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Fetal cardiac defects

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)...
July 30, 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...
July 10, 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
Athiel Yoann, Barrois Mathilde, Bault Jean-Philippe, Cohen Laurence, Leroy Brigitte, Quibel Thibaud
Congenital ventricular aneurysms and diverticula are rare congenital heart diseases, currently accessible to prenatal diagnosis. Information on the natural course of ventricular aneurysm or diverticulum detected during fetal life is limited as there are only few case reports and case series enumerating the defect. We aimed to describe through three cases, the prenatal features and clinical outcomes of fetal cardiac aneurysms. The first one was diagnosed during the second trimestrer and spontaneous evolution was favorable...
June 19, 2018: Journal of Gynecology Obstetrics and Human Reproduction
Manisha Kumar, Vandana Jha, Anuradha Singh
Aims and Objective: To evaluate the cause of NIHF cases referred to a tertiary referral center and to analyze the outcome. Materials and Methods: A total of 130 cases of fetal hydrops registered during eight-year study period were reviewed. Antenatal ultrasound, blood investigations and postnatal fetal examination were done, and outcome was noted. Results: Out of 130 cases of NIHF, antenatal ultrasound showed the presence of structural malformations in 94/130 (72...
June 2018: Journal of Obstetrics and Gynaecology of India
Thomas Hadberg Lynge, Alexander Gade Jeppesen, Bo Gregers Winkel, Charlotte Glinge, Michael Rahbek Schmidt, Lars Søndergaard, Bjarke Risgaard, Jacob Tfelt-Hansen
BACKGROUND: Congenital heart defects (CHD) are among the leading causes of sudden cardiac death (SCD) in the young. Nationwide incidence of SCD in people with CHD (SCD-CHD) has not been established in the young general population. The aims of this study were to investigate incidence of SCD-CHD and whether incidence of SCD-CHD in infants declined after implementation of nationwide fetal ultrasound screening in Denmark. METHODS: All deaths (n=11 451) among people aged 0 to 35 years in Denmark in 2000 to 2009 (24...
June 2018: Circulation. Arrhythmia and Electrophysiology
Sudhir Khanal, Sunil Bahl, Mohammad Sharifuzzaman, Deepak Dhongde, Sirima Pattamadilok, Susan Reef, Michelle Morales, Alya Dabbagh, Katrina Kretsinger, Minal Patel
In 2013, the 66th session of the Regional Committee of the World Health Organization (WHO) South-East Asia Region (SEAR)* adopted the goal of elimination of measles and control† of rubella and congenital rubella syndrome (CRS) by 2020 (1). Rubella is the leading vaccine-preventable cause of birth defects. Although rubella typically causes a mild fever and rash in children and adults, rubella virus infection during pregnancy, especially during the first trimester, can result in miscarriage, fetal death, or a constellation of congenital malformations known as CRS, commonly including visual, auditory, and/or cardiac defects, and developmental delay (2)...
June 1, 2018: MMWR. Morbidity and Mortality Weekly Report
Krzysztof Grabowski, Maciej Aleksander Karolczak, Ewa Zacharska-Kokot, Wojciech Mądry, Jacek Pająk
Background: In the present paper, the authors describe a case of a rare congenital defect - anomalous origin of the right coronary artery from the main pulmonary artery diagnosed in a 5-week-old infant who was deemed eligible for surgical treatment based solely on echocardiography. Such anatomical abnormalities of the coronary arteries are subtle and thus extremely difficult to visualize, especially in patients in whom permanent extensive damage of the cardiac muscle has not yet occurred...
March 2018: Journal of Ultrasonography
Huili Lim, Chuen Jye Yeoh, Jerry Tan, Harikrishnan Kothandan, May U S Mok
The discordance between increased physiological demand during pregnancy and congenital cardiac pathology of a parturient is a perilous threat to the maternal-fetal well-being. Early involvement of a multidisciplinary team is essential in improving peripartum morbidity and mortality. Designing the most appropriate anesthetic care will require a concerted effort, with inputs from the obstetricians, obstetric and cardiac anesthesiologists, cardiologists, neonatologists, and cardiothoracic surgeons. We report the multidisciplinary peripartum care and anesthetic management for cesarean section (CS) of a 28-year-old primigravida who has partially corrected transposition of the great arteries, atrial and ventricular septal defect, dextrocardia, right ventricle hypoplasia, and tricuspid atresia...
2018: Case Reports in Anesthesiology
Marlin Touma
Congenital heart defects (CHDs) are the most common cause of childhood morbidity and early mortality. Prenatal detection of the underlying molecular mechanisms of CHDs is crucial for inventing new preventive and therapeutic strategies. Mutant mouse models are powerful tools to discover new mechanisms and environmental stress modifiers that drive cardiac development and their potential alteration in CHDs. However, efforts to establish the causality of these putative contributors have been limited to histological and molecular studies in non-survival animal experiments, in which monitoring the key physiological and hemodynamic parameters is often absent...
May 5, 2018: Journal of Visualized Experiments: JoVE
Sveva Bollini, Antonietta R Silini, Asmita Banerjee, Susanne Wolbank, Carolina Balbi, Ornella Parolini
Efficient cardiac repair and ultimate regeneration still represents one of the main challenges of modern medicine. Indeed, cardiovascular disease can derive from independent conditions upsetting heart structure and performance: myocardial ischemia and infarction (MI), pharmacological cardiotoxicity, and congenital heart defects, just to name a few. All these disorders have profound consequences on cardiac tissue, inducing the onset of heart failure over time. Since the cure is currently represented by heart transplantation, which is extremely difficult due to the shortage of donors, much effort is being dedicated to developing innovative therapeutic strategies based on stem cell exploitation...
2018: Frontiers in Physiology
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