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Cardiac congenital defects

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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
#1
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/28793912/re-evaluation-of-hypoplastic-left-heart-syndrome-from-a-developmental-and-morphological-perspective
#2
A Crucean, A Alqahtani, D J Barron, W J Brawn, R V Richardson, J O'Sullivan, R H Anderson, D J Henderson, B Chaudhry
BACKGROUND: Hypoplastic left heart syndrome (HLHS) covers a spectrum of rare congenital anomalies characterised by a non-apex forming left ventricle and stenosis/atresia of the mitral and aortic valves. Despite many studies, the causes of HLHS remain unclear and there are conflicting views regarding the role of flow, valvar or myocardial abnormalities in its pathogenesis, all of which were proposed prior to the description of the second heart field. Our aim was to re-evaluate the patterns of malformation in HLHS in relation to recognised cardiac progenitor populations, with a view to providing aetiologically useful sub-groupings for genomic studies...
August 10, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28792876/nad-deficiency-congenital-malformations-and-niacin-supplementation
#3
Hongjun Shi, Annabelle Enriquez, Melissa Rapadas, Ella M M A Martin, Roni Wang, Julie Moreau, Chai K Lim, Justin O Szot, Eddie Ip, James N Hughes, Kotaro Sugimoto, David T Humphreys, Aideen M McInerney-Leo, Paul J Leo, Ghassan J Maghzal, Jake Halliday, Janine Smith, Alison Colley, Paul R Mark, Felicity Collins, David O Sillence, David S Winlaw, Joshua W K Ho, Gilles J Guillemin, Matthew A Brown, Kazu Kikuchi, Paul Q Thomas, Roland Stocker, Eleni Giannoulatou, Gavin Chapman, Emma L Duncan, Duncan B Sparrow, Sally L Dunwoodie
BACKGROUND: Congenital malformations can be manifested as combinations of phenotypes that co-occur more often than expected by chance. In many such cases, it has proved difficult to identify a genetic cause. We sought the genetic cause of cardiac, vertebral, and renal defects, among others, in unrelated patients. METHODS: We used genomic sequencing to identify potentially pathogenic gene variants in families in which a person had multiple congenital malformations...
August 10, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28790014/bmp2-expression-in-the-endocardial-lineage-is-required-for-av-endocardial-cushion-maturation-and-remodeling
#4
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/28777121/raf1-variants-causing-biventricular-hypertrophic-cardiomyopathy-in-two-preterm-infants-further-phenotypic-delineation-and-review-of-literature
#5
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/28774644/preincision-initiation-of-dexmedetomidine-maximally-reduces-the-risk-of-junctional-ectopic-tachycardia-in-children-undergoing-ventricular-septal-defect-repairs
#6
Nischal K Gautam, Yuliya Turiy, Chandra Srinivasan
OBJECTIVE: To evaluate whether initiation of dexmedetomidine (DEX) infusion before surgical incision and cardiopulmonary bypass (CPB) versus initiation after CPB had an impact on the incidence of junctional ectopic tachycardia (JET). DESIGN: Retrospective cohort study. SETTING: Single tertiary-care cardiac center. PARTICIPANTS: Children undergoing cardiopulmonary bypass for repair of congenital heart disease involving ventricular septal defects between January 2010 and February 2013...
April 10, 2017: Journal of Cardiothoracic and Vascular Anesthesia
https://www.readbyqxmd.com/read/28774381/first-in-human-closed-chest-transcatheter-superior-cavopulmonary-anastomosis
#7
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/28768736/congenital-diaphragmatic-hernias-from-genes-to-mechanisms-to-therapies
#8
REVIEW
Gabrielle Kardon, Kate G Ackerman, David J McCulley, Yufeng Shen, Julia Wynn, Linshan Shang, Eric Bogenschutz, Xin Sun, Wendy K Chung
Congenital diaphragmatic hernias (CDHs) and structural anomalies of the diaphragm are a common class of congenital birth defects that are associated with significant morbidity and mortality due to associated pulmonary hypoplasia, pulmonary hypertension and heart failure. In ∼30% of CDH patients, genomic analyses have identified a range of genetic defects, including chromosomal anomalies, copy number variants and sequence variants. The affected genes identified in CDH patients include transcription factors, such as GATA4, ZFPM2, NR2F2 and WT1, and signaling pathway components, including members of the retinoic acid pathway...
August 1, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28761211/holt-oram-syndrome-a-rare-variant
#9
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/28752325/single-stage-correction-for-taussig-bing-anomaly-associated-with-aortic-arch-obstruction
#10
Kai Luo, Jinghao Zheng, Shunmin Wang, Zhongqun Zhu, Botao Gao, Zhiwei Xu, Jinfen Liu
Taussig-Bing anomaly and aortic arch obstruction are two types of complex congenital cardiac malformations. Almost 50% of patients with Taussig-Bing anomaly have aortic arch obstruction. This report assesses the surgical outcomes of single-stage correction in neonates with both defects. Between November 2006 and November 2015, 39 neonates with Taussig-Bing anomaly and aortic arch obstruction (28 patients with coarctation of the aorta and 11 patients with interrupted aortic arch) underwent a one-stage arterial switch operation and aortic reconstruction...
July 27, 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/28745539/congenital-heart-disease-and-genetic-syndromes-new-insights-into-molecular-mechanisms
#11
Giulio Calcagni, Marta Unolt, Maria Cristina Digilio, Anwar Baban, Paolo Versacci, Marco Tartaglia, Antonio Baldini, Bruno Marino
Advances in genetics allowed a better definition of the role of specific genetic background in the etiology of syndromic congenital heart defects (CHDs). The identification of a number of disease genes responsible for different syndromes have led to the identification of several transcriptional regulators and signaling transducers and modulators that are critical for heart morphogenesis. Understanding the genetic background of syndromic CHDs allowed a better characterization of the genetic basis of non-syndromic CHDs...
August 3, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28743714/incidental-finding-of-a-double-orifice-mitral-valve-in-an-elderly-patient-the-value-of-3d-imaging
#12
Nuno Pires, Wei Li, Roxy Senior, Rajdeep S Khattar
A rare isolated double orifice mitral valve was diagnosed in a 77 year old male patient. This is a rare congenital abnormality, usually discovered as an incidental finding during investigation of other congenital heart defects. This case shows that a detailed assessment of all cardiac structures is necessary, not only in young patients, but also in the elderly population, to minimise the under-diagnosis of such rare anomalies. The use of three dimensional transthoracic echocardiography has an increasingly significant role in establishing the diagnosis and extending the morphological and functional understanding of the anomaly...
July 25, 2017: Echo Research and Practice
https://www.readbyqxmd.com/read/28743482/adult-congenital-heart-disease-in-greece-preliminary-data-from-the-challenge-registry
#13
G Giannakoulas, K Vasiliadis, A Frogoudaki, C Ntellos, A Tzifa, S Brili, A Manginas, M Papaphylactou, D Parcharidou, N Kampourides, A Pitsis, A Chamaidi, M Kolios, G Papadopoulos, A Douras, P Davlouros, D Ntiloudi, H Karvounis, A Kalangos, C Tsioufis, S Rammos
BACKGROUND: The majority of patients with congenital heart disease (CHD), nowadays, survives into adulthood and is faced with long-term complications. We aimed to study the basic demographic and clinical characteristics of adult patients with congenital heart disease (ACHD) in Greece. METHODS: A registry named CHALLENGE (Adult Congenital Heart Disease Registry. A registry from Hellenic Cardiology Society) was initiated in January 2012. Patients with structural CHD older than 16years old were enrolled by 16 specialized centers nationwide...
July 13, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28739807/organisation-of-care-for-pregnancy-in-patients-with-congenital-heart-disease
#14
REVIEW
Jolien W Roos-Hesselink, Werner Budts, Fiona Walker, Julie F A De Backer, Lorna Swan, William Stones, Peter Kranke, Karen Sliwa-Hahnle, Mark R Johnson
Improvements in surgery have resulted in more women with repaired congenital heart disease (CHD) surviving to adulthood. Women with CHD, who wish to embark on pregnancy require prepregnancy counselling. This consultation should cover several issues such as the long-term prognosis of the mother, fertility and miscarriage rates, recurrence risk of CHD in the baby, drug therapy during pregnancy, estimated maternal risk and outcome, expected fetal outcomes and plans for pregnancy. Prenatal genetic testing is available for those patients with an identified genetic defect using pregestational diagnosis or prenatal diagnosis chorionic villus sampling or amniocentesis...
July 24, 2017: Heart: Official Journal of the British Cardiac Society
https://www.readbyqxmd.com/read/28738829/rare-association-of-two-cardiovascular-malformations-successfully-corrected-in-a-single-surgery-a-case-report
#15
Fu-Yang Mei, Zhi-Xuan Bai, Zhi-Bin Hu, Bing Zhou, Yong Cui
BACKGROUND: Partial anomalous pulmonary venous connection (PAPVC) without an atrial septal defect (ASD) associated with coarctation of the aortic arch is a rare congenital cardiac anomaly. This rare combination is only described in a few studies; none report the correction of these two malformations in a single surgery. CASE PRESENTATION: A 5-year-old girl was admitted to our hospital because the echocardiography revealed coarctation of the aortic arch; this diagnosis was confirmed by computed tomography (CT), which also showed her left superior pulmonary vein draining into the vertical vein without ASD (Fig...
July 24, 2017: Journal of Cardiothoracic Surgery
https://www.readbyqxmd.com/read/28736822/congenital-heart-disease-and-cardiac-procedural-outcomes-in-patients-with-trisomy-21-and-turner-syndrome
#16
Raysa Morales-Demori
Congenital heart disease (CHD) is present in approximately 50% of patients with trisomy 21 (T21) and Turner syndrome (TS). According to the American Academy of Pediatrics, every patient with these genetic disorders should have a postnatal echocardiogram. T21 is usually associated with atrioventricular (30%-60%), atrial (16%-21%), or ventricular septal defects (14%-27%). TS is usually associated with left-sided heart disease. However, the spectrum of CHD in these genetic disorders is wider than those mentioned lesions...
July 24, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28730319/management-of-postoperative-junctional-ectopic-tachycardia-in-pediatric-patients-a-survey-of-30-centers-in-germany-austria-and-switzerland
#17
Andreas Entenmann, Miriam Michel, Ulrike Herberg, Nikolaus Haas, Matthias Kumpf, Matthias Gass, Friedemann Egender, Roman Gebauer
Postoperative junctional ectopic tachycardia (JET) is a frequent complication after pediatric cardiac surgery. Current recommendations on how and when to treat JET are inconsistent. We evaluated the management strategies of postoperative JET in German-speaking countries. We sent an online survey to 30 centers of pediatric cardiology that perform surgery for congenital heart defects in Germany (24), Austria (4), and Switzerland (2). The survey asked 18 questions about how and in what treatment sequence postoperative JET was managed...
July 21, 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/28730300/health-related-quality-of-life-in-paediatric-patients-with-congenital-heart-defects-association-with-the-type-of-heart-defect-and-the-surgical-technique
#18
A Heusch, H J Kahl, K O Hensel, G Calaminus
The aim of the study was to investigate the impact of a number of surgical interventions for a various congenital cardiac defects (CHDs) on self-reported HRQoL. METHODS: Patients who had received corrective surgery of several congenital heart defects (surgical VSD closure, Fallot, TGA after atrial or arterial switch or Fontan-type circulation for univentricular AV-connection) were interviewed in the office of their home peadiatric cardiologist. HRQoL in children along 7 dimensions was assessed using a standardised questionnaire (PEDQoL); information on the medical case history of each respondent was also collected...
July 20, 2017: Quality of Life Research
https://www.readbyqxmd.com/read/28726068/cardiac-complications-of-congenital-disorders-of-glycosylation-cdg-a-systematic-review-of-the-literature
#19
REVIEW
D Marques-da-Silva, R Francisco, D Webster, V Dos Reis Ferreira, J Jaeken, T Pulinilkunnil
Congenital disorders of glycosylation (CDG) are inborn errors of metabolism due to protein and lipid hypoglycosylation. This rapidly growing family of genetic diseases comprises 103 CDG types, with a broad phenotypic diversity ranging from mild to severe poly-organ -system dysfunction. This literature review summarizes cardiac involvement, reported in 20% of CDG. CDG with cardiac involvement were divided according to the associated type of glycosylation: N-glycosylation, O-glycosylation, dolichol synthesis, glycosylphosphatidylinositol (GPI)-anchor biosynthesis, COG complex, V-ATPase complex, and other glycosylation pathways...
July 19, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28723882/altered-carnitine-homeostasis-in-children-with-increased-pulmonary-blood-flow-due-to-ventricular-septal-defects
#20
Stephen M Black, Aida Field-Ridley, Shruti Sharma, Sanjiv Kumar, Roberta L Keller, Rebecca Kameny, Emin Maltepe, Sanjeev A Datar, Jeffrey R Fineman
OBJECTIVES: Congenital heart disease with increased pulmonary blood flow results in progressive pulmonary vascular endothelial dysfunction and associated increased perioperative morbidity. Using our ovine model of congenital heart disease with increased pulmonary blood flow, we have previously demonstrated progressive endothelial dysfunction associated with disruption in carnitine homeostasis, mitochondrial dysfunction, decreased nitric oxide signaling, and enhanced reactive oxygen species generation...
July 18, 2017: Pediatric Critical Care Medicine
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