities. He had facial features similar to his sibling and a large cleft of the secondary palate, small jaw, and secundum atrial septal defect...
August 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28807863/prenatal-diagnosis-of-complex-phenotype-in-a-13-week-old-fetus-with-an-interstitial-multigene-deletion-20q13-13-q13-2-by-chromosomal-microarray
#2
Feodora Stipoljev, Danka Miric-Tesanic, Tomislav Hafner, Maja Barbalic, Monika Logara, Ruzica Lasan-Trcic, Ana Vicic, Romana Gjergja-Juraski
We report the first trimester three-dimensional ultrasonographic findings in a 13-week-old fetus with complex phenotype and a de novo 4.7 Mb multigene deletion encompassing chromosome region 20q13.13-q13.2 detected by chromosomal microarray. Fetal sonography detected radial-ray anomalies in the form of bilateral absence of thumbs and the left club hand deformity. The presence of single atrioventricular canal instead of the atrial septal defect typical for Holt-Oram syndrome pointed us to rather suspect the SALL4 related diseases...
August 11, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28801537/closure-of-secundum-atrial-septal-defects-with-the-amplatzer-septal-occluder-a-prospective-multicenter-post-approval-study
#3
Daniel R Turner, Carl Y Owada, Charlie J Sang, Muhammad Khan, D Scott Lim
BACKGROUND: Prospective data on the medium-term safety and effectiveness of the AMPLATZER Septal Occluder in clinical practice are not available. The objective of this study was to prospectively evaluate the risk of hemodynamic compromise and obtain medium-term survival data on patients implanted with the AMPLATZER Septal Occluder for percutaneous closure of secundum atrial septal defects. METHODS AND RESULTS: Subjects were enrolled prospectively at 50 US sites and followed for 2 years...
August 2017: Circulation. Cardiovascular Interventions
https://www.readbyqxmd.com/read/28796462/malformations-surveillance-comparison-between-findings-at-birth-and-age-1-year
#4
Emma G Thomas, Cathleen Higgins, Marie-Noel Westgate, Angela E Lin, Marlene Anderka, Lewis B Holmes
BACKGROUND: Malformations surveillance programs among newborn infants are used to determine the prevalence of congenital anomalies. A comparison in the same group of infants between the malformations detected at birth and those detected at 1 year of age will identify errors in the surveillance process and, also, the abnormalities more likely not to be detected at birth, but later in the first year of life. METHODS: The malformations identified at birth by Brigham and Women's Hospital (BWH) in the years 2000 and 2005 have been compared with the abnormalities detected in the same infants up to age 1 year by the Massachusetts Birth Defects Monitoring Program...
August 10, 2017: Birth defects research
https://www.readbyqxmd.com/read/28795038/indentation-in-the-right-ventricle-by-an-incomplete-pericardium-on-3-dimensional-reconstructed-computed-tomography
#5
Hak Ju Kim, Jae Gun Kwak
We report the case of a 17-year-old girl who presented with an indentation in the right ventricle caused by an incomplete pericardium on preoperative 3-dimensional reconstructed computed tomography. She was to undergo surgery for a partial atrioventricular septal defect and secundum atrial septal defect. Preoperative electrocardiography revealed occasional premature ventricular beats. We found the absence of the left side of the pericardium intraoperatively, and this absence caused strangulation of the diaphragmatic surface of the right ventricle...
August 2017: Korean Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28782319/electrocardiographic-changes-in-atrial-septal-defect
#6
Rathindranath Sarkar, Rudrajit Paul, Himadri Kole, Indrani Das, Jayati Mondal, Soura Mookerjee
No abstract text is available yet for this article.
June 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/28780843/-initial-study-of-transthoracic-echocardiography-guided-three-dimensional-printing-on-the-application-of-assessment-of-structural-heart-disease
#7
Y B Zhu, J S Liu, L Q Wang, X Guan, Y J Luo, J Geng, Q G Geng, Y J Lin, L X Zhang, X X Li, Y P Lu
Objective: To investigate the feasibility and diagnostic value of preoperative transthoracic echocardiography guided three dimensional printing model (TTE Guided 3DPM) on the assessment of structural heart disease (SHD). Methods: From February 2016 to October 2016, 44 patients underwent cardiac surgery in Tianjin Chest Hospital, forty-four patients were assessed preoperatively using TTE Guided 3DPM, including 25 males and 19 females, aged 3-75 years, with an average of (44±22) years. compared to conventional three dimensional transthoracic echocardiography (3D-TTE), and took direct intraoperative findings as "Golden Standard" simultaneously...
August 1, 2017: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/28780310/outcome-of-neonates-with-gastroschisis-at-different-gestational-ages-using-a-national-database
#8
Ruby Gupta, Erwin T Cabacungan
BACKGROUND/PURPOSE: The optimal time for delivery of neonates with a prenatal diagnosis of gastroschisis (GS) is controversial. We compared the outcomes for GS at three different gestational ages (GAs), 33-34 weeks, 35-36 weeks, and ≥ 37 weeks. METHODS: We analyze hospital discharge data of neonates with GS using the 2006, 2009 and 2012 Healthcare Cost and Utilization Project Kids' Inpatient Database (HCUPKIDS). Multivariable analysis was used to compare the association between GS outcomes and the three GAs...
July 22, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28774381/first-in-human-closed-chest-transcatheter-superior-cavopulmonary-anastomosis
#9
Kanishka Ratnayaka, John W Moore, Rodrigo Rios, Robert J Lederman, Sanjeet R Hegde, Howaida G El-Said
BACKGROUND: In the care of patients with congenital heart disease, percutaneous interventional treatments have supplanted many surgical approaches for simple lesions, such as atrial septal defect. By contrast, complex congenital heart defects continue to require open-heart surgery. In single-ventricle patients, a staged approach is employed, which requires multiple open-heart surgeries and significant attendant morbidity and mortality. A nonsurgical transcatheter alternative would be attractive...
August 8, 2017: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/28763732/exposure-to-air-pollution-and-noise-from-road-traffic-and-risk-of-congenital-anomalies-in-the-danish-national-birth-cohort
#10
Marie Pedersen, Ester Garne, Nete Hansen-Nord, Dorrit Hjortebjerg, Matthias Ketzel, Ole Raaschou-Nielsen, Anne-Marie Nybo Andersen, Mette Sørensen
BACKGROUND: Ambient air pollution has been associated with certain congenital anomalies, but few studies rely on assessment of fine-scale variation in air quality and associations with noise from road traffic are unexplored. METHODS: Among 84,218 liveborn singletons (1997-2002) from the Danish National Birth Cohort with complete covariate data and residential address history from conception until birth, we identified major congenital anomalies in 4018 children. Nitrogen dioxide (NO2) and noise from road traffic (Lden) burden during fetal life was modeled...
July 29, 2017: Environmental Research
https://www.readbyqxmd.com/read/28762298/cardiac-myxoma-clinical-characteristics-surgical-intervention-intra-operative-challenges-and-outcome
#11
Mahmoud Abu Abeeleh, Suhayl Saleh, Emad Alhaddad, Moaath Alsmady, Musa Alshehabat, Zuhair Bani Ismail, Islam Massad, Amjad Bani Hani, Sami Abu Halaweh
OBJECTIVE: The objectives of this retrospective study were to characterize the clinical presentation, diagnostic findings, surgical approaches, intra-operative challenges and complications following the surgical treatment of cardiac myxoma in two of the largest referral hospitals in Jordan. METHODS: Medical records of all patients presented to the cardiology department during the period between 1984 and 2016 were reviewed. Criteria for inclusion in the study were: (1) patients who were presented for cardiac evaluation due to symptoms suggestive of a primary cardiac problem, (2) completed medical records, including results of echocardiography suggestive of intra-cardiac occupying mass, (3) the surgical operation was undertaken and intra-operative data was available, (4) a histological diagnosis of myxoma was available and (5) the discharge status and follow-up data were available for at least 2 years after initial surgery...
July 1, 2017: Perfusion
https://www.readbyqxmd.com/read/28761454/meticulous-observations-essential-before-and-after-coil-embolization-of-pulmonary-arteriovenous-malformation-lessons-learned-from-two-case
#12
Ramin Heidari, Mohaddeseh Behjati, Abbas Balouchi
BACKGROUND: Endovascular coil embolization is an approved treatment for pulmonary arteriovenous malformation (AVM) but it brings high rate of thromboembolic complications with subsequent morbidity and mortality. Hereby, we report two cases of AVM coil embolization and management of their compilations. CASE REPORT: The first case was a 57-year-old male with five implanted coils in the lower lobe of right lung in which two of them were migrated soon after implantation...
January 2017: ARYA Atherosclerosis
https://www.readbyqxmd.com/read/28761211/holt-oram-syndrome-a-rare-variant
#13
Binoy Shankar, Euden Bhutia, Dinesh Kumar, Sunil Kishore, Shakti Pad Das
Holt-Oram syndrome is an autosomal dominant disorder, characterised by skeletal abnormalities of the upper limb associated with congenital heart defect, mainly atrial and ventricular septal defects. Skeletal defects exclusively affect the upper limbs in the preaxial radial ray distribution and are bilateral and asymmetrical. They range from clinodactyly, absent or digitalised thumb, hypoplastic or absent radii, and first metacarpal to hypoplastic ulna and carpal bone anomalies. Cardiac involvement ranges from asymptomatic conduction disturbances to multiple structural defects...
July 2017: Iranian Journal of Medical Sciences
https://www.readbyqxmd.com/read/28761023/a-comparison-of-the-in-vivo-neoendothelialization-and-wound-healing-processes-of-three-atrial-septal-defect-occluders-used-during-childhood-in-a-nonrandomized-prospective-trial
#14
Derya Aydın Şahin, Osman Başpınar, Ayşe Sülü, Tekin Karslıgil, Seval Kul
OBJECTIVE: We prospectively investigated the neoendothelialization of transcatheter secundum atrial septal defect (ASD) closure in children receiving one of three different occluders. METHODS: Transcatheter ASD closure was performed for 44 children. The patients were divided into three groups: group I: Amplatzer, group II: Lifetech CeraFlex, and group III: Occlutech Figulla Flex II septal occluder. The data were prospectively analyzed. Markers of the three phases of wound healing were studied in all patients before and on the 1st and 10th days and 1st month post intervention...
July 25, 2017: Anatolian Journal of Cardiology
https://www.readbyqxmd.com/read/28743482/adult-congenital-heart-disease-in-greece-preliminary-data-from-the-challenge-registry
#15
G Giannakoulas, K Vasiliadis, A Frogoudaki, C Ntellos, A Tzifa, S Brili, A Manginas, M Papaphylactou, D Parcharidou, N Kampourides, A Pitsis, A Chamaidi, M Kolios, G Papadopoulos, A Douras, P Davlouros, D Ntiloudi, H Karvounis, A Kalangos, C Tsioufis, S Rammos
BACKGROUND: The majority of patients with congenital heart disease (CHD), nowadays, survives into adulthood and is faced with long-term complications. We aimed to study the basic demographic and clinical characteristics of adult patients with congenital heart disease (ACHD) in Greece. METHODS: A registry named CHALLENGE (Adult Congenital Heart Disease Registry. A registry from Hellenic Cardiology Society) was initiated in January 2012. Patients with structural CHD older than 16years old were enrolled by 16 specialized centers nationwide...
July 13, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28743158/thrombus-formation-4-years-after-percutaneous-transcatheter-closure-of-an-atrial-septal-defect
#16
Akihisa Furuta, Mitsugi Nagashima, Hisashi Sugiyama, Takahiko Sakamoto, Kenji Yamazaki
No abstract text is available yet for this article.
July 25, 2017: Journal of Cardiac Surgery
https://www.readbyqxmd.com/read/28742285/variable-expressivity-and-incomplete-penetrance-in-a-large-family-with-non-classical-diamond-blackfan-anemia-associated-with-ribosomal-protein-l11-splicing-variant
#17
Colleen M Carlston, Zeinab A Afify, Janice C Palumbos, Heidi Bagley, Carlos Barbagelata, Whitney L Wooderchak-Donahue, Rong Mao, John C Carey
Diamond-Blackfan anemia (DBA) is a group of clinically and genetically heterogeneous bone marrow failure disorders with or without congenital anomalies. Variable expressivity and incomplete penetrance have been observed within affected families. Diamond-Blackfan anemia-7 (DBA7), caused by heterozygous mutations in ribosomal protein L11 (RPL11), accounts for approximately 5% of DBA. DBA7 is usually characterized by early-onset bone marrow failure often accompanied by congenital malformations, especially thumb defects...
July 25, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28738829/rare-association-of-two-cardiovascular-malformations-successfully-corrected-in-a-single-surgery-a-case-report
#18
Fu-Yang Mei, Zhi-Xuan Bai, Zhi-Bin Hu, Bing Zhou, Yong Cui
BACKGROUND: Partial anomalous pulmonary venous connection (PAPVC) without an atrial septal defect (ASD) associated with coarctation of the aortic arch is a rare congenital cardiac anomaly. This rare combination is only described in a few studies; none report the correction of these two malformations in a single surgery. CASE PRESENTATION: A 5-year-old girl was admitted to our hospital because the echocardiography revealed coarctation of the aortic arch; this diagnosis was confirmed by computed tomography (CT), which also showed her left superior pulmonary vein draining into the vertical vein without ASD (Fig...
July 24, 2017: Journal of Cardiothoracic Surgery
https://www.readbyqxmd.com/read/28737876/-acute-pericarditis-complicated-by-pericardial-effusion-in-a-pediatric-patient-case-report
#19
Daniel Palanca Arias, Elena G Corella Aznar, Ariadna Ayerza Casas, Alba Fernández Gómez, Marta López Ramón, Lorenzo Jiménez Montañés
Acute pericarditis is the most common disease of the pericardium encountered in clinical practice. It is diagnosed in 0.1% of all admissions and 5% of emergency room admissions for chest pain. In developed countries, it is usually due to a benign cause. Idiopathic and infectious pericarditis are more common than secondary to surgical pericardiotomy or neoplastic causes, whereas tuberculosis is the dominant cause in developing countries. The most common symptoms of pericarditis are characteristic chest pain and fever...
August 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28736822/congenital-heart-disease-and-cardiac-procedural-outcomes-in-patients-with-trisomy-21-and-turner-syndrome
#20
Raysa Morales-Demori
Congenital heart disease (CHD) is present in approximately 50% of patients with trisomy 21 (T21) and Turner syndrome (TS). According to the American Academy of Pediatrics, every patient with these genetic disorders should have a postnatal echocardiogram. T21 is usually associated with atrioventricular (30%-60%), atrial (16%-21%), or ventricular septal defects (14%-27%). TS is usually associated with left-sided heart disease. However, the spectrum of CHD in these genetic disorders is wider than those mentioned lesions...
July 24, 2017: Congenital Heart Disease
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