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Congenital heart defect

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https://www.readbyqxmd.com/read/28937040/surgical-outcomes-of-anomalous-origin-of-the-left-coronary-artery-from-the-pulmonary-artery-in-children-an-echocardiography-follow-up
#1
Yan Gao, Jing Zhang, Guo-Ying Huang, Xue-Cun Liang, Bing Jia, Xiao-Jing Ma
BACKGROUND: Anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) is a rare but potentially life-threatening congenital heart defect. A retrospective analysis was carried out to elucidate the surgical outcomes of ALCAPA in infants and children using follow-up echocardiography. METHODS: From September 2008 to March 2017, 26 children diagnosed with ALCAPA underwent left coronary re-implantation. All surviving patients received echocardiography during follow-up...
October 5, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28932594/misdiagnosis-of-anomalous-pulmonary-venous-connections-in-a-patient-with-lung-cancer-and-a-review-of-the-literature
#2
Nicola Tamburini, Irene Marchi, Matteo Bassi, Gabriele Anania, Francesco Quarantotto, Giorgio Cavallesco, Pio Maniscalco
A partial anomalous pulmonary venous connection (PAPVC) is a rare congenital defect in which at least one pulmonary vein doesn't drain into the left atrium but into a systemic vein or even into the right atrium, causing a left-to right shunt. PAPVC with a small amount of shunt are usually asymptomatic, and can not be detected during lifetime. Nevertheless, if those patients undergo a major lung resection, the surgical procedure could precipitate right heart failure if this anomalous shunt remains uncorrected...
August 2017: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/28932495/tough-but-not-impossible-retrieval-of-large-atrial-septal-occluder-devices-embolized-to-left-atrium
#3
Rangaraj Ramalingam, Shivanand Patil, Natraj Setty, Jayashree Kharge, Beeresha Puttegowda, Jayasheelan Mambally Rachaiah, Cholenahally Nanjappa Manjunath
Atrial septal defect (ASD) is a congenital heart defect that is being increasingly treated using percutaneous interventions. However, these techniques are not devoid of complications. One such complication is device embolization. Removal of such closure device poses tremendous risk and consequent complications both by percutaneous retrieval and surgical removal. Herein, we present two cases of ASDs that were closed using atrial septal occluder, but the devices were subsequently embolized into left atrium. These devices were then percutaneously retrieved without any further complication or injury...
March 2017: Interventional Medicine & Applied Science
https://www.readbyqxmd.com/read/28919627/ebstein-s-anomaly-associated-with-atrial-septal-defect-and-wolff-parkinson-white-wpw-syndrome
#4
M N Hasan, K Ahmed, S M Ahmed, M M Rahman
Ebstein's anomaly is a rare congenital heart disorder, accounting for <1% of all cases of congenital heart disease. It is a congenital malformation of the heart that is characterized by apical displacement of the septal and posterior tricuspid valve leaflets, leading to atrialization of the right ventricle with a variable degree of malformation and displacement of the anterior leaflet. We report the case of a 25 years old female with Ebstein's anomaly which was associated with Ostium Secundum type of atrial septal defect and WPW syndrome, who presented with dyspnea, palpitations, cyanosis, clubbing and cardiomegaly...
July 2017: Mymensingh Medical Journal: MMJ
https://www.readbyqxmd.com/read/28917495/complications-associated-with-implantable-cardioverter-defibrillators-in-adults-with-congenital-heart-disease-or-left-ventricular-noncompaction-cardiomyopathy-from-the-ncdr-%C3%A2-implantable-cardioverter-defibrillator-registry
#5
Marye J Gleva, Yongfei Wang, Jeptha P Curtis, Charles I Berul, Charles B Huddleston, Jeanne E Poole
Patients with childhood heart disease are living longer and entering adulthood, and may undergo implantable cardioverter-defibrillator (ICD) implantation to reduce the risk of sudden death. We evaluated the characteristics of adult patients with congenital heart disease or left ventricular noncompaction cardiomyopathy (LVNC) in the National Cardiovascular Disease Registry ICD Registry and determined ICD-related in-hospital complications. Patients with LVNC or transposition of the great arteries, tetralogy of Fallot, Ebstein's anomaly, atrial septal defect, ventricular septal defect, or common ventricle were identified in the registry...
August 8, 2017: American Journal of Cardiology
https://www.readbyqxmd.com/read/28917066/effectiveness-of-the-critical-congenital-heart-disease-screening-program-for-early-diagnosis-of-cardiac-abnormalities-in-newborn-infants
#6
Abdulmajid M Almawazini, Hamdi K Hanafi, Hasan A Madkhali, Noura B Majrashi
To evaluate the effectiveness of critical congenital heart disease (CCHD) screening program for early diagnosis of cardiac anomalies in newborn infants.  Methods: This is a hospital-based prospective cross-sectional study conducted in the Pediatric and Neonatology Department, King Fahad Hospital at  Albaha, Saudi Arabia, between February 2016 and February 2017. Results: We screened 2961 (95.4%) of 3103 patients in a nursery unit; 142 (4.6%) patients were not screened. The test was positive in 114 (3.9%) patients and negative in 2847 (96...
October 2017: Saudi Medical Journal
https://www.readbyqxmd.com/read/28915908/advances-in-paediatrics-in-2016-current-practices-and-challenges-in-allergy-autoimmune-diseases-cardiology-endocrinology-gastroenterology-infectious-diseases-neonatology-nephrology-neurology-nutrition-pulmonology
#7
REVIEW
Carlo Caffarelli, Francesca Santamaria, Dora Di Mauro, Carla Mastrorilli, Silvia Montella, Sergio Bernasconi
This review reports main progresses in various pediatric issues published in Italian Journal of Pediatrics and in international journals in 2016. New insights in clinical features or complications of several disorders may be useful for our better understanding. They comprise severe asthma, changing features of lupus erythematosus from birth to adolescence, celiac disease, functional gastrointestinal disorders, Moebius syndrome, recurrent pneumonia. Risk factors for congenital heart defects, Kawasaki disease have been widely investigated...
September 16, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/28914499/copy-number-variants-of-ras-mapk-pathway-genes-in-patients-with-isolated-cryptorchidism
#8
F Rodríguez, C Vallejos, F Giraudo, N Unanue, M I Hernández, P Godoy, S Célis, R Martín-Arenas, M Palomares-Bralo, K E Heath, M T López, F Cassorla
Cryptorchidism is the most common congenital disorder in boys, but the cause for most cases remains unknown. Patients with Noonan Syndrome are characterized by a typical face, growth retardation, congenital heart defects, learning disabilities and cryptorchidism. Copy number variations of Ras/MAPK pathway genes are unusual in patients with several clinical features of Noonan Syndrome; however, they have not been studied in patients with only one feature of this condition, such as cryptorchidism. Our aim was to determine whether patients with isolated cryptorchidism exhibit Ras/MAPK pathway gene copy number variations (CNVs)...
September 2017: Andrology
https://www.readbyqxmd.com/read/28914109/stem-cell-therapy-for-the-systemic-right-ventricle
#9
Ming-Sing Si, Richard G Ohye
In specific forms of congenital heart defects and pulmonary hypertension, the right ventricle (RV) is exposed to systemic levels of pressure overload. The RV is prone to failure in these patients because of its vulnerability to chronic pressure overload. As patients with a systemic RV reach adulthood, an emerging epidemic of RV failure has become evident. Medical therapies proven for LV failure are ineffective in treating RV failure. Areas covered: In this review, the pathophysiology of the failing RV under pressure overload is discussed, with specific emphasis on the pivotal roles of angiogenesis and oxidative stress...
September 15, 2017: Expert Review of Cardiovascular Therapy
https://www.readbyqxmd.com/read/28912723/increased-hemodynamic-load-in-early-embryonic-stages-alters-myofibril-and-mitochondrial-organization-in-the-myocardium
#10
Madeline Midgett, Claudia S López, Larry David, Alina Maloyan, Sandra Rugonyi
Normal blood flow is essential for proper heart formation during embryonic development, as abnormal hemodynamic load (blood pressure and shear stress) results in cardiac defects seen in congenital heart disease (CHD). However, the detrimental remodeling processes that relate altered blood flow to cardiac malformation and defects remain unclear. Heart development is a finely orchestrated process with rapid transformations that occur at the tissue, cell, and subcellular levels. Myocardial cells play an essential role in cardiac tissue maturation by aligning in the direction of stretch and increasing the number of contractile units as hemodynamic load increases throughout development...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28911804/case-report-left-ventricular-noncompaction-cardiomyopathy-and-rasopathies
#11
Juli Ann Sublett, Carlos Enrique Prada, John Lynn Jefferies
The following is a case report of 6 patients with Noonan syndrome (NS) and/or a related RASsopathy that also have evidence of left ventricular noncompaction cardiomyopathy (LVNC). Noonan syndrome,a type of RASopathy, is an autosomal dominant disorder that is typically associated with congenital heart defects and hypertrophic cardiomyopathy. There have been minimal reports of Noonan syndrome or other RASopathy and the association of LVNC. This report promulgates 6 nonrelated cases of Noonan syndrome or unspecified RASopathy and LVNC...
September 12, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28904256/current-surgical-outcomes-of-congenital-heart-surgery-for-patients-with-down-syndrome-in-japan
#12
Takaya Hoashi, Norimichi Hirahara, Arata Murakami, Yasutaka Hirata, Hajime Ichikawa, Junjiro Kobayashi, Shinichi Takamoto
BACKGROUND: Current surgical outcomes of congenital heart surgery for patients with Down syndrome are unclear.Methods and Results:Of 29,087 operations between 2008 and 2012 registered in the Japan Congenital Cardiovascular Surgery Database (JCCVSD), 2,651 were carried out for patients with Down syndrome (9%). Of those, 5 major biventricular repair procedures [ventricular septal defect repair (n=752), atrioventricular septal defect repair (n=452), patent ductus arteriosus closure (n=184), atrial septal defect repair (n=167), tetralogy of Fallot (TOF) repair (n=108)], as well as 2 major single ventricular palliations [bidirectional Glenn (n=21) and Fontan operation (n=25)] were selected and their outcomes were compared...
September 12, 2017: Circulation Journal: Official Journal of the Japanese Circulation Society
https://www.readbyqxmd.com/read/28903415/a-missense-mutation-in-tcn2-is-associated-with-decreased-risk-for-congenital-heart-defects-and-may-increase-cellular-uptake-of-vitamin-b12-via-megalin
#13
Peiqiang Li, Lijuan Huang, Yufang Zheng, Xuedong Pan, Rui Peng, Yueming Jiang, Richard H Finnell, Haijie Li, Bin Qiao, Hong-Yan Wang
Deregulation of folate and vitamin B12 (VB12) metabolism contributes to the risk of congenital heart defects (CHDs). Transcobalamin (TCN2) is essential for transporting VB12 from blood to cells as TCN2-bound VB12 (holo-TC) is the only form for somatic cellular uptake. In this study, we performed an association study between common polymorphisms in 46 one carbon metabolism genes and CHD in 412 CHDs and 213 controls. Only two significant association signals in coding regions were identified: FTCD c.1470C>T & TCN2 c...
August 15, 2017: Oncotarget
https://www.readbyqxmd.com/read/28902692/the-association-between-maternal-exposure-to-pollutant-particulate-matter-2-5-and-neonatal-congenital-heart-defects-a-systematic-review-protocol
#14
Katie C Hall, Jennifer C Robinson
The objective of this review is to identify if there is an association between maternal exposure to pollutant particulate matter 2.5 during the first trimester of pregnancy and neonatal congenital heart defects within the first year of life.
September 2017: JBI Database of Systematic Reviews and Implementation Reports
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
#15
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/28899436/educational-level-and-employment-status-in-adults-with-congenital-heart-disease
#16
Constanze Pfitzer, Paul C Helm, Lisa-Maria Rosenthal, Christoph Walker, Hannah Ferentzi, Ulrike M M Bauer, Felix Berger, Katharina R L Schmitt
Purpose Through this study we aimed to assess the educational level and employment status of adults with CHD in Germany. METHODS: Data were acquired from an online survey carried out in 2015 by the German National Register for Congenital Heart Defects. A total of 1458 adults with CHD participated in the survey (response rate: 37.6%). For 1198 participants, detailed medical information, such as main cardiac diagnosis and information from medical reports, was available. RESULTS: Of the participants surveyed (n=1198), 54...
September 13, 2017: Cardiology in the Young
https://www.readbyqxmd.com/read/28891481/cardiac-manifestations-in-children-with-inborn-errors-of-metabolism
#17
Kyriaki Papadopoulou-Legbelou, Maria Gogou, Athanasios Evangeliou
NEED AND PURPOSE: Cardiac involvement is a part of many inborn errors of metabolism, but has not been systematically studied. This review focuses on studies describing cardiac manifestations of inborn errors of metabolism in childhood. METHODS: Two independent reviewers searched the topic using PubMed database. Studies published within 20 years were considered, without applying any restrictions related to study design. Despite the small number of existing systematic studies on the topic, several case series/reports were identified...
August 15, 2017: Indian Pediatrics
https://www.readbyqxmd.com/read/28888041/supplementation-with-the-methyl-donor-betaine-prevents-congenital-defects-induced-by-prenatal-alcohol-exposure
#18
Ganga Karunamuni, Megan M Sheehan, Yong Qiu Doughman, Shi Gu, Jiayang Sun, Youjun Li, James P Strainic, Andrew M Rollins, Michael W Jenkins, Michiko Watanabe
BACKGROUND: Despite decades of public education about dire consequences of prenatal alcohol exposure, drinking alcohol during pregnancy remains prevalent. As high as 40% of live-born infants exposed to alcohol during gestation and diagnosed with Fetal Alcohol Syndrome have congenital heart defects that can be life-threatening. In animal models, the methyl donor betaine, found in foods such as wheat bran, quinoa, beets and spinach, ameliorated neurobehavioral deficits associated with prenatal alcohol exposure (PAE) but effects on heart development are unknown...
September 9, 2017: Alcoholism, Clinical and Experimental Research
https://www.readbyqxmd.com/read/28884940/variable-phenotypic-expression-in-a-large-noonan-syndrome-family-segregating-a-novel-sos1-mutation
#19
Dorothée C van Trier, Tuula Rinne, Kees Noordam, Jos M Draaisma, Ineke van der Burgt
Noonan syndrome (NS) is an autosomal dominant multisystem condition with a variable phenotype. The most characteristic features are short stature, congenital heart defects, and recognizable facial features. Mutations in SOS1 are found in 10-20% of patients with NS. Different genotype-phenotype studies mention correlations between SOS1 mutations and some features, such as ectodermal abnormalities and specific facial features. We present a large NS family with a novel pathogenic mutation; SOS1 c.3134C>G, p...
September 8, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28884922/congenital-heart-defects-in-molecularly-proven-kabuki-syndrome-patients
#20
Maria Cristina Digilio, Maria Gnazzo, Francesca Lepri, Maria Lisa Dentici, Elisa Pisaneschi, Anwar Baban, Chiara Passarelli, Rossella Capolino, Adriano Angioni, Antonio Novelli, Bruno Marino, Bruno Dallapiccola
The prevalence of congenital heart defects (CHD) in Kabuki syndrome ranges from 28% to 80%. Between January 2012 and December 2015, 28 patients had a molecularly proven diagnosis of Kabuki syndrome. Pathogenic variants in KMT2D (MLL2) were detected in 27 patients, and in KDM6A gene in one. CHD was diagnosed in 19/27 (70%) patients with KMT2D (MLL2) variant, while the single patient with KDM6A change had a normal heart. The anatomic types among patients with CHD included aortic coarctation (4/19 = 21%) alone or associated with an additional CHD, bicuspid aortic valve (4/19 = 21%) alone or associated with an additional CHD, perimembranous subaortic ventricular septal defect (3/19 = 16%), atrial septal defect ostium secundum type (3/19 = 16%), conotruncal heart defects (3/19 = 16%)...
September 8, 2017: American Journal of Medical Genetics. Part A
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