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Fetal cardiac defects

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
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
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
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
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
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...
August 20, 2018: Arquivos Brasileiros de Cardiologia
Cosimo Marco Campanale, Luciano Pasquini, Teresa Pia Santangelo, Fiore Salvatore Iorio, Pietro Bagolan, Stephen P Sanders, Alessandra Toscano
OBJECTIVES: To report our experience with fetal diagnosis of right aortic arch (RAA) variants based on the ductus arteriosus (DA) anatomy and brachiocephalic vessel branching pattern (BVBP) respectively to the trachea and to establish whether the echocardiographic "V-shaped" or "U-shaped" appearances of the fetal upper mediastinum were sufficiently accurate for fetal aortic arch (AA) assessment. METHODS: We retrospectively identified patients with a fetal diagnosis of RAA referred to our tertiary center from 2011 to 2017 and selected those who had post-natal confirmation of AA anatomy...
August 20, 2018: Ultrasound in Obstetrics & Gynecology
Philipp Wagner, Katrin Eberle, Jiri Sonek, Christoph Berg, Ulrich Gembruch, Markus Hoopmann, Natalia Prodan, Karl Oliver Kagan
OBJECTIVE: To examine the DV flow in fetuses with and without a cardiac defect. In addition to the standard assessment of the DV PIV and the a-wave, we evaluated different phases of the DV flow. METHODS: Retrospective study including singleton pregnancies that underwent first trimester screening, which included DV flow assessment. The study population consisted of normal fetuses and fetuses with major cardiac defect. In each fetus, the DV waveform was evaluated for the following: qualitative assessment of the a-wave, PIV measurement, and ratios of flow velocities during the S- or D peak and the a- or v-wave...
August 20, 2018: Ultrasound in Obstetrics & Gynecology
Jonas B Nielsen, Rosa B Thorolfsdottir, Lars G Fritsche, Wei Zhou, Morten W Skov, Sarah E Graham, Todd J Herron, Shane McCarthy, Ellen M Schmidt, Gardar Sveinbjornsson, Ida Surakka, Michael R Mathis, Masatoshi Yamazaki, Ryan D Crawford, Maiken E Gabrielsen, Anne Heidi Skogholt, Oddgeir L Holmen, Maoxuan Lin, Brooke N Wolford, Rounak Dey, Håvard Dalen, Patrick Sulem, Jonathan H Chung, Joshua D Backman, David O Arnar, Unnur Thorsteinsdottir, Aris Baras, Colm O'Dushlaine, Anders G Holst, Xiaoquan Wen, Whitney Hornsby, Frederick E Dewey, Michael Boehnke, Sachin Kheterpal, Bhramar Mukherjee, Seunggeun Lee, Hyun M Kang, Hilma Holm, Jacob Kitzman, Jordan A Shavit, José Jalife, Chad M Brummett, Tanya M Teslovich, David J Carey, Daniel F Gudbjartsson, Kari Stefansson, Gonçalo R Abecasis, Kristian Hveem, Cristen J Willer
To identify genetic variation underlying atrial fibrillation, the most common cardiac arrhythmia, we performed a genome-wide association study of >1,000,000 people, including 60,620 atrial fibrillation cases and 970,216 controls. We identified 142 independent risk variants at 111 loci and prioritized 151 functional candidate genes likely to be involved in atrial fibrillation. Many of the identified risk variants fall near genes where more deleterious mutations have been reported to cause serious heart defects in humans (GATA4, MYH6, NKX2-5, PITX2, TBX5)1 , or near genes important for striated muscle function and integrity (for example, CFL2, MYH7, PKP2, RBM20, SGCG, SSPN)...
September 2018: Nature Genetics
Hanadi A Abdelrahman, Aisha Al-Shamsi, Anne John, Jozef Hertecant, Ali Lootah, Bassam R Ali, Lihadh Al-Gazali
Non-immune hydrops fetalis (NIHF) is the abnormal accumulation of serous fluid in more than two fetal or neonatal interstitial spaces due to nonimmune causes. It is a serious condition that requires extensive medical care as it indicates severe fetal compromise. We clinically evaluated four patients from two branches of a highly consanguineous family from the UAE with NIHF using whole exome sequencing and in silico analysis. Fetal onset pleural and peritoneal effusions were detected in all four patients and were born with moderate to severe hydrops fetalis that resolved with age...
July 28, 2018: American Journal of Medical Genetics. Part A
Kunal Sarin, Sandeep Chauhan, Akshay Kumar Bisoi, Anjali Hazarika, Neena Malhotra, Pratik Manek
Background: Blood transfusion requirement during neonatal open heart surgeries is universal. Homologous blood transfusion (HBT) in pediatric cardiac surgery is used most commonly for priming of cardiopulmonary bypass (CPB) system and for postoperative transfusion. To avoid the risks associated with HBT in neonates undergoing cardiac surgery, use of autologous umbilical cord blood (AUCB) transfusion has been described. We present our experience with the use of AUCB for neonatal cardiac surgery...
July 2018: Annals of Cardiac Anaesthesia
F Fontanella, L Maggio, J B G M Verheij, L K Duin, P N Adama van Scheltema, T E Cohen-Overbeek, E Pajkrt, M Bekker, C Willekes, C J Bax, V Gracchi, D Oepkes, C M Bilardo
OBJECTIVE: Megacystis represents a challenge in terms of counseling and management due to its various etiology and evolution. The aim of this study is to present a comprehensive overview of the underlying etiologies and structural anomalies associated with fetal megacystis. METHODS: This was a retrospective multicenter study carried out at the Fetal Medicine Units (FMUs) of the eight Academic Hospitals in the Netherlands. For each case referred to one of these centers due to fetal megacystis, data and measurements of fetal urinary tract and associated structural anomalies were collected...
July 24, 2018: Ultrasound in Obstetrics & Gynecology
Heather Y Sun, James A Proudfoot, Rachel T McCandless
BACKGROUND: Fetal echocardiography can accurately diagnose critical congenital heart disease prenatally, but relies on referrals from abnormalities identified on routine obstetrical ultrasounds. Critical congenital heart disease that is frequently missed due to inadequate outflow tract imaging includes anomalies such as truncus arteriosus, double outlet right ventricle, transposition of the great arteries, tetralogy of Fallot, pulmonary stenosis, and aortic stenosis. OBJECTIVE: This study evaluated the prenatal detection rate of critical outflow tract anomalies in a single urban pediatric hospital before and after "AIUM Practice Guideline for the Performance of Obstetric Ultrasound Examinations," which incorporated outflow tract imaging...
July 18, 2018: Congenital Heart Disease
Christopher De Bono, Charlotte Thellier, Nicolas Bertrand, Rachel Sturny, Estelle Jullian, Claudio Cortes, Sonia Stefanovic, Stéphane Zaffran, Magali Théveniau-Ruissy, Robert G Kelly
The arterial and venous poles of the mammalian heart are hotspots of congenital heart defects such as those observed in 22q11.2 deletion (or DiGeorge) and Holt-Oram syndromes. These regions of the heart are derived from late differentiating cardiac progenitor cells of the Second Heart Field (SHF) located in pharyngeal mesoderm contiguous with the elongating heart tube. The T-box transcription factor Tbx1, encoded by the major 22q11.2 deletion syndrome gene, regulates SHF addition to both cardiac poles from a common progenitor population...
July 17, 2018: Human Molecular Genetics
Hazel Edwards, Richard Hamilton
Detection rates of congenital cardiac malformations have traditionally remained low. The NHS Fetal Anomaly Screening Programme (FASP) aims to increase these detection rates for various reasons, including influencing perinatal management and aiding parental decision making. The inclusion of the three vessel view and trachea (3VT) view in 2015 aimed to improve detection rates of arch abnormalities in particular. This study evaluated the early impact of the new initiative at one NHS Trust. Departmental screen-positive rates were compared for a full year before and after implementation...
May 2018: Ultrasound: Journal of the British Medical Ultrasound Society
Trisha V Vigneswaran, Ranjit Akolekar, Argyro Syngelaki, Marietta Charakida, Lindsey D Allan, Kypros H Nicolaides, Vita Zidere, John M Simpson
BACKGROUND: Assessment of the outflow tract views is an integral part of routine fetal cardiac scanning. For some congenital heart defects, notably coarctation of the aorta, pulmonary valve stenosis, and aortic valve stenosis, the size of vessels is important both for diagnosis and prognosis. Existing reference ranges of fetal outflow tracts are derived from a small number of cases. METHODS AND RESULTS: The study population comprised 7945 fetuses at 13 to 36 weeks' gestation with no detectable abnormalities from pregnancies resulting in normal live births...
July 2018: Circulation. Cardiovascular Imaging
Takekazu Miyoshi, Hiroshi Hosoda, Takashi Umekawa, Takashi Asada, Akihiro Fujiwara, Ken-Ichi Kurosaki, Isao Shiraishi, Michikazu Nakai, Kunihiro Nishimura, Mikiya Miyazato, Kenji Kangawa, Tomoaki Ikeda, Jun Yoshimatsu, Naoto Minamino
BACKGROUND: We have previously demonstrated that umbilical cord plasma natriuretic peptide (NP) levels reflect the severity of heart failure (HF) in fetuses with congenital heart defects (CHD). The aim of this study was to evaluate the significance of amniotic fluid (AF) NP levels in the assessment of HF in fetuses with CHD or arrhythmia. Methods and Results: This was a prospective observational study at a tertiary pediatric cardiac center. A total of 95 singletons with CHD or arrhythmia, and 96 controls from 2012 to 2015 were analyzed...
September 25, 2018: Circulation Journal: Official Journal of the Japanese Circulation Society
Emily J Camm, Kimberley J Botting, Amanda N Sferruzzi-Perri
The development of the fetal heart is exquisitely controlled by a multitude of factors, ranging from humoral to mechanical forces. The gatekeeper regulating many of these factors is the placenta, an external fetal organ. As such, resistance within the placental vascular bed has a direct influence on the fetal circulation and therefore, the developing heart. In addition, the placenta serves as the interface between the mother and fetus, controlling substrate exchange and release of hormones into both circulations...
2018: Frontiers in Physiology
Ming-Sum Lee, Avetis Hekimian, Tanya Doctorian, Lewei Duan
BACKGROUND: A growing number of young women are exposed to statins during their first trimester of pregnancy. The goal of this study is to examine if first trimester statin exposure is associated with an increase in risk of fetal congenital cardiac anomalies. METHODS: In a cohort of 379,238 pregnancies, we examined the risk of fetal congenital cardiac anomalies in association with maternal exposure to statin therapy during the first trimester of pregnancy using logistic regression models and propensity score matching methods...
July 4, 2018: International Journal of Cardiology
Caroline Choquet, Thi Hong Minh Nguyen, Pierre Sicard, Emeline Buttigieg, Thi Thom Tran, Frank Kober, Isabelle Varlet, Rachel Sturny, Mauro W Costa, Richard P Harvey, Catherine Nguyen, Pascal Rihet, Sylvain Richard, Monique Bernard, Robert G Kelly, Nathalie Lalevée, Lucile Miquerol
Left ventricular non-compaction (LVNC) is a rare cardiomyopathy associated with a hypertrabeculated phenotype and a large spectrum of symptoms. It is still unclear whether LVNC results from a defect of ventricular trabeculae development and the mechanistic basis that underlies the varying severity of this pathology is unknown. To investigate these issues, we inactivated the cardiac transcription factor Nkx2-5 in trabecular myocardium at different stages of trabecular morphogenesis using an inducible Cx40-creERT2 allele...
July 2018: PLoS Genetics
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