keyword
MENU ▼
Read by QxMD icon Read
search

Cardiac congenital defects

keyword
https://www.readbyqxmd.com/read/29138508/fetal-cardiac-cine-magnetic-resonance-imaging-in-utero
#1
Jerome Chaptinel, Jerome Yerly, Yvan Mivelaz, Milan Prsa, Leonor Alamo, Yvan Vial, Gregoire Berchier, Chantal Rohner, François Gudinchet, Matthias Stuber
Fast magnetic resonance imaging (MRI) led to the emergence of 'cine MRI' techniques, which enable the visualization of the beating heart and the assessment of cardiac morphology and dynamics. However, established cine MRI methods are not suitable for fetal heart imaging in utero, where anatomical structures are considerably smaller and recording an electrocardiogram signal for synchronizing MRI data acquisition is difficult. Here we present a framework to overcome these challenges. We use methods for image acquisition and reconstruction that robustly produce images with sufficient spatial and temporal resolution to detect the heart contractions of the fetus, enabling a retrospective gating of the images and thus the generation of images of the beating heart...
November 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29137093/an-incidental-encounter-of-a-rare-high-take-off-right-coronary-artery-a-case-report
#2
Xicheng Deng, Peng Huang, Wenjuan Chen, Xiaohui Yang, Qianjun Liu, Yunbin Xiao, Cheng He
RATIONALE: High take-off of the coronary arteries is a rare cardiac anatomic anomaly, which may occur independently or with other congenital heart defects. In the clinical setting, it is noteworthy as a cause of sudden cardiac death. Further, it is vital to identify such anomalies to avoid intraoperative catastrophes in surgeries for congenital heart defects. PATIENT CONCERNS: A II/6 systolic heart murmur on physical examination was incidentally found in a 9-year-old boy; he was confirmed to have a secundum-type atrial septal defect on echocardiography...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29129255/regional-variation-in-quality-of-life-in-patients-with-a-fontan-circulation-a-multinational-perspective
#3
Nicholas D Fogleman, Silke Apers, Philip Moons, Stacey Morrison, Samuel G Wittekind, Martha Tomlin, Kathy Gosney, Maayke A Sluman, Bengt Johansson, Junko Enomoto, Mikael Dellborg, Chun-Wei Lu, Raghavan Subramanyan, Koen Luyckx, Werner Budts, Jamie Jackson, Adrienne Kovacs, Alexandra Soufi, Katrine Eriksen, Corina Thomet, Malin Berghammer, Edward Callus, Susan M Fernandes, Maryanne Caruana, Stephen C Cook, Andrew S Mackie, Kamila S White, Paul Khairy, Shelby Kutty, Gruschen Veldtman
BACKGROUND: Impaired quality of life (QOL) is associated with congenital heart disease (CHD) and country of residence; however, few studies have compared QOL in patients with differing complexities of CHD across regional populations. The current study examined regional variation in QOL outcomes in a large multinational sample of patients with a Fontan relative to patients with atrial septal defects (ASDs) and ventricular septal defects (VSDs). METHODS: From the Assessment of Patterns of Patient-Reported Outcomes in Adults with Congenital Heart disease-International Study (APPROACH-IS), 405 patients (163 Fontan and 242 ASD/VSD) across Asia, Europe, and North America provided consent for access to their medical records and completed a survey evaluating QOL (0 to 100 linear analog scale)...
November 2017: American Heart Journal
https://www.readbyqxmd.com/read/29126655/incidence-of-infective-endocarditis-and-its-thromboembolic-complications-in-a-pediatric-population-over-30years
#4
K Thom, A Hanslik, J L Russell, S Williams, P Sivaprakasam, U Allen, C Male, L R Brandão
BACKGROUND: Pediatric infective endocarditis (IE) has been associated with high morbidity and mortality, mostly related to thromboembolic complications (TEC). The objective of our study was to describe the experience in children with IE and to review the changes over a thirty-year period, regarding origin of IE, incidence of vegetations, TEC and their respective morbidity and mortality rates. METHODS: A retrospective chart review of children aged 0-18years with IE defined by the Duke Criteria and admitted to The Hospital for Sick Children, was conducted...
November 7, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/29119274/quantification-of-pulmonary-regurgitation-and-prediction-of-pulmonary-valve-replacement-by-echocardiography-in-patients-with-congenital-heart-defects-in-comparison-to-cardiac-magnetic-resonance-imaging
#5
Claudia Dellas, Laura Kammerer, Verena Gravenhorst, Joachim Lotz, Thomas Paul, Michael Steinmetz
Pulmonary regurgitation (PR) is common in patients with congenital heart defects (CHD) and contributes to morbidity and mortality in the long-term. We investigated in this retrospective analysis whether readily accessible echocardiographic parameters are useful for quantification of PR and for predicting pulmonary valve replacement (PVR) in comparison to the gold-standard phase contrast (PC) flow measurements from cardiovascular magnetic resonance (CMR). Continuous wave (CW) Doppler and colour flow images in echocardiograms from 53 patients with CHD were analysed...
November 8, 2017: International Journal of Cardiovascular Imaging
https://www.readbyqxmd.com/read/29118365/impaired-development-of-the-cerebral-cortex-in-infants-with-congenital-heart-disease-is-correlated-to-reduced-cerebral-oxygen-delivery
#6
Christopher J Kelly, Antonios Makropoulos, Lucilio Cordero-Grande, Jana Hutter, Anthony Price, Emer Hughes, Maria Murgasova, Rui Pedro A G Teixeira, Johannes K Steinweg, Sagar Kulkarni, Loay Rahman, Hui Zhang, Daniel C Alexander, Kuberan Pushparajah, Daniel Rueckert, Joseph V Hajnal, John Simpson, A David Edwards, Mary A Rutherford, Serena J Counsell
Neurodevelopmental impairment is the most common comorbidity associated with complex congenital heart disease (CHD), while the underlying biological mechanism remains unclear. We hypothesised that impaired cerebral oxygen delivery in infants with CHD is a cause of impaired cortical development, and predicted that cardiac lesions most associated with reduced cerebral oxygen delivery would demonstrate the greatest impairment of cortical development. We compared 30 newborns with complex CHD prior to surgery and 30 age-matched healthy controls using brain MRI...
November 8, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29112643/assessment-of-fetal-congenital-heart-diseases-by-4-dimensional-ultrasound-using-spatiotemporal-image-correlation-pictorial-review
#7
Edward Araujo Júnior, Gabriele Tonni, Nathalie Jeanne Bravo-Valenzuela, Fabricio Da Silva Costa, Simon Meagher
The aim of this pictorial review is to describe the technical advances achieved through the application of 4-dimensional (4D) ultrasound using spatiotemporal image correlation (STIC) over conventional 2-dimensional ultrasound in the prenatal detection of congenital heart disease (CHD). Spatiotemporal image correlation is a volume imaging technique that simplifies fetal heart studies while providing more diagnostic information than is typically available from traditional 2-dimensional studies. Four-dimensional software allows the study of cardiac anatomy and function during a single cardiac cycle and has greatly contributed to diagnostic enhancement of CHD...
November 6, 2017: Ultrasound Quarterly
https://www.readbyqxmd.com/read/29111286/role-of-computed-tomography-angiography-in-the-differentiation-of-feline-truncus-arteriosus-communis-from-pulmonary-atresia-with-ventricular-septal-defect
#8
Lauren E Markovic, Brian A Scansen, Brianna M Potter
Two domestic shorthair cats, a 6-month-old castrated male and a 7-month-old intact female, were diagnosed with complex congenital heart disease. Transthoracic echocardiography in both cats revealed a dilated arterial trunk overriding the interventricular septum with a large ventricular septal defect. The pulmonary trunk and branch pulmonary arteries were not visible using standard echocardiographic views in either cat. The differential diagnosis for both cats included truncus arteriosus communis vs. pulmonary atresia with ventricular septal defect...
October 27, 2017: Journal of Veterinary Cardiology: the Official Journal of the European Society of Veterinary Cardiology
https://www.readbyqxmd.com/read/29111206/functional-mutant-gata4-identification-and-potential-application-in-preimplantation-diagnosis-of-congenital-heart-diseases
#9
REVIEW
You Yu, Wei Lei, Junjie Yang, Yan-Chang Wei, Zhen-Ling Zhao, Zhen-Ao Zhao, Shijun Hu
Congenital heart diseases (CHDs) affect nearly 1% of all neonates and show an increasing tendency. The complex inheritance patterns and multifactorial etiologies make these defects difficult to be identified before complete manifestation. Genetic screening has identified hundreds of specific mutant sites for CHDs based on cardiac transcriptional factors. GATA4 is a master regulator required for ventral morphogenesis and heart tube formation. Its mutation is most widely studied in CHDs. In the past decades, over 100 GATA4 mutant sites have been reported, but only a few functional sites have been identified...
October 27, 2017: Gene
https://www.readbyqxmd.com/read/29106500/familial-co-occurrence-of-congenital-heart-defects-follows-distinct-patterns
#10
Sabrina G Ellesøe, Christopher T Workman, Patrice Bouvagnet, Christopher A Loffredo, Kim L McBride, Robert B Hinton, Klaartje van Engelen, Emma C Gertsen, Barbara J M Mulder, Alex V Postma, Robert H Anderson, Vibeke E Hjortdal, Søren Brunak, Lars A Larsen
Aims: Congenital heart defects (CHD) affect almost 1% of all live born children and the number of adults with CHD is increasing. In families where CHD has occurred previously, estimates of recurrence risk, and the type of recurring malformation are important for counselling and clinical decision-making, but the recurrence patterns in families are poorly understood. We aimed to determine recurrence patterns, by investigating the co-occurrences of CHD in 1163 families with known malformations, comprising 3080 individuals with clinically confirmed diagnosis...
July 2, 2017: European Heart Journal
https://www.readbyqxmd.com/read/29104469/mef2c-loss-of-function-mutation-contributes-to-congenital-heart-defects
#11
Xiao-Hui Qiao, Fei Wang, Xian-Ling Zhang, Ri-Tai Huang, Song Xue, Juan Wang, Xing-Biao Qiu, Xing-Yuan Liu, Yi-Qing Yang
Congenital heart disease (CHD) is the most common type of developmental abnormality in humans, and is a leading cause for substantially increased morbidity and mortality in affected individuals. Increasing studies demonstrates a pivotal role of genetic defects in the pathogenesis of CHD, and presently mutations in more than 60 genes have been associated with CHD. Nevertheless, CHD is of pronounced genetic heterogeneity, and the genetic basis underpinning CHD in a large proportion of patients remains unclear...
2017: International Journal of Medical Sciences
https://www.readbyqxmd.com/read/29103604/incidence-predictors-and-mortality-of-infective-endocarditis-in-adults-with-congenital-heart-disease-without-prosthetic-valves
#12
Darren Mylotte, Dinela Rushani, Judith Therrien, Liming Guo, Aihua Liu, Kenneth Guo, Giuseppe Martucci, Andrew S Mackie, Jay S Kaufman, Ariane Marelli
Congenital heart disease (CHD) increases the risk of infective endocarditis (IE), though the lesion-specific risk and mortality are poorly defined. Using the population-based Quebec CHD database, we sought to describe the predictors of IE and to evaluate if IE was associated with mortality among adult CHD (ACHD) patients without prior valve replacement surgery. We extracted data on ACHD patients with IE and assessed the lesion-specific incidence of IE, risk factors for IE acquisition, and all-cause 1-year mortality...
October 14, 2017: American Journal of Cardiology
https://www.readbyqxmd.com/read/29096572/prenatal-cardiac-magnetic-resonance-imaging-of-right-aortic-arch-with-mirror-image-branching-and-retroesophageal-left-ductus-arteriosus
#13
Su-Zhen Dong, Ming Zhu
OBJECTIVE: To evaluate the utility of fetal cardiac magnetic resonance imaging (MRI) in diagnosing right aortic arch with mirror image branching and retroesophageal left ductus arteriosus (RLDA). METHODS: This retrospective study included six infants diagnosed with right aortic arch with mirror image branching and RLDA postnatally by cardiac computed tomography (CT) that had fetal echocardiography (echo) and MRI initially performed. The six fetal MR cases were examined using 1...
November 2, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29094487/effectiveness-of-fetal-cardiac-screening-for-congenital-heart-disease-using-a-combination-of-the-four-chamber-view-and-three-vessel-view-during-the-second-trimester-scan
#14
Mina Itsukaichi, Takehiro Serikawa, Kosuke Yoshihara, Hiroshi Suzuki, Kazufumi Haino, Masayuki Yamaguchi, Takayuki Enomoto, Koichi Takakuwa
AIM: We aimed to assess the accuracy and effectiveness of fetal cardiac screening for congenital heart disease (CHD) during the second trimester by general obstetricians in a non-selected population. METHODS: In this multicenter, prospective cohort study of fetal cardiac screening, four-chamber and three-vessel views were recorded by obstetricians at 18-21 gestational weeks (GW). A total of 3005 fetuses that were scheduled for delivery at our institution were included...
November 2, 2017: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/29094357/systematic-review-and-meta-analysis-of-the-performance-of-second-trimester-screening-for-prenatal-detection-of-congenital-heart-defects
#15
Christine L van Velzen, Johannes C F Ket, Peter M van de Ven, Nico A Blom, Monique C Haak
BACKGROUND: The prenatal detection rate of congenital heart defects (CHDs) is increasing, but reported rates vary. OBJECTIVE: To determine the performance of the second-trimester anomaly scan to detect CHD. SEARCH STRATEGY: PubMed and Embase were searched for relevant studies in any language from inception to February 3, 2017. The search terms included "prenatal diagnosis" or "pregnancy," "cardiovascular diseases" or "cardiac defects," "congenital," and "specificity," or "sensitivity," or "cohort study...
November 2, 2017: International Journal of Gynaecology and Obstetrics
https://www.readbyqxmd.com/read/29089047/whole-exome-sequencing-in-342-congenital-cardiac-left-sided-lesion-cases-reveals-extensive-genetic-heterogeneity-and-complex-inheritance-patterns
#16
Alexander H Li, Neil A Hanchard, Dieter Furthner, Susan Fernbach, Mahshid Azamian, Annarita Nicosia, Jill Rosenfeld, Donna Muzny, Lisa C A D'Alessandro, Shaine Morris, Shalini Jhangiani, Dhaval R Parekh, Wayne J Franklin, Mark Lewin, Jeffrey A Towbin, Daniel J Penny, Charles D Fraser, James F Martin, Christine Eng, James R Lupski, Richard A Gibbs, Eric Boerwinkle, John W Belmont
BACKGROUND: Left-sided lesions (LSLs) account for an important fraction of severe congenital cardiovascular malformations (CVMs). The genetic contributions to LSLs are complex, and the mutations that cause these malformations span several diverse biological signaling pathways: TGFB, NOTCH, SHH, and more. Here, we use whole exome sequence data generated in 342 LSL cases to identify likely damaging variants in putative candidate CVM genes. METHODS: Using a series of bioinformatics filters, we focused on genes harboring population-rare, putative loss-of-function (LOF), and predicted damaging variants in 1760 CVM candidate genes constructed a priori from the literature and model organism databases...
October 31, 2017: Genome Medicine
https://www.readbyqxmd.com/read/29079892/the-genetic-counselor-in-the-pediatric-arrhythmia-clinic-review-and-assessment-of-services
#17
Benjamin M Helm, Samantha L Freeze, Katherine G Spoonamore, Stephanie M Ware, Mark D Ayers, Adam C Kean
There are minimal data on the impact of genetic counselors in subspecialty clinics, including the pediatric arrhythmia clinic. This study aimed to describe the clinical encounters of a genetic counselor integrated into a pediatric arrhythmia clinic. In the 20 months between July 2015 and February 2017, a total of 1914 scheduled patients were screened for indications relevant for assessment by a genetic counselor. Of these, the genetic counselor completed 276 patient encounters, seeing 14.4% of all patients in clinic...
October 27, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29074966/mutation-specific-mechanisms-of-hyperactivation-of-noonan-syndrome-sos-molecules-detected-with-single-molecule-imaging-in-living-cells
#18
Yuki Nakamura, Nobuhisa Umeki, Mitsuhiro Abe, Yasushi Sako
Noonan syndrome (NS) is a congenital hereditary disorder associated with developmental and cardiac defects. Some patients with NS carry mutations in SOS, a guanine nucleotide exchange factor (GEF) for the small GTPase RAS. NS mutations have been identified not only in the GEF domain, but also in various domains of SOS, suggesting that multiple mechanisms disrupt SOS function. In this study, we examined three NS mutations in different domains of SOS to clarify the abnormality in its translocation to the plasma membrane, where SOS activates RAS...
October 26, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29073929/health-related-quality-of-life-of-mothers-of-children-with-congenital-heart-disease-in-a-sub-saharan-setting-cross-sectional-comparative-study
#19
Lidia Sileshi, Endale Tefera
BACKGROUND: While the Health Related Quality of Life of the children with congenital heart defects is primarily affected, caring for a child with birth defect has an impact on the family's quality of life as well. Understanding the level of quality of life of the parents, which is likely to vary in different cultural settings, beliefs and parental educational status may help to implement educational programs and other interventional measures that may improve the HRQOL of parents of such children...
October 26, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/29073101/utx-guided-neural-crest-function-underlies-craniofacial-features-of-kabuki-syndrome
#20
Karl B Shpargel, Joshua Starmer, Chaochen Wang, Kai Ge, Terry Magnuson
Kabuki syndrome, a congenital craniofacial disorder, manifests from mutations in an X-linked histone H3 lysine 27 demethylase (UTX/KDM6A) or a H3 lysine 4 methylase (KMT2D). However, the cellular and molecular etiology of histone-modifying enzymes in craniofacial disorders is unknown. We now establish Kabuki syndrome as a neurocristopathy, whereby the majority of clinical features are modeled in mice carrying neural crest (NC) deletion of UTX, including craniofacial dysmorphism, cardiac defects, and postnatal growth retardation...
October 24, 2017: Proceedings of the National Academy of Sciences of the United States of America
keyword
keyword
112021
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"