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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/28528718/double-outlet-right-ventricle-revisited
#2
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/28520541/outcomes-and-prognostic-factors-for-adult-patients-with-congenital-heart-disease-undergoing-primary-or-reoperative-systemic-atrioventricular-valve-surgery
#3
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
#4
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/28515589/spectrum-of-pulmonary-valve-morphology-and-its-relationship-to-pulmonary-trunk-in-tetralogy-of-fallot
#5
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/28515127/a-retrospective-analysis-of-mitral-valve-pathology-in-the-setting-of-bicuspid-aortic-valves
#6
Annari van Rensburg, Philip Herbst, Anton Doubell
The therapeutic implications of bicuspid aortic valve associations have come under scrutiny in the transcatheter aortic valve implantation era. We evaluate the spectrum of mitral valve disease in patients with bicuspid aortic valves to determine the need for closer echocardiographic scrutiny/follow-up of the mitral valve. A retrospective analysis of echocardiograms done at a referral hospital over five years was conducted in patients with bicuspid aortic valves with special attention to congenital abnormalities of the mitral valve...
May 17, 2017: Echo Research and Practice
https://www.readbyqxmd.com/read/28507990/development-of-an-online-evidence-based-patient-information-portal-for-congenital-heart-disease-a-pilot-study
#7
Jonathan R G Etnel, Arie P J van Dijk, Jolanda Kluin, Robin A Bertels, Elisabeth M W J Utens, Eugene van Galen, Ad J J C Bogers, Johanna J M Takkenberg
OBJECTIVES: In response to an increased need for patient information on congenital heart disease in the Netherlands, we initiated a nationwide initiative to develop an online, evidence-based patient information portal, starting with a pilot project aimed at the subgroup of patients with congenital aortic and pulmonary valve disease. METHODS AND RESULTS: We developed an information portal that aims to (1) improve patient knowledge and involvement and to subsequently reduce anxiety and decisional conflict and improve mental quality of life and (2) to support physicians in informing and communicating with their patients...
2017: Frontiers in Cardiovascular Medicine
https://www.readbyqxmd.com/read/28506649/dose-optimization-in-cardiac-ct
#8
REVIEW
Sandeep Hedgire, Brian Ghoshhajra, Mannudeep Kalra
Rapid progress in the field of Cardiac CT is fostered by the advances in CT scanner technology as well as multiple clinical trials demonstrating its role in coronary artery disease and other indications like congenital heart disease, pulmonary vein assessment and pre transcatheter aortic valve replacement. The cardiovascular imager today is responsible for delivering diagnostic image quality while striking a balance with optimized radiation dose. Radiation dose is the result of multiple scanner and patient related factors...
May 12, 2017: Physica Medica: PM
https://www.readbyqxmd.com/read/28503552/impact-of-isolated-tricuspid-valve-repair-on-right-ventricular-remodelling-in-an-adult-congenital-heart-disease-population
#9
Roberto Marsico, Vito Domenico Bruno, Pierpaolo Chivasso, Anna Baritussio, Filippo Rapetto, Gustavo A Guida, Umberto Benedetto, Massimo Caputo
BACKGROUND: Surgical repair of isolated congenital tricuspid valve (TV) disease is rare with no well-defined indication and outcomes. Moreover, the role of right ventricle (RV) in this context has not yet been investigated. OBJECTIVES: We sought to assess the impact of congenital TV repair on cardiac remodelling and clinical-functional status and the importance of the RV function in an adult congenital heart disease (ACHD) population. METHODS AND RESULTS: From January 2005 to December 2015, 304 patients underwent TV surgery in our centre...
2017: Frontiers in Cardiovascular Medicine
https://www.readbyqxmd.com/read/28503410/the-ideal-substitute-for-tricuspid-valve-replacement-in-patients-with-congenital-heart-disease-an-unsolved-dilemma
#10
EDITORIAL
Andrea Garatti, Alessandro Giamberti, Alessandro Frigiola, Lorenzo Menicanti
No abstract text is available yet for this article.
April 2017: Translational pediatrics
https://www.readbyqxmd.com/read/28492786/the-brazilian-registry-of-adult-patient-undergoing-cardiovascular-surgery-the-bypass-project-results-of-the-first-1-722-patients
#11
Walter J Gomes, Rita Simone Moreira, Alexandre Cabral Zilli, Luiz Carlos Bettiati, Fernando Augusto Marinho Dos Santos Figueira, Stephanie Steremberg Pires D' Azevedo, Marcelo José Ferreira Soares, Marcio Pimentel Fernandes, Roberto Vito Ardito, Renata Andrea Barberio Bogdan, Valquíria Pelisser Campagnucci, Diana Nakasako, Renato Abdala Karam Kalil, Clarissa Garcia Rodrigues, Anilton Bezerra Rodrigues, Marcelo Matos Cascudo, Fernando Antibas Atik, Elson Borges Lima, Vinicius José da Silva Nina, Renato Albuquerque Heluy, Lisandro Gonçalves Azeredo, Odilon Silva Henrique, José Teles de Mendonça, Katharina Kelly de Oliveira Gama Silva, Marcelo Pandolfo, José Dantas de Lima, Renato Max Faria, Jonas Pereira Dos Santos, Rodrigo Pereira Paez, Guilherme Henrique Biachi Coelho, Sergio Nunes Pereira, Roberta Senger, Enio Buffolo, Guido Marco Caputi, José Amalth do Espírito Santo, Juliana Aparecida Borges de Oliveira, Otavio Berwanger, Alexandre Biasi Cavalcanti, Fabio B Jatene
Objective: To report the early results of the BYPASS project - the Brazilian registrY of adult Patient undergoing cArdiovaScular Surgery - a national, observational, prospective, and longitudinal follow-up registry, aiming to chart a profile of patients undergoing cardiovascular surgery in Brazil, assessing the data harvested from the initial 1,722 patients. Methods: Data collection involved institutions throughout the whole country, comprising 17 centers in 4 regions: Southeast (8), Northeast (5), South (3), and Center-West (1)...
March 2017: Brazilian Journal of Cardiovascular Surgery
https://www.readbyqxmd.com/read/28482820/the-changing-epidemiology-and-clinical-features-of-infective-endocarditis-a-retrospective-study-of-196-episodes-in-a-teaching-hospital-in-china
#12
Wan Zhu, Qian Zhang, Jingping Zhang
BACKGROUND: Infective endocarditis is an uncommon but life-threatening infectious disease. To our knowledge, current investigations of the characteristics of infective endocarditis in our region are scarce. In this study, we aimed to investigate the changes in the epidemiology and clinical features of infective endocarditis. METHODS: A retrospective analysis of clinical data was performed using 196 infective endocarditis cases diagnosed between June 2004 and December 2012 at The First Affiliated Hospital of China Medical University...
May 8, 2017: BMC Cardiovascular Disorders
https://www.readbyqxmd.com/read/28475458/mda5-associated-neuroinflammation-and-the-singleton-merten-syndrome-two-faces-of-the-same-type-i-interferonopathy-spectrum
#13
Insa Buers, Gillian I Rice, Yanick J Crow, Frank Rutsch
In 1973, Singleton and Merten described a new syndrome in 2 female probands with aortic and cardiac valve calcifications, early loss of secondary dentition, and widened medullary cavities of the phalanges. In 1984, Aicardi and Goutières defined a phenotype resembling congenital viral infection with basal ganglia calcification and increased protein content in the cerebrospinal fluid. Between 2006 and 2012, mutations in 6 different genes were described to be associated with Aicardi-Goutières syndrome, specifically-TREX1, RNASEH2A, RNASEH2B, RNASEH2C, ADAR, and SAMHD1...
May 2017: Journal of Interferon & Cytokine Research
https://www.readbyqxmd.com/read/28469692/complex-ebstein-s-anomaly-in-an-86-year-old-iranian-man-a-case-report
#14
Bahieh Moradi, Farideh Roshanali
Ebstein's anomaly is defined as the significant apical displacement of the tricuspid valve causing tricuspid regurgitation. Although a variety of concomitant lesions have been previously described, we herein introduce an unusual presentation. Our patient was an 86-year-old man with a primary presentation of typical chest pain in the setting of recently diagnosed coronary artery disease with concomitant Ebstein's anomaly. We found mild-to-moderate tricuspid regurgitation, bicuspid aortic valve, persistent left superior vena cava, and patent foramen ovale...
January 2017: Journal of Tehran Heart Center
https://www.readbyqxmd.com/read/28469078/mir-21-is-associated-with-fibrosis-and-right-ventricular-failure
#15
Sushma Reddy, Dong-Qing Hu, Mingming Zhao, Eddie Blay, Nefthi Sandeep, Sang-Ging Ong, Gwanghyun Jung, Kristina B Kooiker, Michael Coronado, Giovanni Fajardo, Daniel Bernstein
Combined pulmonary insufficiency (PI) and stenosis (PS) is a common long-term sequela after repair of many forms of congenital heart disease, causing progressive right ventricular (RV) dilation and failure. Little is known of the mechanisms underlying this combination of preload and afterload stressors. We developed a murine model of PI and PS (PI+PS) to identify clinically relevant pathways and biomarkers of disease progression. Diastolic dysfunction was induced (restrictive RV filling, elevated RV end-diastolic pressures) at 1 month after generation of PI+PS and progressed to systolic dysfunction (decreased RV shortening) by 3 months...
May 4, 2017: JCI Insight
https://www.readbyqxmd.com/read/28466690/a-unique-intracardiac-shunt-identifying-complex-anatomy-in-reoperative-adult-congenital-heart-disease
#16
Billie-Jean Martin, Ivan M Rebeyka, Jeffrey F Smallhorn, Dylan A Taylor, Isabelle F Vonder Muhll
Adult patients with repaired congenital heart disease are presenting with previously unseen types of residual lesions and consequences of prior repair. Patients with d-transposition of the great arteries repaired with atrial switch operations are returning with dysrhythmias and atrioventricular valve disease requiring intervention. We present the challenging case of a young adult with a residual shunt identified on preoperative three-dimensional transthoracic echocardiography, the precise anatomy of which was only characterized intraoperatively...
January 1, 2017: World Journal for Pediatric & Congenital Heart Surgery
https://www.readbyqxmd.com/read/28460773/the-development-of-pacing-induced-ventricular-dysfunction-is-influenced-by-the-underlying-structural-heart-defect-in-children-with-congenital-heart-disease
#17
Seshadri Balaji, Narayanswami Sreeram
BACKGROUND: Right ventricular pacing can cause pacing-induced ventricular dysfunction (PIVD) correctable with biventricular pacing (BiVP). Factors associated with PIVD are poorly understood. METHODS: We reviewed children receiving epicardial dual-chamber pacemakers for complete heart block (CHB) after congenital heart disease (CHD) surgery. PIVD was defined as% fractional shortening <15% improving after BiVP. RESULTS: Between 2005 and 2014, 47 children <2years developed CHB after CHD surgery...
March 2017: Indian Heart Journal
https://www.readbyqxmd.com/read/28451018/infective-endocarditis-in-principal-hospital-of-dakar-a-retrospective-study-of-42-cases-over-10-years
#18
Djibril Marie Ba, Mouhamed Cherif Mboup, Nafissatou Zeba, Khadidiatou Dia, Awa Ndaw Fall, Fatou Fall, Pape Diadie Fall, Sara Boury Gning
Infective Endocarditis (IE) is an endocardial infection usually caused by bacteria that affects not only the native heart valves but also, with increasing frequency intravascular implanted devices and congenital heart diseases. Despite medical advances, IE remains a life-threatening disease with substantial morbidity and mortality. In Africa, its diagnosis and treatment are still a major challenge in clinical practice. The objective of this work was to study the epidemiological, clinical features, diagnostic techniques currently used in medical practice and the range of micro-organisms that are responsible...
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28430286/clinical-presentation-and-outcomes-of-patients-with-acute-rheumatic-fever-and-rheumatic-heart-disease-seen-at-a-tertiary-hospital-setting-in-port-elizabeth-south-africa
#19
Zongezile Masonwabe Makrexeni, Lungile Pepeta
BACKGROUND: The incidence of acute rheumatic fever (ARF) and rheumatic heart disease (RHD) has waned in Western countries, however that is not the situation in developing nations. METHODS: Records were reviewed of patients from the Eastern Cape municipal districts who presented to the Paediatric Cardiology Unit with ARF and RHD from January 2008 to August 2015. RESULTS: Total of 56 patients with ARF/RHD was reviewed. The majority of patients (n = 52) presented for the first time with RHD...
April 20, 2017: Cardiovascular Journal of Africa
https://www.readbyqxmd.com/read/28427801/-multimodality-imaging-in-the-cardiac-catheterization-laboratory
#20
Karine Warin-Fresse, Sébastien Hascoet, Patrice Guérin
Cardiac catheterization has greatly contributed to the progress made in the management of congenital heart diseases (CHD). Initially used in diagnosis, it allowed the understanding of heart diseases, their anatomy and hemodynamics. Gradually, the development of interventional cardiology has played a major role in the management of these malformations (Patent ductus arteriosus [PDA] and atrial septal defect [ASD] closure, pulmonary dilatation, percutaneous pulmonary valve implantation…). The development of such technology was made possible through the concomitant development of imaging techniques: fluoroscopy, ultrasound, MRI and CT...
April 17, 2017: La Presse Médicale
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