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https://www.readbyqxmd.com/read/28912723/increased-hemodynamic-load-in-early-embryonic-stages-alters-myofibril-and-mitochondrial-organization-in-the-myocardium
#1
Madeline Midgett, Claudia S López, Larry David, Alina Maloyan, Sandra Rugonyi
Normal blood flow is essential for proper heart formation during embryonic development, as abnormal hemodynamic load (blood pressure and shear stress) results in cardiac defects seen in congenital heart disease (CHD). However, the detrimental remodeling processes that relate altered blood flow to cardiac malformation and defects remain unclear. Heart development is a finely orchestrated process with rapid transformations that occur at the tissue, cell, and subcellular levels. Myocardial cells play an essential role in cardiac tissue maturation by aligning in the direction of stretch and increasing the number of contractile units as hemodynamic load increases throughout development...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28905509/de-novo-setd5-loss-of-function-variant-as-a-cause-for-intellectual-disability-in-a-10-year-old-boy-with-an-aberrant-blind-ending-bronchus
#2
Claire Green, Joshua Willoughby, Meena Balasubramanian
Although rare, 3p microdeletion cases have been well described in the clinical literature. The clinical phenotype includes; intellectual disability (ID), growth retardation, facial dysmorphism, and cardiac malformations. Advances in chromosome microarray (CMA) testing narrowed the 3p25 critical region to a 124 kb region, and recent Whole Exome Sequencing (WES) studies have suggested that the SETD5 gene contributes significantly to the 3p25 phenotype. Loss-of-Function (LoF) variants in SETD5 are now considered a likely cause of ID...
September 14, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28904928/prenatal-sonographic-diagnosis-of-hypoplastic-left-heart-syndrome
#3
Raghu Teja Sadineni, B Santh Kumar, N B Chander, Durga Mahita Boppana
Hypoplastic left heart syndrome (HLHS) represents a variety of cardiac malformations that may result from errors in the early stages of cardiac development. HLHS includes a wide spectrum of cardiac malformations including hypoplasia of the left ventricle, ascending aorta, hypoplasia, or atresia of the aortic and mitral valves. Over the recent years, the improved resolution of advanced equipment with awareness and increased performance of second-trimester ultrasound examinations for the assessment of fetal anomalies have helped in understanding the spectrum and have expanded our knowledge of HLHS...
July 2017: International Journal of Applied and Basic Medical Research
https://www.readbyqxmd.com/read/28902645/-a-rare-cause-of-cyanosis-in-childhood-pulmonary-arteriovenous-malformation
#4
Osman Güvenç, Murat Saygı, İbrahim Halil Demir, Ender Ödemiş
Pulmonary arteriovenous malformation, which is defined as the presence of an ab-normal connection between the pulmonary artery and pulmonary vein, is rarely seen. Although it generally presents as a congenital condition, it may be accompanied by hereditary hemorrhagic telangiectasia. Clinical signs vary according to the amount of shunt in proportion to the number and size of the fistulae. Patients may present with cyanosis and respiratory trouble. If the disease remains untreated, it may result in cardiac failure and ineffective endocarditis, thereby leading to the rupture of the an-eurysmal fistula...
September 2017: Türk Kardiyoloji Derneği Arşivi: Türk Kardiyoloji Derneğinin Yayın Organıdır
https://www.readbyqxmd.com/read/28893484/-renal-abnormalities-in-down-syndrome-a-review
#5
C Niamien-Attai, J Bacchetta, B Ranchin, D Sanlaville, P Cochat
Down syndrome (DS) is often associated with cardiac malformations, so that kidney damage is little known. The objective of this study was to present the diversity of renal abnormalities and their potential progression to chronic renal failure. Among congenital abnormalities of the kidney and urinary tract (CAKUT) abnormalities appear to be frequent: pyelectasis, megaureters, posterior urethra valves, as well as renal malformations such as renal hypoplasia, horseshoe kidney, or renal ectopia. Contributing factors to acute kidney failure have been described in patients with DS: bilateral lesions and minor renal injury, such as glomerular microcysts, tubular dilation, and immature glomeruli...
September 8, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28890382/in-vitro-genotoxicity-and-in-vivo-subchronic-evaluation-of-the-anti-inflammatory-pyrazole-compound-lqfm021
#6
Soraia Santa de Moura, Renato Ivan de Ávila, Lara Barroso Brito, Rhaul de Oliveira, Gisele Augusto Rodrigues de Oliveira, Francine Pazini, Ricardo Menegatti, Aline Carvalho Batista, Cesar Koppe Grisolia, Marize Campos Valadares
Scientific evidences have highlighted 5-(1-(3-fluorophenyl)-1H-pyrazol-4-yl)-2H-tetrazole (LQFM021) as a promising anti-inflammatory, analgesic and antinociceptive agent due to its effects on peripheral opioid receptors associated with activation of the nitric oxide/cGMP/KATP pathway. Despite these important pharmacological findings, toxicity data of LQFM021 are scarce. Thus, this study investigated the in vitro genotoxicity of LQFM021 through cytokinesis-block micronucleus assay (OECD Nº 487/2014). Moreover, zebrafish model was used to assess the embryotoxicity potential of LQFM021 using fish embryo toxicity test (OECD Nº 236/2013) with extended exposure to evaluate subchronic larval development...
September 7, 2017: Chemico-biological Interactions
https://www.readbyqxmd.com/read/28887276/moyamoya-vasculopathy-in-phace-syndrome-six-new-cases-and-review-of-the-literature
#7
REVIEW
Domenico Tortora, Mariasavina Severino, Andrea Accogli, Carola Martinetti, Nadia Vercellino, Valeria Capra, Andrea Rossi, Marco Pavanello
PHACE syndrome is a neurocutaneous disorder including posterior fossa malformations, hemangiomas, arterial lesions, cardiac defects, and eye abnormalities. PHACE arteriopathies may be progressive and have been recently categorized based on the risk of acute ischemic stroke, raising attention to the potentially devastating consequences of cerebrovascular complications in this syndrome. On the other hand, the natural history of arteriopathy in PHACE syndrome remains poorly understood. At the moment, there are no established surgical guidelines for high risk vasculopathies, including quasi-moyamoya, in this syndrome...
September 5, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28885685/gut-microbiota-derived-endotoxin-enhanced-the-incidence-of-cardia-bifida-during-cardiogenesis
#8
Jing Zhang, Guang Wang, Jia Liu, Lin-Rui Gao, Meng Liu, Chao-Jie Wang, Manli Chuai, Yongping Bao, Ge Li, Rui-Man Li, Yu Zhang, Xuesong Yang
Background Cytotoxicity and inflammation-associated toxic responses could be induced by bacterial lipopolysaccharides (LPS) in vitro and in vivo respectively. However, the mechanism involved in LPS-induced cardiac malformation in prenatal fetus is still unknown. Methods and results In this study, we demonstrated that LPS was induced in gut microbiota imbalance mice, and next, LPS exposure during gastrulation in the chick embryo increased the incidence of cardia bifida. Gene transfection and tissue transplantation trajectory indicated that LPS exposure restricted the cell migration of cardiac progenitors to primary heart field in gastrula chick embryos...
September 8, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/28881023/double-outlet-left-ventricle-with-a-bicuspid-pulmonary-valve-and-aortic-coarctation
#9
Feifei Sun, Miao Fan, Liping Huang, Weidong Ren, Dongyu Li
A double-outlet left ventricle (DOLV) is a rare congenital cardiac malformation. Here, we describe a case of DOLV with bicuspid pulmonary valve, aortic coarctation, and a subpulmonary ventricular septal defect in which both ventricles were well developed. The anatomic features were observed with echocardiography, and the diagnosis was confirmed at surgery. Many variations of DOLV have been described. The features of our case expand the spectrum of this entity and may provide new insight into its complex anatomy...
September 7, 2017: Journal of Clinical Ultrasound: JCU
https://www.readbyqxmd.com/read/28878577/echocardiographic-classification-and-surgical-approaches-to-double-outlet-right-ventricle-for-great-arteries-arising-almost-exclusively-from-the-right-ventricle
#10
Kun-Jing Pang, Hong Meng, Sheng-Shou Hu, Hao Wang, David Hsi, Zhong-Dong Hua, Xiang-Bin Pan, Shou-Jun Li
Selecting an appropriate surgical approach for double-outlet right ventricle (DORV), a complex congenital cardiac malformation with many anatomic variations, is difficult. Therefore, we determined the feasibility of using an echocardiographic classification system, which describes the anatomic variations in more precise terms than the current system does, to determine whether it could help direct surgical plans. Our system includes 8 DORV subtypes, categorized according to 3 factors: the relative positions of the great arteries (normal or abnormal), the relationship between the great arteries and the ventricular septal defect (committed or noncommitted), and the presence or absence of right ventricular outflow tract obstruction (RVOTO)...
August 2017: Texas Heart Institute Journal
https://www.readbyqxmd.com/read/28871637/deaths-and-end-of-life-decisions-differed-between-neonatal-and-paediatric-intensive-care-units-at-the-same-children-s-hospital
#11
Maartje C Snoep, Nicolaas J G Jansen, Floris Groenendaal
AIM: We compared neonatal deaths and end-of-life decisions in a neonatal intensive care unit (NICU) and paediatric intensive care unit (PICU) in a Dutch tertiary children's hospital. SUBJECTS: All 235 full-term infants who died within 28 days of life between 2003-2013 in the NICU (n=199) and PICU (n=36) were retrospectively studied. RESULTS: The median length of stay was three days in the NICU and seven days in the PICU (p=0.003). The main reasons for NICU stays were asphyxia (52...
September 4, 2017: Acta Paediatrica
https://www.readbyqxmd.com/read/28866385/t-cell-receptor-sequencing-reveals-decreased-diversity-18-years-after-early-thymectomy
#12
Judith Gudmundsdottir, Christina Lundqvist, Hanna IJspeert, Eva van der Slik, Sólveig Óskarsdóttir, Susanne Lindgren, Vanja Lundberg, Martin Berglund, Jenny Lingman-Framme, Esbjörn Telemo, Mirjam van der Burg, Olov Ekwall
Next generation T and B cell receptor sequencing in individuals 18 years after early thymectomy (n=11) due to congenital cardiac malformation reveals decreased diversity in both helper and cytotoxic T cell receptor repertoires whereas the B cell repertoire remains unaffected.
August 30, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28862244/isolated-left-sided-pulmonary-artery-agenesis-with-left-lung-hypoplasia-a-report-of-two-cases
#13
V Govindaraj, J Joseph, B Nagamalli Kumar, R Soman
Unilateral absence of pulmonary artery or pulmonary artery agenesis (UAPA) is a rare congenital malformation that can present as an isolated lesion or in association with other cardiac anomalies. Though congenital, presentation in adults are also reported. Most common presentation in adults is of exercise intolerance. The developing lung on the affected side is hypoplastic. Diagnosis of UAPA is established by imaging methods like CT and MRI . There is no specific treatment for this condition. Treatment depends on patients symptomatology, presence of pulmonary hypertension and collateral circulation...
August 31, 2017: Journal of Postgraduate Medicine
https://www.readbyqxmd.com/read/28858090/prenatal-ultrasonic-diagnosis-of-absent-pulmonary-valve-syndrome-a-case-report
#14
Wen-Jun Zhang, Zhong-Lei Zhang, Jun-Jie Chang, Xiao-Yu Song
RATIONALE: Absent pulmonary valve syndrome (APVS) is a rare congenital heart disease that is often associated with tetralogy of Fallot (TOF). Here, we report 2 cases of APVS associated with TOF diagnosed via fetal echocardiography and discuss their specific ultrasonographic characteristics. PATIENT CONCERNS: Two pregnant women with suspicion of fetal heart anomaly were referred from their local hospitals to our hospital for fetal malformation screening and detailed fetal echocardiography...
September 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28857995/transarterial-embolization-and-transmucosal-sclerotherapy-that-led-to-successful-deliveries-in-a-patient-with-symptomatic-arteriovenous-malformation-of-the-tongue
#15
Munezumi Fujita, Yuhei Yamamoto, Satoru Sasaki, Akihiko Oyama, Emi Funayama, Hiroshi Furukawa
Patients with arteriovenous malformations (AVMs) are at risk of significant hemorrhage and AVMs are especially difficult to manage in those desiring future pregnancy. Few patients with successful deliveries have been previously reported.The authors report an unusual case of AVM of the tongue in a pregnant woman who presented with massive pulsatile bleeding from a ruptured artery in the tongue in late gestation, this was thought to be caused by the changes in hormonal balance and the increase in cardiac output...
August 28, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28854362/loss-of-apela-peptide-in-mice-causes-low-penetrance-embryonic-lethality-and-defects-in-early-mesodermal-derivatives
#16
Laina Freyer, Chih-Wei Hsu, Sonja Nowotschin, Andrea Pauli, Junji Ishida, Keiji Kuba, Akiyoshi Fukamizu, Alexander F Schier, Pamela A Hoodless, Mary E Dickinson, Anna-Katerina Hadjantonakis
Apela (also known as Elabela, Ende, and Toddler) is a small signaling peptide that activates the G-protein-coupled receptor Aplnr to stimulate cell migration during zebrafish gastrulation. Here, using CRISPR/Cas9 to generate a null, reporter-expressing allele, we study the role of Apela in the developing mouse embryo. We found that loss of Apela results in low-penetrance cardiovascular defects that manifest after the onset of circulation. Three-dimensional micro-computed tomography revealed a higher penetrance of vascular remodeling defects, from which some mutants recover, and identified extraembryonic anomalies as the earliest morphological distinction in Apela mutant embryos...
August 29, 2017: Cell Reports
https://www.readbyqxmd.com/read/28854098/lithium-use-in-pregnancy-and-the-risk-of-cardiac-malformations
#17
LETTER
(no author information available yet)
New England Journal of Medicine, Volume 377, Issue 9, Page 893-894, August 2017.
August 31, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28838528/cardiac-lymphangioma-encasing-right-coronary-artery-in-an-infant
#18
Neha Bansal, Sara Haidar-El-Atrache, Henry L Walters, Daisuke Kobayashi
Cardiac lymphangioma is a rare primary benign tumor of the heart. We report a 3-year-old with cystic lymphangioma encasing the right coronary artery. Cardiac magnetic resonance imaging confirmed a intra-pericardial heterogeneous mass measuring 2.6 × 2.4 × 3.9 cm and situated right anterolateral to the ascending aorta and extending into the right atrioventricular groove. Furthermore, the right coronary artery traversed through the center of the mass. Surgical resection, on cardiopulmonary bypass, consisted of excision by skeletonizing the right coronary artery along the length of the mass...
September 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28838522/resection-of-a-giant-cardiac-lymphovenous-malformation-involving-the-right-atrioventricular-groove
#19
Peter Chiu, Amanda Edmonson, Zachary E Brewer, Y Joseph Woo
Lymphovenous malformations of the heart are rare, and optimal management is uncertain. We present a case of a 39-year-old gentleman with a giant symptomatic lymphovenous malformation involving the right atrium, ventricle, and coronary artery. Radical resection was performed with replacement of the tricuspid valve and bovine pericardial reconstruction of the atrium and ventricle. Additional coronary artery bypass grafting was performed to the acute marginal and distal right coronary artery. Radical resection for this benign process is feasible and may be considered given the possibility of recurrence seen with lymphatic malformations of other parts of the body...
September 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28836926/platypnoea-orthodeoxia-syndrome-in-the-elderly-a-difficult-to-make-diagnosis-of-intracardiac-right-to-left-shunt
#20
Enrico M Zardi, Silvia Spoto, Luciana Locorriere, Giulio Cacioli, Silvia Mazzaroppi, Bruno B Zobel, Germano Di Sciascio, Sebastiano Costantino
Introduction Platypnea-orthodeoxia syndrome is a combination of positional dyspnoea and hypoxemia; it is caused by several cardiac, pulmonary and hepatic diseases. Case presentation In this study, we describe a 77-year-old female affected by unexplained dizziness and hypoxia that exacerbated in upright position. After diagnosing platypnea-orthodeoxia syndrome and excluding all possible causes (liver cirrhosis, acute and chronic pulmonary diseases and arteriovenous malformations), the origin of the syndrome was individuated in the presence of a patent foramen ovale with right-to-left shunt...
January 1, 2017: Scottish Medical Journal
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