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Congenital heart defect research

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https://www.readbyqxmd.com/read/29152921/proximity-to-pediatric-cardiac-surgical-care-among-adolescents-with-congenital-heart-defects-in-11-new-york-counties
#1
Kristin M Sommerhalter, Tabassum Z Insaf, Tugba Akkaya-Hocagil, Claire E McGarry, Sherry L Farr, Karrie F Downing, George K Lui, Ali N Zaidi, Alissa R Van Zutphen
BACKGROUND: Many individuals with congenital heart defects (CHDs) discontinue cardiac care in adolescence, putting them at risk of adverse health outcomes. Because geographic barriers may contribute to cessation of care, we sought to characterize geographic access to comprehensive cardiac care among adolescents with CHDs. METHODS: Using a population-based, 11-county surveillance system of CHDs in New York, we characterized proximity to the nearest pediatric cardiac surgical care center among adolescents aged 11 to 19 years with CHDs...
November 1, 2017: Birth defects research
https://www.readbyqxmd.com/read/29152920/using-state-birth-defects-registries-to-evaluate-regional-critical-congenital-heart-disease-newborn-screening
#2
Amy Peterson Case, Stephanie D Miller, Monica R McClain
BACKGROUND: Most states have now passed legislation mandating pulse oximetry for all newborns, or have promulgated regulations or guidelines to encourage use of routine pulse oximetry. State-based birth defects registries may be well positioned to track and evaluate critical congenital heart disease (CCHD) screening coverage and outcomes. This purpose of this study was to determine: (1) the proportion of cases detected by screening, (2) health services use by children with CCHDs during the first year of life, and (3) mortality outcomes...
November 1, 2017: Birth defects research
https://www.readbyqxmd.com/read/29141989/analysis-of-copy-number-variants-on-chromosome-21-in-down-syndrome-associated-congenital-heart-defects
#3
Benjamin L Rambo-Martin, Jennifer G Mulle, David J Cutler, Lora J H Bean, Tracie C Rosser, Kenneth J Dooley, Clifford Cua, George Capone, Cheryl L Maslen, Roger H Reeves, Stephanie L Sherman, Michael E Zwick
One in five people with Down syndrome (DS) are born with an atrioventricular septal defect (AVSD), an incidence 2,000 times higher than in the euploid population. The genetic loci that contribute to this risk are poorly understood. In this study, we tested two hypotheses: 1) individuals with DS carrying chromosome 21 copy number variants (CNVs) that interrupt exons may be protected from AVSD, because these CNVs return AVSD susceptibility loci back to disomy, and 2) individuals with DS carrying chromosome 21 genes spanned by microduplications are at greater risk for AVSD because these microduplications boost the dosage of AVSD susceptibility loci beyond a tolerable threshold...
November 15, 2017: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/29057564/the-effect-of-fetal-hemodynamics-on-fetal-growth-in-single-ventricle-and-transposition-of-the-great-arteries
#4
Tarek Alsaied, Stephanie Tseng, Eileen King, Eunice Hahn, Allison Divanovic, Mounira Habli, James Cnota
INTRODUCTION: As birth weight is a critical predictor of neonatal congenital heart defect (CHD) outcomes, the common problem of poor fetal growth in this population is clinically important but not well understood. The impact of fetal hemodynamics on fetal growth and birth weight in CHD has not been assessed. Combined cardiac output (CCO) has been used to evaluate patients with structurally normal heart but rarely in CHD. Middle cerebral artery and umbilical artery pulsatility indices (PIs) have been used to evaluate the relative distribution of circulation in patients with CHD...
October 23, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29056682/mapping-heart-development-in-flies-src42a-acts-non-autonomously-to-promote-heart-tube-formation-in-drosophila
#5
Jessica Vanderploeg, J Roger Jacobs
Congenital heart defects, clinically identified in both small and large animals, are multifactorial and complex. Although heritable factors are known to have a role in cardiovascular disease, the full genetic aetiology remains unclear. Model organism research has proven valuable in providing a deeper understanding of the essential factors in heart development. For example, mouse knock-out studies reveal a role for the Integrin adhesion receptor in cardiac tissue. Recent research in Drosophila melanogaster (the fruit fly), a powerful experimental model, has demonstrated that the link between the extracellular matrix and the cell, mediated by Integrins, is required for multiple aspects of cardiogenesis...
April 24, 2017: Veterinary Sciences
https://www.readbyqxmd.com/read/29041891/-functional-state-of-vascular-endothelium-in-patients-with-pulmonary-arterial-hypertension-associated-with-congenital-heart-diseases
#6
Y E Emelyanchik, G N Vol'f, A O Vesemiller, B A Salmina
In this article, we present results of the study of blebbing activity of membranes of peripheral blood lymphocytes, concentrations of soluble platelet/endothelial cell adhesion molecule 1, and vascular endothelial growth factor (VEGF) in patients with pulmonary arterial hypertension associated with congenital heart diseases. The research has shown that hypoxia and hemodynamic factors are the initiators of blebbing of membrane of peripheral blood lymphocytes. The activity of blebbing increases in parallel with the severity of the disease...
August 2017: Kardiologiia
https://www.readbyqxmd.com/read/29037749/psychopathological-features-in-noonan-syndrome
#7
Francesca Perrino, Serena Licchelli, Giulia Serra, Giorgia Piccini, Cristina Caciolo, Patrizio Pasqualetti, Flavia Cirillo, Chiara Leoni, Maria Cristina Digilio, Giuseppe Zampino, Marco Tartaglia, Paolo Alfieri, Stefano Vicari
INTRODUCTION: Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, skeletal and haematological/lymphatic defects, distinctive facies, cryptorchidism, and a wide spectrum of congenital heart defects. Recurrent features also include variable cognitive deficits and behavioural problems. Recent research has been focused on the assessment of prevalence, age of onset and characterization of psychiatric features in this disorder. Herein, we evaluated the prevalence of attention deficit and hyperactivity disorder (ADHD), anxiety and depressive symptoms and syndromes in a cohort of individuals with clinical and molecular diagnosis of NS...
September 28, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29016556/the-current-status-and-future-of-cardiac-stem-progenitor-cell-therapy-for-congenital-heart-defects-from-diabetic-pregnancy
#8
REVIEW
Jianxiang Zhong, Shengbing Wang, Wei-Bin Shen, Sunjay Kaushal, Peixin Yang
Pregestational maternal diabetes induces congenital heart defects (CHDs). Cardiac dysfunction after palliative surgical procedures contributes to the high mortality of CHD patients. Autologous or allogeneic stem cell therapies are effective for improving cardiac function in animal models and clinical trials. c-kit(+) cardiac progenitor cells (CPCs), the most recognized CPCs, have the following basic properties of stem cells: self-renewal, multicellular clone formation, and differentiation into multiple cardiac lineages...
October 10, 2017: Pediatric Research
https://www.readbyqxmd.com/read/28976740/3d-printed-pericardium-hydrogels-to-promote-wound-healing-in-vascular-applications
#9
Laura G Bracaglia, Michael Messina, Shira Winston, Che-Ying Kuo, Max Lerman, John P Fisher
Vascular grafts that can support total replacement and maintenance by the body of the injured vessel would improve outcomes of major surgical reconstructions. Building scaffolds using components of the native vessel can encourage biological recognition by native cells as well as mimic mechanical characteristics of the native vessel. Evidence is emerging that incorporating predetermined building-blocks into a tissue engineering scaffold may oversimplify the environment and ignore critical structures and binding sites essential to development at the implant...
October 16, 2017: Biomacromolecules
https://www.readbyqxmd.com/read/28967605/-22q11-2%C3%A2-microdeletion-syndrome-analysis-of-the-care-pathway-before-the-genetic-diagnosis
#10
T Ingrao, L Lambert, M Valduga, G Bosser, E Albuisson, B Leheup
BACKGROUND: 22q11.2 deletion syndrome (22q11.2DS) is a very broad phenotypic spectrum disorder. It can affect many organs or systems. 22q11.2DS is the most common microdeletion syndrome in humans, with a prevalence ranging from one in every 2000 to one in 4000 newborns. It seems to be more prevalent than reported and under-recognized or undiagnosed because of its inherent clinical variability and heterogeneity. In France, 15,000 patients may be affected by this disease, more than half without knowing it...
November 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28948327/abnormal-longitudinal-growth-of-the-aorta-in-children-with-familial-bicuspid-aortic-valve
#11
Holly Nadorlik, Jessica L Bowman, Sara Fitzgerald-Butt, May Ling Mah, Kim L McBride, John P Kovalchin, Vidu Garg
Bicuspid aortic valve (BAV) is the most common type of congenital heart defect (CHD) and is associated with clinically significant cardiovascular complications including valve calcification and ascending aortopathy (AscAo), predominantly occurring in adulthood. While a limited number of genetic etiologies for BAV have been defined, family members of affected individuals display BAV along with other left-sided CHD. This has led to guidelines from the American Heart Association and American College of Cardiology that recommend echocardiographic screening of first-degree relatives of affected adults...
December 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/28899846/quality-of-patient-information-websites-about-congenital-heart-defects-mixed-methods-study-of-perspectives-among-individuals-with-experience-of-a-prenatal-diagnosis
#12
Tommy Carlsson, Ulla Melander Marttala, Barbro Wadensten, Gunnar Bergman, Ove Axelsson, Elisabet Mattsson
BACKGROUND: When a heart defect is prenatally diagnosed in the fetus, expectant parents experience a great need for information about various topics. After the diagnosis, the Web is used for supplemental information, and the scarcity of research calls attention to the need to explore patient information websites from the perspectives of the intended consumers. OBJECTIVE: The overarching aim of this study was to explore the quality of Swedish patient information websites about congenital heart defects, from the perspectives of individuals with experience of a prenatal diagnosis of congenital heart defect in the fetus...
September 12, 2017: Interactive Journal of Medical Research
https://www.readbyqxmd.com/read/28883797/genetic-bases-of-bicuspid-aortic-valve-the-contribution-of-traditional-and-high-throughput-sequencing-approaches-on-research-and-diagnosis
#13
REVIEW
Betti Giusti, Elena Sticchi, Rosina De Cario, Alberto Magi, Stefano Nistri, Guglielmina Pepe
Bicuspid aortic valve (BAV) is a common (0.5-2.0% of general population) congenital heart defect with increased prevalence of aortic dilatation and dissection. BAV has an autosomal dominant inheritance with reduced penetrance and variable expressivity. BAV has been described as an isolated trait or associated with syndromic conditions [e.g., Marfan Marfan syndrome or Loeys-Dietz syndrome (MFS, LDS)]. Identification of a syndromic condition in a BAV patient is clinically relevant to personalize aortic surgery indication...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28875228/myocardial-deformation-assessed-by-longitudinal-strain-chamber-specific-normative-data-for-cmr-feature-tracking-from-the-german-competence-network-for-congenital-heart-defects
#14
Quanliang Shang, Shivani Patel, Michael Steinmetz, Andreas Schuster, David A Danford, Philipp Beerbaum, Samir Sarikouch, Shelby Kutty
PURPOSE: Left ventricular two-dimensional global longitudinal strain (LS) is superior to ejection fraction (EF) as predictor of outcome. We provide reference data for atrial and ventricular global LS during childhood and adolescence by CMR feature tracking (FT). METHODS: We prospectively enrolled 115 healthy subjects (56 male, mean age 12.4 ± 4.1 years) at a single institution. CMR consisted of standard two-dimensional steady-state free-precession acquisitions...
September 5, 2017: European Radiology
https://www.readbyqxmd.com/read/28807008/phenotypic-and-molecular-characterisation-of-cdk13-related-congenital-heart-defects-dysmorphic-facial-features-and-intellectual-developmental-disorders
#15
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
#16
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
#17
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/28742603/strengths-limitations-and-geographical-discrepancies-in-the-eligibility-criteria-for-sport-participation-in-young-patients-with-congenital-heart-disease
#18
Massimiliano Cantinotti, Raffaele Giordano, Nadia Assanta, Bruno Murzi, Manuel Melo, Eliana Franchi, Maura Crocetti, Giorgio Iervasi, Shelby Kutty
OBJECTIVE: Benefits of physical activity has been shown in children with congenital heart disease (CHD). In several forms of CHD, the risk of sudden death remains a major concern both for parents and clinicians, who in turn will have to consider the risk-benefit ratio of sport participation versus restriction. DATA SOURCE: A literature search was performed within the National Library of Medicine using the keywords: Sport, CHD, and Eligibility. The search was further refined by adding the keywords: Children, Adult, and Criteria...
July 21, 2017: Clinical Journal of Sport Medicine: Official Journal of the Canadian Academy of Sport Medicine
https://www.readbyqxmd.com/read/28736836/identification-of-adults-with-congenital-heart-disease-of-moderate-or-great-complexity-from-administrative-data
#19
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/28667405/utilizing-hybrid-techniques-to-maximize-clinical-outcomes-in-congenital-heart-disease
#20
REVIEW
David W Bearl, Gregory A Fleming
PURPOSE OF REVIEW: The past couple of decades have brought tremendous advances to the field of pediatric and adult congenital cardiology. Recent collaborations between interventional cardiologists and cardiac surgeons have sparked novel innovative hybrid procedures that provide potentially safer, faster, and less invasive alternatives to the management of many diseases. This paper will review the most recent advances in hybrid interventions in the field of pediatric and adult congenital cardiology...
August 2017: Current Cardiology Reports
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