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Congenital heart genetics

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https://www.readbyqxmd.com/read/29162281/targeted-next-generation-sequencing-identified-adamts5-as-novel-genetic-substrate-in-patients-with-bicuspid-aortic-valve
#1
Xiaoping Lin, Xianbao Liu, Lihan Wang, Jubo Jiang, Yinghao Sun, Qifeng Zhu, Zexin Chen, Yuxin He, Po Hu, Qiyuan Xu, Feng Gao, Yan Lin, Sanjay Jaiswal, Meixiang Xiang, Jian'an Wang
BACKGROUND: Bicuspid Aortic Valve (BAV) is the most common congenital heart disease, affecting >1% of the general population. Up to date, three genes, NOTCH1, GATA5 and SMAD6, have been linked to the isolated form of BAV. However, potential genetic determinants remain largely unknown in most BAV patients. MATERIAL AND METHODS: Targeted next-generation sequencing of 7 BAV candidate genes (NOTCH1, GATA5, SMAD6, NOS3, ADAMTS5, Alk2 and SMAD2) was performed in 32 BAV patients...
November 14, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/29146485/in-frame-variants-in-flna-proximal-rod-1-domain-associate-with-a-predominant-cardiac-valvular-phenotype
#2
Luis Fernández, Jair Tenorio, Coral Polo-Vaquero, Elena Vallespín, María Palomares-Bralo, Sixto García-Miñaúr, Fernando Santos-Simarro, Pedro Arias, Hernán Carnicer, Silvina Giannivelli, Juan Medina, Rosa Pérez-Piaya, Jorge Solís, Mónica Rodríguez, Alexandra Villagrá, Laura Rodríguez, Julián Nevado, Víctor Martínez-Glez, Karen E Heath, Pablo Lapunzina
INTRODUCTION AND OBJECTIVES: X-linked cardiac valvular dysplasia is a rare form of male-specific congenital heart defect mainly characterized by myxomatous degeneration of the atrioventricular valves with variable hemodynamic consequences. It is caused by genetic defects in FLNA-encoded filamin A, a widely expressed actin-binding protein that regulates cytoskeleton organization. Filamin A loss of function has also been associated with often concurring neurologic and connective tissue manifestations, with mutations in the first half of the Rod 1 domain apparently expressing the full cardiac phenotype...
November 13, 2017: Revista Española de Cardiología
https://www.readbyqxmd.com/read/29141989/analysis-of-copy-number-variants-on-chromosome-21-in-down-syndrome-associated-congenital-heart-defects
#3
Benjamin L Rambo-Martin, Jennifer G Mulle, David J Cutler, Lora J H Bean, Tracie C Rosser, Kenneth J Dooley, Clifford Cua, George Capone, Cheryl L Maslen, Roger H Reeves, Stephanie L Sherman, Michael E Zwick
One in five people with Down syndrome (DS) are born with an atrioventricular septal defect (AVSD), an incidence 2,000 times higher than in the euploid population. The genetic loci that contribute to this risk are poorly understood. In this study, we tested two hypotheses: 1) individuals with DS carrying chromosome 21 copy number variants (CNVs) that interrupt exons may be protected from AVSD, because these CNVs return AVSD susceptibility loci back to disomy, and 2) individuals with DS carrying chromosome 21 genes spanned by microduplications are at greater risk for AVSD because these microduplications boost the dosage of AVSD susceptibility loci beyond a tolerable threshold...
November 15, 2017: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/29137034/uniparental-disomy-and-prenatal-phenotype-two-case-reports-and-review
#4
Xiaofei Li, Yan Liu, Song Yue, Li Wang, Tiejuan Zhang, Cuixia Guo, Wenjie Hu, Karl-Oliver Kagan, Qingqing Wu
RATIONALE: Uniparental disomy (UPD) gives a description of the inheritance of both homologues of a chromosome pair from the same parent. The consequences of UPD depend on the specific chromosome/segment involved and its parental origin. PATIENT CONCERNS: We report prenatal phenotypes of 2 rare cases of UPD. DIAGNOSES: The prenatal phenotype of case 1 included sonographic markers such as enlarged nuchal translucency (NT), absent nasal bone, short femur and humerus length, and several structural malformations involving Dandy-Walker malformation and congenital heart defects...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29133208/homozygous-loss-of-function-brca1-variant-causing-a-fanconi-anemia-like-phenotype-a-clinical-report-and-review-of-previous-patients
#5
Bruna L Freire, Thais K Homma, Mariana F A Funari, Antônio M Lerario, Aline de Medeiros Leal, Elvira D Rodrigues Pereira Velloso, Alexsandra C Malaquias, Alexander A L Jorge
BACKGROUND: Fanconi Anemia (FA) is a rare and heterogeneous genetic syndrome. It is associated with short stature, bone marrow failure, high predisposition to cancer, microcephaly and congenital malformation. Many genes have been associated with FA. Previously, two adult patients with biallelic pathogenic variant in Breast Cancer 1 gene (BRCA1) had been identified in Fanconi Anemia-like condition. CLINICAL REPORT: The proband was a 2.5 year-old girl with severe short stature, microcephaly, neurodevelopmental delay, congenital heart disease and dysmorphic features...
November 10, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29128868/association-of-lpa-variants-with-aortic-stenosis-a-large-scale-study-using-diagnostic-and-procedural-codes-from-electronic-health-records
#6
Hao Yu Chen, Line Dufresne, Hannah Burr, Athithan Ambikkumar, Niko Yasui, Kevin Luk, Dilrini K Ranatunga, Rachel A Whitmer, Mark Lathrop, James C Engert, George Thanassoulis
Importance: Elevated lipoprotein(a) levels are a risk factor for aortic stenosis (AS). However, a large-scale replication of associations between LPA variants and AS, their interactions with risk factors, and the effect of multiple risk alleles is not well established. Objective: To replicate the association between LPA variants with AS and identify subgroups who are at higher risk of developing AS. Design, Setting, and Participants: This case-control study of AS included 44 703 individuals (3469 cases) 55 years or older who were enrolled in the Genetic Epidemiology Research on Aging cohort and who were members of the Kaiser Permanente Northern California health care delivery system...
November 12, 2017: JAMA Cardiology
https://www.readbyqxmd.com/read/29111206/functional-mutant-gata4-identification-and-potential-application-in-preimplantation-diagnosis-of-congenital-heart-diseases
#7
REVIEW
You Yu, Wei Lei, Junjie Yang, Yan-Chang Wei, Zhen-Ling Zhao, Zhen-Ao Zhao, Shijun Hu
Congenital heart diseases (CHDs) affect nearly 1% of all neonates and show an increasing tendency. The complex inheritance patterns and multifactorial etiologies make these defects difficult to be identified before complete manifestation. Genetic screening has identified hundreds of specific mutant sites for CHDs based on cardiac transcriptional factors. GATA4 is a master regulator required for ventral morphogenesis and heart tube formation. Its mutation is most widely studied in CHDs. In the past decades, over 100 GATA4 mutant sites have been reported, but only a few functional sites have been identified...
October 27, 2017: Gene
https://www.readbyqxmd.com/read/29110636/phenotypic-and-genotypic-aspects-of-townes-brock-syndrome-case-report-of-patient-in-southern-brazil-with-a-new-sall1-hotspot-region-nonsense-mutation
#8
Paulo Breno Noronha Liberalesso, Mara L Cordeiro, Simone Carreiro Vieira Karuta, Karyn Regina Jordão Koladicz, Anderson Nitsche, Bianca Simone Zeigelboim, Salmo Raskin, Michael Rauchman
BACKGROUND: Townes-Brocks syndrome (TBS) is a rare autosomal dominant condition characterized by renal, anal, limb, and auditory abnormalities. TBS diagnosis can be challenging in settings where genetic analysis is not readily available. TBS traits overlap with those of Goldenhar and VACTERL syndromes. CASE PRESENTATION: Here, we present the case of a 5-year-old Brazilian boy born with an anorectal abnormality, limb and external ears malformations, genitourinary anomalies, and a congenital heart defect...
November 6, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29106500/familial-co-occurrence-of-congenital-heart-defects-follows-distinct-patterns
#9
Sabrina G Ellesøe, Christopher T Workman, Patrice Bouvagnet, Christopher A Loffredo, Kim L McBride, Robert B Hinton, Klaartje van Engelen, Emma C Gertsen, Barbara J M Mulder, Alex V Postma, Robert H Anderson, Vibeke E Hjortdal, Søren Brunak, Lars A Larsen
Aims: Congenital heart defects (CHD) affect almost 1% of all live born children and the number of adults with CHD is increasing. In families where CHD has occurred previously, estimates of recurrence risk, and the type of recurring malformation are important for counselling and clinical decision-making, but the recurrence patterns in families are poorly understood. We aimed to determine recurrence patterns, by investigating the co-occurrences of CHD in 1163 families with known malformations, comprising 3080 individuals with clinically confirmed diagnosis...
July 2, 2017: European Heart Journal
https://www.readbyqxmd.com/read/29104469/mef2c-loss-of-function-mutation-contributes-to-congenital-heart-defects
#10
Xiao-Hui Qiao, Fei Wang, Xian-Ling Zhang, Ri-Tai Huang, Song Xue, Juan Wang, Xing-Biao Qiu, Xing-Yuan Liu, Yi-Qing Yang
Congenital heart disease (CHD) is the most common type of developmental abnormality in humans, and is a leading cause for substantially increased morbidity and mortality in affected individuals. Increasing studies demonstrates a pivotal role of genetic defects in the pathogenesis of CHD, and presently mutations in more than 60 genes have been associated with CHD. Nevertheless, CHD is of pronounced genetic heterogeneity, and the genetic basis underpinning CHD in a large proportion of patients remains unclear...
2017: International Journal of Medical Sciences
https://www.readbyqxmd.com/read/29100090/exome-wide-association-study-identifies-greb1l-mutations-in-congenital-kidney-malformations
#11
Simone Sanna-Cherchi, Kamal Khan, Rik Westland, Priya Krithivasan, Lorraine Fievet, Hila Milo Rasouly, Iuliana Ionita-Laza, Valentina P Capone, David A Fasel, Krzysztof Kiryluk, Sitharthan Kamalakaran, Monica Bodria, Edgar A Otto, Matthew G Sampson, Christopher E Gillies, Virginia Vega-Warner, Katarina Vukojevic, Igor Pediaditakis, Gabriel S Makar, Adele Mitrotti, Miguel Verbitsky, Jeremiah Martino, Qingxue Liu, Young-Ji Na, Vinicio Goj, Gianluigi Ardissino, Maddalena Gigante, Loreto Gesualdo, Magdalena Janezcko, Marcin Zaniew, Cathy Lee Mendelsohn, Shirlee Shril, Friedhelm Hildebrandt, Joanna A E van Wijk, Adela Arapovic, Marijan Saraga, Landino Allegri, Claudia Izzi, Francesco Scolari, Velibor Tasic, Gian Marco Ghiggeri, Anna Latos-Bielenska, Anna-Materna Kiryluk, Shrikant Mane, David B Goldstein, Richard P Lifton, Nicholas Katsanis, Erica E Davis, Ali G Gharavi
Renal agenesis and hypodysplasia (RHD) are major causes of pediatric chronic kidney disease and are highly genetically heterogeneous. We conducted whole-exome sequencing in 202 case subjects with RHD and identified diagnostic mutations in genes known to be associated with RHD in 7/202 case subjects. In an additional affected individual with RHD and a congenital heart defect, we found a homozygous loss-of-function (LOF) variant in SLIT3, recapitulating phenotypes reported with Slit3 inactivation in the mouse...
November 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29082114/an-interspecies-heart-to-heart-using-xenopus-to-uncover-the-genetic-basis-of-congenital-heart-disease
#12
Alexandra MacColl Garfinkel, Mustafa K Khokha
PURPOSE OF REVIEW: Given the enormous impact congenital heart disease has on child health, it is imperative that we improve our understanding of the disease mechanisms that underlie patient phenotypes and clinical outcomes. This review will outline the merits of using the frog model, Xenopus, as a tool to study human cardiac development and left-right patterning mechanisms associated with congenital heart disease. RECENT FINDINGS: Patient-driven gene discovery continues to provide new insight into the mechanisms of congenital heart disease, and by extension, patient phenotypes and outcomes...
June 2017: Current Pathobiology Reports
https://www.readbyqxmd.com/read/29079892/the-genetic-counselor-in-the-pediatric-arrhythmia-clinic-review-and-assessment-of-services
#13
Benjamin M Helm, Samantha L Freeze, Katherine G Spoonamore, Stephanie M Ware, Mark D Ayers, Adam C Kean
There are minimal data on the impact of genetic counselors in subspecialty clinics, including the pediatric arrhythmia clinic. This study aimed to describe the clinical encounters of a genetic counselor integrated into a pediatric arrhythmia clinic. In the 20 months between July 2015 and February 2017, a total of 1914 scheduled patients were screened for indications relevant for assessment by a genetic counselor. Of these, the genetic counselor completed 276 patient encounters, seeing 14.4% of all patients in clinic...
October 27, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29061637/unique-developmental-trajectories-and-genetic-regulation-of-ventricular-and-outflow-tract-progenitors-in-the-zebrafish-second-heart-field
#14
Noelle Paffett-Lugassy, Natasha Novikov, Spencer Jeffrey, Maryline Abrial, Burcu Guner-Ataman, Srinivasan Sakthivel, Caroline E Burns, C Geoffrey Burns
During mammalian embryogenesis, cardiac progenitor cells constituting the second heart field (SHF) give rise to the right ventricle and primitive outflow tract (OFT), the latter of which is particularly vulnerable to developmental malformations that underlie common congenital heart defects. In zebrafish, SHF progenitors produce half of the single ventricle's myocardium and contribute significantly to the OFT. Previous lineage tracing and mutant analyses suggested that SHF ventricular and OFT progenitors co-migrate to the arterial pole of the zebrafish heart tube soon after their specification in the nkx2...
October 23, 2017: Development
https://www.readbyqxmd.com/read/29057564/the-effect-of-fetal-hemodynamics-on-fetal-growth-in-single-ventricle-and-transposition-of-the-great-arteries
#15
Tarek Alsaied, Stephanie Tseng, Eileen King, Eunice Hahn, Allison Divanovic, Mounira Habli, James Cnota
INTRODUCTION: As birth weight is a critical predictor of neonatal congenital heart defect (CHD) outcomes, the common problem of poor fetal growth in this population is clinically important but not well understood. The impact of fetal hemodynamics on fetal growth and birth weight in CHD has not been assessed. Combined cardiac output (CCO) has been used to evaluate patients with structurally normal heart but rarely in CHD. Middle cerebral artery and umbilical artery pulsatility indices (PIs) have been used to evaluate the relative distribution of circulation in patients with CHD...
October 23, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29056683/dissecting-the-role-of-the-extracellular-matrix-in-heart-disease-lessons-from-the-drosophila-genetic-model
#16
REVIEW
Chris J R Hughes, J Roger Jacobs
The extracellular matrix (ECM) is a dynamic scaffold within organs and tissues that enables cell morphogenesis and provides structural support. Changes in the composition and organisation of the cardiac ECM are required for normal development. Congenital and age-related cardiac diseases can arise from mis-regulation of structural ECM proteins (Collagen, Laminin) or their receptors (Integrin). Key regulators of ECM turnover include matrix metalloproteinases (MMPs) and their inhibitors, tissue inhibitors of matrix metalloproteinases (TIMPs)...
April 24, 2017: Veterinary Sciences
https://www.readbyqxmd.com/read/29056682/mapping-heart-development-in-flies-src42a-acts-non-autonomously-to-promote-heart-tube-formation-in-drosophila
#17
Jessica Vanderploeg, J Roger Jacobs
Congenital heart defects, clinically identified in both small and large animals, are multifactorial and complex. Although heritable factors are known to have a role in cardiovascular disease, the full genetic aetiology remains unclear. Model organism research has proven valuable in providing a deeper understanding of the essential factors in heart development. For example, mouse knock-out studies reveal a role for the Integrin adhesion receptor in cardiac tissue. Recent research in Drosophila melanogaster (the fruit fly), a powerful experimental model, has demonstrated that the link between the extracellular matrix and the cell, mediated by Integrins, is required for multiple aspects of cardiogenesis...
April 24, 2017: Veterinary Sciences
https://www.readbyqxmd.com/read/29046480/epigenetic-mechanisms-underlying-maternal-diabetes-associated-risk-of-congenital-heart-disease
#18
Madhumita Basu, Jun-Yi Zhu, Stephanie LaHaye, Uddalak Majumdar, Kai Jiao, Zhe Han, Vidu Garg
Birth defects are the leading cause of infant mortality, and they are caused by a combination of genetic and environmental factors. Environmental risk factors may contribute to birth defects in genetically susceptible infants by altering critical molecular pathways during embryogenesis, but experimental evidence for gene-environment interactions is limited. Fetal hyperglycemia associated with maternal diabetes results in a 5-fold increased risk of congenital heart disease (CHD), but the molecular basis for this correlation is unknown...
October 19, 2017: JCI Insight
https://www.readbyqxmd.com/read/29045289/genetic-origins-of-tetralogy-of-fallot
#19
Ari Morgenthau, William H Frishman
Due to improved survival and clinical outcomes, congenital heart disease is an area of growing importance within the medical community. As these patients reach adulthood and have children, there has been a growing appreciation for the increased risk of CHD among their offspring, strongly implying a genetic element. Given the growing wealth of genetic data available and these clinical implications, this review serves to re-examine the role of genetics within CHD, using Tetralogy of Fallot as a model pathology...
October 17, 2017: Cardiology in Review
https://www.readbyqxmd.com/read/29045069/association-of-natural-killer-cell-ligand-polymorphism-hla-c-asn80lys-with-the-development-of-anti-ssa-ro-associated-congenital-heart-block
#20
Hannah C Ainsworth, Miranda C Marion, Tiziana Bertero, Antonio Brucato, Rolando Cimaz, Nathalie Costedoat-Chalumeau, Micaela Fredi, Patrick Gaffney, Jennifer Kelly, Kateri Levesque, Alice Maltret, Nathalie Morel, Veronique Ramoni, Amelia Ruffatti, Carl D Langefeld, Jill P Buyon, Robert M Clancy
OBJECTIVE: Fetal exposure to maternal anti-SSA/Ro antibodies is necessary but not sufficient for the development of autoimmune congenital heart block (CHB), suggesting that other factors, such as fetal genetic predisposition, are important. Given the previously described association between major histocompatibility complex alleles and CHB risk, we undertook the present study to test the hypothesis that a variant form of HLA-C Asn80Lys, which binds with high affinity to an inhibitory killer cell immunoglobulin-like receptor (KIR) and thus renders natural killer (NK) cells incapable of restricting inflammation, contributes to the development of CHB...
November 2017: Arthritis & Rheumatology
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