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https://www.readbyqxmd.com/read/29138878/higher-cost-of-hospitalizations-for-non-cardiac-diagnoses-in-adults-with-congenital-heart-disease
#1
Michael D Seckeler, Ian D Thomas, Jennifer Andrews, Omar Meziab, Tabitha Moe, Elissa Heller, Scott E Klewer
Adults with congenital heart disease (CHD) are a rapidly increasing population and their impact on healthcare resources is not fully understood. The purpose of this study was to describe the costs of hospitalizations for non-cardiac disease for adults with CHD. We conducted a retrospective review of hospital discharge data from the University HealthSystem Consortium Clinical Data Base/Resource Manager from January 2011 through December 2013. Patients were ≥ 18 years old at admission with any ICD-9 code for moderate or high severity CHD; cardiac surgical admissions were excluded...
November 15, 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/29128868/association-of-lpa-variants-with-aortic-stenosis-a-large-scale-study-using-diagnostic-and-procedural-codes-from-electronic-health-records
#2
Hao Yu Chen, Line Dufresne, Hannah Burr, Athithan Ambikkumar, Niko Yasui, Kevin Luk, Dilrini K Ranatunga, Rachel A Whitmer, Mark Lathrop, James C Engert, George Thanassoulis
Importance: Elevated lipoprotein(a) levels are a risk factor for aortic stenosis (AS). However, a large-scale replication of associations between LPA variants and AS, their interactions with risk factors, and the effect of multiple risk alleles is not well established. Objective: To replicate the association between LPA variants with AS and identify subgroups who are at higher risk of developing AS. Design, Setting, and Participants: This case-control study of AS included 44 703 individuals (3469 cases) 55 years or older who were enrolled in the Genetic Epidemiology Research on Aging cohort and who were members of the Kaiser Permanente Northern California health care delivery system...
November 12, 2017: JAMA Cardiology
https://www.readbyqxmd.com/read/29111206/functional-mutant-gata4-identification-and-potential-application-in-preimplantation-diagnosis-of-congenital-heart-diseases
#3
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/29104469/mef2c-loss-of-function-mutation-contributes-to-congenital-heart-defects
#4
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/29040751/epidenovo-a-platform-for-linking-regulatory-de-novo-mutations-to-developmental-epigenetics-and-diseases
#5
Fengbiao Mao, Qi Liu, Xiaolu Zhao, Haonan Yang, Sen Guo, Luoyuan Xiao, Xianfeng Li, Huajing Teng, Zhongsheng Sun, Yali Dou
De novo mutations (DNMs) have been shown to be a major cause of severe early-onset genetic disorders such as autism spectrum disorder and intellectual disability. Over one million DNMs have been identified in developmental disorders by next generation sequencing, but linking these DNMs to the genes that they impact remains a challenge, as the majority of them are embedded in non-coding regions. As most developmental diseases occur in the early stages of development or during childhood, it is crucial to clarify the details of epigenetic regulation in early development in order to interpret the mechanisms underlying developmental disorders...
October 10, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28885171/gestational-age-and-outcomes-in-critical-congenital-heart-disease
#6
Martina A Steurer, Rebecca J Baer, Roberta L Keller, Scott Oltman, Christina D Chambers, Mary E Norton, Shabnam Peyvandi, Larry Rand, Satish Rajagopal, Kelli K Ryckman, Anita J Moon-Grady, Laura L Jelliffe-Pawlowski
BACKGROUND AND OBJECTIVES: It is unknown how gestational age (GA) impacts neonatal morbidities in infants with critical congenital heart disease (CCHD). We aim to quantify GA-specific mortality and neonatal morbidity in infants with CCHD. METHODS: Cohort study using a database linking birth certificate, infant hospital discharge, readmission, and death records, including infants 22 to 42 weeks' GA without chromosomal anomalies (2005-2012, 2 988 925 live births)...
October 2017: Pediatrics
https://www.readbyqxmd.com/read/28780716/epigenetics-a-potential-key-mechanism-involved-in-the-pathogenesis-of-cardiorenal-syndromes
#7
REVIEW
Grazia Maria Virzì, Anna Clementi, Alessandra Brocca, Massimo de Cal, Claudio Ronco
Epigenetics is defined as the heritable changes in gene expression patterns which are not directly encoded by modifications in the nucleotide DNA sequence of the genome, including higher order chromatin organization, DNA methylation, cytosine modifications, covalent histone tail modifications, and short non-coding RNA molecules. Recently, much attention has been paid to the role and the function of epigenetics and epimutations in the cellular and subcellular pathways and in the regulation of genes in the setting of both kidney and cardiovascular disease...
August 5, 2017: Journal of Nephrology
https://www.readbyqxmd.com/read/28749226/care-of-preschoolers-with-congenital-heart-disease-by-kindergarten-and-nursery-teachers-in-japan
#8
Hisae Tabata
The purpose of this study was to elucidate the involvement of kindergarten and nursery school teachers with young children with congenital heart disease. The study was designed as a qualitative descriptive study. Interviews of kindergarten and nursery school teachers with experience in the care and education of young children with congenital heart disease were conducted, during which they described their experience. Verbatim transcripts of the interviews were prepared, and the content was categorized. The study participants were 11 kindergarten and nursery school teachers...
September 2017: Compr Child Adolesc Nurs
https://www.readbyqxmd.com/read/28736836/identification-of-adults-with-congenital-heart-disease-of-moderate-or-great-complexity-from-administrative-data
#9
Jill M Steiner, James N Kirkpatrick, Susan R Heckbert, Asma Habib, James Sibley, William Lober, J Randall Curtis
INTRODUCTION: There is relatively sparse literature on the use of administrative datasets for research in patients with adult congenital heart disease (ACHD). The goal of this analysis is to examine the accuracy of administrative data for identifying patients with ACHD who died. METHODS: A list of the International Classification of Diseases codes representing ACHD of moderate- or great-complexity was created. A search for these codes in the electronic health record of adults who received care in 2010-2016 was performed, and used state death records to identify patients who died during this period...
July 24, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28677747/mesp1-loss%C3%A2-of%C3%A2-function-mutation-contributes-to-double-outlet-right-ventricle
#10
Min Zhang, Fu-Xing Li, Xing-Yuan Liu, Ri-Tai Huang, Song Xue, Xiao-Xiao Yang, Yan-Jie Li, Hua Liu, Hong-Yu Shi, Xin Pan, Xing-Biao Qiu, Yi-Qing Yang
Congenital heart disease (CHD) is the most common form of birth defect in humans, and remains a leading non‑infectious cause of infant mortality worldwide. An increasing number of studies have demonstrated that genetic defects serve a pivotal role in the pathogenesis of CHD, and mutations in >60 genes have been causally associated with CHD. CHD is a heterogeneous disease and the genetic basis of CHD in the majority of patients remains poorly understood. In the present study, the coding exons and flanking introns of the mesoderm posterior 1 (MESP1) gene, which encodes a basic helix‑loop‑helix transcription factor required for normal cardiovascular development, were sequenced in 178 unrelated patients with CHD...
September 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28669107/outcomes-and-costs-of-cardiac-surgery-in-adults-with-congenital-heart-disease
#11
Viviane G Nasr, David Faraoni, Anne Marie Valente, James A DiNardo
Advances in pediatric cardiac surgical and medical care have led to increased survival of patients with congenital heart disease (CHD). Consequently, many CHD patients survive long enough to require cardiac surgery as adults. Using the 2013 Nationwide Inpatient Sample (NIS) database, we compared costs and outcomes for adult patients undergoing surgery for treatment of CHD to a reference population of adults undergoing CABG. Patients were identified using International Classification of Diseases, Ninth Revision, Clinical Modification (ICD-9 CM) procedure codes...
July 1, 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/28648597/genotype-phenotype-correlation-for-congenital-heart-disease-in-down-syndrome-through-analysis-of-partial-trisomy-21-cases
#12
Maria Chiara Pelleri, Elena Gennari, Chiara Locatelli, Allison Piovesan, Maria Caracausi, Francesca Antonaros, Alessandro Rocca, Costanza Maria Donati, Letizia Conti, Pierluigi Strippoli, Marco Seri, Lorenza Vitale, Guido Cocchi
Among Down syndrome (DS) children, 40-50% have congenital heart disease (CHD). Although trisomy 21 is not sufficient to cause CHD, three copies of at least part of chromosome 21 (Hsa21) increases the risk for CHD. In order to establish a genotype-phenotype correlation for CHD in DS, we built an integrated Hsa21 map of all described partial trisomy 21 (PT21) cases with sufficient indications regarding presence or absence of CHD (n=107), focusing on DS PT21 cases. We suggest a DS CHD candidate region on 21q22...
October 2017: Genomics
https://www.readbyqxmd.com/read/28604574/use-of-extracorporeal-membrane-oxygenation-and-mortality-in-pediatric-cardiac-surgery-patients-with-genetic-conditions-a-multicenter-analysis
#13
Jamie M Furlong-Dillard, Venugopal Amula, David K Bailly, Steven B Bleyl, Jacob Wilkes, Susan L Bratton
OBJECTIVE: Congenital heart disease is commonly a manifestation of genetic conditions. Surgery and/or extracorporeal membrane oxygenation were withheld in the past from some patients with genetic conditions. We hypothesized that surgical care of children with genetic conditions has increased over the last decade, but their cardiac extracorporeal membrane oxygenation use remains lower and mortality greater. DESIGN: Retrospective cohort study. SETTING: Patients admitted to the Pediatric Health Information System database 18 years old or younger with cardiac surgery during 2003-2014...
September 2017: Pediatric Critical Care Medicine
https://www.readbyqxmd.com/read/28602537/atrial-septal-defect-increases-the-risk-for-stroke-after-total-hip-arthroplasty
#14
Dean C Perfetti, Morad Chughtai, Matthew R Boylan, Qais Naziri, Aditya V Maheshwari, Michael A Mont
BACKGROUND: Atrial septal defect (ASD) and patent foramen ovale (PFO) are 2 of the most common congenital heart diseases in adults and pose important risks of perioperative acute ischemic stroke (AIS) from paradoxical emboli. We evaluated the following: (1) the prevalence of ASD/PFO in the total hip arthroplasty (THA) population; (2) the rate of perioperative AIS during index admissions; and (3) the risk for perioperative AIS after THA for patients with ASD/PFO vs matched controls. METHODS: We identified 393,652 patients in the Nationwide Inpatient Sample who underwent THA between January 1, 2007, and December 31, 2013...
May 11, 2017: Journal of Arthroplasty
https://www.readbyqxmd.com/read/28583401/mir-873-suppresses-h9c2-cardiomyocyte-proliferation-by-targeting-gli1
#15
Jing-Shu Zhang, Yue Zhao, Yuan Lv, Pei-Yan Liu, Jun-Xia Ruan, Yue-Ling Sun, Tian-Xing Gong, Nan Wan, Guang-Rong Qiu
MicroRNAs (miRNAs) are a class of endogenous, non-coding small RNAs that regulate the expression of target genes. Previous studies have suggested that miRNAs are key regulators in cardiovascular systems. This study investigated the role of miR-873 in H9C2 cardiomyocytes by targeting glioma-associated oncogene 1 (GLI1). miR-873 was significantly up-regulated in serum samples from congenital heart disease (CHD) patients compared with those from normal individuals. Furthermore, miR-873 over-expression suppressed H9C2 proliferation and induced cell cycle arrest...
August 30, 2017: Gene
https://www.readbyqxmd.com/read/28578168/neonatal-outcomes-in-fetuses-with-cardiac-anomalies-and-the-impact-of-delivery-route
#16
Laura I Parikh, Katherine L Grantz, Sara N Iqbal, Chun-Chih Huang, Helain J Landy, Melissa H Fries, Uma M Reddy
BACKGROUND: Congenital fetal cardiac anomalies compromise the most common group of fetal structural anomalies. Several previous reports analyzed all types of fetal cardiac anomalies together without individualized neonatal morbidity outcomes based on cardiac defect. Mode of delivery in cases of fetal cardiac anomalies varies greatly as optimal mode of delivery in these complex cases is unknown. OBJECTIVE: We sought to determine rates of neonatal outcomes for fetal cardiac anomalies and examine the role of attempted route of delivery on neonatal morbidity...
October 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28553164/tbx20-loss-of-function-mutation-responsible-for-familial-tetralogy-of-fallot-or-sporadic-persistent-truncus-arteriosus
#17
Ri-Tai Huang, Juan Wang, Song Xue, Xing-Biao Qiu, Hong-Yu Shi, Ruo-Gu Li, Xin-Kai Qu, Xiao-Xiao Yang, Hua Liu, Ning Li, Yan-Jie Li, Ying-Jia Xu, Yi-Qing Yang
Congenital heart disease (CHD), the most common form of developmental abnormality in humans, remains a leading cause of morbidity and mortality in neonates. Genetic defects have been recognized as the predominant causes of CHD. Nevertheless, CHD is of substantial genetic heterogeneity and the genetic defects underlying CHD in most cases remain unclear. In the current study, the coding regions and splicing junction sites of the TBX20 gene, which encodes a T-box transcription factor key to cardiovascular morphogenesis, were sequenced in 175 unrelated patients with CHD, and a novel heterozygous TBX20 mutation, p...
2017: International Journal of Medical Sciences
https://www.readbyqxmd.com/read/28533037/epidemiology-of-live-born-infants-with-nonimmune-hydrops-fetalis-insights-from-a-population-based-dataset
#18
Martina A Steurer, Shabnam Peyvandi, Rebecca J Baer, Tippi MacKenzie, Ben C Li, Mary E Norton, Laura L Jelliffe-Pawlowski, Anita J Moon-Grady
OBJECTIVE: To evaluate the incidence, etiology, and 1-year mortality of nonimmune hydrops fetalis (NIHF) and to identify risk factors for mortality in a contemporary population-based dataset. STUDY DESIGN: The California Office of Statewide Health Planning and Development maintains a database linking maternal and infant hospital discharge, readmissions, and birth and death certificate date from 1 year before to 1 year after birth. We searched the database (2005-2012) for infants with NIHF (identified by the International Classification of Diseases, 9th Revision, Clinical Modification code)...
August 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28457736/cost-of-congenital-heart-disease-hospitalizations-in-canada-a-population-based-study
#19
Andrew S Mackie, Dat T Tran, Ariane J Marelli, Padma Kaul
BACKGROUND: The prevalence of congenital heart disease (CHD) is rising, and late complications are common. The impact of these factors on health-care costs is not well understood. We sought to describe inpatient CHD costs in Canada. METHODS: We conducted an observational retrospective cohort study. The Canadian Institute for Health Information (CIHI) Discharge Abstract Database was used for all Canadian provinces, except Quebec, between April 2004 and March 2014...
June 2017: Canadian Journal of Cardiology
https://www.readbyqxmd.com/read/28403428/maternal-and-fetal-outcomes-of-admission-for-delivery-in-women-with-congenital-heart-disease
#20
Robert M Hayward, Elyse Foster, Zian H Tseng
Background: Women with congenital heart disease (CHD) may be at increased risk for adverse events during pregnancy and delivery. Objective: To compare delivery outcomes between women with and without CHD. Design, Setting, and Participants: This retrospective study of inpatient delivery admissions in the Healthcare Cost and Utilization Project's California State Inpatient Database compared maternal and fetal outcomes between women with and without CHD by using multivariate logistic regression...
June 1, 2017: JAMA Cardiology
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