174,213 results match your criteria heart defects

[Multiple-center study of laparoscopic and open treatment of duodenal atresia].

Khirurgiia (Mosk) 2021 (5):5-13

Voyno-Yasenetsky Krasnoyarsk State Medical University, Krasnoyarsk, Russia.

Objective: To summarize data of a multiple-center study of the treatment of duodenal atresia in 3 children's hospitals of the Siberian Federal District.

Material And Methods: We analyzed postoperative outcomes in 211 patients with duodenal atresia. All patients underwent surgery at various hospitals of the Siberian Federal District: Ivano-Matreninsky Children's Clinical Hospital in Irkutsk (expert hospital) - 120 patients; Center for Maternal and Child Welfare in Krasnoyarsk (learning hospital No. Read More

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January 2021

Transcatheter Closure of Aortopulmonary Window in Infants with Amplatzer Duct Occluder-I.

Acta Cardiol Sin 2021 May;37(3):305-308

Department of Pediatric Cardiology, Istanbul Science of Health University, Mehmet Akif Ersoy Thoracic and Cardiovascular Surgery Training and Research Hospital, Istanbul, Turkey.

Aortopulmonary window (APW) is a septation defect between the ascending aorta and main pulmonary artery, and it accounts for 0.2-0.6% of all congenital heart diseases. Read More

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Ankyrin G organizes membrane components to promote coupling of cell mechanics and glucose uptake.

Nat Cell Biol 2021 May 10. Epub 2021 May 10.

Department of Biochemistry, University of Iowa Roy J. and Lucille A. Carver College of Medicine, Iowa City, IA, USA.

The response of cells to forces is critical for their function and occurs via rearrangement of the actin cytoskeleton. Cytoskeletal remodelling is energetically costly, yet how cells signal for nutrient uptake remains undefined. Here we present evidence that force transmission increases glucose uptake by stimulating glucose transporter 1 (GLUT1). Read More

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Whole genome sequencing reveals a frameshift mutation and a large deletion in YY1AP1 in a girl with a panvascular artery disease.

Hum Genomics 2021 May 10;15(1):28. Epub 2021 May 10.

Bioinformatics Unit, Institut Pasteur de Montevideo, Mataojo 2020, 11400, Montevideo, Uruguay.

Background: Rare diseases are pathologies that affect less than 1 in 2000 people. They are difficult to diagnose due to their low frequency and their often highly heterogeneous symptoms. Rare diseases have in general a high impact on the quality of life and life expectancy of patients, which are in general children or young people. Read More

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Cerebral oxygen saturation and cerebrovascular instability in newborn infants with congenital heart disease compared to healthy controls.

PLoS One 2021 10;16(5):e0251255. Epub 2021 May 10.

Department of Psychiatry, Keck School of Medicine, University of Southern California, Los Angeles, California, United States of America.

Objective: Infants with Congenital Heart Disease (CHD) are at risk for developmental delays, though the mechanisms of brain injury that impair development are unknown. Potential causes could include cerebral hypoxia and cerebrovascular instability. We hypothesized that we would detect significantly reduced cerebral oxygen saturation and greater cerebrovascular instability in CHD infants compared to the healthy controls. Read More

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Aortic valve surgery: management and outcomes in the paediatric population.

Eur J Pediatr 2021 May 10. Epub 2021 May 10.

Department of Paediatric Cardiac Surgery, Alder Hey Children's Hospital, Liverpool, UK.

Congenital anomalies of the aortic valve frequently necessitate intervention in childhood. The most common aortic valve pathologies present in childhood are aortic stenosis and insufficiency. Presentation of aortic valve disease depends on severity and presence of concomitant syndromes and valvular disorders. Read More

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Epigenetic Regulation of Cardiac Neural Crest Cells.

Front Cell Dev Biol 2021 21;9:678954. Epub 2021 Apr 21.

Department of Genetics, The University of Alabama at Birmingham, Birmingham, AL, United States.

The cardiac neural crest cells (cNCCs) is a transient, migratory cell population that contribute to the formation of major arteries and the septa and valves of the heart. Abnormal development of cNCCs leads to a spectrum of congenital heart defects that mainly affect the outflow region of the hearts. Signaling molecules and transcription factors are the best studied regulatory events controlling cNCC development. Read More

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Mutations in RNA Methyltransferase Gene Confer High Risk of Outflow Tract Malformation.

Front Cell Dev Biol 2021 21;9:623394. Epub 2021 Apr 21.

State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing, China.

, encoding a cytosine-5 RNA methyltransferase and located in the 7q11.23 locus, is a candidate gene for tetralogy of Fallot (TOF). Deletion of the 7q11. Read More

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Fatal outcome of congenital aortopulmonary window with patent ductus arteriosus complicating pregnancy.

Autops Case Rep 2021 Apr 15;11:e2021265. Epub 2021 Apr 15.

Post Graduate Institute of Medical Education & Research (PGIMER), Departments of Histopathology, Chandigarh, India.

Aortopulmonary window (APW) is a rare congenital heart defect with abnormal communication between the ascending aorta and the pulmonary trunk with two separate semilunar valves. We present an autopsy case report wherein a young primigravida woman presented with progressive breathlessness and central cyanosis at 21 weeks of gestation. Echocardiography performed in the emergency room revealed elevated right-sided cardiac pressures suggestive of severe pulmonary hypertension; however, no structural cardiac defect was discernible. Read More

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Quality of life in patients with Marfan syndrome: a cross-sectional study of 102 adult patients.

Cardiovasc Diagn Ther 2021 Apr;11(2):602-610

Department of Sport and Health Sciences, Chair of Sport Psychology, Technical University Munich, Munich, Germany.

Background: Marfan syndrome (MFS) is a genetically determined multiorgan disease that leads to severe physiological and psychological impairments in adult life. Little consensus exists regarding quality of life (QOL) in individuals with MFS. The present study sought to investigate QOL in a representative cohort of adults with MFS. Read More

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Therapy of supraventricular and ventricular arrhythmias in adults with congenital heart disease-narrative review.

Cardiovasc Diagn Ther 2021 Apr;11(2):550-562

Department of Cardiology II - Electrophysiology, University Hospital Muenster, Cardiology, Muenster, Germany.

Arrhythmias are among the most common late complications in adults with congenital heart disease (ACHD) and a frequent reason for hospital admission. Both, supraventricular and ventricular arrhythmias, not only cause debilitating symptoms, but may be life-threatening by increasing risk of stroke, causing or worsening heart failure and being associated with sudden death. Substrate and risk for arrhythmia differs widely between congenital defects with specific arrhythmias being much more common in some patients than others. Read More

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Narrative review of: risk stratification and implantable cardioverter-defibrillator therapy in adults with congenital heart disease.

Cardiovasc Diagn Ther 2021 Apr;11(2):538-549

Department of Cardiology II - Electrophysiology, University Hospital Muenster, Muenster, Germany.

Fortunately, the population of adults with congenital heart disease (ACHD) is growing due to improved operation techniques. Life expectancy is continuously rising, nevertheless, sudden cardiac death is one of the leading causes of mortality in ACHD late after initial diagnosis. Risk stratification in ACHD remains challenging as large study results are missing, congenital defects and operation methods differ considerably between individual patients and results from acquired heart diseases are often not conferrable. Read More

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German Heart Centre Munich-45 years of surgery in adults with congenital heart defects: from primary corrections of septal defects and coarctation to complex reoperations.

Cardiovasc Diagn Ther 2021 Apr;11(2):492-502

Department of Congenital and Paediatric Heart Surgery, German Heart Centre Munich, Technische Universität München, Munich, Germany.

Background: Our historical overview in the form of a cohort study aimed to describe the changes in the cardiac operations in adults with congenital heart disease (ACHD), over 45 years in the German Heart Centre in Munich.

Methods: The study population comprised all consecutive patients aged 18 or more, who underwent surgery for congenital heart disease (CHD) at the German Heart Centre Munich, between 1974 and 2018. Operations were coded according to the Adult Congenital Heart Surgery (ACHS) score. Read More

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Systematic assessment of health care perception in adults with congenital heart disease in Germany.

Cardiovasc Diagn Ther 2021 Apr;11(2):481-491

Department of Congenital Heart Disease and Pediatric Cardiology, German Heart Center Munich, Technical University Munich, Germany.

Background: The number of adults with congenital heart disease (ACHD) is steadily rising due to increased survival rate and improved medical resources. Accordingly, more than 330,000 ACHD are currently living in Germany. Almost all of them require lifelong specialized medical follow-up for their chronic heart disease, often accompanied by residua, sequelae, or comorbidities. Read More

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A new ECG sign for sudden death: Transient prolonged QT interval following premature contraction.

Zhong Nan Da Xue Xue Bao Yi Xue Ban 2021 Apr;46(4):444-448

Department of Cardiology, Third Xiangya Hospital, Central South University, Changsha 410013, China.

Early recognition and treatment for early warning electrocardiogram (ECG) of sudden death are very important to prevent and treat malignant arrhythmia and sudden death. Previous studies have found that R-on-T and T wave alternation, and QT interval prolongation are closely related to malignant arrhythmia or sudden death, which are included in the critical value of ECG.By analyzing the ECG characteristics of 4 patients with sudden death, we found that although the causes of the patients were different, there were transient prolongation of QT interval after premature contraction in 12 lead ECG, followed by malignant arrhythmia or sudden death. Read More

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Cardiofaciocutaneous syndrome with BRAF gene mutation: A case report and literature review.

Zhong Nan Da Xue Xue Bao Yi Xue Ban 2021 Apr;46(4):432-437

Department of Pediatrics, Xiangya Hospital, Central South University; Research Center of Children Intellectual Disability of Hunan Province, Changsha 410008, China.

Cardio-facio-cutaneous (CFC) syndrome is an extremely rare autosomal dominant genetic disease due to BRAF and other gene mutations. The main characteristics of the patients are craniofacial deformities, cardiac malformations, skin abnormalities, delay of language and motor development, gastrointestinal dysfunction, intellectual disability, and epilepsy. In this case, the child has a typical CFC syndrome face and developmental delay. Read More

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Prenatal diagnosis of maternal uniparental disomy 16 associated with mosaic trisomy 16 at amniocentesis, and pericardial effusion and intrauterine growth restriction in the fetus.

Taiwan J Obstet Gynecol 2021 May;60(3):534-539

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.

Objective: We present prenatal diagnosis of maternal uniparental disomy (UPD) 16 associated with mosaic trisomy 16 at amniocentesis, and pericardial effusion and intrauterine growth restriction (IUGR) in the fetus.

Case Report: A 38-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age, and the result was 47,XX,+16[2]/46,XX[54]. Simultaneous array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes revealed 14% mosaicism for trisomy 16 and a paternally inherited 319-kb microdeletion of 15q11. Read More

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Signal Detection in EUROmediCAT: Identification and Evaluation of Medication-Congenital Anomaly Associations and Use of VigiBase as a Complementary Source of Reference.

Drug Saf 2021 May 9. Epub 2021 May 9.

Population Health Research Institute, St George's, University of London, London, UK.

Introduction: Knowledge on the safety of medication use during pregnancy is often sparse. Pregnant women are generally excluded from clinical trials, and there is a dependence on post-marketing surveillance to identify teratogenic medications.

Aims: This study aimed to identify signals of potentially teratogenic medications using EUROmediCAT registry data on medication exposure in pregnancies with a congenital anomaly, and to investigate the use of VigiBase reports of adverse events of medications in the evaluation of these signals. Read More

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Neurocognitive disorders amongst patients with congenital heart disease undergoing procedures in childhood.

Int J Cardiol 2021 May 6. Epub 2021 May 6.

McGill Adult Unit for Congenital Heart Disease Excellence, McGill University, Montreal, QC, Canada. Electronic address:

Background: Amongst children with congenital heart disease (CHD), earlier age of repair improves cardiovascular outcomes. The effects of early intervention on neurodevelopment remains unclear. We assessed the association between early life repair, cardiopulmonary bypass (CPB) and the incidence of neurocognitive disorders (NCD) amongst CHD patients. Read More

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Recent developments in next-generation occlusion devices.

Acta Biomater 2021 May 5. Epub 2021 May 5.

Center for Composite Materials and Structures, Harbin Institute of Technology (HIT), P.O. Box 3011, No. 2 Yikuang Street, Harbin 150080, People's Republic of China. Electronic address:

Transcatheter closure has been widely accepted as a highly effective way to treat abnormal blood flows and/or embolization of thrombus in the heart. It allows the closure of four types of congenital heart defects (CHDs) and stroke-associated left atrial appendage (LAA). The four types of CHDs include atrial septal defect (ASD), patent foramen ovale (PFO), patent ductus arteriosus (PDA), and ventricular septal defect (VSD). Read More

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Introduction to the special focus on the development of the autonomic nervous system.

Birth Defects Res 2021 May 8. Epub 2021 May 8.

Department of Pediatrics, Case Western Reserve University School of Medicine, The Congenital Heart Collaborative, Rainbow Babies and Children's Hospital, Cleveland, Ohio, USA.

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Genetic evaluation of newborns with critical congenital heart defects admitted to the intensive care unit.

Eur J Pediatr 2021 May 7. Epub 2021 May 7.

Department of Clinical Genetics, University Children's Hospital, Belgrade, Serbia.

Rapid and efficient diagnostics is crucial for newborns with congenital heart defects (CHD) in intensive care unit (ICU) but is often challenging. Given that genetic factors play a role in 20-30% cases of CHD, it is likely that genetic tests could improve both its speed and efficiency. We aimed to analyze the utility of rapid and cost-effective multiplex ligation dependent probe amplification analysis (MLPA) for chromosomal analysis in newborns with critical CHD. Read More

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Genetics of canine subvalvular aortic stenosis (SAS).

Canine Med Genet 2021 May 7;8(1). Epub 2021 May 7.

Department of Medicine and Epidemiology, School of Veterinary Medicine, University of California Davis, Davis, CA, 95616, USA.

Subvalvular aortic stenosis (SAS) is one of the most common congenital heart defects of dogs. The disease is characterized by obstruction of the left ventricular outflow tract, resulting in pressure overload on the left ventricle. The etiology of obstruction is a fibromuscular nodule, ridge, or ring of tissue that increases aortic outflow tract velocity. Read More

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Influenza vaccination in congenital heart disease in the pre-COVID19 era: Coverage rate, patient characteristics and outcome.

Can J Cardiol 2021 May 4. Epub 2021 May 4.

Department of Pediatric Cardiology, Ghent University Hospital, Ghent, Belgium.

Background: Influenza vaccination is the most commonly recommended immune prevention strategy. However, data on influenza vaccination in patients with congenital heart disease (CHD) is scarce. In this study, our goals were to (i) measure vaccination coverage rates (VCR) for influenza in a large cohort of children, adolescents and adults with CHD, (ii) identity patient characteristics as predictors for vaccination, and (iii) investigate the impact of influenza vaccination on hospitalization. Read More

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Myocarditis: Which Role for Genetics?

Curr Cardiol Rep 2021 May 7;23(6):58. Epub 2021 May 7.

Cardiothoracovascular Department, Azienda Sanitaria Universitaria Giuliano Isontina (ASUGI) and University of Trieste, Via Valdoni 7, 34129, Trieste, Italy.

Purpose Of Review: Myocarditis is a polymorphic disease, both in its presentation and clinical course. Recent data suggests that the genetic background, interacting with environmental factors, could be diriment both in the susceptibility and evolution of myocarditis in different clinical presentations. The aim of this paper is to expose the current available evidences and the evolving concepts on this topic, in order to provide insight for improving the clinical management of those patients. Read More

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Smyd1 is essential for myosin expression and sarcomere organization in craniofacial, extraocular, and cardiac muscles.

J Genet Genomics 2021 Apr 7. Epub 2021 Apr 7.

Department of Biochemistry and Molecular Biology, Institute of Marine and Environmental Technology, University of Maryland School of Medicine, Baltimore, MD 21202, USA. Electronic address:

Skeletal and cardiac muscles are striated myofibers that contain highly organized sarcomeres for muscle contraction. Recent studies revealed that Smyd1, a lysine methyltransferase, plays a key role in sarcomere assembly in heart and trunk skeletal muscles. However, Smyd1 expression and function in craniofacial muscles are not known. Read More

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Toward Eliminating Perinatal Comfort Care for Prenatally Diagnosed Severe Congenital Heart Defects: A Vision.

Mayo Clin Proc 2021 05;96(5):1276-1287

Division of Maternal-Fetal Medicine, Mayo Clinic, Rochester, MN.

Over the past 40 years, the medical and surgical management of congenital heart disease has advanced considerably. However, substantial room for improvement remains for certain lesions that have high rates of morbidity and mortality. Although most congenital cardiac conditions are well tolerated during fetal development, certain abnormalities progress in severity over the course of gestation and impair the development of other organs, such as the lungs or airways. Read More

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Targeted truncation of the ADAM17 cytoplasmic domain in mice results in protein destabilization and a hypomorphic phenotype.

J Biol Chem 2021 May 3:100733. Epub 2021 May 3.

Physiology, Biophysics and Systems Biology Program, Weill Cornell Medicine, New York, NY, 10021, USA; Arthritis and Tissue Degeneration Program, Hospital for Special Surgery, New York, NY, 10021, USA; Institute for Advanced Study, Technische Universität München, D-85748 Garching, Germany; Department of Medicine, Physiology and Systems Biology, Weill Cornell Medicine, New York, NY, 10021, USA; Department of Biophysics, Physiology and Systems Biology, Weill Cornell Medicine, New York, NY 10021, USA. Electronic address:

A disintegrin and metalloprotease 17 (ADAM17) is a cell-surface metalloprotease that serves as the principle sheddase for Tumor necrosis factor α (TNFα), interleukin-6 receptor (IL-6R) and several ligands of the epidermal growth factor receptor (EGFR), regulating these crucial signaling pathways. ADAM17 activation requires its transmembrane domain, but not its cytoplasmic domain, and little is known about the role of this domain in vivo. To investigate, we used CRISPR-Cas9 to mutate the endogenous Adam17 locus in mice to produce a mutant ADAM17 lacking its cytoplasmic domain (Adam17Δcyto). Read More

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Discordant congenital heart defects in monochorionic twins: Risk factors and proposed pathophysiology.

PLoS One 2021 6;16(5):e0251160. Epub 2021 May 6.

David Geffen School of Medicine, UCLA, Los Angeles, California, United States of America.

A six-fold increase in congenital heart defects (CHD) exists among monochorionic (MC) twins compared to singleton or dichorionic twin pregnancies. Though MC twins share an identical genotype, discordant phenotypes related to CHD and other malformations have been described, with reported rates of concordance for various congenital anomalies at less than 20%. Our objective was to characterize the frequency and spectrum of CHD in a contemporary cohort of MC twins, coupled with genetic and clinical variables to provide insight into risk factors and pathophysiology of discordant CHD in MC twins. Read More

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Notch regulates vascular collagen IV basement membrane through modulation of lysyl hydroxylase 3 trafficking.

Angiogenesis 2021 May 6. Epub 2021 May 6.

Department of Biological Sciences, University of Denver, Denver, CO, 80210, USA.

Collagen type IV (Col IV) is a basement membrane protein associated with early blood vessel morphogenesis and is essential for blood vessel stability. Defects in vascular Col IV deposition are the basis of heritable disorders, such as small vessel disease, marked by cerebral hemorrhage and drastically shorten lifespan. To date, little is known about how endothelial cells regulate the intracellular transport and selective secretion of Col IV in response to angiogenic cues, leaving a void in our understanding of this critical process. Read More

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