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https://www.readbyqxmd.com/read/28807900/heart-morphogenesis-gene-regulatory-networks-revealed-by-temporal-expression-analysis
#1
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/28807008/phenotypic-and-molecular-characterisation-of-cdk13-related-congenital-heart-defects-dysmorphic-facial-features-and-intellectual-developmental-disorders
#2
Bret L Bostwick, Scott McLean, Jennifer E Posey, Haley E Streff, Karen W Gripp, Alyssa Blesson, Nina Powell-Hamilton, Jessica Tusi, David A Stevenson, Ellyn Farrelly, Louanne Hudgins, Yaping Yang, Fan Xia, Xia Wang, Pengfei Liu, Magdalena Walkiewicz, Marianne McGuire, Dorothy K Grange, Marisa V Andrews, Marybeth Hummel, Suneeta Madan-Khetarpal, Elena Infante, Zeynep Coban-Akdemir, Karol Miszalski-Jamka, John L Jefferies, Jill A Rosenfeld, Lisa Emrick, Kimberly M Nugent, James R Lupski, John W Belmont, Brendan Lee, Seema R Lalani
BACKGROUND: De novo missense variants in CDK13 have been described as the cause of syndromic congenital heart defects in seven individuals ascertained from a large congenital cardiovascular malformations cohort. We aimed to further define the phenotypic and molecular spectrum of this newly described disorder. METHODS: To minimise ascertainment bias, we recruited nine additional individuals with CDK13 pathogenic variants from clinical and research exome laboratory sequencing cohorts...
August 14, 2017: Genome Medicine
https://www.readbyqxmd.com/read/28802092/utility-of-capture-recapture-methodology-to-estimate-prevalence-of-congenital-heart-defects-among-adolescents-in-11-new-york-state-counties-2008-to-2010
#3
Tugba Akkaya-Hocagil, Wan-Hsiang Hsu, Kristin Sommerhalter, Claire McGarry, Alissa Van Zutphen
BACKGROUND: Congenital heart defects (CHDs) are the most common birth defects in the United States, and the population of individuals living with CHDs is growing. Though CHD prevalence in infancy has been well characterized, better prevalence estimates among children and adolescents in the United States are still needed. METHODS: We used capture-recapture methods to estimate CHD prevalence among adolescents residing in 11 New York counties. The three data sources used for analysis included Statewide Planning and Research Cooperative System (SPARCS) hospital inpatient records, SPARCS outpatient records, and medical records provided by seven pediatric congenital cardiac clinics from 2008 to 2010...
August 12, 2017: Birth defects research
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/28791777/mutations-in-the-katnb1-gene-cause-left-right-asymmetry-and-heart-defects
#5
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/28790278/-perioperative-care-for-patients-with-hypoplastic-left-heart-syndrome
#6
Yujiro Ide, Kisaburo Sakamoto
Hypoplastic Left Heart Syndrome (HLHS) is one of the most challenging congenital heart defects which require surgical interventions during neonatal period. In normal risk cohort, its surgical outcome has been improved dramatically since Dr. William Norwood reported the 1st successful case more than 30 years ago. The introduction of routine bilateral pulmonary artery banding with subsequent Norwood operation during early infantile( we call it as "rapid 2 stage Norwood operation") has brought an earlier hemodynamic stabilization after Norwood operation...
July 2017: Kyobu Geka. the Japanese Journal of Thoracic Surgery
https://www.readbyqxmd.com/read/28790014/bmp2-expression-in-the-endocardial-lineage-is-required-for-av-endocardial-cushion-maturation-and-remodeling
#7
Jacob G Saxon, Daniel R Baer, Julie A Barton, Travis Hawkins, Bingruo Wu, Thomas C Trusk, Stephen E Harris, Bin Zhou, Yuji Mishina, Yukiko Sugi
Distal outgrowth, maturation and remodeling of the endocardial cushion mesenchyme in the atrioventricular (AV) canal are the essential morphogenetic events during four-chambered heart formation. Mesenchymalized AV endocardial cushions give rise to the AV valves and the membranous ventricular septum (VS). Failure of these processes results in several human congenital heart defects. Despite this clinical relevance, the mechanisms governing how mesenchymalized AV endocardial cushions mature and remodel into the membranous VS and AV valves have only begun to be elucidated...
August 5, 2017: Developmental Biology
https://www.readbyqxmd.com/read/28783102/the-pulmonary-circulation-in-the-single-ventricle-patient
#8
REVIEW
Amanda Hauck, Nicolas Porta, Steven Lestrud, Stuart Berger
In recent decades, survival of children with complex congenital heart disease has improved considerably. Specifically, children with a variety of congenital heart defects resulting in 'single ventricle' physiology can now undergo palliative surgery that allows survival beyond the neonatal period, and in many cases into adulthood, despite having a single functional ventricular pumping chamber supplying both the pulmonary and systemic circulation. Our growing understanding of the functionally univentricular heart has resulted in freedom from Fontan failure of >50% at 25 years post-Fontan...
August 7, 2017: Children
https://www.readbyqxmd.com/read/28780518/birth-defects-after-use-of-antithyroid-drugs-in-early-pregnancy-a-swedish-nationwide-study
#9
Stine Linding Andersen, Stefan Lönn, Peter Vestergaard, Ove Törring
OBJECTIVE: Antithyroid drugs (ATDs) may have teratogenic effects, but more evidence is needed on the risk and types of birth defects after the use of Methimazole (MMI) and Propylthiouracil (PTU). This study aimed to evaluate the association between the use of ATDs in early pregnancy and birth defects. DESIGN: Swedish nationwide register-based cohort study. METHODS: The study included 684,340 children live-born in Sweden from 2006-2012. Exposure groups defined by maternal ATD use in early pregnancy were: MMI (n=162); PTU (n=218); MMI and PTU (n=66); ATD before or after, but not in pregnancy (n=1,551); and non-exposed (never ATD (n=682,343))...
August 5, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28780508/population-based-study-of-cognitive-outcomes-in-congenital-heart-defects
#10
Johanna Calderon, Marion Willaime, Nathalie Lelong, Damien Bonnet, Lucile Houyel, Morgane Ballon, François Goffinet, Babak Khoshnood
OBJECTIVE: To characterise and compare cognitive outcomes in children with operated (open-heart surgery) and non-operated (catheter-based interventions only or no intervention) congenital heart defects (CHD) and to determine associated risk factors. DESIGN: This prospective population-based study reports outcomes of 3-year-old children with CHD with or without open-heart surgery. MAIN OUTCOME MEASURES: Standardised cognitive scores (mean scores and proportions below normative values) were assessed with the Kaufman Assessment Battery for Children II...
August 5, 2017: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/28777121/raf1-variants-causing-biventricular-hypertrophic-cardiomyopathy-in-two-preterm-infants-further-phenotypic-delineation-and-review-of-literature
#11
Danielle Thompson, Jessica Patrick-Esteve, Jeffrey W Surcouf, Dana Rivera, Bianca Castellanos, Pooja Desai, Christian Lilje, Yves Lacassie, Michael Marble, Regina Zambrano
Noonan syndrome (NS) is an autosomal dominant disorder characterized by distinctive facial features, short neck, short stature, congenital heart defects, pectus deformities, and variable developmental delays. NS is genetically heterogeneous as pathogenic variants in several genes involved in the Ras/mitogen-activated protein kinase pathway have been associated with a NS phenotype. Overall, 50% of patients harbor pathogenic variants in PTPN11, whereas 3-17% of patients have variants in RAF1. We present two premature neonates with progressive biventricular hypertrophy found to have RAF1 variants in the CR2 domain...
August 3, 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28774381/first-in-human-closed-chest-transcatheter-superior-cavopulmonary-anastomosis
#12
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/28768288/reliability-and-validity-of-a-smartphone-paired-pulse-oximeter-for-screening-of-critical-congenital-heart-defects-in-newborns
#13
Maurice J Huizing, Eduardo Villamor-Martínez, Ingrid A Chavagne, Ward Y Vanagt, Marc A E Spaanderman, Eduardo Villamor
BACKGROUND: Barriers to widespread implementation of pulse oximetry screening of critical congenital heart defects (CCHD) in newborns include increasing trends of out-of-hospital births and cost of equipment. In recent years, smartphone-compatible pulse oximeters have appeared on the market, but the validity of such devices in the setting of CCHD screening has not been evaluated. OBJECTIVES: To compare the performance in CCHD screening of a smartphone-paired pulse oximeter (Masimo iSpO2-Rx™) and a hospital-grade pulse oximeter (Masimo Radical-7™)...
August 3, 2017: Neonatology
https://www.readbyqxmd.com/read/28768058/prenatal-influence-of-congenital-heart-defects-on-trajectories-of-cortical-folding-of-the-fetal-brain-using-three-dimensional-ultrasound
#14
Irene V Koning, Anne W van Graafeiland, Irene A L Groenenberg, Sofie C Husen, Attie T J I Go, Jeroen Dudink, Sten P Willemsen, Jerome M J Cornette, Régine P M Steegers-Theunissen
OBJECTIVE: To investigate the prenatal influence of congenital heart defects (CHD) on trajectories of fetal cortical folding using three-dimensional ultrasound (3D-US). METHOD: We included 20 CHD fetuses and 193 controls for studying the fetal brain at 22, 26 and 32 weeks gestational age (GA). The Sylvian, insula and parieto-occipital fissure (POF) depths were measured using 3D-US and reliability was evaluated. Doppler indices of the umbilical artery and middle cerebral artery were measured to calculate the cerebro-placental ratio (CPR)...
August 2, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28765479/early-intracardiac-thrombus-and-pulmonary-embolus-after-trauma
#15
Neel Desai, Julia Heid, Andrew Leitch
Here, we present the case of a patient with the findings of an early intracardiac thrombus and a pulmonary embolus after major trauma. A large clot was identified extending from the inferior vena cava into the right atrium and ventricle in the setting of preserved right ventricular function. Post-traumatic intracardiac thrombus is extremely rare and no comparable cases have previously been described in the absence of a congenital heart defect and obvious myocardial injury. Best practice afterpost-traumatic intracardiac thrombus is not well established but we found that early inferior vena cava filter placement and treatment with therapeutic coagulation resulted in clinical improvement, resolution of the thrombus and no further emboli...
July 31, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28764825/living-with-tricuspid-atresia-case-report-with-review-of-literature
#16
Brittany Watson Frock, Amy J Jnah, Desi M Newberry
Tricuspid atresia (TA) is a rare congenital heart defect in which the right atrioventricular connection, the tricuspid valve, is absent. As a result, there is no direct communication between the right atrium and right ventricle. Surgical treatment, including the Fontan procedure, is indicated yet palliative, leaving patients with various lifelong complications. A comprehensive literature review revealed a paucity of evidence-based education on the identification, evaluation, management, treatment, and life span implications of TA...
July 1, 2017: Neonatal Network: NN
https://www.readbyqxmd.com/read/28761211/holt-oram-syndrome-a-rare-variant
#17
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/28758112/parental-genetic-variants-mthfr-677c-t-and-mtrr-66a-g-associated-differently-with-fetal-congenital-heart-defect
#18
Qian-Nan Guo, Hong-Dan Wang, Li-Zhen Tie, Tao Li, Hai Xiao, Jian-Gang Long, Shi-Xiu Liao
BACKGROUND: Congenital heart defect (CHD) is one of the most common birth defects in the world. The methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) genes are two of the most important candidate genes for fetal CHD. However, the correlations between the two genes and fetal CHD were inconsistent in various reports. Therefore, this study is aimed to evaluate the parental effects of the two genes on fetal CHD via three genetic polymorphisms, MTHFR 677C>T (rs1801133), MTHFR 1298 A>C (rs1801131), and MTRR 66A>G (rs1801394)...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28753627/nuclear-cytoplasmic-transport-defects-in-bbs6-underlie-congenital-heart-disease-through-perturbation-of-a-chromatin-remodeling-protein
#19
Charles Anthony Scott, Autumn N Marsden, Michael R Rebagliati, Qihong Zhang, Xitiz Chamling, Charles C Searby, Lisa M Baye, Val C Sheffield, Diane C Slusarski
Mutations in BBS6 cause two clinically distinct syndromes, Bardet-Biedl syndrome (BBS), a syndrome caused by defects in cilia transport and function, as well as McKusick-Kaufman syndrome, a genetic disorder characterized by congenital heart defects. Congenital heart defects are rare in BBS, and McKusick-Kaufman syndrome patients do not develop retinitis pigmentosa. Therefore, the McKusick-Kaufman syndrome allele may highlight cellular functions of BBS6 distinct from the presently understood functions in the cilia...
July 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28752252/prenatal-diagnosis-of-pulmonary-atresia-with-ventricular-septal-defect
#20
Shui-Hua Yang, Peng-Hui Luo, Xiao-Xian Tian, Xin-Yan Li, Xue-Qin Li, Zuo-Jian Yang, Sheng-Li Li
Pulmonary atresia with ventricular septal defect (PA-VSD) is a rare complex congenital heart defect. Major artery-pulmonary collateral arteries (MAPCAs) are characteristic of PA-VSD. Prenatal diagnosis can be achieved in most cases of PA-VSD with recent advances in echocardiography. However, it is extremely rare that all MAPCAs can be observed on the echocardiograph. Here, we report a case of prenatally diagnosed type C PA-VSD in which all the MAPCAs could be seen on the echocardiograph, with the diagnosis supported by autopsy evidence...
July 27, 2017: Journal of Medical Ultrasonics
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