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https://www.readbyqxmd.com/read/28530678/the-complex-genetics-of-hypoplastic-left-heart-syndrome
#1
Xiaoqin Liu, Hisato Yagi, Shazina Saeed, Abha S Bais, George C Gabriel, Zhaohan Chen, Kevin A Peterson, You Li, Molly C Schwartz, William T Reynolds, Manush Saydmohammed, Brian Gibbs, Yijen Wu, William Devine, Bishwanath Chatterjee, Nikolai T Klena, Dennis Kostka, Karen L de Mesy Bentley, Madhavi K Ganapathiraju, Phillip Dexheimer, Linda Leatherbury, Omar Khalifa, Anchit Bhagat, Maliha Zahid, William Pu, Simon Watkins, Paul Grossfeld, Stephen A Murray, George A Porter, Michael Tsang, Lisa J Martin, D Woodrow Benson, Bruce J Aronow, Cecilia W Lo
Congenital heart disease (CHD) affects up to 1% of live births. Although a genetic etiology is indicated by an increased recurrence risk, sporadic occurrence suggests that CHD genetics is complex. Here, we show that hypoplastic left heart syndrome (HLHS), a severe CHD, is multigenic and genetically heterogeneous. Using mouse forward genetics, we report what is, to our knowledge, the first isolation of HLHS mutant mice and identification of genes causing HLHS. Mutations from seven HLHS mouse lines showed multigenic enrichment in ten human chromosome regions linked to HLHS...
May 22, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28529923/the-landscape-of-congenital-heart-disease
#2
Giovanni Biglino
No abstract text is available yet for this article.
April 2017: Cardiovascular Diagnosis and Therapy
https://www.readbyqxmd.com/read/28528723/ventricular-pacing-in-single-ventricles-a-bad-combination
#3
Anica Bulic, Frank J Zimmerman, Scott R Ceresnak, Ira Shetty, Kara S Motonaga, Anne Freter, Anthony V Trela, Deb Hanisch, Lisa Russo, Kishor Avasarala, Anne M Dubin
BACKGROUND: Chronic ventricular pacing (VP) is associated with systolic dysfunction in a subset of pediatric patients with heart block and structurally normal hearts. The effect of chronic VP in congenital heart disease is less well understood, specifically in the single-ventricle (SV) population. OBJECTIVE: To determine the longitudinal effect of VP in SV patients. METHODS: SV patients with heart block and dual-chamber pacemakers requiring >50% VP were compared with nonpaced (controls) SV patients matched for age, sex, and SV morphology...
June 2017: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/28528718/double-outlet-right-ventricle-revisited
#4
Ameneh Ebadi, Diane E Spicer, Carl L Backer, F Jay Fricker, Robert H Anderson
OBJECTIVES: Double-outlet right ventricle is a form of ventriculoarterial connection. The definition formulated by the International Society for Nomenclature of Paediatric and Congenital Heart Disease is based on hearts with both arterial trunks supported in their greater part by a morphologically right ventricle. Bilateral infundibula and ventricular septal defects are highly debated criteria. This study examines the anatomic controversies surrounding double-outlet right ventricle. We show that hearts with double-outlet right ventricle can have atrioventricular-to-arterial valvular continuity...
March 23, 2017: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28527575/coup-tf-genes-human-diseases-and-the-development-of-the-central-nervous-system-in-murine-models
#5
Xiong Yang, Su Feng, Ke Tang
COUP-TFI and -TFII are members of the steroid/thyroid nuclear receptor superfamily. Recent clinical studies reveal that COUP-TFI gene mutations are associated with Bosch-Boonstra-Schaaf optic atrophy syndrome displaying symptoms of optic atrophy, intellectual disability, hypotonia, seizure, autism spectrum disorders, oromotor dysfunction, thin corpus callosum, or hearing defects, and COUP-TFII gene mutations lead to congenital heart defects and/or congenital diaphragmatic hernia with developmental delay and mental defects...
2017: Current Topics in Developmental Biology
https://www.readbyqxmd.com/read/28526506/investigating-the-causes-of-neurodevelopmental-deficits-in-congenital-heart-disease-through-multiple-gestations
#6
EDITORIAL
Ryan R Davies
No abstract text is available yet for this article.
March 19, 2017: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28526209/electroacupuncture-addition-to-the-anesthesia-care-of-pediatric-patients-for-congenital-heart-surgery
#7
David A Rosen, Kendra Unger, Robert A Gustafson, Christine Trieu, Lonnie K Zeltzer, Yuan-Chi Lin
No abstract text is available yet for this article.
February 8, 2017: Journal of Cardiothoracic and Vascular Anesthesia
https://www.readbyqxmd.com/read/28525297/association-analysis-of-nonsyndromic-congenital-heart-disease-and-tag-single-nucleotide-polymorphisms-of-tbx20-and-genes-in-the-ras-mapk-pathway
#8
Zhiling Luo, Yan Shen, Wei Chen, Xuejuan Ma, Liping Liu, Xiaoqin Huang, Zhaoqing Yang, Hao Sun
AIMS: The present study was performed to determine whether there are variants in TBX20 and genes of the Ras-MAPK pathway associated with nonsyndromic congenital heart disease (ns-CHD). MATERIALS AND METHODS: A total of 223 ns-CHD patients and 273 healthy controls from China were selected as study subjects to perform an association analysis using 22 tag single-nucleotide polymorphisms (tag SNPs) located either in one of three genes in the Ras-MAPK pathway (MAP2K2, BRAF, and RAF1) or the TBX20 gene that have previously been associated with syndromic congenital heart disease...
May 19, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28523852/preparing-adolescents-with-heart-problems-for-transition-to-adult-care-2009-2010-national-survey-of-children-with-special-health-care-needs
#9
Karrie F Downing, Matthew E Oster, Sherry L Farr
OBJECTIVE: A substantial percentage of children with congenital heart disease (CHD) fail to transfer to adult care, resulting in increased risk of morbidity and mortality. Transition planning discussions with a provider may increase rates of transfer, yet little is known about frequency and content of these discussions. We assessed prevalence and predictors of transition-related discussions between providers and parents of children with special healthcare needs (CSHCN) and heart problems, including CHD...
May 19, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28523472/assessment-of-coronary-artery-by-prospective-ecg-triggered-256-multi-slice-ct-on-children-with-congenital-heart-disease
#10
Li-Ping Yao, Li Zhang, Hui-Ming Li, Ming Ding, Ling-Wei Yu, Xin Yang, Xiao-Ming Li, Kun Sun
This study aims to investigate the imaging quality and radiation dose of prospective ECG-triggered 256 multi-slice computer tomography (MSCT) in accessing the coronary artery (CA) in children. Coronary arteries of 149 children were evaluated using prospective ECG-triggered 256 MSCT with the same system settings. A four-point scoring system was applied to study the capability of MSCT in detecting CA in these patients. Signal, noise and contrast-to-noise ratios (CNR) were analyzed to investigate the association of image quality with age...
May 18, 2017: International Journal of Cardiovascular Imaging
https://www.readbyqxmd.com/read/28523142/quality-of-life-an-underutilized-patient-reported-outcome-for-adults-with-congenital-heart-disease
#11
EDITORIAL
Sameh M Said, Joseph A Dearani
No abstract text is available yet for this article.
April 2017: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/28521893/pulmonary-hypertension-in-infants-children-and-young-adults
#12
REVIEW
Georg Hansmann
Pulmonary hypertension (PH) in neonates, infants, children, adolescents, and young adults is a complex condition that can be associated with several cardiac, pulmonary, and systemic diseases contributing to morbidity and mortality. The underlying pulmonary hypertensive vascular disease (PHVD) is characterized by inflammation, pulmonary vascular remodeling, and angio-obliteration leading to elevated pulmonary arterial pressure and resistance, right ventricular dysfunction, left ventricular compression, and subsequent heart failure...
May 23, 2017: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/28521042/induced-pluripotent-stem-cell-modelling-of-hlhs-underlines-the-contribution-of-dysfunctional-notch-signalling-to-impaired-cardiogenesis
#13
Chunbo Yang, Yaobo Xu, Min Yu, David Lee, Sameer Alharti, Nicola Hellen, Noor Ahmad Shaik, Babajan Banaganapalli, Hussein Ali Mohamoud Sheikh, Elango Ramu, Stefan Przyborski, Gennadiy Tenin, Simon Williams, John O'Sullivan, Osman O Al-Radi, Jameel Atta, Sian E Harding, Bernard Keavney, Majlinda Lako, Lyle Armstrong
Hypoplastic left heart syndrome (HLHS) is among the most severe forms of congenital heart disease. Although the consensus view is that reduced flow through the left heart during development is a key factor in the development of the condition, the molecular mechanisms leading to hypoplasia of left heart structures are unknown. We have generated induced pluripotent stem cells (iPSC) from five HLHS patients and two unaffected controls, differentiated these to cardiomyocytes and identified reproducible in vitro cellular and functional correlates of the HLHS phenotype...
May 17, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28520847/maternal-exposure-to-nitrogen-dioxide-intake-of-methyl-nutrients-and-congenital-heart-defects-in-offspring
#14
Jeanette A Stingone, Thomas J Luben, Suzan L Carmichael, Arthur S Aylsworth, Lorenzo D Botto, Adolfo Correa, Suzanne M Gilboa, Peter H Langlois, Wendy N Nembhard, Jennifer Richmond-Bryant, Gary M Shaw, Andrew F Olshan
Nutrients that regulate methylation processes may modify susceptibility to the effects of air pollutants. Data from the National Birth Defects Prevention Study, 1997-2006, were used to estimate associations between maternal exposure to nitrogen dioxide (NO2), dietary intake of methyl nutrients and the odds of congenital heart defects in offspring. NO2 concentrations, a marker of traffic-related air pollution, averaged across post-conception weeks 2-8, were assigned to 6160 non-diabetic mothers of cases and controls using inverse distance-squared weighting of air monitors within 50 km of maternal residence...
May 18, 2017: American Journal of Epidemiology
https://www.readbyqxmd.com/read/28520541/outcomes-and-prognostic-factors-for-adult-patients-with-congenital-heart-disease-undergoing-primary-or-reoperative-systemic-atrioventricular-valve-surgery
#15
Elizabeth H Stephens, Jiho Han, Jonathan Ginns, Marlon Rosenbaum, Paul Chai, Emile Bacha, David Kalfa
BACKGROUND: Adults with congenital heart disease (ACHD) undergoing systemic atrioventricular valve (SAVV) surgery are a complex, understudied population. We assessed midterm outcomes and prognostic factors in ACHD undergoing SAVV surgery. METHODS: We performed retrospective evaluation of ACHD undergoing SAVV surgery from January 2005 to February 2016: 14 (33%) patients with congenital mitral valve stenosis/regurgitation, 15 (35%) with atrioventricular septal defect (AVSD), and 14 (33%) with congenitally corrected transposition of the great arteries (ccTGA) with systemic tricuspid valve regurgitation...
May 2017: World Journal for Pediatric & Congenital Heart Surgery
https://www.readbyqxmd.com/read/28517030/gerbode-defect-and-multivalvular-dysfunction-complex-complications-in-adult-congenital-heart-disease
#16
Catarina Ruivo, Joana Guardado, Fernando Montenegro Sá, Fátima Saraiva, Alexandre Antunes, Joana Correia, João Morais
We report a clinical case of a 40-year-old male with surgically corrected congenital heart disease (CHD) 10 years earlier: closure of ostium primum, mitral annuloplasty, and aortic valve and root surgery. The patient was admitted with acute heart failure. Transesophageal echocardiography (TEE) revealed a dysmorphic and severely incompetent aortic valve, a partial tear of the mitral valve cleft repair and annuloplasty ring dehiscence. A true left ventricular-to-right atrial shunt confirmed a direct Gerbode defect...
May 18, 2017: Echocardiography
https://www.readbyqxmd.com/read/28515796/genetic-heterogeneity-of-patients-with-suspected-silver-russell-syndrome-genome-wide-copy-number-analysis-in-82-patients-without-imprinting-defects
#17
Takanobu Inoue, Akie Nakamura, Tomoko Fuke, Kazuki Yamazawa, Shinichiro Sano, Keiko Matsubara, Seiji Mizuno, Yoshika Matsukura, Chie Harashima, Tatsuji Hasegawa, Hisakazu Nakajima, Kumi Tsumura, Zenro Kizaki, Akira Oka, Tsutomu Ogata, Maki Fukami, Masayo Kagami
BACKGROUND: Silver-Russell syndrome (SRS) is a rare congenital disorder characterized by pre- and postnatal growth failure and dysmorphic features. Recently, pathogenic copy number variations (PCNVs) and imprinting defects other than hypomethylation of the H19-differentially methylated region (DMR) and maternal uniparental disomy chromosome 7 have been reported in patients with the SRS phenotype. This study aimed to clarify the frequency and clinical features of patients with SRS phenotype caused by PCNVs...
2017: Clinical Epigenetics
https://www.readbyqxmd.com/read/28515759/department-of-pediatric-cardiac-surgery-in-gdansk-in-its-new-location-previous-activity-and-perspectives-for-development
#18
Ireneusz Haponiuk, Maciej Chojnicki, Mariusz Steffens, Radosław Jaworski, Aneta Szofer-Sendrowska, Konrad Paczkowski, Ewelina Kwaśniak, Anna Romanowicz, Wiktor Szymanowicz, Katarzyna Gierat-Haponiuk
The Department of Pediatric Cardiac Surgery in Gdansk is the only pediatric cardiac surgery center in northern Poland providing comprehensive treatment to children with congenital heart defects. The Department of Pediatric Cardiac Surgery in Gdansk currently offers a full spectrum of advanced procedures of modern cardiac surgery and interventional cardiology dedicated to patients from infancy to adolescence. January 19, 2016 marked the official opening of its new location.
March 2017: Kardiochirurgia i Torakochirurgia Polska, Polish Journal of Cardio-Thoracic Surgery
https://www.readbyqxmd.com/read/28515589/spectrum-of-pulmonary-valve-morphology-and-its-relationship-to-pulmonary-trunk-in-tetralogy-of-fallot
#19
Binita R Chacko, George K Chiramel, Leena R Vimala, Devi A Manuel, Elizabeth Joseph, K Reka
BACKGROUND: Tetralogy of Fallot (TOF) is a complex congenital heart disease with anatomic variations. Although the pulmonary valve in TOF is abnormal, it has not been studied well, especially on newer imaging modalities such as multidetector computed tomography (CT), which gives excellent anatomic detail. AIMS: The aim of this study was to assess the morphology of pulmonary valve in TOF on CT and evaluate its association with the degree of hypoplasia of infundibulum and pulmonary trunk...
January 2017: Indian Journal of Radiology & Imaging
https://www.readbyqxmd.com/read/28515370/acute-kidney-injury-following-cardiopulmonary-bypass-in-children%C3%A3-risk-factors-and-outcomes
#20
Seon Hwa Lee, Soo-Jin Kim, Hyung Joong Kim, Jae Sung Son, Ran Lee, Tae Gyoon Yoon
BACKGROUND: Acute kidney injury (AKI) is the most common and most serious complication following heart surgery. We aimed to determine the prevalence of, and risk factors for, AKI following pediatric cardiac surgery.Methods and Results:We retrospectively analyzed 135 patients aged ≤18 years who underwent cardiac surgery for congenital heart defects; by RACHS-1 category, 58 patients (43%) had an operative risk score ≥3. AKI was defined and classified using the pediatric pRIFLE criteria (Pediatric Risk, Injury, Failure, Loss, and End-stage Kidney Disease); 19 patients (14...
May 17, 2017: Circulation Journal: Official Journal of the Japanese Circulation Society
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