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https://www.readbyqxmd.com/read/28820011/unusual-complication-of-the-nuss-procedure-fistulization-of-the-internal-thoracic-artery-to-the-pulmonary-artery
#1
Michael C Mongé, David Wax, Katherine Barsness
Although minimally invasive repair of pectus excavatum has been shown to have a low complication rate in large series, several case reports have documented life-threatening complications, including bleeding and cardiac perforation. We present a rare case of an arteriovenous malformation from the internal thoracic artery to the pulmonary artery caused by occlusion of the internal thoracic artery by the Nuss bar followed by an unidentified angiogenic process. The patient became symptomatic and required transcatheter coil embolization...
January 1, 2017: World Journal for Pediatric & Congenital Heart Surgery
https://www.readbyqxmd.com/read/28819893/-cochlear-implantation-in-a-girl-with-7q-microdeletion-syndrome
#2
A Roemer, T Lenarz, A Lesinski-Schiedat
One of the rare genetic diseases with sensory hearing loss is the microdeletion 7q syndrome. First described in the 1990s, only 7 cases of patients with this disease are described in the literature. Although this mutation is not well known, otological treatment is necessary if the DFNA5 gene is affected. A mutation in this gene leads to progressive hearing loss. Affected children therefore need regular evaluation of their hearing to ensure adequate treatment with hearing aids at early stages. We now present a case of an affected child with sensory hearing loss, mental retardation and anogenital malformations...
August 17, 2017: HNO
https://www.readbyqxmd.com/read/28815806/evaluation-in-zebrafish-model-of-the-toxicity-of-rhodamine-b-conjugated-crotamine-a-peptide-potentially-useful-for-diagnostics-and-therapeutics
#3
Judy Yuet-Wa Chan, Hefeng Zhou, Yiu Wa Kwan, Shun Wan Chan, Gandhi Radis-Baptista, Simon Ming-Yuen Lee
Crotamine is defensin-like cationic peptide from rattlesnake venom that possesses anticancer, antimicrobial, and antifungal properties. Despite these promising biological activities, toxicity is a major concern associated with the development of venom-derived peptides as therapeutic agents. In the present study, we used zebrafish as a system model to evaluate the toxicity of rhodamine B-conjugated (RhoB) crotamine derivative. The lethal toxic concentration of RhoB-crotamine was as low as 4 μM, which effectively kill zebrafish larvae in less than 10 min...
August 16, 2017: Journal of Biochemical and Molecular Toxicology
https://www.readbyqxmd.com/read/28810087/multiple-pulmonary-arteriovenous-malformations-an-unusual-cause-of-shortness-of-breath-and-recurrent-strokes
#4
Kalyan C Potu, Shenjing Li, Shawn C Kelly, Julia A Prescott-Focht, Scott Pham
OBJECTIVE: To discuss an uncommon case of a patient with multiple pulmonary arteriovenous malformations (PAVMs) presenting with dyspnea on exertion and recurrent strokes. BACKGROUND: A 79-year-old woman with recent onset recurrent cerebrovascular accidents (CVAs) was referred to cardiology for evaluation of dyspnea on exertion. Clinical examination was unrevealing. METHODS: A transthoracic echocardiogram (TTE) with agitated saline was suggestive of an extra-cardiac shunt...
February 2017: South Dakota Medicine: the Journal of the South Dakota State Medical Association
https://www.readbyqxmd.com/read/28807900/heart-morphogenesis-gene-regulatory-networks-revealed-by-temporal-expression-analysis
#5
Jonathon T Hill, Bradley Demarest, Megan Smith, Bushra Gorsi, H Joseph Yost
During embryogenesis, the heart forms as a linear tube that then undergoes multiple simultaneous morphogenetic events to obtain its mature shape. To understand the gene regulatory networks (GRNs) driving this phase of heart development, during which many congenital heart disease malformations likely arise, we conducted an RNA-seq time course in zebrafish from 30 hpf to 72 hpf and identified 5,861 genes with altered expression. We then clustered the genes by temporal expression pattern, identified transcription factor binding motifs enriched in each cluster, and generated a model GRN for the major gene batteries in heart morphogenesis...
August 14, 2017: Development
https://www.readbyqxmd.com/read/28806758/developmental-vascular-remodeling-defects-and-postnatal-kidney-failure-in-mice-lacking-gpr116-adgrf5-and-eltd1-adgrl4
#6
Shun Lu, Shuya Liu, Astrid Wietelmann, Baktybek Kojonazarov, Ann Atzberger, Cong Tang, Ralph Theo Schermuly, Hermann-Josef Gröne, Stefan Offermanns
GPR116 (ADGRF5) and ELTD1 (ADGRL4) belong to different subfamilies of the adhesion G-protein-coupled receptor group but are both expressed in endothelial cells. We therefore analyzed their functions in mice lacking these receptors. While loss of GPR116 or ELTD1 alone had no obvious effect on cardiovascular or kidney function, mice lacking both, GPR116 and ELTD1, showed malformations of the aortic arch arteries and the cardiac outflow tract leading to perinatal lethality in about 50% of the mutants. In addition to cardiovascular malformations, surviving mice developed renal thrombotic microangiopathy as well as hemolysis and splenomegaly, and their lifespan was significantly reduced...
2017: PloS One
https://www.readbyqxmd.com/read/28803741/the-cardiovascular-toxicity-of-triadimefon-in-early-life-stage-of-zebrafish-and-potential-implications-to-human-health
#7
Hong-Cui Liu, Tian-Yi Chu, Li-Li Chen, Wen-Jun Gui, Guo-Nian Zhu
The health risk of triadimefon (TF) to cardiovascular system of human is still unclear, especially to pesticide suicides population, occupational population (farmers, retailers and pharmaceutical workers), and special population (young children and infants, pregnant women, older people, and those with compromised immune systems) who are at a greater risk. Therefore, firstly we explored the toxic effects and possible mechanism of cardiovascular toxicity induced by TF using zebrafish model. Zebrafish at stage of 48 h post fertilization (hpf) exposed to TF for 24 h exhibited morphological malformations which were further confirmed by histopathologic examination, including pericardial edema, circulation abnormalities, serious venous thrombosis and increased distance between the sinus venosus (SV) and bulbus arteriosus (BA) regions of the heart...
August 10, 2017: Environmental Pollution
https://www.readbyqxmd.com/read/28793912/re-evaluation-of-hypoplastic-left-heart-syndrome-from-a-developmental-and-morphological-perspective
#8
A Crucean, A Alqahtani, D J Barron, W J Brawn, R V Richardson, J O'Sullivan, R H Anderson, D J Henderson, B Chaudhry
BACKGROUND: Hypoplastic left heart syndrome (HLHS) covers a spectrum of rare congenital anomalies characterised by a non-apex forming left ventricle and stenosis/atresia of the mitral and aortic valves. Despite many studies, the causes of HLHS remain unclear and there are conflicting views regarding the role of flow, valvar or myocardial abnormalities in its pathogenesis, all of which were proposed prior to the description of the second heart field. Our aim was to re-evaluate the patterns of malformation in HLHS in relation to recognised cardiac progenitor populations, with a view to providing aetiologically useful sub-groupings for genomic studies...
August 10, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28792876/nad-deficiency-congenital-malformations-and-niacin-supplementation
#9
Hongjun Shi, Annabelle Enriquez, Melissa Rapadas, Ella M M A Martin, Roni Wang, Julie Moreau, Chai K Lim, Justin O Szot, Eddie Ip, James N Hughes, Kotaro Sugimoto, David T Humphreys, Aideen M McInerney-Leo, Paul J Leo, Ghassan J Maghzal, Jake Halliday, Janine Smith, Alison Colley, Paul R Mark, Felicity Collins, David O Sillence, David S Winlaw, Joshua W K Ho, Gilles J Guillemin, Matthew A Brown, Kazu Kikuchi, Paul Q Thomas, Roland Stocker, Eleni Giannoulatou, Gavin Chapman, Emma L Duncan, Duncan B Sparrow, Sally L Dunwoodie
BACKGROUND: Congenital malformations can be manifested as combinations of phenotypes that co-occur more often than expected by chance. In many such cases, it has proved difficult to identify a genetic cause. We sought the genetic cause of cardiac, vertebral, and renal defects, among others, in unrelated patients. METHODS: We used genomic sequencing to identify potentially pathogenic gene variants in families in which a person had multiple congenital malformations...
August 10, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28791777/mutations-in-the-katnb1-gene-cause-left-right-asymmetry-and-heart-defects
#10
M B Furtado, D J Merriner, S Berger, D Rhodes, D Jamsai, M K O'Bryan
BACKGROUND: The microtubule-severing protein complex katanin is composed two subunits, the ATPase subunit, KATNA1, and the non-catalytic regulatory subunit, KATNB1. Recently, the Katnb1 gene has been linked to infertility, regulation of centriole and cilia formation in fish and mammals, as well as neocortical brain development. KATNB1 protein is expressed in germ cells in humans and mouse, mitotic/meiotic spindles and cilia, although the full expression pattern of the Katnb1 gene has not been described...
August 9, 2017: Developmental Dynamics: An Official Publication of the American Association of Anatomists
https://www.readbyqxmd.com/read/28775059/basal-ganglia-t1-hyperintensity-in-hereditary-hemorrhagic-telangiectasia
#11
A Parvinian, V N Iyer, B S Pannu, D R Apala, C P Wood, W Brinjikji
BACKGROUND AND PURPOSE: The implications of basal ganglia T1 hyperintensity remain unclear in patients with hereditary hemorrhagic telangiectasia. This study was performed to assess the prevalence of this imaging finding in a large cohort of patients with hereditary hemorrhagic telangiectasia and to identify any association between this phenomenon and other disease manifestations. MATERIALS AND METHODS: In this retrospective study, we identified all patients at our institution diagnosed with definite hereditary hemorrhagic telangiectasia from 2001 to 2017...
August 3, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28763068/experience-in-the-corrective-treatment-of-patients-with-atrioventricular-septum
#12
Yuriria Olivares-Fernández, Áurea Zetina-Solórzano
INTRODUCTION: Atrioventricular septal defects are a wide spectrum of cardiac malformations, from partial until complete with one unique atrioventricular valve, atrioventricular valve communication, and leaky left heart valve. Its fast evolution to pulmonary vascular disease calls for early surgical management. Corrective treatment has a high percentage of re-operations and 8.6% mortality. OBJECTIVES: To describe the results of corrective treatments of atrioventricular septum defects in our institution's patients...
May 2017: Gaceta Médica de México
https://www.readbyqxmd.com/read/28761722/a-tbx5-3-utr-variant-increases-the-risk-of-congenital-heart-disease-in-the-han-chinese-population
#13
Feng Wang, Dong Liu, Ran-Ran Zhang, Li-Wei Yu, Jian-Yuan Zhao, Xue-Yan Yang, Song-Shan Jiang, Duan Ma, Bin Qiao, Feng Zhang, Li Jin, Yong-Hao Gui, Hong-Yan Wang
TBX5 is a vital transcription factor involved in cardiac development in a dosage-dependent manner. But little is known about the potential association of TBX5 3' untranslated region (UTR) variations with congenital cardiac malformations. This study aimed to investigate the relationship between TBX5 3'UTR variants and risk for congenital heart disease (CHD) susceptibility in two Han Chinese populations, and to reveal its molecular mechanism. The relationship between TBX5 3'UTR variants and CHD susceptibility was examined in 1 177 CHD patients and 990 healthy controls in two independent case-control studies...
2017: Cell Discovery
https://www.readbyqxmd.com/read/28759082/persistent-left-superior-vena-cava
#14
Kamil W Tyrak, Jakub Holda, Mateusz K Holda, Mateusz Koziej, Katarzyna Piatek, Wieslawa Klimek-Piotrowska
Persistent left superior vena cava (PLSVC) is the most common congenital malformation of thoracic venous return and is present in 0.3 to 0.5% of individuals in the general population. This heart specimen was dissected from a 35-year-old male cadaver whose cause of death was determined as non-cardiac. The heart was examined and we found a PLSVC draining into the coronary sinus. The right superior vena cava was present with a small-diameter ostium. An anomalous pulmonary vein pattern was observed; there was a common trunk to the left superior and left inferior pulmonary veins (diameter 17...
May 23, 2017: Cardiovascular Journal of Africa
https://www.readbyqxmd.com/read/28752325/single-stage-correction-for-taussig-bing-anomaly-associated-with-aortic-arch-obstruction
#15
Kai Luo, Jinghao Zheng, Shunmin Wang, Zhongqun Zhu, Botao Gao, Zhiwei Xu, Jinfen Liu
Taussig-Bing anomaly and aortic arch obstruction are two types of complex congenital cardiac malformations. Almost 50% of patients with Taussig-Bing anomaly have aortic arch obstruction. This report assesses the surgical outcomes of single-stage correction in neonates with both defects. Between November 2006 and November 2015, 39 neonates with Taussig-Bing anomaly and aortic arch obstruction (28 patients with coarctation of the aorta and 11 patients with interrupted aortic arch) underwent a one-stage arterial switch operation and aortic reconstruction...
July 27, 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/28748009/-isolated-double-chambered-right-ventricle-dcrv-a-case-study-conducted-at-the-national-university-hospital-cnhu-hkm-in-cotonou-benin
#16
Philippe Mahouna Adjagba, Arnaud Sonou, Léhila Bagnan Tossa, Léopold Codjo, Murielle Hounkponou, Salimatou Assani Moutaïrou, Yasmine Eyissè Kpossou, Latif Moussé, Yessoufou Tchabi, Jeanne Vehounkpé Sacca, Martin Dèdonougbo Houénassi
Double-chambered right ventricle (DCRV) is a very rare cardiac defect in which the right ventricle is divided by anomalous muscle bundle into two chambers. It is associated with other malformations in 80-90% of cases. Clinical presentation varies and depends on the extent of the intraventricular obstruction. We here report the case of a 16-year old teenager with isolated DCRV revealed by recurrent syncopes. The diagnosis was made using Doppler echocardiography. The patient underwent successful surgical resection of the abnormal muscle band...
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28744840/organ-dynamics-and-fluid-dynamics-of-the-hh25-chick-embryonic-cardiac-ventricle-as-revealed-by-a-novel-4d-high-frequency-ultrasound-imaging-technique-and-computational-flow-simulations
#17
Sheldon Ho, Germaine Xin Yi Tan, Toon Jin Foo, Nhan Phan-Thien, Choon Hwai Yap
Past literature has provided evidence that a normal mechanical force environment of blood flow may guide normal development while an abnormal environment can lead to congenital malformations, thus warranting further studies on embryonic cardiovascular flow dynamics. In the current study, we developed a non-invasive 4D high-frequency ultrasound technique, and use it to analyze cardiovascular organ dynamics and flow dynamics. Three chick embryos at stage HH25 were scanned with high frequency ultrasound in cine-B-mode at multiple planes spaced at 0...
July 25, 2017: Annals of Biomedical Engineering
https://www.readbyqxmd.com/read/28741709/prenatal-diagnosis-of-dural-sinus-malformation-in-a-fetus-presenting-with-general-oedema
#18
Michal Lipa, Przemyslaw Kosinski, Ritsuko K Pooh, Miroslaw Wielgos
Dural sinus malformation (DSM) is an extremely rare, congenital dilatation of the dural sinus pouch. DSM cases associated with arteriovenous shunt (AV shunt) usually have a poor pregnancy outcome due to an excessive hemodynamic load and progressive cardiac failure.
July 25, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28740468/evolution-of-precision-medicine-and-surgical-strategies-for-bicuspid-aortic-valve-associated-aortopathy
#19
Ali Fatehi Hassanabad, Alex J Barker, David Guzzardi, Michael Markl, Chris Malaisrie, Patrick M McCarthy, Paul W M Fedak
Bicuspid aortic valve (BAV) is a common congenital cardiac malformation affecting 1-2% of people. BAV results from fusion of two adjacent aortic valve cusps, and is associated with dilatation of the aorta, known as bicuspid valve associated aortopathy. Bicuspid valve aortopathy is progressive and associated with catastrophic clinical events, such as aortic dissection and rupture. Therefore, frequent monitoring and early intervention with prophylactic surgical resection of the proximal aorta is often recommended...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28738829/rare-association-of-two-cardiovascular-malformations-successfully-corrected-in-a-single-surgery-a-case-report
#20
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
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