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https://www.readbyqxmd.com/read/28646505/hypomethylation-and-decreased-expression-of-brg1-in-the-myocardium-of-patients-with-congenital-heart-disease
#1
Yanyan Qian, Deyong Xiao, Xiao Guo, Hongbo Chen, Lili Hao, Xiaojing Ma, Guoying Huang, Duan Ma, Huijun Wang
BACKGROUND: BRG1, an ATPase subunit of the SWItch/Sucrose Non-Fermentable complex, is tightly associated with cardiac development. However, little is known about the association between the pathogenesis of CHD and BRG1. METHODS: The methylation of a BRG1 promoter and a novel CpG island in the second intron was analyzed in the myocardium of congenital heart disease (CHD) patients (n = 24) and normal controls (n = 11) using pyrosequencing and the MassARRAY platform...
June 24, 2017: Birth defects research
https://www.readbyqxmd.com/read/28646501/progressive-aortic-root-dilatation-in-pediatric-heart-transplant-recipients
#2
Shagun Sachdeva, Liyun Zhang, Pippa Simpson, Peter C Frommelt
BACKGROUND: To determine prevalence, clinical implication, and risk factors for aortic root dilation (ARD) in pediatric heart transplant recipients. METHODS: Serial echocardiograms were reviewed in all pediatric heart transplant recipients from 1999 to 2014 to assess maximal systolic diameter at the aortic annulus, aortic sinus, aortic sino-tubular (ST) junction, and ascending aorta. ARD was defined by a sinus/annulus ratio >1.56, ST junction/annulus ratio >1...
June 23, 2017: Echocardiography
https://www.readbyqxmd.com/read/28646273/pulmonary-vascular-volume-ratio-measured-by-cardiac-computed-tomography-in-children-and-young-adults-with-congenital-heart-disease-comparison-with-lung-perfusion-scintigraphy
#3
Hyun Woo Goo, Sang Hyub Park
BACKGROUND: Lung perfusion scintigraphy is regarded as the gold standard for evaluating differential lung perfusion ratio in congenital heart disease. OBJECTIVE: To compare cardiac CT with lung perfusion scintigraphy for estimated pulmonary vascular volume ratio in patients with congenital heart disease. MATERIALS AND METHODS: We included 52 children and young adults (median age 4 years, range 2 months to 28 years; 31 males) with congenital heart disease who underwent cardiac CT and lung perfusion scintigraphy without an interim surgical or transcatheter intervention and within 1 year...
June 23, 2017: Pediatric Radiology
https://www.readbyqxmd.com/read/28646194/magnetic-resonance-imaging-of-fetal-persistent-left-superior-vena-cava
#4
Su-Zhen Dong, Ming Zhu
This study aimed to evaluate the diagnostic accuracy of fetal magnetic resonance imaging (MRI) for persistent left superior vena cava (LSVC). Prenatal echocardiography (echo) and/or ultrasound (US) and MRI data for 49 fetuses with persistent LSVC, confirmed via postnatal diagnoses between January 2010 and October 2015, were retrospectively reviewed. All prenatal MRI was performed at 1.5 T. Imaging sequences included steady-state free-precession (SSFP), single-shot turbo spin echo (SSTSE), and other sequences...
June 23, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28645799/genotype-phenotype-evaluation-of-med13l-defects-in-the-light-of-a-novel-truncating-and-a-recurrent-missense-mutation
#5
Reza Asadollahi, Markus Zweier, Laura Gogoll, Raphael Schiffmann, Heinrich Sticht, Katharina Steindl, Anita Rauch
A decade after the designation of MED13L as a gene and its link to intellectual disability (ID) and dextro-looped transposition of great arteries in 2003, we previously described a recognizable syndrome due to MED13L haploinsufficiency. Subsequent reports of 22 further patients diagnosed by genome-wide testing further delineated the syndrome with expansion of the phenotypic spectrum and showed reduced penetrance for congenital heart defects. We now report two novel patients identified by whole exome sequencing, one with a de novo MED13L truncating mutation and the other with a de novo missense mutation...
June 20, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28645241/long-term-outcome-after-right-ventricle-to-pulmonary-artery-conduit-surgery-and-reintervention
#6
Kristofer Skoglund, Gunnar Svensson, Ulf Thilén, Mikael Dellborg, Peter Eriksson
BACKGROUND: Reconstruction of the right ventricular outflow tract with a conduit is an established surgical procedure in congenital heart disease and reinterventions are common. OBJECTIVE: An increasing number of patients have a conduit, but there are few population-based studies of long-term outcomes after conduit surgery, reoperations, and transcatheter pulmonary valve replacement. METHODS: In April 2015, all adult patients with a conduit were identified in the Swedish National Registry for Congenital Heart Disease (SWEDCON)...
June 23, 2017: Scandinavian Cardiovascular Journal: SCJ
https://www.readbyqxmd.com/read/28645012/associations-between-toxic-and-essential-trace-elements-in-maternal-blood-and-fetal-congenital-heart-defects
#7
Yanqiu Ou, Michael S Bloom, Zhiqiang Nie, Fengzhen Han, Jinzhuang Mai, Jimei Chen, Shao Lin, Xiaoqing Liu, Jian Zhuang
Prenatal exposure to toxic trace elements, including heavy metals, is an important public health concern. Few studies have assessed if individual and multiple trace elements simultaneously affect cardiac development. The current study evaluated the association between maternal blood lead (Pb), cadmium (Cd), chromium (Cr), copper (Cu), mercury (Hg), and selenium (Se) levels and congenital heart defects (CHDs) in offspring. This hospital-based case-control study included 112 case and 107 control infants. Maternal peripheral blood draw was made during gestational weeks 17-40 and used to determine trace element levels by inductively coupled plasma mass spectrometry...
June 20, 2017: Environment International
https://www.readbyqxmd.com/read/28643420/impact-on-survival-of-warfarin-in-patients-with-pulmonary-arterial-hypertension-receiving-subcutaneous-treprostinil
#8
Mona Ascha, Xuan Zhou, Youlan Rao, Omar A Minai, Adriano R Tonelli
INTRODUCTION: Anticoagulation is a common treatment modality in patients with pulmonary arterial hypertension (PAH). Further studies are needed to appropriately assess the risk / benefit ratio of anticoagulation, particularly in PAH patients receiving PAH-specific therapies. AIMS: We use observational long-term data on PAH patients treated with subcutaneous (SQ) treprostinil from a large open-label study. Patients were followed for up to four years. The use of warfarin and bleeding events were recorded...
June 23, 2017: Cardiovascular Therapeutics
https://www.readbyqxmd.com/read/28643402/clinical-findings-in-right-ventricular-noncompaction-in-hypoplastic-left-heart-syndrome
#9
Monique M Gardner, Meryl S Cohen
BACKGROUND: Noncompaction is a poorly understood form of cardiomyopathy that typically affects the left ventricle and may be associated with congenital heart disease. Right ventricular noncompaction (RVNC) may occur when the left ventricle is affected but is rarely seen in isolation. RVNC may have clinical significance affecting surgical and long-term outcomes. We describe the diagnosis and clinical course in three patients at our institution. METHODS: We performed a retrospective review of patients diagnosed with RVNC over a 12-month period at our institution and reviewed their imaging and clinical course...
June 23, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28642001/regarding-mechanical-circulatory-support-in-adults-with-congenital-heart-disease-is-it-time-to-lower-the-threshold-for-use
#10
EDITORIAL
Roosevelt Bryant, David L S Morales
No abstract text is available yet for this article.
May 29, 2017: Journal of Heart and Lung Transplantation
https://www.readbyqxmd.com/read/28641300/prenatal-diagnosis-of-dextrocardia-with-complex-congenital-heart-disease-using-fetal-intelligent-navigation-echocardiography-fine-and-a-literature-review
#11
Lami Yeo, Suchaya Luewan, Dor Markush, Navleen Gill, Roberto Romero
Fetal dextrocardia is a type of cardiac malposition where the major axis from base to apex points to the right side. This condition is usually associated with a wide spectrum of complex cardiac defects. As a result, dextrocardia is conceptually difficult to understand and diagnose on prenatal ultrasound. The advantage of four-dimensional sonography with spatiotemporal image correlation (STIC) is that this modality can facilitate fetal cardiac examination. A novel method known as fetal intelligent navigation echocardiography (FINE) allows automatic generation of nine standard fetal echocardiography views in normal hearts by applying intelligent navigation technology to STIC volume datasets...
June 23, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28639488/prenatal-exposure-to-serotonin-reuptake-inhibitors-and-congenital-heart-anomalies-an-exploratory-pharmacogenetics-study
#12
Aizati N A Daud, Jorieke E H Bergman, Wilhelmina S Kerstjens-Frederikse, Pieter van der Vlies, Eelko Hak, Rolf M F Berger, Henk Groen, Bob Wilffert
AIM: To explore the role of pharmacogenetics in determining the risk of congenital heart anomalies (CHA) with prenatal use of serotonin reuptake inhibitors. METHODS: We included 33 case-mother dyads and 2 mother-only (child deceased) cases of CHA in a case-only study. Ten genes important in determining fetal exposure to serotonin reuptake inhibitors were examined: CYP1A2, CYP2C9, CYP2C19, CYP2D6, ABCB1, SLC6A4, HTR1A, HTR1B, HTR2A and HTR3B. RESULTS: Among the exposed cases, polymorphisms that tended to be associated with an increased risk of CHA were SLC6A4 5-HTTLPR and 5-HTTVNTR, HTR1A rs1364043, HTR1B rs6296 and rs6298 and HTR3B rs1176744, but none reached statistical significance due to our limited sample sizes...
June 22, 2017: Pharmacogenomics
https://www.readbyqxmd.com/read/28637627/pulmonary-arterial-resistance-and-compliance-in-preterm-infants
#13
Seigo Okada, Jun Muneuchi, Yusaku Nagatomo, Mamie Watanabe, Chiaki Iida, Hiromitsu Shirouzu, Ryohei Matsuoka, Kunitaka Joo
BACKGROUND: Preterm birth is known to be associated with an increased risk of pulmonary arterial hypertension, although how preterm birth influences pulmonary hemodynamics has not been fully understood. Pulmonary arterial resistance (Rp) and compliance (Cp) are important factors to assess the pulmonary circulation. The purpose of this study is to clarify the relationship between Rp and Cp in preterm infants. METHODS: We performed cardiac catheterization in 96 infants (50 males) with ventricular septal defect, and compared pulmonary hemodynamic parameters including Rp and Cp between preterm and full-term infants...
June 16, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28636109/xq26-1-26-3-duplication-including-mospd1-and-gpc3-identified-in-boy-with-short-stature-and-double-outlet-right-ventricle
#14
Yukiko Hirota, Takaomi Minami, Tomoyuki Sato, Akiko Yokomizo, Auimi Matsumoto, Masahide Goto, Eriko Jinbo, Takanori Yamamgata
Xq25q26 duplication syndrome has been reported in individuals with clinical features such as short stature, intellectual disability, syndromic facial appearance, small hands and feet, and genital abnormalities. The symptoms are related to critical chromosome regions including Xq26.1-26.3. In this particular syndrome, no patient with congenital heart disease was previously reported. Here, we report a 6-year-old boy with typical symptoms of Xq25q26 duplication syndrome and double outlet right ventricle (DORV) with pulmonary atresia (PA)...
June 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28634025/impaired-cerebral-autoregulation-in-preoperative-newborn-infants-with-congenital-heart-disease
#15
Jodie K Votava-Smith, Christopher J Statile, Michael D Taylor, Eileen C King, Jesse M Pratt, David P Nelson, Erik C Michelfelder
OBJECTIVES: To characterize cerebral autoregulation (CA) in preoperative newborn infants with congenital heart disease (CHD). METHODS: This was a prospective, pilot study of term newborns with CHD who required intensive care. Continuous mean arterial blood pressure (MAP), cerebral tissue oxygen saturation (SCTO2) via near-infrared spectroscopy, and arterial oxygen saturation (SaO2) were collected. Significant low-frequency coherence between MAP and SCTO2 was used to define impaired CA in 20-minute epochs...
May 23, 2017: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28633370/therapeutic-catheterization-in-congenital-heart-disease-reflections-on-the-value-of-risk-scores
#16
Anselm Uebing, Michael A Gatzoulis, Michael L Rigby
No abstract text is available yet for this article.
June 13, 2017: European Heart Journal
https://www.readbyqxmd.com/read/28633223/primary-pulmonary-vein-stenosis-outcomes-risk-factors-and-severity-score-in-a-multicentric-study
#17
David Kalfa, Emre Belli, Emile Bacha, Virginie Lambert, Duccio di Carlo, Martin Kostolny, Jukka Salminen, Matej Nosal, Alain Poncelet, Jurgen Horer, Hakan Berggren, Illya Yemets, Mark Hazekamp, Bohdan Maruszewski, George Sarris, Marco Pozzi, Tjark Ebels, François Lacour-Gayet
BACKGROUND: Primary pulmonary vein stenosis (PPVS) still carries a poor prognosis, and prognostic factors remain controversial. The aim of this study was to determine outcomes and prognostic factors after PPVS repair in the current era. METHODS: Thirty patients with PPVS and a normal pulmonary vein (PV) connection operated on in 10 European/North American centers (2000-2012) were included retrospectively. A specific PVS severity score was developed based on the assessment of each PV...
July 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28633219/optimizing-public-reporting-of-congenital-heart-surgery-outcomes
#18
EDITORIAL
Sara K Pasquali
No abstract text is available yet for this article.
July 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28632654/an-overview-of-cardiac-computed-tomography-in-adults-with-congenital-heart-disease
#19
Pal Suranyi, Akos Varga-Szemes, Anthony M Hlavacek
Familiarity with congenital heart disease (CHD) and its manifestations in adults is becoming increasingly important for the practicing cardiothoracic imager. The use of computed tomographic angiography is becoming commonplace not only in adults with a history and subsequent interventions for CHD as a child but also in de novo detection of-typically-milder, survivable forms of CHD, which are clinically suspected because of declining cardiac performance, cardiac events, or murmurs. Occasionally, adult CHD (ACHD) is found incidentally on scans performed for other indications (eg, trauma or neoplasm staging) because of improvements in computed tomographic technology and advanced visualization...
July 2017: Journal of Thoracic Imaging
https://www.readbyqxmd.com/read/28632653/imaging-adults-with-congenital-heart-disease-part-ii-advanced-cmr-techniques
#20
Anurag Sahu, Timothy C Slesnick
Because of great strides in medical care, survival into adulthood has become a common expectation in patients suffering from nearly all forms of congenital heart disease. As this aging population expands, the utilization of cardiac magnetic resonance imaging in their care continues to grow. Magnetic resonance technology has developed exponentially over the last 2 decades, and several advanced techniques for imaging adults with congenital heart disease have moved from the purely research arena into routine clinical care...
July 2017: Journal of Thoracic Imaging
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