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https://www.readbyqxmd.com/read/28919627/ebstein-s-anomaly-associated-with-atrial-septal-defect-and-wolff-parkinson-white-wpw-syndrome
#1
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
#2
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
#3
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
#4
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/28915332/obesity-and-cardiometabolic-defects-in-heart-failure-pathology
#5
Ganesh V Halade, Vasundhara Kain
Obesity is a major global epidemic that sets the stage for diverse multiple pathologies, including cardiovascular disease. The obesity-related low-grade chronic inflamed milieu is more pronounced in aging and responsive to cardiac dysfunction in heart failure pathology. Metabolic dysregulation of obesity integrates with immune reservoir in spleen and kidney network. Therefore, an integrative systems biology approach is necessary to delay progressive cardiac alternations. The purpose of this comprehensive review is to largely discuss the impact of obesity on the cardiovascular pathobiology in the context of problems and challenges, with major emphasis on the diversified models, and to study cardiac remodeling in obesity...
September 12, 2017: Comprehensive Physiology
https://www.readbyqxmd.com/read/28914499/copy-number-variants-of-ras-mapk-pathway-genes-in-patients-with-isolated-cryptorchidism
#6
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
#7
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
#8
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/28912186/cardiomyopathies-due-to-left-ventricular-noncompaction-mitochondrial-and-storage-diseases-and-inborn-errors-of-metabolism
#9
REVIEW
Jeffrey A Towbin, John Lynn Jefferies
The normal function of the human myocardium requires the proper generation and utilization of energy and relies on a series of complex metabolic processes to achieve this normal function. When metabolic processes fail to work properly or effectively, heart muscle dysfunction can occur with or without accompanying functional abnormalities of other organ systems, particularly skeletal muscle. These metabolic derangements can result in structural, functional, and infiltrative deficiencies of the heart muscle. Mitochondrial and enzyme defects predominate as disease-related etiologies...
September 15, 2017: Circulation Research
https://www.readbyqxmd.com/read/28911804/case-report-left-ventricular-noncompaction-cardiomyopathy-and-rasopathies
#10
John Lynn Jefferies, Carlos Enrique Prada, Juli Ann Sublett
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 11, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28911200/homozygous-eef1a2-mutation-causes-dilated-cardiomyopathy-failure-to-thrive-global-developmental-delay-epilepsy-and-early-death
#11
Siqi Cao, Laura L Smith, Sergio R Padilla-Lopez, Brandon S Guida, Elizabeth Blume, Jiahai Shi, Sarah U Morton, Catherine A Brownstein, Alan H Beggs, Michael C Kruer, Pankaj B Agrawal
Eukaryotic elongation factor 1A (EEF1A), is encoded by two distinct isoforms, EEF1A1 and EEF1A2; whereas EEF1A1 is expressed almost ubiquitously, EEF1A2 expression is limited such that it is only detectable in skeletal muscle, heart, brain and spinal cord. Currently, the role of EEF1A2 in normal cardiac development and function is unclear. There have been several reports linking de novo dominant EEF1A2 mutations to neurological issues in humans. We report a pair of siblings carrying a homozygous missense mutation p...
September 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28905979/-cyanosis-in-a-calf-with-a-double-outlet-right-ventricle
#12
Nicola Wiedemann, Nicolai Hildebrandt, Manfred Henrich, Estelle Henrich, Matthias Schneider
A 4-day-old female Holstein Friesian calf was presented for evaluation of cyanosis and dyspnea. On auscultation, severe bronchovesicular sounds and a systolic heart murmur of grade IV/VI above the tricuspid valve were found. On echocardiography, a marked dextroposition of the aorta (> 50% originating from the right ventricle), leading to both great arteries arising from the right ventricle - a so-called double-outlet right ventricle - was detected. Two ventricular septal defects were present, one in the perimembranous, subpulmonary region, the other non-committed in the muscular region...
September 13, 2017: Tierärztliche Praxis. Ausgabe G, Grosstiere/Nutztiere
https://www.readbyqxmd.com/read/28905236/diagnosis-of-coronary-artery-disease-using-an-efficient-hash-table-based-closed-frequent-itemsets-mining
#13
Ramesh Dhanaseelan, M Jeya Sutha
This paper proposes an efficient hash table based closed frequent itemsets (HCFI) mining algorithm to envisage coronary artery disease early. HCFI algorithm generates closed frequent itemsets efficiently by performing intersection operation on transaction id's of itemset without considering the name of item/itemset. The employed hash table reduces search efficiency to O(1) or constant time. HCFI algorithm is applied on the UCI (University of California, Irvine) Cleveland dataset, a biological database of cardiovascular disease to generate closed frequent itemsets on the dataset...
September 14, 2017: Medical & Biological Engineering & Computing
https://www.readbyqxmd.com/read/28904928/prenatal-sonographic-diagnosis-of-hypoplastic-left-heart-syndrome
#14
Raghu Teja Sadineni, B Santh Kumar, N B Chander, Durga Mahita Boppana
Hypoplastic left heart syndrome (HLHS) represents a variety of cardiac malformations that may result from errors in the early stages of cardiac development. HLHS includes a wide spectrum of cardiac malformations including hypoplasia of the left ventricle, ascending aorta, hypoplasia, or atresia of the aortic and mitral valves. Over the recent years, the improved resolution of advanced equipment with awareness and increased performance of second-trimester ultrasound examinations for the assessment of fetal anomalies have helped in understanding the spectrum and have expanded our knowledge of HLHS...
July 2017: International Journal of Applied and Basic Medical Research
https://www.readbyqxmd.com/read/28904256/current-surgical-outcomes-of-congenital-heart-surgery-for-patients-with-down-syndrome-in-japan
#15
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
#16
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
#17
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
#18
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
#19
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/28895188/an-alternative-technique-of-atrial-septectomy-during-bidirectional-superior-cavopulmonary-anastomosis
#20
Sachin Talwar, Yatin Arora, Sukhjeet Singh, Balram Airan
An atrial septectomy is often required to create or enlarge a pre-existing restrictive atrial septal defect in patients with univentricular hearts undergoing the bidirectional superior cavopulmonary anastomosis. We describe an alternative surgical technique through the transected cardiac end of the superior vena cava without a right atriotomy successfully performed in 26 patients.
September 11, 2017: Journal of Cardiac Surgery
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