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Fetal cardiac defects

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https://www.readbyqxmd.com/read/30514144/prenatal-atrioventricular-septal-defect-avsd-as-a-planned-congenital-heart-disease-with-different-outcome-depending-on-the-presence-of-the-coexisting-extracardiac-abnormalities-eca-and-or-malformations-ecm
#1
Słodki Maciej, Soroka Małgorzata, Rizzo Giuseppe, Respondek-Liberska Maria
INTRODUCTION: Prenatal atrioventricular septal defect (AVSD) on frequent occasions coexists with other cardiac or extracardiac abnormalities or malformation which may change the prognosis and the management with the fetus and the newborn. The aim of the research was to assess the prognosis and the outcome of prenatally diagnosed AVSD based on the classification which also includes coexisting extracardiac abnormalities and malformations as well as its influence on the prenatal consultation...
December 4, 2018: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/30508919/investigating-the-characteristics-of-echocardiogram-surgical-treatment-chromosome-and-prognosis-for-fetal-right-heart-enlargement-a-strobe-compliant-article
#2
Lin Liu, Hong-Dan Wang, Cun-Ying Cui, Hui-Mei Yao, Lei Huang, Tao Li, Tai-Bing Fan, Bang-Tian Peng, Lian-Zhong Zhang
The prognosis of right heart enlargement varies according to different etiologies. The purpose of this study was to investigate the characteristics of echocardiogram, surgical treatment, chromosome and prognosis for fetal right heart enlargement.The foetal echocardiogram was performed on 3987 pregnant women, and then 88 fetuses with right heart enlargement were identified. The data about prenatal and postnatal echocardiograms, postnatal cardiac surgical treatment, karyotype analysis and autopsy after induced labor were analyzed in the 88 fetuses...
November 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/30507091/a-pathogenic-homozygous-mutation-in-the-pleckstrin-homology-domain-of-rasa1-is-responsible-for-familial-tricuspid-atresia-in-an-iranian-consanguineous-family
#3
Ahoura Nozari, Ehsan Aghaei-Moghadam, Aliakbar Zeinaloo, Afagh Alavi, Saghar Ghasemi Firouzabdi, Shohre Minaee, Marzieh Eskandari Hesari, Farkhondeh Behjati
Objective: Tricuspid atresia (TA) is a rare life-threatening form of congenital heart defect (CHD). The genetic mechanisms underlying TA are not clearly understood. According to previous studies, the endocardial cushioning event, as the primary sign of cardiac valvulogenesis, is governed by several overlapping signaling pathways including Ras/ ERK pathway. RASA1, a regulator of cardiovascular development, is involved in this pathway and its haploinsufficiency (due to heterozygous mutations) has been identified as the underlying etiology of the autosomal dominant capillary malformation/arteriovenous malformation (CM/AVM)...
April 2019: Cell Journal
https://www.readbyqxmd.com/read/30482890/anomalous-fusion-of-right-pulmonary-artery-to-aortic-arch-case-report-of-a-rare-and-fatal-congenital-malformation-in-a-newborn-and-a-literature-review
#4
Cristian D'Ovidio, Lidia Decembrino, Mauro Stronati, Aldo Carnevale, Rossano Lattanzio
BACKGROUND We present a report of a rare cardiac malformation case as well as a review of the literature. In addition, the diagnostic features are discussed. CASE REPORT The case of a female newborn who died on her third day of life was studied at the Institute of Legal Medicine, University of Chieti-Pescara (Italy). The investigations around her death revealed a cardiac congenital malformation, seen as a rare variant of a common arterial trunk, in which the aorta was fused with the right branch of the pulmonary artery...
November 28, 2018: American Journal of Case Reports
https://www.readbyqxmd.com/read/30473118/next-generation-sequencing-using-a-cardiac-gene-panel-in-prenatally-diagnosed-cardiac-anomalies
#5
Ryan E Lamont, Yanwei Xi, Claire Popko, Joanna Lazier, Francois P Bernier, Julie L Lauzon, A Micheil Innes, Jillian S Parboosingh, Mary Ann Thomas
OBJECTIVE: Most prenatally identified congenital heart defects (CHDs) are the sole structural anomaly detected; however, there is a subgroup of cases where the specific genetic cause will impact prognosis, including chromosome abnormalities and single-gene causes. Next-generation sequencing of all the protein coding regions in the genome or targeted to genes involved in cardiac development is currently possible in the prenatal period, but there are minimal data on the clinical utility of such an approach...
November 2018: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/30442163/early-diagnosis-and-management-of-cardiac-manifestations-in-mucopolysaccharidoses-a-practical-guide-for-paediatric-and-adult-cardiologists
#6
REVIEW
Lucia Boffi, Pierluigi Russo, Giuseppe Limongelli
Mucopolysaccharidoses (MPS) are a group of hereditary disorders caused by lysosomal storage of glycosaminoglycans (GAGs) and characterized by a wide variability of phenotypes from severe fetal-neonatal forms to attenuated diseases diagnosed in adult individuals. The clinical picture generally worsens with age due to progressive storage involving mucosal tissue, upper airways and lungs, bones and joints, central and peripheral nervous system, heart, liver, eye, and ear. Cardiac storage of GAGs involves valves, heart muscle, and vessels (particularly the coronary arteries), and can be specific in relation to different MPS types and enzyme defects...
November 16, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/30440385/preliminary-evaluation-of-fetal-congenital-heart-defects-changes-on-fetal-maternal-heart-rate-coupling-strength
#7
Haitham M Alangari, Yoshitaka Kimura, Ahsan H Khandoker
Monitoring fetal heart rate in an important aspect in evaluating fetal well being. Maternal-fetal interaction has shown evolution during fetal maturation. In this work, we studied maternal-fetal heart rate synchronization in early and late gestation fetuses. We also evaluated variations in the synchronization due to congenital heart defect (CHD). Maternal-fetal heart rate synchronization for 22 early gestation (Age < 32 weeks), $late gestation (Age >32 weeks) and 7 CHD fetuses (5 of them with gestational age < 32 weeks)...
July 2018: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/30428736/up-regulation-of-fibroblast-growth-factor-receptor-1-due-to-prenatal-tobacco-exposure-can-lead-to-developmental-defects-in-new-born
#8
Pallavi Saxena, Dibyabhaba Pradhan, Rashi Verma, Shashi Nandar Kumar, Ravi Deval, Arun Kumar Jain
INTRODUCTION: Tobacco-smoking is one of the most important risk factor for preterm delivery, pregnancy loss, low birth weight, and fetal growth restriction. It is estimated that approximately 30% of growth-restricted neonates could be independently associated with maternal smoking. METHODS: In this study, gene expression profile, GSE11798, was chosen from GEO database with an aim to perceive change in gene expression signature in new born due to maternal smoking...
November 14, 2018: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/30391667/functional-characterization-of-trpm4-variants-identified-in-sudden-unexpected-natural-death
#9
Ekaterina Subbotina, Nori Williams, Barbara A Sampson, Yingying Tang, William A Coetzee
BACKGROUND: The TRPM4 gene encodes the subunit of the Ca2+ -activated nonselective cation channel, which is enriched in the specialized cardiac conduction system and Purkinje fibers. To date, several putative disease-causing variants in TRPM4 have been reported to be associated with cardiac arrhythmia and progressive conduction disease. Here, we report the functional effects of previously uncharacterized variants of uncertain significance (VUS) that we have found while performing a "genetic autopsy" in individuals who have suffered sudden unexpected death (SUD) in the New York City area...
December 2018: Forensic Science International
https://www.readbyqxmd.com/read/30381848/dynamic-fetal-cardiac-magnetic-resonance-four-chamber-view-imaging-using-doppler-ultrasound-gating-in-the-normal-fetal-heart-and-in-congenital-heart-disease-comparison-to-fetal-echocardiography
#10
M Tavares de Sousa, K Hecher, J Yamamura, F Kording, C Ruprecht, K Fehrs, C Behzadi, G Adam, B P Schoennagel
OBJECTIVES: To investigate the diagnostic performance of dynamic fetal cardiac MRI using a MR compatible Doppler Ultrasound (DUS) device for fetal cardiac gating to differentiate normal fetal hearts from fetuses with congenital heart disease in comparison to fetal echocardiography. METHODS: This was a prospective study including 8 fetuses with a normal heart and four with a congenital heart defect (CHD) at a median of 34 weeks (range 28 - 36). Dynamic fetal cardiac MRI was performed using a DUS device for direct cardiac gating...
October 31, 2018: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/30371314/crispr-mediated-expression-of-the-fetal-scn5a-isoform-in-adult-mice-causes-conduction-defects-and-arrhythmias
#11
Paul D Pang, Katherina M Alsina, Shuyi Cao, Amrita B Koushik, Xander H T Wehrens, Thomas A Cooper
Background The sodium channel, Nav 1.5, encoded by SCN 5A, undergoes developmentally regulated splicing from inclusion of exon 6A in the fetal heart to exon 6B in adults. These mutually exclusive exons differ in 7 amino acids altering the electrophysiological properties of the Nav 1.5 channel. In myotonic dystrophy type 1, SCN 5A is mis-spliced such that the fetal pattern of exon 6A inclusion is detected in adult hearts. Cardiac manifestations of myotonic dystrophy type 1 include conduction defects and arrhythmias and are the second-leading cause of death...
October 2, 2018: Journal of the American Heart Association
https://www.readbyqxmd.com/read/30354401/ufm1-specific-ligase-ufl1-regulates-endoplasmic-reticulum-homeostasis-and-protects-against-heart-failure
#12
Jie Li, Guihua Yue, Wenxia Ma, Aizhen Zhang, Jianqiu Zou, Yafei Cai, Xiaoli Tang, Jun Wang, Jinbao Liu, Honglin Li, Huabo Su
BACKGROUND: Defects in protein homeostasis are sufficient to provoke cardiac remodeling and dysfunction. Although posttranslational modifications by ubiquitin and ubiquitin-like proteins are emerging as an important regulatory mechanism of protein function, the role of Ufm1 (ubiquitin-fold modifier 1)-a novel ubiquitin-like protein-has not been explored in either the normal or stressed heart. METHODS AND RESULTS: Western blotting revealed that Ufl1 (Ufm1-specific E3 ligase 1)-an enzyme essential for Ufm1 modification-was increased in hypertrophic mouse hearts but reduced in the failing hearts of patients with dilated cardiomyopathy...
October 2018: Circulation. Heart Failure
https://www.readbyqxmd.com/read/30342662/prenatal-diagnosis-of-a-familial-5p14-3-p14-1-deletion-encompassing-cdh18-cdh12-pmchl1-prdm9-and-cdh10-in-a-fetus-with-congenital-heart-disease-on-prenatal-ultrasound
#13
Chih-Ping Chen, Shu-Yuan Chang, Chen-Ju Lin, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Shih-Ting Lai, Tzu-Yun Chuang, Wen-Lin Chen, Chien-Wen Yang, Wayseen Wang
OBJECTIVE: We present prenatal diagnosis of a familial 5p14.3-p14.1 deletion in a fetus with congenital heart disease on prenatal ultrasound. CASE REPORT: A 33-year-old woman underwent amniocentesis at 18 weeks of gestation because of fetal ventricular septal defect (VSD) and echogenic bowel on prenatal ultrasound. Amniocentesis revealed a karyotype of 46,XX,del (5) (p14p14). Simultaneous array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes revealed a 5...
October 2018: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/30334326/impaired-placental-perfusion-and-major-fetal-cardiac-defects
#14
Ilaria Fantasia, Walkyria Andrade, Argyro Syngelaki, Ranjit Akolekar, Kypros H Nicolaides
OBJECTIVES: To investigate the relationship between fetal congenital heart defects (CHD) and placental perfusion assessed by uterine artery pulsatility index (UtA-PI) in relation to development of preeclampsia (PE). METHODS: This was a prospective screening study in singleton pregnancies at 19-24 weeks' gestation. Transvaginal ultrasound was used to measure the UtA-PI and the values were converted into multiples of the normal median (MoM). Median MoM values in pregnancies with fetuses with isolated major CHD were compared to those without CHD in relation to development of PE...
October 17, 2018: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/30305955/pregnancy-in-adults-with-repaired-unrepaired-atrial-septal-defect
#15
REVIEW
Charlène Bredy, François-Pierre Mongeon, Line Leduc, Annie Dore, Paul Khairy
Atrial septal defect (ASD) is the most common form of congenital heart disease. Left-to-right shunting leads to right ventricular (RV) volume overload with excessive pulmonary blood flow. Complications include exercise intolerance, pulmonary vascular disease, RV dysfunction, paradoxical thromboemboli, and atrial arrhythmias. Women with coexisting severe pulmonary hypertension should be counselled against pregnancy due to high incidence of maternal and fetal morbidity and mortality. In the absence of pulmonary hypertension, pregnancy is generally well tolerated in the setting of an ASD...
September 2018: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/30273582/maternal-biomarkers-for-fetal-heart-failure-in-fetuses-with-congenital-heart-defects-or-arrhythmias
#16
Takekazu Miyoshi, Hiroshi Hosoda, Michikazu Nakai, Kunihiro Nishimura, Mikiya Miyazato, Kenji Kangawa, Tomoaki Ikeda, Jun Yoshimatsu, Naoto Minamino
BACKGROUND: Diagnosis of fetal heart failure depends primarily on fetal ultrasonography assessment. Our recent study demonstrated that plasma natriuretic peptide levels in umbilical cord blood were correlated with the severity of heart failure in fetuses with congenital heart defects or arrhythmias. However, percutaneous umbilical blood sampling is an invasive procedure, and therefore less or non-invasive biomarkers reflecting fetal heart failure are required. OBJECTIVES: The aim of this study was to investigate the possibility whether maternal serum biomarkers can diagnose fetal heart failure in fetuses with congenital heart defects or arrhythmias...
September 28, 2018: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/30251391/applicability-of-standardized-early-fetal-heart-examination-in-the-obese-population
#17
Mehmet Resit Asoglu, Ruofan Yao, Lindsey Seger, Ozhan Mehmet Turan, Sifa Turan
OBJECTIVE: This study aimed to evaluate the impact of obesity on early evaluation of fetal cardiac landmarks using a standardized examination method at the time of nuchal translucency scan. METHODS: This was a cross-sectional study of an ongoing prospective cohort at high risk for congenital heart defects. We used a standardized examination protocol using 2-dimensional sonography with power Doppler in the evaluation of fetal cardiac landmarks consisting of 4-chamber view, outflow tract relationship, and transverse arches view...
September 24, 2018: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/30231013/mechanisms-of-death-in-structurally-normal-stillbirths
#18
Percy Pacora, Roberto Romero, Sunil Jaiman, Offer Erez, Gaurav Bhatti, Bogdan Panaitescu, Neta Benshalom-Tirosh, Eun Jung Jung, Chaur-Dong Hsu, Sonia S Hassan, Lami Yeo, Nicholas Kadar
Objectives To investigate mechanisms of in utero death in normally formed fetuses by measuring amniotic fluid (AF) biomarkers for hypoxia (erythropoietin [EPO]), myocardial damage (cardiac troponin I [cTnI]) and brain injury (glial fibrillary acidic protein [GFAP]), correlated with risk factors for fetal death and placental histopathology. Methods This retrospective, observational cohort study included intrauterine deaths with transabdominal amniocentesis prior to induction of labor. Women with a normal pregnancy and an indicated amniocentesis at term were randomly selected as controls...
September 19, 2018: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/30189253/tarp-syndrome-long-term-survival-anatomic-patterns-of-congenital-heart-defects-differential-diagnosis-and-pathogenetic-considerations
#19
Marcello Niceta, Sabina Barresi, Francesca Pantaleoni, Rossella Capolino, Maria Lisa Dentici, Andrea Ciolfi, Simone Pizzi, Andrea Bartuli, Bruno Dallapiccola, Marco Tartaglia, Maria Cristina Digilio
TARP syndrome (TARPS) is an X-linked syndromic condition including Robin sequence, congenital heart defects, developmental delay, feeding difficulties and talipes equinovarus, as major features. The disease is caused by inactivating mutations in RBM10 which encodes for a RNA binding motif protein involved in transcript processing. We herein report a male born from healthy and non-consanguineous parents, presenting prenatal record of intrauterine fetal growth retardation, and postnatal features including growth and developmental delays, CNS abnormalities, facial dysmorphisms, bilateral syndactyly at the hands, talipes equinovarus and congenital heart defects...
September 3, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/30133550/genetic-testing-and-pregnancy-outcome-analysis-of-362-fetuses-with-congenital-heart-disease-identified-by-prenatal-ultrasound
#20
Shiyu Luo, Dahua Meng, Qifei Li, Xuehua Hu, Yuhua Chen, Chun He, Bobo Xie, Shangyang She, Yingfeng Li, Chunyun Fu
BACKGROUND: Congenital heart defects (CHD), as the most common congenital anomaly, have been reported to be associated with chromosomal abnormalities. Currently, patients with CHD are routinely offered karyotyping and chromosomal microarray (CMA) testing, but the genotype-phenotype relationship has not yet been fully established. OBJECTIVE: To determine the type and frequency of chromosomal abnormalities in fetuses with CHD and to analyze pregnancy outcomes of fetuses with heart abnormalities caused by different genetic factors...
October 2018: Arquivos Brasileiros de Cardiologia
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