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Congenital heart genetics

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https://www.readbyqxmd.com/read/28077469/risk-factors-for-excess-mortality-in-adults-with-congenital-heart-diseases
#1
Jose Maria Oliver, Pastora Gallego, Ana Elvira Gonzalez, Diego Garcia-Hamilton, Pablo Avila, Raquel Yotti, Ignacio Ferreira, Francisco Fernandez-Aviles
AIMS: To examine factors related to excess mortality in a cohort of adults with congenital heart disease (CHD). METHODS AND RESULTS: We conducted a survival analysis using prospective data of 3311 adults with CHD [50.5% males, median age at entry 22.5 years (IQR 18-39), median follow-up time 10.5 years (IQR: 4.4-18)]. Survival status of each patient was further verified by cross checking with the Spanish National Death Index. During a total follow-up of 37608 person-years, 336 (10%) patients died...
January 10, 2017: European Heart Journal
https://www.readbyqxmd.com/read/28075445/a-clinical-and-molecular-analysis-of-a-patient-with-emanuel-syndrome
#2
Jin-Wen Luo, Huan Yang, Zhi-Ping Tan, Ming Tu, Hong Luo, Yi-Feng Yang, Li Xie
Emanuel syndrome (ES) is the most frequent type of recurrent non‑Robertsonian translocation that is characterized by numerous anomalies. Over 100 patients with ES have been described in the literature. The phenotype of this syndrome varies but often consists of facial dysmorphism, microcephaly, severe intellectual disability, developmental retardation, congenital heart disease and genital anomalies. The present study describes a 2‑year‑old boy with multiple malformations, including facial dysmorphism, severe intellectual disability, growth retardation, congenital heart disease, cleft lip and palate, genital malformation (micropenis), amblyopia, thymic dysplasia and hearing impairment...
January 5, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28062416/blood-flow-patterns-underlie-developmental-heart-defects
#3
Madeline Midgett, Kent L Thornburg, Sandra Rugonyi
Although cardiac malformations at birth are typically associated with genetic anomalies, blood flow dynamics also play a crucial role in heart formation. However, the relationship between blood flow patterns in the early embryo and later cardiovascular malformation has not been determined. We used the chicken embryo model to quantify the extent to which anomalous blood flow patterns predict cardiac defects that resemble those in humans, and found that restricting either the inflow to the heart or the outflow led to reproducible abnormalities with a dose-response type relationship between blood flow stimuli and the expression of cardiac phenotypes...
January 6, 2017: American Journal of Physiology. Heart and Circulatory Physiology
https://www.readbyqxmd.com/read/28061423/correlation-between-fetal-autopsy-and-prenatal-diagnosis-by-ultrasound-a-systematic-review
#4
REVIEW
A Cristina Rossi, Federico Prefumo
: The objective of this study was to review literature about the correlation between fetal autopsy and ultrasound findings of fetal malformations. Search in PubMed, Medline, EMBASE, Clinicl trials.org, reference list was performed. Inclusion criteria for studies selection were: fetal autopsy performed after termination of pregnancy (TOP) or stillbirth, TOP for fetal anomalies, prenatal diagnosis of malformations, data reported as proportional rates. EXCLUSION CRITERIA: case reports, non English language, data reported in graphs or percentage...
December 29, 2016: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/28059674/coronal-clival-cleft-in-charge-syndrome
#5
Eman Mahdi, Matthew T Whitehead
CHARGE syndrome is a genetic disorder with multi-systemic congenital anomalies, most commonly including coloboma, heart malformations, choanal atresia, developmental delay, and genital and ear anomalies. The diagnostic criteria for CHARGE syndrome has been refined over the years. However, there are limited reports describing skullbase and craniocervical junction abnormalities. These osseous malformations are often under recognized, especially on MRI. We report here a case of CHARGE syndrome with colobomas, cleft lip and palate, patent ductus arteriosus, undescended testes, and a coronal clival cleft which has not been previously depicted in CHARGE syndrome...
January 1, 2017: Neuroradiology Journal
https://www.readbyqxmd.com/read/28040141/prenatal-diagnosis-of-smith-magenis-syndrome-in-two-fetuses-with-increased-nuchal-translucency-mild-lateral-ventriculomegaly-and-congenital-heart-defects
#6
Ting-Ying Lei, Ru Li, Fang Fu, Jun-Hui Wan, Yong-Ling Zhang, Xiang-Yi Jing, Can Liao
OBJECTIVE: Smith-Magenis syndrome (SMS) is a multiple congenital anomalies/mental retardation disorder characterized by an interstitial deletion involving chromosome 17p11.2 containing the retinoic acid-induced 1 (RAI1) gene or due to mutation of RAI1. Few cases have been reported in the medical literature regarding prenatal diagnosis of SMS. We report on the prenatal diagnosis of SMS in two fetuses with increased nuchal translucency (NT), mild lateral ventriculomegaly, and congenital heart defects by whole-genome and high-resolution chromosome microarray analysis (CMA)...
December 2016: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28040135/pallister-killian-syndrome-cytogenetics-and-molecular-investigations-of-mosaic-tetrasomy-12p-in-prenatal-chorionic-villus-and-in-amniocytes-strategy-of-prenatal-diagnosis
#7
Francesco Libotte, Domenico Bizzoco, Ivan Gabrielli, Alvaro Mesoraca, Pietro Cignini, Salvatore Giovanni Vitale, Ilaria Marilli, Ferdinando Antonio Gulino, Agnese Maria Chiara Rapisarda, Claudio Giorlandino
OBJECTIVE: Pallister-Killian syndrome (PKS) is a rare, sporadic genetic disorder caused by mosaic tetrasomy of the short arm of chromosome 12 (12p). Clinically, PKS is characterized by several systemic abnormalities, such as intellectual impairment, hearing loss, epilepsy, hypotonia, craniofacial dysmorphism, pigmentary skin anomalies, epilepsy, and a variety of congenital malformations. Prenatally, PKS can be suspected in the presence of ultrasound anomalies: diaphragmatic hernia, rhizomelic micromelia, hydrops fetalis, fetal overweight, ventriculomegaly in the central nervous system, congenital heart defects, or absent visualization of the stomach...
December 2016: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28035386/microduplication-of-7q36-3-encompassing-the-shh-long%C3%A2-range-regulator-zrs-in-a-patient-with-triphalangeal-thumb%C3%A2-polysyndactyly-syndrome-and-congenital-heart-disease
#8
Zhenghua Liu, Ni Yin, Lianghui Gong, Zhiping Tan, Bangliang Yin, Yifeng Yang, Cheng Luo
Triphalangeal thumb‑polysyndactyly syndrome (TPT‑PS) is an autosomal dominant disorder with complete penetrance and a variable expression consisting of opposable triphalangeal thumbs, duplication of the distal thumb phalanx, pre‑axial polydactyly and duplication of the big toes (hallux). The causative gene of TPT‑PS has been mapped to 7q36.3. Sonic hedgehog (SHH) expressed in the zone of polarizing activity (ZPA) has an important role in defining the anterior‑posterior axis and numbers of digits in limb bud development...
December 29, 2016: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28030855/a-rare-de-novo-interstitial-duplication-at-4p15-2-in-a-boy-with-severe-congenital-heart-defects-limb-anomalies-hypogonadism-and-global-developmental-delay
#9
Liyang Liang, Yingjun Xie, Yiping Shen, Qibin Yin, Haiming Yuan
Proximal 4p deletion syndrome is a relatively rare genetic condition characterized by dysmorphic facial features, limb anomalies, minor congenital heart defects, hypogonadism, cafe-au-lait spots, developmental delay, tall and thin habitus, and intellectual disability. At present, over 20 cases of this syndrome have been published. However, duplication of the same region in proximal 4p has never been reported. Here, we describe a 2-year-5-month-old boy with severe congenital heart defects, limb anomalies, hypogonadism, distinctive facial features, pre- and postnatal developmental delay, and mild cognitive impairments...
December 29, 2016: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28018896/factors-influencing-neurodevelopment-after-cardiac-surgery-during-infancy
#10
REVIEW
Hedwig Hubertine Hövels-Gürich
Short- and long-term neurodevelopmental (ND) disabilities with negative impact on psychosocial and academic performance, quality of life, and independence in adulthood are known to be the most common sequelae for surviving children after surgery for congenital heart disease (CHD). This article reviews influences and risk factors for ND impairment. For a long time, the search for independent risk factors was focused on the perioperative period and modalities of cardiopulmonary bypass (CPB). CPB operations to ensure intraoperative vital organ perfusion and oxygen supply with or without circulatory arrest or regional cerebral perfusion bear specific risks...
2016: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28018021/exome-sequencing-identifies-compound-heterozygous-mutations-in-scn5a-associated-with-congenital-complete-heart-block-in-the-thai-population
#11
Chuphong Thongnak, Pornprot Limprasert, Duangkamol Tangviriyapaiboon, Suchaya Silvilairat, Apichaya Puangpetch, Ekawat Pasomsub, Chonlaphat Sukasem, Wasun Chantratita
Background. Congenital heart block is characterized by blockage of electrical impulses from the atrioventricular node (AV node) to the ventricles. This blockage can be caused by ion channel impairment that is the result of genetic variation. This study aimed to investigate the possible causative variants in a Thai family with complete heart block by using whole exome sequencing. Methods. Genomic DNA was collected from a family consisting of five family members in three generations in which one of three children in generation III had complete heart block...
2016: Disease Markers
https://www.readbyqxmd.com/read/28017577/ebstein-s-anomaly-genetics-clinical-manifestations-and-management
#12
REVIEW
Shi-Min Yuan
Ebstein's anomaly is uncommon. Genetic bases of this congenital heart defect may be related to the mutations in myosin heavy chain 7 and NKX2.5, among others. Asymptomatic patients with Ebstein's anomaly can be conservatively treated and kept under close follow-up, whereas surgical operation is indicated for those patients with evidence of right heart dilation and progressively impaired ventricular systolic function. A biventricular repair consisting of the reconstruction of a competent monocuspid tricuspid valve, right ventriculorrhaphy, subtotal atrial septal defect closure, and aggressive reduction atrioplasty is suitable for most patients, and 1...
November 19, 2016: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/28011082/-neonatal-arterial-ischemic-stroke-review-of-the-current-guidelines
#13
E Saliba, T Debillon, S Auvin, O Baud, V Biran, J-L Chabernaud, S Chabrier, F Cneude, A-G Cordier, V Darmency-Stamboul, J-F Diependaele, T Debillon, M Dinomais, C Durand, A Ego, G Favrais, Y Gruel, L Hertz-Pannier, B Husson, S Marret, S N'Guyen The Tich, T Perez, E Saliba, J-B Valentin, C Vuillerot
Neonatal arterial ischemic stroke (NAIS) is a rare event that occurs in approximately one in 5000 term or close-to-term infants. Most affected infants will present with seizures. Although a well-recognized clinical entity, many questions remain regarding diagnosis, risk factors, treatment, and follow-up modalities. In the absence of a known pathophysiological mechanism and lack of evidence-based guidelines, only supportive care is currently provided. To address these issues, a French national committee set up by the French Neonatal Society (Société française de néonatologie) and the national referral center (Centre national de référence) for arterial ischemic stroke in children drew up guidelines based on an HAS (Haute Autorité de santé [HAS]; French national authority for health) methodology...
December 20, 2016: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28009100/rare-copy-number-variants-in-a-population-based-investigation-of-hypoplastic-right-heart-syndrome
#14
Aggeliki Dimopoulos, Robert J Sicko, Denise M Kay, Shannon L Rigler, Charlotte M Druschel, Michele Caggana, Marilyn L Browne, Ruzong Fan, Paul A Romitti, Lawrence C Brody, James L Mills
BACKGROUND: Hypoplastic right heart syndrome (HRHS) is a rare congenital defect characterized by underdevelopment of the right heart structures commonly accompanied by an atrial septal defect. Familial HRHS reports suggest genetic factor involvement. We examined the role of copy number variants (CNVs) in HRHS. METHODS: We genotyped 32 HRHS cases identified from all New York State live births (1998-2005) using Illumina HumanOmni2.5 microarrays. CNVs were called with PennCNV and prioritized if they were ≥20 Kb, contained ≥10 SNPs and had minimal overlap with CNVs from in-house controls, the Database of Genomic Variants, HapMap3, and Childrens Hospital of Philadelphia database...
December 23, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/28007475/mechanisms-of-retinoic-acid-signaling-during-cardiogenesis
#15
REVIEW
Sonia Stefanovic, Stéphane Zaffran
Substantial experimental and epidemiological data have highlighted the interplay between nutritional and genetic factors in the development of congenital heart defects. Retinoic acid (RA), a derivative of vitamin A, plays a key role during vertebrate development including the formation of the heart. Retinoids bind to RA and retinoid X receptors (RARs and RXRs) which then regulate tissue-specific genes. Here, we will focus on the roles of RA signaling and receptors in gene regulation during cardiogenesis, and the consequence of deregulated retinoid signaling on heart formation and congenital heart defects...
December 19, 2016: Mechanisms of Development
https://www.readbyqxmd.com/read/27996060/highly-variable-penetrance-of-abnormal-phenotypes-in-embryonic-lethal-knockout-mice
#16
Robert Wilson, Stefan H Geyer, Lukas Reissig, Julia Rose, Dorota Szumska, Emily Hardman, Fabrice Prin, Christina McGuire, Ramiro Ramirez-Solis, Jacqui White, Antonella Galli, Catherine Tudor, Elizabeth Tuck, Cecilia Mazzeo, James C Smith, Elizabeth Robertson, David J Adams, Timothy Mohun, Wolfgang J Weninger
Background: Identifying genes that are essential for mouse embryonic development and survival through term is a powerful and unbiased way to discover possible genetic determinants of human developmental disorders. Characterising the changes in mouse embryos that result from ablation of lethal genes is a necessary first step towards uncovering their role in normal embryonic development and establishing any correlates amongst human congenital abnormalities. Methods: Here we present results gathered to date in the Deciphering the Mechanisms of Developmental Disorders (DMDD) programme, cataloguing the morphological defects identified from comprehensive imaging of 220 homozygous mutant embryos from 42 lethal and subviable lines, analysed at E14...
November 15, 2016: Wellcome Open Res
https://www.readbyqxmd.com/read/27990414/what-is-new-in-genetics-of-congenital-heart-defects
#17
REVIEW
Maria Cristina Digilio, Bruno Marino
Epidemiological studies, clinical observations, and advances in molecular genetics are contributing to the understanding of the etiology of congenital heart defects (CHDs). Several phenotype-genotype correlation studies have suggested that specific morphogenetic mechanisms put in motion by genes can result in a specific cardiac phenotype. The use of new technologies has increased the possibility of identification of new genes and chromosomal loci in syndromic and non-syndromic CHDs. There are a number of methods available for genetic research studies of CHDs, including cytogenetic analysis, linkage and association studies, copy number variation (CNV) and DNA micro-array analysis, and whole exome sequencing...
2016: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/27984612/-molecular-cytogenetic-analysis-of-a-case-with-ring-chromosome-3-syndrome
#18
Kaihui Zhang, Fengling Song, Dongdong Zhang, Haiyan Zhang, Ying Wang, Rui Dong, Yufeng Zhang, Yi Liu, Zhongtao Gai
OBJECTIVE: To investigate the genetic cause for a child with developmental delay and congenital heart disease through molecular cytogenetic analysis. METHODS: G-banded karyotyping and chromosomal microarray analysis (CMA) were performed for the patient and his parents. RESULTS: The proband's karyotype was detected as ring chromosome 3, and a 3q26.3-25.3 deletion encompassing 45 genes has been found with CMA. Testing of both parents was normal...
December 10, 2016: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/27973931/anesthetic-management-of-a-patient-with-emanuel-syndrome
#19
Masanori Tsukamoto, Takashi Hitosugi, Kanako Esaki, Takeshi Yokoyama
Emanuel syndrome is associated with supernumerary chromosome, which consists of the extra genetic material from chromosome 11 and 22. The frequency of this syndrome has been reported as 1 in 110,000. It is a rare anomaly associated with multiple systemic malformations such as micrognathia and congenital heart disease. In addition, patients with Emanuel syndrome may have seizure disorders. We experienced anesthetic management of a patient with Emanuel syndrome who underwent palatoplasty. This patient had received tracheotomy due to micrognathia...
2016: Anesthesia Progress
https://www.readbyqxmd.com/read/27959615/developmental-mechanisms-of-aortic-valve-malformation-and-disease
#20
Bingruo Wu, Yidong Wang, Feng Xiao, Jonathan T Butcher, Katherine E Yutzey, Bin Zhou
Normal aortic valves are composed of valve endothelial cells (VECs) and valve interstitial cells (VICs). VICs are the major cell population and have distinct embryonic origins in the endocardium and cardiac neural crest cells. Cell signaling between the VECs and VICs plays critical roles in aortic valve morphogenesis. Disruption of major cell signaling pathways results in aortic valve malformations, including bicuspid aortic valve (BAV). BAV is a common congenital heart valve disease that may lead to calcific aortic valve disease (CAVD), but there is currently no effective medical treatment for this beyond surgical replacement...
December 9, 2016: Annual Review of Physiology
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