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Cardiac congenital defects

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https://www.readbyqxmd.com/read/28932688/alg9-cdg-new-clinical-case-and-review-of-the-literature
#1
Kellie Davis, Duncan Webster, Chris Smith, Sheryl Jackson, David Sinasac, Lorne Seargeant, Xing-Chang Wei, Patrick Ferreira, Julian Midgley, Yolanda Foster, Xueli Li, Miao He, Walla Al-Hertani
Congenital disorders of glycosylation (CDG) are a group of metabolic diseases resulting from defects in glycan synthesis or processing. The number of subgroups and their phenotypic spectrums continue to expand with most related to deficiencies of N-glycosylation. ALG9-CDG (previously CDG-IL) is the result of a mutation in ALG9. This gene encodes the enzyme alpha-1,2-mannosyltransferase. To date, a total of 10 patients from 6 different families have been reported with one of four ALG9 mutations. Seven of these patients had a similar phenotype with failure to thrive, dysmorphic features, seizures, hepatic and/or renal cysts; the other three patients died in utero from a lethal skeletal dysplasia...
December 2017: Molecular Genetics and Metabolism Reports
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/28912723/increased-hemodynamic-load-in-early-embryonic-stages-alters-myofibril-and-mitochondrial-organization-in-the-myocardium
#4
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/28899882/chromosome-15-structural-abnormalities-effect-on-igf1r-gene-expression-and-function
#5
Rossella Cannarella, Teresa Mattina, Rosita A Condorelli, Laura M Mongioì, Giuseppe Pandini, Sandro La Vignera, Aldo E Calogero
Insulin-like growth factor 1 receptor (IGF1R), mapping on the 15q26.3 chromosome, is required for normal embryonic and postnatal growth. The aim of the present study was to evaluate the IGF1R gene expression and function in three unrelated patients with chromosome 15 structural abnormalities. We report two male patients with the smallest 15q26.3 chromosome duplication described so far, and a female patient with ring chromosome 15 syndrome. Patient one, with a 568 kb pure duplication, had overgrowth, developmental delay, mental and psychomotor retardation, obesity, cryptorchidism, borderline low testis volume, severe oligoasthenoteratozoospermia and gynecomastia...
October 2017: Endocrine Connections
https://www.readbyqxmd.com/read/28899436/educational-level-and-employment-status-in-adults-with-congenital-heart-disease
#6
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/28894478/diagnosis-of-primary-ciliary-dyskinesia-summary-of-the-ers-task-force-report
#7
Claudia E Kuehni, Jane S Lucas
KEY POINTS: Primary ciliary dyskinesia (PCD) is a genetically and clinically heterogeneous disease characterised by abnormal motile ciliary function.There is no "gold standard" diagnostic test for PCD.The European Respiratory Society (ERS) Task Force Guidelines for diagnosing PCD recommend that patients should be referred for diagnostic testing if they have several of the following features: persistent wet cough; situs anomalies; congenital cardiac defects; persistent rhinitis; chronic middle ear disease with or without hearing loss; or a history, in term infants, of neonatal upper and lower respiratory symptoms or neonatal intensive care admission...
September 2017: Breathe
https://www.readbyqxmd.com/read/28891481/cardiac-manifestations-in-children-with-inborn-errors-of-metabolism
#8
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/28891233/fetoscopic-tracheal-occlusion-for-treatment-of-non-isolated-congenital-diaphragmatic-hernia
#9
Viola Seravalli, Eric B Jelin, Jena L Miller, Aylin Tekes, Luca Vricella, Ahmet A Baschat
Fetoscopic endotracheal occlusion (FETO) is a prenatal treatment that may increase survival in severe congenital diaphragmatic hernia (CDH). In the USA, FETO is offered for isolated severe left-sided CDH in the context of an FDA-approved feasibility study. FETO in non-isolated cases of severe CDH is only performed with a compassionate use exemption from US regulatory bodies. Anomalies frequently associated with CDH include congenital cystic lesions of the lung and cardiac defects. We describe two cases of non-isolated severe left-sided CDH that underwent prenatal FETO, survived after birth and underwent postnatal surgical repair...
August 11, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28888041/supplementation-with-the-methyl-donor-betaine-prevents-congenital-defects-induced-by-prenatal-alcohol-exposure
#10
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/28881023/double-outlet-left-ventricle-with-a-bicuspid-pulmonary-valve-and-aortic-coarctation
#11
Feifei Sun, Miao Fan, Liping Huang, Weidong Ren, Dongyu Li
A double-outlet left ventricle (DOLV) is a rare congenital cardiac malformation. Here, we describe a case of DOLV with bicuspid pulmonary valve, aortic coarctation, and a subpulmonary ventricular septal defect in which both ventricles were well developed. The anatomic features were observed with echocardiography, and the diagnosis was confirmed at surgery. Many variations of DOLV have been described. The features of our case expand the spectrum of this entity and may provide new insight into its complex anatomy...
September 7, 2017: Journal of Clinical Ultrasound: JCU
https://www.readbyqxmd.com/read/28878577/echocardiographic-classification-and-surgical-approaches-to-double-outlet-right-ventricle-for-great-arteries-arising-almost-exclusively-from-the-right-ventricle
#12
Kun-Jing Pang, Hong Meng, Sheng-Shou Hu, Hao Wang, David Hsi, Zhong-Dong Hua, Xiang-Bin Pan, Shou-Jun Li
Selecting an appropriate surgical approach for double-outlet right ventricle (DORV), a complex congenital cardiac malformation with many anatomic variations, is difficult. Therefore, we determined the feasibility of using an echocardiographic classification system, which describes the anatomic variations in more precise terms than the current system does, to determine whether it could help direct surgical plans. Our system includes 8 DORV subtypes, categorized according to 3 factors: the relative positions of the great arteries (normal or abnormal), the relationship between the great arteries and the ventricular septal defect (committed or noncommitted), and the presence or absence of right ventricular outflow tract obstruction (RVOTO)...
August 2017: Texas Heart Institute Journal
https://www.readbyqxmd.com/read/28878122/wnt11-regulates-cardiac-chamber-development-and-disease-during-perinatal-maturation
#13
Marlin Touma, Xuedong Kang, Fuying Gao, Yan Zhao, Ashley A Cass, Reshma Biniwale, Xinshu Xiao, Mansuoreh Eghbali, Giovanni Coppola, Brian Reemtsen, Yibin Wang
Ventricular chamber growth and development during perinatal circulatory transition is critical for functional adaptation of the heart. However, the chamber-specific programs of neonatal heart growth are poorly understood. We used integrated systems genomic and functional biology analyses of the perinatal chamber specific transcriptome and we identified Wnt11 as a prominent regulator of chamber-specific proliferation. Importantly, downregulation of Wnt11 expression was associated with cyanotic congenital heart defect (CHD) phenotypes and correlated with O2 saturation levels in hypoxemic infants with Tetralogy of Fallot (TOF)...
September 7, 2017: JCI Insight
https://www.readbyqxmd.com/read/28874283/mortality-in-adults-with-congenital-heart-disease
#14
Pavithra Naidu, Leeanne Grigg, Dominica Zentner
AIM: Retrospective ascertainment of the causes of mortality in the adult congenital heart disease (ACHD) cohort of the Royal Melbourne Hospital (RMH). METHODS: Deceased patients (n=73) of the 2519 ACHD patients in the Royal Melbourne Hospital registry (commenced in 1991) were identified. Retrospective analysis was undertaken. Age, gender of deceased individuals, and frequency and cause of death in different congenital diagnosis groups was explored. RESULTS: Between 1991 and 2015, death occurred in 3...
October 15, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28872655/fosterkardiologiska-erfarenheter-fr%C3%A3-n-astrid-lindgrens-barnsjukhus
#15
Felicia Nordenstam, Sven-Erik Sonesson
Fetal Cardiology. Experiences from a tertiary referral centre in Stockholm, Sweden This review provides a brief overview of the current position and clinical experiences of fetal cardiology at a tertiary referral centre in Stockholm, Sweden. In Stockholm, more than 60% of congenital cardiac defects requiring surgery or catheter intervention before one year of age are detected before birth. This not only results in termination of pregnancy in the majority of cases carrying a poor prognosis, but also conveys a better postnatal care and prognosis in cases of continued pregnancy...
August 29, 2017: Läkartidningen
https://www.readbyqxmd.com/read/28871660/clinical-echocardiographic-and-therapeutic-aspects-of-congenital-heart-diseases-of-children-at-douala-general-hospital-a-cross-sectional-study-in-sub-saharan-africa
#16
Félicité Kamdem, Danielle Kedy Koum, Ba Hamadou, Mélanie Yemdji, Henry Luma, Marie Solange Doualla, Diomède Noukeu, Esther Barla, Christophe Akazong, Anastase Dzudie, Henry Ngote, Yves Monkam, Sidiki Mouliom, Samuel Kingue
INTRODUCTION: Cardiovascular diseases in pediatric pathologies have emerged in the recent years in sub-Saharan Africa (SSA), with congenital heart diseases (CHDs) being the most frequent. Unfortunately, their diagnosis is usually delayed, thereby increasing childhood morbidity and mortality. OBJECTIVES: Describe the clinical, echocardiographic, and therapeutic aspects of CHDs of children at Douala General Hospital. METHODS: We carried out a cross-sectional descriptive study over a 10-year period, from January 2006 to December 2015...
September 4, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28867155/the-boundaries-of-fetal-cardiac-intervention-expand-or-tighten
#17
REVIEW
Laura Gellis, Wayne Tworetzky
Fetal cardiac intervention (FCI) is a relatively new and continually evolving field, and, for select cardiac defects, offers the potential to alter the progression of the disease and improve outcomes. It is a procedure that requires a collaborative effort between maternal-fetal medicine, interventional cardiology and fetal echo/ultrasound specialists, as well as fetal and maternal anesthesiologists, nursing specialists, and social workers. This article reviews the most recently reported data and advances in FCI...
August 31, 2017: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28858551/the-anesthetic-management-for-a-patient-with-trisomy-13
#18
Masanori Tsukamoto, Takashi Hitosugi, Kanako Esaki, Takeshi Yokoyama
Trisomy 13 is a chromosomal disorder that occurs in complete or partial mosaic forms. It is characterized by central apnea, mental retardation, seizure and congenital heart disease. The survival of the patients with trisomy 13 is the majority dying before one month. Trisomy 13 is the worst life prognosis among all trisomy syndromes. It is reported the cause of death is central apnea. Special needs patients with mental retardation are recognized to have poorer oral health condition. Oral health related quality of life reflects daily activity and well-being...
2017: Anesthesia Progress
https://www.readbyqxmd.com/read/28858090/prenatal-ultrasonic-diagnosis-of-absent-pulmonary-valve-syndrome-a-case-report
#19
Wen-Jun Zhang, Zhong-Lei Zhang, Jun-Jie Chang, Xiao-Yu Song
RATIONALE: Absent pulmonary valve syndrome (APVS) is a rare congenital heart disease that is often associated with tetralogy of Fallot (TOF). Here, we report 2 cases of APVS associated with TOF diagnosed via fetal echocardiography and discuss their specific ultrasonographic characteristics. PATIENT CONCERNS: Two pregnant women with suspicion of fetal heart anomaly were referred from their local hospitals to our hospital for fetal malformation screening and detailed fetal echocardiography...
September 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28843330/adult-congenital-heart-disease-intervention-the-canadian-landscape
#20
MULTICENTER STUDY
Claudia Frankfurter, Anita W Asgar, John G Webb, Warren J Cantor, James L Velianou, François Gobeil, Albert W Chan, Robert C Welsh, Michael P Love, David A Wood, Kevin McKenzie, Eric M Horlick
Once considered a childhood disease, the number of adults living with congenital heart disease (CHD) has now exceeded the number of pediatric patients. The landscape of percutaneous intervention for adult congenital heart disease (ACHD) has evolved over the past decade and has yet to be characterized in Canada. The aim of this study was to begin to understand the current infrastructure underlying ACHD interventions in Canada and to characterize the type and number of interventions being carried out across the country...
September 2017: Canadian Journal of Cardiology
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