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Congenital heart genetics

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https://www.readbyqxmd.com/read/29351346/the-congenital-heart-disease-genetic-network-study-cohort-description
#1
Thanh T Hoang, Elizabeth Goldmuntz, Amy E Roberts, Wendy K Chung, Jennie K Kline, John E Deanfield, Alessandro Giardini, Adolfo Aleman, Bruce D Gelb, Meghan Mac Neal, George A Porter, Richard Kim, Martina Brueckner, Richard P Lifton, Sharon Edman, Stacy Woyciechowski, Laura E Mitchell, A J Agopian
The Pediatric Cardiac Genomics Consortium (PCGC) designed the Congenital Heart Disease Genetic Network Study to provide phenotype and genotype data for a large congenital heart defects (CHDs) cohort. This article describes the PCGC cohort, overall and by major types of CHDs (e.g., conotruncal defects) and subtypes of conotrucal heart defects (e.g., tetralogy of Fallot) and left ventricular outflow tract obstructions (e.g., hypoplastic left heart syndrome). Cases with CHDs were recruited through ten sites, 2010-2014...
2018: PloS One
https://www.readbyqxmd.com/read/29343412/implementing-genome-driven-personalized-cardiology-in-clinical-practice
#2
REVIEW
Ares Pasipoularides
Genomics designates the coordinated investigation of a large number of genes in the context of a biological process or disease. It may be long before we attain comprehensive understanding of the genomics of common complex cardiovascular diseases (CVDs) such as inherited cardiomyopathies, valvular diseases, primary arrhythmogenic conditions, congenital heart syndromes, hypercholesterolemia and atherosclerotic heart disease, hypertensive syndromes, and heart failure with preserved/reduced ejection fraction. Nonetheless, as genomics is evolving rapidly, it is constructive to survey now pertinent concepts and breakthroughs...
January 14, 2018: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/29333839/-pa%C3%A3-ister-kiuian-syndrome-in-a-mexican-mestizo-patient-case-report
#3
Paola Mendelsberg-Fishbein, Constanza García-Delgado, Linda B Muñoz-Martínez, Maura Robledo-Cayetano, Leonardo J Mejía-Marín, Luis E Martínez-Barrera, Mabel Cerrillo-Hinojosa, Verónica F Moran-Barroso
Pallister-Killian syndrome is caused by a tetrasomy 12p mosaicism and is characterized by facial dysmorphism, pigmentary skin anomalies, congenital heart defects, diaphragmatic hernia, epilepsy and mental retardation. The diagnosis is complex as the cytogenetic analysis in blood is usually normal, requiring karyotyping in other tissues, therefore the clinical suspicion is critical to guide the diagnostic tests and the patient requires an interdisciplinary clinical evaluation regarding the several manifestation of the syndrome...
February 1, 2018: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/29332214/targeted-next-generation-sequencing-in-patients-with-non-syndromic-congenital-heart-disease
#4
Silvia Pulignani, Cecilia Vecoli, Andrea Borghini, Ilenia Foffa, Lamia Ait-Alì, Maria Grazia Andreassi
Congenital heart disease (CHD) is a genetically heterogeneous disease. Targeted next-generation sequencing (NGS) offers a unique opportunity to sequence multiple genes at lower cost and effort compared to Sanger sequencing. We tested a targeted NGS of a specific gene panel in a relatively large population of non-syndromic CHD patients. The patient cohort comprised 68 CHD patients (45 males; 8.3 ± 1.7 years). Amplicon libraries for 16 CHD-strictly related genes were generated using a TruSeq® Custom Amplicon kit (Illumina, CA) and sequenced using the Illumina MiSeq platform...
January 13, 2018: Pediatric Cardiology
https://www.readbyqxmd.com/read/29317992/transposition-of-the-great-arteries-a-phenotype-associated-with-16p11-2-duplications
#5
Zarmiga Karunanithi, Else Marie Vestergaard, Mette H Lauridsen
Genetic analyses of patients with transposition of the great arteries have identified rare copy number variations, suggesting that they may be significant to the aetiology of the disease. This paper reports the identification of a 16p11.2 microduplication, a variation that has yet to be reported in association with transposition of the great arteries. The 16p11.2 microduplication is associated with autism spectrum disorder and developmental delay, but with highly variable phenotypic effects. Autism and attention deficit disorders are observed more frequently in children with congenital heart disease than in the general population...
December 26, 2017: World Journal of Cardiology
https://www.readbyqxmd.com/read/29315578/hcn4-pacemaker-channels-attenuate-the-parasympathetic-response-and-stabilize-the-spontaneous-firing-of-sinoatrial-node
#6
Yuko Kozasa, Noriyuki Nakashima, Masayuki Ito, Taisuke Ishikawa, Hiroki Kimoto, Kazuo Ushijima, Naomasa Makita, Makoto Takano
The heart rate is dynamically controlled by the sympathetic and parasympathetic nervous systems that regulate the sinoatrial node (SAN). HCN4 pacemaker channels are well-known causative molecule of congenital sick sinus syndrome. Although HCN4 channels are activated by cAMP, the sympathetic response of SAN was preserved in the patients carrying loss-of-function mutations of HCN4 gene. In order to clarify the contribution of HCN4 channels in the autonomic regulation of SAN, we developed novel gain-of-function mutant mice in which expression level of HCN4 channels could be reversibly changed from zero to ∼3 times of that in wild type mice, using tetracycline trans-activator and tetracycline responsive element...
January 9, 2018: Journal of Physiology
https://www.readbyqxmd.com/read/29311684/a-severely-short-statured-girl-with-47-xx-%C3%A2-%C3%A2-14-46-xx-upd-14-mat-mosaicism
#7
Kikumi Ushijima, Syuichi Yatsuga, Takako Matsumoto, Akie Nakamura, Maki Fukami, Masayo Kagami
The predominant symptoms of trisomy 14 mosaicism are prenatal and postnatal growth failure, ear abnormalities, congenital heart disease, developmental delay, and genitourinary abnormalities. Maternal uniparental disomy of chromosome 14 (upd(14)mat) presents discernible clinical features such as prenatal and postnatal growth failure, hypotonia, precocious puberty, and obesity. Given the small number of previously reported patients with a combination of trisomy 14 mosaicism and upd(14)mat, the detailed clinical features of these patients remain to be elucidated...
January 9, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29306563/yield-rate-of-chromosomal-microarray-analysis-in-fetuses-with-congenital-heart-defects
#8
Sifa Turan, Mehmet Resit Asoglu, Rinat Gabbay Benziv, Lauren Doyle, Christopher Harman, Ozhan M Turan
OBJECTIVE: The purpose of this study was to calculate the yield rates of CMA in fetuses diagnosed with various CHDs in a tertiary center. STUDY DESIGN: This cohort study collected prenatal genetic test results of 145 fetuses diagnosed with CHD. All 145 cases underwent Conventional karyotype (CK), followed by CMA in cases of negative CK result. "Detection rate" of genetic abnormalities was calculated as the percentage of cases with genetic abnormalities identified...
December 12, 2017: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/29302319/the-burden-of-respiratory-syncytial-virus-rsv-associated-acute-lower-respiratory-infections-in-children-with-down-syndrome-a-systematic-review-and-meta-analysis
#9
Markus Chan, John J Park, Ting Shi, Federico Martinón-Torres, Louis Bont, Harish Nair
Background: Acute lower respiratory tract infections (ALRIs) caused by respiratory syncytial virus (RSV) are a leading cause of hospitalization in infants. Numerous risk factors have been identified in the aetiology of severe RSV-associated ALRI necessitating hospitalisation, including prematurity and congenital heart disease. Down syndrome (DS), a common genetic disorder associated with congenital and dysmorphic features, has recently been identified as an independent risk factor for RSV-associated ALRI requiring hospitalisation; however, the disease burden of RSV-associated ALRI in this population has not yet been established...
December 2017: Journal of Global Health
https://www.readbyqxmd.com/read/29301186/clinical-course-of-infants-with-congenital-heart-disease-who-developed-thyroid-dysfunction-within-100-days
#10
Hye Jin Lee, Hyeoh Won Yu, Gi Beom Kim, Choong Ho Shin, Sei Won Yang, Young Ah Lee
PURPOSE: We investigated the clinical course of infants with congenital heart disease (CHD) who experienced thyroid dysfunction within 100 days of birth. METHODS: We performed retrospective medical reviews of 54 CHD patients (24 male patients) who underwent a thyroid function test (TFT) between January 2007 and July 2016. Data were collected on birth history, diagnosis of CHD, underlying chromosomal or genetic abnormalities, medication history, surgery, ventilator care, and exposure to iodine contrast media (ICM)...
December 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29300383/genetic-analysis-of-charge-syndrome-identifies-overlapping-molecular-biology
#11
Amanda Moccia, Anshika Srivastava, Jennifer M Skidmore, John A Bernat, Marsha Wheeler, Jessica X Chong, Deborah Nickerson, Michael Bamshad, Margaret A Hefner, Donna M Martin, Stephanie L Bielas
PurposeCHARGE syndrome is an autosomal-dominant, multiple congenital anomaly condition characterized by vision and hearing loss, congenital heart disease, and malformations of craniofacial and other structures. Pathogenic variants in CHD7, encoding adenosine triphosphate-dependent chromodomain helicase DNA binding protein 7, are present in the majority of affected individuals. However, no causal variant can be found in 5-30% (depending on the cohort) of individuals with a clinical diagnosis of CHARGE syndrome...
January 4, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29298094/a-rare-rs139365823-polymorphism-in-pre-mir-138-is-associated-with-risk-of-congenital-heart-disease-in-a-chinese-population
#12
Xiaobo Gao, Liping Yang, Haiyan Luo, Fengwei Tan, Xu Ma, Cailing Lu
miR-138 modulates cardiac morphogenesis in zebrafish. We explored whether a genetic polymorphism in miR-138 might contribute to the occurrence of sporadic congenital heart disease (CHD) and the potential mechanism. We performed a case-control study consisting of 857 CHD cases and 938 non-CHD controls by genotyping miR-138 in a Chinese population. Two SNPs, including rare rs139365823 located in the pre-miR-138 sequence and rs76987351 located in the pri-miR-138 sequence, were identified by sequencing miR-138...
January 3, 2018: DNA and Cell Biology
https://www.readbyqxmd.com/read/29291004/whole-exome-sequencing-identifies-novel-mutation-in-eight-chinese-children-with-isolated-tetralogy-of-fallot
#13
Lin Liu, Hong-Dan Wang, Cun-Ying Cui, Yun-Yun Qin, Tai-Bing Fan, Bang-Tian Peng, Lian-Zhong Zhang, Cheng-Zeng Wang
Background: Tetralogy of Fallot is the most common cyanotic congenital heart disease. However, its pathogenesis remains to be clarified. The purpose of this study was to identify the genetic variants in Tetralogy of Fallot by whole exome sequencing. Methods: Whole exome sequencing was performed among eight small families with Tetralogy of Fallot. Differential single nucleotide polymorphisms and small InDels were found by alignment within families and between families and then were verified by Sanger sequencing...
December 5, 2017: Oncotarget
https://www.readbyqxmd.com/read/29287191/a-compromised-maternal-vitamin-d-status-is-associated-with-congenital-heart-defects-in-offspring
#14
M P H Koster, L van Duijn, Y H M Krul-Poel, J S Laven, W A Helbing, S Simsek, R P M Steegers-Theunissen
BACKGROUND: Interactions between genetic and environmental factors, including modifiable maternal nutrition and lifestyle, play a significant role in the pathogenesis of most congenital heart defects (CHD). The aim of this study was to investigate associations between periconceptional maternal vitamin D status and the prevalence of CHD in offspring. METHODS: A case-control study was performed in 345 mothers of a child with CHD and 432 mothers of a child without CHD from four tertiary hospitals in the Netherlands between 2003 and 2005...
December 26, 2017: Early Human Development
https://www.readbyqxmd.com/read/29281626/integrated-rare-variant-based-risk-gene-prioritization-in-disease-case-control-sequencing-studies
#15
Jhih-Rong Lin, Quanwei Zhang, Ying Cai, Bernice E Morrow, Zhengdong D Zhang
Rare variants of major effect play an important role in human complex diseases and can be discovered by sequencing-based genome-wide association studies. Here, we introduce an integrated approach that combines the rare variant association test with gene network and phenotype information to identify risk genes implicated by rare variants for human complex diseases. Our data integration method follows a 'discovery-driven' strategy without relying on prior knowledge about the disease and thus maintains the unbiased character of genome-wide association studies...
December 27, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/29280496/silent-aspiration-who-is-at-risk
#16
Priatharisiny Velayutham, Alexandria L Irace, Kosuke Kawai, Pamela Dodrill, Jennifer Perez, Monica Londahl, Lauren Mundy, Natasha D Dombrowski, Reza Rahbar
OBJECTIVE: To determine the prevalence of silent aspiration in pediatric patients and identify which diagnoses may be associated with this finding. METHODS: An institutional review board-approved retrospective review was conducted for all patients under the age of 18 who underwent modified barium swallow (MBS) studies at a tertiary children's hospital in 2015. Speech-language pathologists reviewed MBS studies to identify aspiration/silent aspiration on each fluid consistency tested...
December 27, 2017: Laryngoscope
https://www.readbyqxmd.com/read/29278641/reduction-of-brain-volumes-after-neonatal-cardiopulmonary-bypass-surgery-in-single-ventricle-congenital-heart-disease-prior-to-fontan-completion
#17
Kristina N Mayer, Walter Knirsch, Beatrice Latal, Ianina Scheer, Kristina Wetterling, Andreas Hahn, Hakan Akintürk, Dietmar Schranz, Ingrid Beck, Ruth ÓGorman Tuura, Bettina Reich
BACKGROUND: Little is known about the relationship between brain volumes and neurodevelopmental outcome at two years of age in children with single ventricle congenital heart disease (CHD). We hypothesized that reduced brain volumes may be associated with adverse neurodevelopmental outcome. METHODS: Volumetric segmentation of cerebral MRI scans was done in 44 patients without genetic comorbidities and in eight controls. Neurodevelopmental outcome was assessed with the Bayley-III scales...
August 21, 2017: Pediatric Research
https://www.readbyqxmd.com/read/29276722/validating-candidate-congenital-heart-disease-genes-in-drosophila
#18
Jun-Yi Zhu, Yulong Fu, Adam Richman, Zhe Han
Genomic sequencing efforts can implicate large numbers of genes and de novo mutations as potential disease risk factors. A high throughput in vivo model system to validate candidate gene association with pathology is therefore useful. We present such a system employing Drosophila to validate candidate congenital heart disease (CHD) genes. The protocols exploit comprehensive libraries of UAS-GeneX-RNAi fly strains that when crossed into a 4×Hand-Gal4 genetic background afford highly efficient cardiac-specific knockdown of endogenous fly orthologs of human genes...
June 20, 2017: Bio-protocol
https://www.readbyqxmd.com/read/29258620/refractory-ventricular-fibrillations-after-surgical-repair-of-atrial-septal-defects-in-a-patient-with-cacna1c-gene-mutation-case-report
#19
Ai Kojima, Fumiaki Shikata, Toru Okamura, Takashi Higaki, Seiko Ohno, Minoru Horie, Shunji Uchita, Yujiro Kawanishi, Kenji Namiguchi, Takumi Yasugi, Hironori Izutani
BACKGROUND: Congenital long QT syndrome (LQTS) can cause ventricular arrhythmic events with syncope and sudden death resulting from malignant torsades de pointes (TdP) followed by ventricular fibrillations (VFs). However, the syndrome is often overlooked prior to the development of arrhythmic events in patients with congenital heart diseases demonstrating right bundle branch block on electrocardiogram (ECG). We present a case of an adult patient with congenital heart disease who developed VFs postoperatively, potentially due to his mutation in a LQTS related gene, which was not identified on preoperative assessment due to incomplete evaluation of his family history...
December 19, 2017: Journal of Cardiothoracic Surgery
https://www.readbyqxmd.com/read/29250159/tbx1-loss-of-function-mutation-contributes-to-congenital-conotruncal-defects
#20
Min Zhang, Fu-Xing Li, Xing-Yuan Liu, Jing-Yi Hou, Shi-Hong Ni, Juan Wang, Cui-Mei Zhao, Wei Zhang, Ye Kong, Ri-Tai Huang, Song Xue, Yi-Qing Yang
Conotruncal defects (CTDs) account for ~30% of all types of congenital heart disease and contribute to increased morbidity and mortality rates. Increasing evidence suggests that genetic risk factors are involved in the pathogenesis of CTDs. Mutations in a number of genes, including the TBX1 gene that codes for a T-box transcription factor essential for normal cardiovascular development, may contribute to the development of CTD. CTDs are genetically heterogeneous and the genetic defects responsible for CTDs in the majority of patients remain unknown...
January 2018: Experimental and Therapeutic Medicine
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