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Congenital heart diseases and genetics

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https://www.readbyqxmd.com/read/28807900/heart-morphogenesis-gene-regulatory-networks-revealed-by-temporal-expression-analysis
#1
Jonathon T Hill, Bradley Demarest, Megan Smith, Bushra Gorsi, H Joseph Yost
During embryogenesis, the heart forms as a linear tube that then undergoes multiple simultaneous morphogenetic events to obtain its mature shape. To understand the gene regulatory networks (GRNs) driving this phase of heart development, during which many congenital heart disease malformations likely arise, we conducted an RNA-seq time course in zebrafish from 30 hpf to 72 hpf and identified 5,861 genes with altered expression. We then clustered the genes by temporal expression pattern, identified transcription factor binding motifs enriched in each cluster, and generated a model GRN for the major gene batteries in heart morphogenesis...
August 14, 2017: Development
https://www.readbyqxmd.com/read/28803248/a-functional-assay-for-sick-sinus-syndrome-genetic-variants
#2
Chuanchau J Jou, Cammon B Arrington, Spencer Barnett, Jiaxiang Shen, Scott Cho, Xiaoming Sheng, Patrick C McCullagh, Neil E Bowles, Chase M Pribble, Elizabeth V Saarel, Thomas A Pilcher, Susan P Etheridge, Martin Tristani-Firouzi
BACKGROUND/AIMS: Congenital Sick Sinus Syndrome (SSS) is a disorder associated with sudden cardiac death due to severe bradycardia and prolonged pauses. Mutations in HCN4, the gene encoding inward Na+/K+ current (If), have been described as a cause of congenital SSS. The objective of this study is to develop an SSS model in embryonic zebrafish, and use zebrafish as a moderate-throughput assay to functionally characterize HCN4 variants. METHODS: To determine the function of hcn4 in zebrafish, embryos were either bathed in the If -specific blocker (ZD-7288), or endogenous hcn4 expression was knocked down using splice-blocking morpholinos...
August 11, 2017: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/28782493/big-data-and-genome-editing-technology-a-new-paradigm-of-cardiovascular-genomics
#3
Chayakrit Krittanawong, Tao Sun, Eyal Herzog
Cardiovascular diseases (CVDs) encompasse a range of conditions extending from congenital heart disease to acute coronary syndrome most of which are heterogenous in nature and some of them are multiple genetic loci. However, the pathogenesis of most CVDs remains incompletely understood. The advance in genome-editing technologies, an engineering process of DNA sequences at precise genomic locations, has enabled a new paradigm that human genome can be precisely modified to achieve a therapeutic effect. Genome-editing includes the correction of genetic variants that cause disease, the addition of therapeutic genes to specific sites in the genomic locations, and the removal of deleterious genes or genome sequences...
August 4, 2017: Current Cardiology Reviews
https://www.readbyqxmd.com/read/28779863/neurological-complications-of-cardiac-disease
#4
Nandini Madan, Karen S Carvalho
This article focuses on the complex interactions between the cardiovascular and neurologic systems. Initially, we focus on neurological complications in children with congenital heart disease both secondary to the underlying cardiac disease and complications of interventions. We later discuss diagnosis and management of common syncope syndromes with emphasis on vasovagal syncope. We also review the diagnosis, classification, and management of children and adolescents with postural orthostatic tachycardia syndrome...
February 2017: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28777859/-delineating-a-case-with-a-complex-karyotype-by-using-combined-genetic-techniques
#5
Ning Han, Lu Kuang, Bing Zhu, Liang Hua, Wanling Li
OBJECTIVE: To explore the pathogenesis of a child with growth retardation, liver damage and congenital heart disease. METHODS: G-banded chromosomal karyotyping, high-throughput next-generation sequencing (HT-NGS)and fluorescence in situ hybridization(FISH) were used to characterize the structural chromosomal aberration. RESULTS: The child was found to have a karyotype of 46, XX, t(1;2) (q25;q21), t(7;20) (q21;p13). HT-NGS has detected a microdeletion at 2q21...
August 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28777848/-phenotypic-and-genetic-analysis-of-four-patients-with-13q33-q34-microdeletion
#6
Huanhuan Wang, Bing Xiao, Xing Ji, Jingmin Zhang, Ying Cao, Lin Ni, Hui Ye, Lixiao Shen
OBJECTIVE: To explore the correlation between 13q33-q34 microdeletion and clinical phenotype. METHODS: Routine chromosomal banding was performed to analyze the karyotype, while array-based comparative genomic hybridization (aCGH array) and single nucleotide polymorphism array(SNP array) were employed to investigate the genome copy number variations. RESULTS: The karyotype of patient 1 was 46, XY, 9qh+,13qs. Patient 2 showed 46, XX, der (13)...
August 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28753627/nuclear-cytoplasmic-transport-defects-in-bbs6-underlie-congenital-heart-disease-through-perturbation-of-a-chromatin-remodeling-protein
#7
Charles Anthony Scott, Autumn N Marsden, Michael R Rebagliati, Qihong Zhang, Xitiz Chamling, Charles C Searby, Lisa M Baye, Val C Sheffield, Diane C Slusarski
Mutations in BBS6 cause two clinically distinct syndromes, Bardet-Biedl syndrome (BBS), a syndrome caused by defects in cilia transport and function, as well as McKusick-Kaufman syndrome, a genetic disorder characterized by congenital heart defects. Congenital heart defects are rare in BBS, and McKusick-Kaufman syndrome patients do not develop retinitis pigmentosa. Therefore, the McKusick-Kaufman syndrome allele may highlight cellular functions of BBS6 distinct from the presently understood functions in the cilia...
July 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28745539/congenital-heart-disease-and-genetic-syndromes-new-insights-into-molecular-mechanisms
#8
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/28739807/organisation-of-care-for-pregnancy-in-patients-with-congenital-heart-disease
#9
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/28736822/congenital-heart-disease-and-cardiac-procedural-outcomes-in-patients-with-trisomy-21-and-turner-syndrome
#10
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/28726068/cardiac-complications-of-congenital-disorders-of-glycosylation-cdg-a-systematic-review-of-the-literature
#11
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/28725922/genetic-testing-protocol-reduces-costs-and-increases-rate-of-genetic-diagnosis-in-infants-with-congenital-heart-disease
#12
Gabrielle C Geddes, Donald Basel, Peter Frommelt, Aaron Kinney, Michael Earing
Genetic testing is routinely performed on infants with critical congenital heart disease (CHD). This project reviewed the effect of implementing a genetic testing protocol in this population. Charts of infants with critical CHD were reviewed for genetic testing and results across two time periods: the time before implementation of a genetic testing protocol (pre-protocol) and the time after implementation (post-protocol). The use of karyotype, 22q11.2 Deletion testing, and chromosomal microarray were compared across these two time periods...
July 19, 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/28719389/genetic-contribution-to-neurodevelopmental-outcomes-in-congenital-heart-disease-are-some-patients-predetermined-to-have-developmental-delay
#13
Caitlin K Rollins, Jane W Newburger, Amy E Roberts
PURPOSE OF REVIEW: Neurodevelopmental impairment is common in children with moderate to severe congenital heart disease (CHD). As children live longer and healthier lives, research has focused on identifying causes of neurodevelopmental morbidity that significantly impact long-term quality of life. This review will address the role of genetic factors in predicting neurodevelopmental outcome in CHD. RECENT FINDINGS: A robust literature suggests that among children with various forms of CHD, those with known genetic/extracardiac anomalies are at highest risk of neurodevelopmental impairment...
July 14, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28709660/effect-of-gastrointestinal-malformations-on-the-outcomes-of-patients-with-congenital-heart-disease
#14
Carlos M Mery, Luis E De León, J Rubén Rodriguez, R Michael Nieto, Wei Zhang, Iki Adachi, Jeffrey S Heinle, Lauren C Kane, E Dean McKenzie, Charles D Fraser
BACKGROUND: The goal of this study was to assess the effect of associated gastrointestinal malformations (GI) on the outcomes of patients undergoing congenital heart operations. METHODS: Neonates and infants with thoracic (esophageal atresia, tracheoesophageal fistula) and abdominal (duodenal stenosis/atresia, imperforate anus, Hirschsprung disease) GI malformations undergoing congenital heart operations between 1995 and 2015 were included. Two control groups were created, one for each group...
July 11, 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28709631/neurodevelopmental-profiles-of-children-with-congenital-heart-disease-at-school-age
#15
Nadja Naef, Rabia Liamlahi, Ingrid Beck, Vera Bernet, Hitendu Dave, Walter Knirsch, Beatrice Latal
OBJECTIVES: To assess 6-year neurodevelopmental outcomes in a current cohort of children with congenital heart disease (CHD) who underwent cardiopulmonary bypass surgery (CPB), and to determine risk factors for adverse outcomes. STUDY DESIGN: Outcomes were examined in 233 prospectively enrolled children with CHD (including 64 with a recognized genetic disorder) who underwent CPB between 2004 and 2009. Follow-up assessment included standardized neurologic, motor, and cognitive tests...
July 11, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28706735/the-importance-of-copy-number-variation-in-congenital-heart-disease
#16
Gregory Costain, Candice K Silversides, Anne S Bassett
Congenital heart disease (CHD) is the most common class of major malformations in humans. The historical association with large chromosomal abnormalities foreshadowed the role of submicroscopic rare copy number variations (CNVs) as important genetic causes of CHD. Recent studies have provided robust evidence for these structural variants as genome-wide contributors to all forms of CHD, including CHD that appears isolated without extra-cardiac features. Overall, a CNV-related molecular diagnosis can be made in up to one in eight patients with CHD...
September 14, 2016: NPJ Genomic Medicine
https://www.readbyqxmd.com/read/28705803/clinical-practice-guidelines-for-the-care-of-girls-and-women-with-turner-syndrome-proceedings-from-the-2016-cincinnati-international-turner-syndrome-meeting
#17
Claus H Gravholt, Niels H Andersen, Gerard S Conway, Olaf M Dekkers, Mitchell E Geffner, Karen O Klein, Angela E Lin, Nelly Mauras, Charmian A Quigley, Karen Rubin, David E Sandberg, Theo C J Sas, Michael Silberbach, Viveca Söderström-Anttila, Kirstine Stochholm, Janielle A van Alfen-van derVelden, Joachim Woelfle, Philippe F Backeljauw
Turner syndrome affects 25-50 per 100,000 females and can involve multiple organs through all stages of life, necessitating multidisciplinary approach to care. Previous guidelines have highlighted this, but numerous important advances have been noted recently. These advances cover all specialty fields involved in the care of girls and women with TS. This paper is based on an international effort that started with exploratory meetings in 2014 in both Europe and the USA, and culminated with a Consensus Meeting held in Cincinnati, Ohio, USA in July 2016...
September 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28702146/are-polymorphisms-in-mtrr-a66g-and-mthfr-c677t-genes-associated-with-congenital-heart-diseases-in-iranian-population
#18
Noormohammad Noori, Ebrahim Miri-Moghaddam, Asieh Dejkam, Yasman Garmie, Ali Bazi
BACKGROUND: The 5, 10-methyleneterahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) are two essential enzymes involved in folate metabolism. The relationship between genetic polymorphisms and congenital heart defects (CHDs) is inconsistent. Our aim was to investigate the association between two well-known polymorphisms of MTHFR and MTRR genes, C677T and A66G, respectively, and CHDs in Iranian patients. METHODS: We enrolled 74 patients with ventricular septal defect (VSD) and 79 with tetralogy of fallot (TOF) along with 147 healthy controls...
2017: Caspian Journal of Internal Medicine
https://www.readbyqxmd.com/read/28687876/chromosome-21-encoded-micrornas-mrnas-impact-on-down-s-syndrome-and-trisomy-21-linked-disease
#19
P N Alexandrov, M E Percy, Walter J Lukiw
Down's syndrome (DS; also known as trisomy 21; T21) is caused by a triplication of all or part of human chromosome 21 (chr21). DS is the most common genetic cause of intellectual disability attributable to a naturally-occurring imbalance in gene dosage. DS incurs huge medical, healthcare, and socioeconomic costs, and there are as yet no effective treatments for this incapacitating human neurogenetic disorder. There is a remarkably wide variability in the 'phenotypic spectrum' associated with DS; the progression of symptoms and the age of DS onset fluctuate, and there is further variability in the biophysical nature of the chr21 duplication...
July 7, 2017: Cellular and Molecular Neurobiology
https://www.readbyqxmd.com/read/28677747/mesp1-loss%C3%A2-of%C3%A2-function-mutation-contributes-to-double-outlet-right-ventricle
#20
Min Zhang, Fu-Xing Li, Xing-Yuan Liu, Ri-Tai Huang, Song Xue, Xiao-Xiao Yang, Yan-Jie Li, Hua Liu, Hong-Yu Shi, Xin Pan, Xing-Biao Qiu, Yi-Qing Yang
Congenital heart disease (CHD) is the most common form of birth defect in humans, and remains a leading non‑infectious cause of infant mortality worldwide. An increasing number of studies have demonstrated that genetic defects serve a pivotal role in the pathogenesis of CHD, and mutations in >60 genes have been causally associated with CHD. CHD is a heterogeneous disease and the genetic basis of CHD in the majority of patients remains poorly understood. In the present study, the coding exons and flanking introns of the mesoderm posterior 1 (MESP1) gene, which encodes a basic helix‑loop‑helix transcription factor required for normal cardiovascular development, were sequenced in 178 unrelated patients with CHD...
September 2017: Molecular Medicine Reports
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