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Congenital heart genetics

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https://www.readbyqxmd.com/read/29774522/genome-wide-compound-heterozygosity-analysis-highlighted-four-novel-susceptibility-loci-for-congenital-heart-disease-in-chinese-population
#1
T Jiang, M Huang, T Jiang, Y Gu, Y Wang, Y Wu, H Ma, G Jin, J Dai, Z Hu
Genome-wide association studies (GWASs) have achieved great success in deciphering the genetic cause of congenital heart disease (CHD). However, the heritability of CHD remains to be clarified, and numerous genetic factors responsible for occurrence of CHD are yet unclear. In this study, we performed a genome-wide search for relaxed forms of compound heterozygosity (CH) in association with CHD using our existing GWAS data including 2,265 individuals (957 CHD cases and 1,308 controls). CollapsABEL was used to iteratively test the association between the CH genotype and CHD phenotype in a sliding window manner...
May 17, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29772208/influence-of-blood-flow-on-cardiac-development
#2
REVIEW
Katherine Courchaine, Graham Rykiel, Sandra Rugonyi
The role of hemodynamics in cardiovascular development is not well understood. Indeed, it would be remarkable if it were, given the dauntingly complex array of intricately synchronized genetic, molecular, mechanical, and environmental factors at play. However, with congenital heart defects affecting around 1 in 100 human births, and numerous studies pointing to hemodynamics as a factor in cardiovascular morphogenesis, this is not an area in which we can afford to remain in the dark. This review seeks to present the case for the importance of research into the biomechanics of the developing cardiovascular system...
May 14, 2018: Progress in Biophysics and Molecular Biology
https://www.readbyqxmd.com/read/29762087/genomics-and-epigenomics-of-congenital-heart-defects-expert-review-and-lessons-learned-in-africa
#3
Nicholas Ekow Thomford, Kevin Dzobo, Nana Akyaa Yao, Emile Chimusa, Jonathan Evans, Emmanuel Okai, Paul Kruszka, Maximilian Muenke, Gordon Awandare, Ambroise Wonkam, Collet Dandara
Congenital heart defects (CHD) are structural malformations found at birth with a prevalence of 1%. The clinical trajectory of CHD is highly variable and thus in need of robust diagnostics and therapeutics. Major surgical interventions are often required for most CHDs. In Africa, despite advances in life sciences infrastructure and improving education of medical scholars, the limited clinical data suggest that CHD detection and correction are still not at par with the rest of the world. But the toll and genetics of CHDs in Africa has seldom been systematically investigated...
May 2018: Omics: a Journal of Integrative Biology
https://www.readbyqxmd.com/read/29761130/spinal-muscular-atrophy-with-respiratory-distress-type-1-a-child-with-atypical-presentation
#4
Annie Ting Gee Chiu, Sophelia Hoi Shan Chan, Shun Ping Wu, Shun Hin Ting, Brian Hon Yin Chung, Angel On Kei Chan, Virginia Chun Nei Wong
The authors report a child with spinal muscular atrophy with respiratory distress type 1 (SMARD1). She presented atypically with hypothyroidism and heart failure due to septal defects that required early heart surgery and microcephaly in association with cerebral atrophy and thin corpus collosum. The subsequent asymmetrical onset of diaphragmatic paralysis, persistent hypotonia, and generalized muscle weakness led to the suspicion of spinal muscular atrophy with respiratory distress type 1. Sanger sequencing confirmed a compound heterozygous mutation in the Immunoglobulin Mu Binding Protein 2 (IGHMBP2) gene, with a known mutation c...
2018: Child Neurology Open
https://www.readbyqxmd.com/read/29754124/predictors-of-postoperative-rehabilitation-therapy-following-congenital-heart-surgery
#5
Ana Ubeda Tikkanen, Meena Nathan, Lynn A Sleeper, Marisa Flavin, Ana Lewis, Donna Nimec, John E Mayer, Pedro Del Nido
BACKGROUND: Patients with congenital heart disease are at risk of motor, cognitive, speech, and feeding difficulties after cardiac surgery. Rehabilitation therapy could improve functional outcomes in this population if applied in the acute postcardiac surgical in-hospital stay. However, information on the types of acute postcardiac surgery therapy needs in children is scarce. Our goal was to describe rehabilitation therapy following congenital heart surgery and pre/intraoperative factors associated with need for therapy...
May 12, 2018: Journal of the American Heart Association
https://www.readbyqxmd.com/read/29753820/association-of-pre-operative-cell-counts-with-outcomes-after-surgery-for-congenital-heart-disease
#6
Shannon Jones, Courtney McCracken, Bahaaldin Alsoufi, William T Mahle, Matthew E Oster
BACKGROUND: We examined the association of pre-operative cell count abnormalities, which have been shown to be associated with outcomes in adult cardiac patients, with morbidity and mortality following surgery for congenital heart disease (CHD) in children. METHODS: We performed a retrospective cohort study on 4865 children undergoing cardiac surgery from 2004- 2014. Our exposures of interest were presence of pre-operative lymphopenia (lymphocyte count ≤ 3000 cells/μL), thrombocytopenia (platelet count < 150 x103 / μL), and neutrophilia (neutrophil count ≥ 7000 cells/ μL)...
May 10, 2018: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/29753092/sex-differences-for-major-congenital-heart-defects-in-down-syndrome-a-population-based-study
#7
Michele Santoro, Alessio Coi, Isabella Spadoni, Fabrizio Bianchi, Anna Pierini
BACKGROUND: Down syndrome (DS) is the most common autosomal chromosomal anomaly in liveborn infants. About 40% of infants with DS have a major congenital heart defect (CHD). Among them, atrioventricular septal defects (AVSD), atrial septal defects (ASD), ventricular septal defect (VSD) and Tetralogy of Fallot (ToF) are the most common. The aim of this study was to estimate the sex difference in the occurrence of CHD in infants with DS comparing it with non-DS infants. METHOD: Live birth cases of DS diagnosed by the first year of life were extracted from the Registry of Congenital Anomalies of Tuscany (2003-2015 period)...
May 9, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29751595/optical-electrophysiology-in-the-developing-heart
#8
REVIEW
Kandace Thomas, Julie Goudy, Trevor Henley, Michael Bressan
The heart is the first organ system to form in the embryo. Over the course of development, cardiomyocytes with differing morphogenetic, molecular, and physiological characteristics are specified and differentiate and integrate with one another to assemble a coordinated electromechanical pumping system that can function independently of any external stimulus. As congenital malformation of the heart presents the leading class of birth defects seen in humans, the molecular genetics of heart development have garnered much attention over the last half century...
May 11, 2018: Journal of Cardiovascular Development and Disease
https://www.readbyqxmd.com/read/29740699/de-novo-mutations-in-med13-a-component-of-the-mediator-complex-are-associated-with-a-novel-neurodevelopmental-disorder
#9
Lot Snijders Blok, Susan M Hiatt, Kevin M Bowling, Jeremy W Prokop, Krysta L Engel, J Nicholas Cochran, E Martina Bebin, Emilia K Bijlsma, Claudia A L Ruivenkamp, Paulien Terhal, Marleen E H Simon, Rosemarie Smith, Jane A Hurst, Heather McLaughlin, Richard Person, Amy Crunk, Michael F Wangler, Haley Streff, Joseph D Symonds, Sameer M Zuberi, Katherine S Elliott, Victoria R Sanders, Abigail Masunga, Robert J Hopkin, Holly A Dubbs, Xilma R Ortiz-Gonzalez, Rolph Pfundt, Han G Brunner, Simon E Fisher, Tjitske Kleefstra, Gregory M Cooper
Many genetic causes of developmental delay and/or intellectual disability (DD/ID) are extremely rare, and robust discovery of these requires both large-scale DNA sequencing and data sharing. Here we describe a GeneMatcher collaboration which led to a cohort of 13 affected individuals harboring protein-altering variants, 11 of which are de novo, in MED13; the only inherited variant was transmitted to an affected child from an affected mother. All patients had intellectual disability and/or developmental delays, including speech delays or disorders...
May 8, 2018: Human Genetics
https://www.readbyqxmd.com/read/29740591/postnatal-and-adult-aortic-heart-valves-have-distinctive-transcriptional-profiles-associated-with-valve-tissue-growth-and-maintenance-respectively
#10
Emily Nordquist, Stephanie LaHaye, Casey Nagel, Joy Lincoln
Heart valves are organized connective tissues of high mechanical demand. They open and close over 100,000 times a day to preserve unidirectional blood flow by maintaining structure-function relationships throughout life. In affected individuals, structural failure compromises function and often leads to regurgitant blood flow and progressive heart failure. This is most common in degenerative valve disease due to age-related wear and tear, or congenital malformations. At present, the only effective treatment of valve disease is surgical repair or replacement and this is often impermanent and requires anti-coagulation therapy throughout life...
2018: Frontiers in Cardiovascular Medicine
https://www.readbyqxmd.com/read/29739726/new-onset-seizures-in-a-patient-with-long-qt-syndrome-lqts2-and-a-pathogenic-carboxyl-terminus-frameshift-variant-of-the-kcnh2-gene
#11
Katherine Zarroli, Henry Querfurth
In patients with Long QT Syndrome (LQTS), mutations in the potassium channel KCNH2 gene increase seizure susceptibility with missense mutations involving the pore region of the gene acting as a positive predictor of seizures. Seizures are less commonly reported in patients with carboxyl (C')-terminus mutations. This case report describes a young man who presented with syncope followed by a first seizure and was found to have LQTS caused by a pathogenic carboxyl-terminus deletion/frameshifting mutation of the KCNH2 gene...
May 5, 2018: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/29725858/zebrafish-heart-failure-models-opportunities-and-challenges
#12
REVIEW
Xingjuan Shi, Ru Chen, Yu Zhang, Junghwa Yun, Koroboshka Brand-Arzamendi, Xiangdong Liu, Xiao-Yan Wen
Heart failure is a complex pathophysiological syndrome of pumping functional failure that results from injury, infection or toxin-induced damage on the myocardium, as well as genetic influence. Gene mutations associated with cardiomyopathies can lead to various pathologies of heart failure. In recent years, zebrafish, Danio rerio, has emerged as an excellent model to study human cardiovascular diseases such as congenital heart defects, cardiomyopathy, and preclinical development of drugs targeting these diseases...
May 3, 2018: Amino Acids
https://www.readbyqxmd.com/read/29724491/clinical-presentation-of-a-complex-neurodevelopmental-disorder-caused-by-mutations-in-adnp
#13
Anke Van Dijck, Anneke T Vulto-van Silfhout, Elisa Cappuyns, Ilse M van der Werf, Grazia M Mancini, Andreas Tzschach, Raphael Bernier, Illana Gozes, Evan E Eichler, Corrado Romano, Anna Lindstrand, Ann Nordgren, Malin Kvarnung, Tjitske Kleefstra, Bert B A de Vries, Sébastien Küry, Jill A Rosenfeld, Marije E Meuwissen, Geert Vandeweyer, R Frank Kooy
BACKGROUND: In genome-wide screening studies for de novo mutations underlying autism and intellectual disability, mutations in the ADNP gene are consistently reported among the most frequent. ADNP mutations have been identified in children with autism spectrum disorder comorbid with intellectual disability, distinctive facial features, and deficits in multiple organ systems. However, a comprehensive clinical description of the Helsmoortel-Van der Aa syndrome is lacking. METHODS: We identified a worldwide cohort of 78 individuals with likely disruptive mutations in ADNP from January 2014 to October 2016 through systematic literature search, by contacting collaborators, and through direct interaction with parents...
March 15, 2018: Biological Psychiatry
https://www.readbyqxmd.com/read/29724030/some-isolated-cardiac-malformations-can-be-related-to-laterality-defects
#14
REVIEW
Paolo Versacci, Flaminia Pugnaloni, Maria Cristina Digilio, Carolina Putotto, Marta Unolt, Giulio Calcagni, Anwar Baban, Bruno Marino
Human beings are characterized by a left⁻right asymmetric arrangement of their internal organs, and the heart is the first organ to break symmetry in the developing embryo. Aberrations in normal left⁻right axis determination during embryogenesis lead to a wide spectrum of abnormal internal laterality phenotypes, including situs inversus and heterotaxy . In more than 90% of instances, the latter condition is accompanied by complex and severe cardiovascular malformations. Atrioventricular canal defect and transposition of the great arteries&mdash;which are particularly frequent in the setting of heterotaxy &mdash;are commonly found in situs solitus with or without genetic syndromes...
May 2, 2018: Journal of Cardiovascular Development and Disease
https://www.readbyqxmd.com/read/29722020/atrioventricular-canal-defect-and-genetic-syndromes-the-unifying-role-of-sonic-hedgehog
#15
REVIEW
M C Digilio, F Pugnaloni, A De Luca, G Calcagni, A Baban, M L Dentici, P Versacci, B Dallapiccola, M Tartaglia, B Marino
The atrioventricular canal defect (AVCD) is a congenital heart defect (CHD) frequently associated with extracardiac anomalies (75%). Previous observations from a personal series of patients with AVCD and "polydactyly syndromes" demonstrated that the distinct morphology and combination of AVCD features in some of these syndromes is reminiscent of the cardiac phenotype found in heterotaxy, a malformation complex previously associated with functional cilia abnormalities and aberrant Hedgehog (Hh) signaling...
May 3, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29720615/characterizing-the-role-of-atrial-natriuretic-peptide-signaling-in-the-development-of-embryonic-ventricular-conduction-system
#16
Arun Govindapillai, Adam Hotchkiss, Mark Baguma-Nibasheka, Robert A Rose, Lucile Miquerol, Oliver Smithies, Nobuyo Maeda, Kishore B S Pasumarthi
Patients born with congenital heart defects frequently encounter arrhythmias due to defects in the ventricular conduction system (VCS) development. Although recent studies identified transcriptional networks essential for the heart development, there is scant information on the mechanisms regulating VCS development. Based on the association of atrial natriuretic peptide (ANP) expression with VCS forming regions, it was reasoned that ANP could play a critical role in differentiation of cardiac progenitor cells (CPCs) and cardiomyocytes (CMs) toward a VCS cell lineage...
May 2, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29720395/pulmonary-arterial-hypertension-in-adult-congenital-heart-disease
#17
REVIEW
Margarita Brida, Michael A Gatzoulis
Pulmonary arterial hypertension (PAH) is commonly associated with congenital heart disease (CHD) and relates to type of the underlying cardiac defects and repair history. Large systemic to pulmonary shunts may develop PAH if untreated or repaired late. PAH, when present, markedly increases morbidity and mortality in patients with CHD. Significant progress has been made for patients with Eisenmenger syndrome in pathophysiology, prognostication and disease-targeting therapy (DTT), which needs to be applied to routine patient care...
May 2, 2018: Heart: Official Journal of the British Cardiac Society
https://www.readbyqxmd.com/read/29704315/epigenetics-and-autism-spectrum-disorder-a-report-of-an-autism-case-with-mutation-in-h1-linker-histone-hist1h1e-and-literature-review
#18
Lara J Duffney, Purnima Valdez, Martine W Tremblay, Xinyu Cao, Sarah Montgomery, Allyn McConkie-Rosell, Yong-Hui Jiang
Genetic mutations in genes encoding proteins involved in epigenetic machinery have been reported in individuals with autism spectrum disorder (ASD), intellectual disability, congenital heart disease, and other disorders. H1 histone linker protein, the basic component in nucleosome packaging and chromatin organization, has not been implicated in human disease until recently. We report a de novo deleterious mutation of histone cluster 1 H1 family member e (HIST1H1E; c.435dupC; p.Thr146Hisfs*50), encoding H1 histone linker protein H1...
April 27, 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/29704308/a-sibling-pair-with-cardiofaciocutaneous-syndrome-cfc-secondary-to-braf-mutation-with-unaffected-parents-the-first-cases-of-gonadal-mosaicism-in-cfc
#19
Sarah Geoghegan, Graham King, Jennifer Henchliffe, Simon C Ramsden, Raymond J Barry, Andrew J Green, Susan M O'Connell
Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by intellectual disability, congenital heart defects, a characteristic facial appearance, gastro-intestinal complications, ectodermal abnormalities and growth failure. The RASopathies result from germline mutations in the Ras/Mitogen-activated-protein-kinase (MAPK) pathway. CFC is associated with mutations in BRAF, KRAS, MEK1 and MEK2. CFC has been considered a "sporadic" disorder, with minimal recurrence risk to siblings. In recent years, vertical transmission of CFC has been seen in mutations involving the MEK2 and KRAS genes, but has not previously been reported with BRAF mutations...
April 28, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29702557/cdg-therapies-from-bench-to-bedside
#20
REVIEW
Sandra Brasil, Carlota Pascoal, Rita Francisco, Dorinda Marques-da-Silva, Giuseppina Andreotti, Paula A Videira, Eva Morava, Jaak Jaeken, Vanessa Dos Reis Ferreira
Congenital disorders of glycosylation (CDG) are a group of genetic disorders that affect protein and lipid glycosylation and glycosylphosphatidylinositol synthesis. More than 100 different disorders have been reported and the number is rapidly increasing. Since glycosylation is an essential post-translational process, patients present a large range of symptoms and variable phenotypes, from very mild to extremely severe. Only for few CDG, potentially curative therapies are being used, including dietary supplementation (e...
April 27, 2018: International Journal of Molecular Sciences
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