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https://www.readbyqxmd.com/read/28230770/vegfa-impacts-early-myocardium-development-in-zebrafish
#1
Diqi Zhu, Yabo Fang, Kun Gao, Jie Shen, Tao P Zhong, Fen Li
Vascular endothelial growth factor A (Vegfa) signaling regulates cardiovascular development. However, the cellular mechanisms of Vegfa signaling in early cardiogenesis remain poorly understood. The present study aimed to understand the differential functions and mechanisms of Vegfa signaling in cardiac development. A loss-of-function approach was utilized to study the effect of Vegfa signaling in cardiogenesis. Both morphants and mutants for vegfaa display defects in cardiac looping and chamber formation, especially the ventricle...
February 21, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28228450/academic-outcomes-in-children-with-congenital-heart-defects-a-population-based-cohort-study
#2
Matthew E Oster, Stephanie Watkins, Kevin D Hill, Jessica H Knight, Robert E Meyer
BACKGROUND: Most studies evaluating neurocognitive outcomes in children with congenital heart defects (CHD) have focused on high-risk patients or used specialized, resource-intensive testing. To determine the association of CHD with academic outcomes and compare outcomes according to the severity of CHD, we linked state educational records with a birth defects registry and birth certificates. METHODS AND RESULTS: We performed a retrospective cohort study using data from the North Carolina Birth Defects Monitoring Program, North Carolina Department of Public Instruction, and North Carolina Department of Health and Human Services vital records...
February 2017: Circulation. Cardiovascular Quality and Outcomes
https://www.readbyqxmd.com/read/28228299/maternal-hyperhomocysteinemia-and-congenital-heart-defects-a-prospective-case-control-study-in-indian-population
#3
Reyaz A Malik, Mohd R Lone, Asif Ahmed, Kaisar A Koul, Rahid R Malla
OBJECTIVE: Very few studies have been conducted in this part of world to identify relation between maternal serum homocysteine levels and congenital heart disease in their offsprings. With this perspective in mind, this study was carried out. METHODS: Fifty women were enrolled in this study. Thirty of these had delivered neonates who were diagnosed to have congenital heart diseases. These were treated as cases. Twenty of these women had delivered neonates who did not have any congenital heart diseases and were treated as controls...
January 2017: Indian Heart Journal
https://www.readbyqxmd.com/read/28211989/timothy-syndrome-1-genotype-without-syndactyly-and-major-extracardiac-manifestations
#4
Róbert Sepp, Lidia Hategan, Attila Bácsi, Judit Cseklye, László Környei, János Borbás, Márta Széll, Tamás Forster, István Nagy, Zoltán Hegedűs
Timothy syndrome 1 (TS1) is a rare genetic disorder characterized by multisystem abnormalities including QT prolongation, congenital heart defects, facial dysmorphism, episodic hypoglycemia, and neurological symptoms. A morphological hallmark of TS1 is syndactyly, present in all cases. TS1 is caused by the canonical p.Gly406Arg mutation in the alternatively spliced exon 8A in the CACNA1C gene, encoding for the main cardiac L-type calcium channel. A variant case of TS1 is reported. The proband had intermittent fetal bradycardia with heart rate of 72 bpm...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28211980/constitutional-bone-impairment-in-noonan-syndrome
#5
Giuseppina Baldassarre, Alessandro Mussa, Diana Carli, Cristina Molinatto, Giovanni Battista Ferrero
Noonan syndrome (NS) is an autosomal dominant trait characterized by genotypic and phenotypic variability. It belongs to the Ras/MAPK pathway disorders collectively named Rasopathies or neurocardiofaciocutaneous syndromes. Phenotype is characterized by short stature, congenital heart defects, facial dysmorphisms, skeletal and ectodermal anomalies, cryptorchidism, mild to moderate developmental delay/learning disability, and tumor predisposition. Short stature and skeletal dysmorphisms are almost constant and several studies hypothesized a role for the RAS pathway in regulating bone metabolism...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28205867/p-42-the-influence-of-congenital-heart-defects-on-mid-term-outcomes-of-esophageal-atresia-patients
#6
L Valfre, A Conforti, A Baban, B D Iacobelli, F Fusaro, P Bagolan
No abstract text is available yet for this article.
April 1, 2016: Diseases of the Esophagus: Official Journal of the International Society for Diseases of the Esophagus
https://www.readbyqxmd.com/read/28205200/three-dimensional-printing-technology-supports-surgery-planning-in-patients-with-complex-congenital-heart-defects
#7
Radosław Jaworski, Ireneusz Haponiuk, Maciej Chojnicki, Henryk Olszewski, Paweł Lulewicz
No abstract text is available yet for this article.
2017: Kardiologia Polska
https://www.readbyqxmd.com/read/28197939/prenatal-counseling-of-fetal-congenital-heart-disease
#8
REVIEW
Caroline K Lee
The field of fetal cardiology has advanced greatly over the last two decades and congenital heart defects can now be identified in utero with a high level of accuracy. Prenatal counseling of parents given the news of a fetal cardiac defect is an important role of the fetal cardiologist. Prenatal counseling is a complex task that requires skill to perform and interpret fetal echocardiograms, an understanding of fetal and postnatal cardiovascular physiology, knowledge of therapeutic and surgical options, and of long-term outcomes including quality of life...
January 2017: Current Treatment Options in Cardiovascular Medicine
https://www.readbyqxmd.com/read/28196902/hyaluronidase-2-deficiency-causes-increased-mesenchymal-cells-congenital-heart-defects-and-heart-failure
#9
Biswajit Chowdhury, Bo Xiang, Michelle Liu, Richard Hemming, Vernon W Dolinsky, Barbara Triggs-Raine
BACKGROUND: Hyaluronan (HA) is required for endothelial-to-mesenchymal transition and normal heart development in the mouse. Heart abnormalities in hyaluronidase 2 (HYAL2)-deficient (Hyal2(-)(/-) ) mice and humans suggested removal of HA is also important for normal heart development. We have performed longitudinal studies of heart structure and function in Hyal2(-/-) mice to determine when, and how, HYAL2 deficiency leads to these abnormalities. METHODS AND RESULTS: Echocardiography revealed atrial enlargement, atrial tissue masses, and valvular thickening at 4 weeks of age, as well as diastolic dysfunction that progressed with age, in Hyal2(-/-) mice...
January 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28195586/risk-factors-of-different-congenital-heart-defects-in-guangdong-china
#10
(no author information available yet)
No abstract text is available yet for this article.
February 2017: Pediatric Research
https://www.readbyqxmd.com/read/28186583/-combined-g-banded-karyotyping-and-multiplex-ligation-dependent-probe-amplification-for-the-detection-of-chromosomal-abnormalities-in-fetuses-with-congenital-heart-defects
#11
Yang Liu, Jiansheng Xie, Qian Geng, Zhiyong Xu, Weiqin Wu, Fuwei Luo, Suli Li, Qin Wang, Wubin Chen, Hongxi Tan, Hu Zhang
OBJECTIVE: To assess the value of G-banded karyotyping in combination with multiplex ligation-dependent probe amplification (MLPA) as a tool for the detection of chromosomal abnormalities in fetuses with congenital heart defects. METHODS: The combined method was used to analyze 104 fetuses with heart malformations identified by ultrasonography. Abnormal findings were confirmed with chromosomal microarray analysis (CMA). RESULTS: Nineteen (18%) fetuses were found to harbor chromosomal aberrations by G-banded karyotyping and MLPA...
February 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28182589/bicuspid-aortic-valve-aortopathy-mechanistic-and-clinical-insights-from-recent-studies
#12
David G Guzzardi, Subodh Verma, Paul W M Fedak
PURPOSE OF REVIEW: This focused review summarizes key insights from the past 12 months of basic science and clinical research on bicuspid aortic valve (BAV)-associated aortopathy. RECENT FINDINGS: Recent studies in BAV-associated aortopathy support a heterogeneous spectrum of disease with distinct phenotypes. Basic science studies provide further support for the concept of regional differences in the severity of aortopathy within the aorta of BAV patients. Clinical studies compared outcomes of BAV patients after isolated aortic valve replacement and showed that those with primarily valvular insufficiency as compared with stenosis may be at greater risk for important aortic events over time...
March 2017: Current Opinion in Cardiology
https://www.readbyqxmd.com/read/28182287/transthoracic-echocardiography-study-of-congenitally-corrected-transposition-of-the-great-arteries
#13
Amarjit Singh, Gurpreet Singh, Tejveer S Dhaliwal, Manpreet Singh
Congenitally corrected transposition of the great arteries (CCTGA) is a rare congenital heart defect, occurring in only 0.5% of patients exhibiting congenital heart defects. Because it is not seen in a routine transthoracic echocardiography (TTE) examination, CCTGA may be missed. The echocardiography diagnosis of CCTGA is difficult and not well explained in most textbooks. The present report provides key sonographic images that contribute to the diagnosis. In the present case, the patient had no prior history of heart disease...
February 9, 2017: Journal of Clinical Ultrasound: JCU
https://www.readbyqxmd.com/read/28180938/compound-heterozygous-gata5-mutations-in-a-girl-with-hydrops-fetalis-congenital-heart-defects-and-genital-anomalies
#14
Maja Hempel, Teresa Casar Tena, Thilo Diehl, Martina S Burczyk, Tim M Strom, Christian Kubisch, Melanie Philipp, Davor Lessel
GATA5 belongs to the GATA family of transcription factors characterized by highly evolutionarily conserved zinc-finger DNA-binding domains. Mouse models have implicated a role of GATA5 during mammalian embryogenesis, including proper heart development and gender-specific regulation of female genitourinary tract formation. Previous studies have found an association of heterozygous missense alterations in GATA5 with a broad variety of heart diseases; however, the clinical relevance of the identified susceptibility variants has remained unclear...
February 8, 2017: Human Genetics
https://www.readbyqxmd.com/read/28180202/applicability-and-technical-aspects-of-two-dimensional-ultrasonography-for-assessment-of-fetal-heart-function
#15
REVIEW
Nathalie Jeanne Bravo-Valenzuela, Alberto Borges Peixoto, Luciano Marcondes Nardozza, Alex Sandro Souza, Edward Araujo Júnior
In recent years, fetal echocardiography has been used for the screening and diagnosis of anatomical heart defects and for the detailed study of fetal cardiac function. This method is characterized by its easy implementation and good reproducibility, allowing the diagnosis of myocardial dysfunction even in its subclinical phase. The functional assessment of the fetal heart should be routinely performed in fetuses with congenital heart disease and those without anatomical malformation. Several extra-cardiac conditions may alter fetal cardiac function, by increased placental resistance, volume overload or hyperdynamic circulation, compression, or maternal systemic disease with involvement of the fetal myocardium...
January 31, 2017: Medical Ultrasonography
https://www.readbyqxmd.com/read/28169262/presence-of-aggregatibacter-actinomycetemcomitans-in-saliva-and-cardiac-tissue-samples-of-children-with-congenital-heart-disease
#16
Elif Bozdogan, Nursen Topcuoglu, Gurkan Cetin, Ismail Haberal, Guven Kulekci, Oya Aktoren
AIM: The purpose of this study was to analyze the presence of Aggregatibacter actinomycetemcomitans in saliva and cardiac tissue samples of children requiring cardiac surgery in Istanbul, Turkey. SUBJECTS AND METHODS: Twenty-five patients (mean age: 6.24 ± 2.93) undergoing surgery for congenital heart defects (CHDs) and an age/gender-matched control group of 25 healthy children were enrolled in the study. Saliva samples were collected from all children; plaque index (PI) and gingival index (GI) were also determined...
November 2016: Indian Journal of Dental Research: Official Publication of Indian Society for Dental Research
https://www.readbyqxmd.com/read/28168740/decreased-biventricular-longitudinal-strain-shortly-after-congenital-heart-defect-surgery
#17
Jonne M de Boer, Irene M Kuipers, Liselotte M Klitsie, Nico A Blom, Arend D J Ten Harkel
OBJECTIVE: Impaired ventricular performance in patients who underwent surgery for congenital heart defect (CHD) may ultimately result in clinical heart failure. It is therefore important to regularly evaluate the left ventricular (LV) and right ventricular (RV) performance. We evaluated tissue Doppler imaging (TDI) and speckle tracking echocardiography (STE) before and after surgical correction of a CHD. STUDY DESIGN: Patients with CHD undergoing biventricular corrective surgery were included in this retrospective study...
February 6, 2017: Echocardiography
https://www.readbyqxmd.com/read/28161810/mutation-screening-of-gata4-gene-in-ctd-patients-within-chinese-han-population
#18
Yang Liu, Bojian Li, Yuejuan Xu, Kun Sun
Conotruncal heart defect is a complex form of congenital heart disease and usually has a poor prognosis. Although previous studies have identified several missense variants in GATA4 gene that may cause CTD, it remains unclear whether they are involved in CTD pathogenesis because the study population was limited. The aim of the study was to investigate the mutations of GATA4 gene in isolated CTD Chinese Han patients and identify the pathomechanism of the missense mutations. In this report, the coding exons and exon-intron boundaries of the GATA4 gene were sequenced in 600 CTD patients and 300 controls...
February 4, 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/28160419/adams-oliver-syndrome-review-of-the-literature-refining-the-diagnostic-phenotype
#19
Susan Hassed, Shibo Li, John Mulvihill, Christopher Aston, Susan Palmer
The Adams-Oliver syndrome (AOS) is defined as aplasia cutis congenita (ACC) with transverse terminal limb defects (TTLD). Frequencies of associated anomalies are not well characterized. Six causative genes have been identified: ARHGAP31, DOCK6, EOGT, RBPJ, NOTCH1, and DLL4. We review 385 previously described individuals (139 non-familial and 246 familial probands and family members) and add clinical data on 13 previously unreported individuals with AOS. In addition to ACC and TTLD, the most commonly associated anomalies included a wide variety of central nervous system (CNS) anomalies and congenital heart defects each seen in 23%...
February 4, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28159812/right-ventricular-metabolism-during-veno-arterial-extracorporeal-membrane-oxygenation-in-immature-swine-heart-in-vivo
#20
Masaki Kajimoto, Dolena R Ledee, Nancy G Isern, Michael A Portman
Veno-arterial extracorporeal membrane oxygenation (VA-ECMO) provides hemodynamic rescue for patients encountering right or left ventricular (RV or LV) decompensation, particularly after surgery for congenital heart defects. ECMO, supported metabolically by parenteral nutrition, provides reductions in myocardial work and energy demand and therefore enhances functional recovery. The RV must often assume systemic ventricular pressures and function upon weaning from VA-ECMO. However the substrate utilization responses of the RV to VA-ECMO or stimulation are unknown...
February 3, 2017: American Journal of Physiology. Heart and Circulatory Physiology
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