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Congenital Heart Disease

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https://www.readbyqxmd.com/read/28326674/whole-exome-sequencing-with-genomic-triangulation-implicates-cdh2-encoded-n-cadherin-as-a-novel-pathogenic-substrate-for-arrhythmogenic-cardiomyopathy
#1
Kari L Turkowski, David J Tester, J Martijn Bos, Kristina H Haugaa, Michael J Ackerman
BACKGROUND: Arrhythmogenic cardiomyopathy (ACM) is a heritable disease characterized by fibrofatty replacement of cardiomyocytes, has a prevalence of approximately 1 in 5000 individuals, and accounts for approximately 20% of sudden cardiac death in the young (≤35 years). ACM is most often inherited as an autosomal dominant trait with incomplete penetrance and variable expression. While mutations in several genes that encode key desmosomal proteins underlie about half of all ACM, the remainder is elusive genetically...
March 21, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28299882/systolic-ejection-click-versus-split-first-heart-sound-are-our-ears-deceiving-us
#2
Natalie M Hoeting, Courtney E McCracken, Michael McConnell, Denver Sallee, Glen J Iannucci, Matthew E Oster
OBJECTIVE: Bicuspid aortic valve (BAV) disease is associated with potential lifetime complications, but auscultation of a BAV click is commonly missed or mistaken for a benign split first heart sound. Our objective was to determine whether pediatric cardiologists could reliably distinguish between BAV clicks and benign split first heart sounds. DESIGN: Quality evaluation project using de-identified recordings from an outpatient pediatric cardiology clinic. OUTCOME MEASURES: Twenty-one cardiologists listened to five de-identified recordings of pediatric heart sounds (three with BAV clicks, two with mitral components of benign split first heart sounds) and indicated whether they believed each recording was a BAV or split first heart sound...
March 16, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28299880/rates-of-autism-and-potential-risk-factors-in-children-with-congenital-heart-defects
#3
Jessica L Bean Jaworski, Thomas Flynn, Nancy Burnham, Jesse L Chittams, Therese Sammarco, Marsha Gerdes, Judy C Bernbaum, Robert R Clancy, Cynthia B Solot, Elaine H Zackai, Donna M McDonald-McGinn, J William Gaynor
OBJECTIVE: Atypical development, behavioral difficulties, and academic underachievement are common morbidities in children with a history of congenital heart defects and impact quality of life. Language and social-cognitive deficits have been described, which are associated with autism spectrum disorders. The current study aimed to assess the rates of autism spectrum disorders in a large sample of children with a history of congenital heart defects and to assess medical, behavioral, and individual factors that may be associated with the risk of autism spectrum disorders...
March 16, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28294539/angiographically-detectable-thebesian-veins-are-a-dynamic-and-reversible-finding-in-the-setting-of-congenital-heart-disease
#4
Paul Tannous, Sunil J Ghelani, Audrey C Marshall, Diego Porras
OBJECTIVE: Angiographically detectable Thebesian veins (ThVs) are a rare finding sometimes associated with coronary steal and myocardial ischemia in adults, but there are limited data regarding prominent ThVs in the setting of complex congenital heart disease (CHD). This study represents the largest series to date describing the presence and temporal changes of angiographically detectable ThVs in children with CHD. METHODS: This is a single center case series describing the clinical characteristics and coronary anatomy in children with CHD and angiographicall detectable ThVs...
March 10, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28244680/dysphagia-in-infants-with-single-ventricle-anatomy-following-stage-1-palliation-physiologic-correlates-and-response-to-treatment
#5
Katlyn Elizabeth McGrattan, Heather McGhee, Allan DeToma, Elizabeth G Hill, Sinai C Zyblewski, Maureen Lefton-Greif, Lucinda Halstead, Scott M Bradley, Bonnie Martin-Harris
BACKGROUND: Deficits in swallowing physiology are a leading morbidity for infants with functional single ventricles and systemic outflow tract obstruction following stage 1 palliation. Despite the high prevalence of this condition, the underlying deficits that cause this post-operative impairment remain poorly understood. OBJECTIVE: Identify the physiologic correlates of dysphagia in infants with functional single ventricles and systemic outflow tract obstruction following stage 1 palliative surgery...
February 28, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28240408/tilt-table-testing-to-diagnose-pseudosyncope-in-the-pediatric-population
#6
Jeffrey A Robinson, Jill K Shivapour, Christopher S Snyder
OBJECTIVE: Pseudosyncope can be difficult to distinguish from true syncope. Often, pediatric patients with pseudosyncope undergo multiple tests and referrals before the appropriate diagnosis is reached. The purpose is to describe the utility of the head-up tilt table test to elicit the diagnosis of pseudosyncope in the pediatric population. DESIGN: Retrospective chart review from November 2012 to December 2015 of patients age ≤23 years referred for 30-minute, 80-degree tilt table test...
February 27, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28225219/educational-intervention-for-improving-the-appropriateness-of-transthoracic-echocardiograms-ordered-by-pediatric-cardiologists
#7
Ritu Sachdeva, Pamela S Douglas, Michael S Kelleman, Courtney E McCracken, Leo Lopez, Kenan W D Stern, Benjamin W Eidem, Oscar J Benavidez, Rory B Weiner, Elizabeth Welch, Robert M Campbell, Wyman W Lai
OBJECTIVE: The objective of this study was to evaluate effectiveness of educational intervention (EI) in the Pediatric Appropriate Use of Echocardiography (PAUSE) study to improve appropriateness of transthoracic echocardiograms (TTEs) ordered in pediatric cardiology clinics. DESIGN: Data were prospectively collected after the publication of the Appropriate Use Criteria (AUC) document during 2 phases: the pre-EI phase (1/1/15 to 4/30/15) and the post-EI phase (7/1/15 to 10/30/15)...
February 22, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28225206/a-great-imitator-in-adult-cardiology-practice-congenitally-corrected-transposition-of-the-great-arteries
#8
Anushree Agarwal, Fatima Samad, Lindsey Kalvin, Michelle Bush, A Jamil Tajik
INTRODUCTION: Congenitally corrected transposition of the great arteries (ccTGA) is a rare congenital disease that frequently remains undiagnosed until adulthood, especially when there is an absence of other congenital anomalies. Adults with ccTGA may remain asymptomatic and their diagnosis could be missed on initial evaluation, or it could be diagnosed incidentally as an evaluation of murmur. We aim to report the different presentations of ccTGA in eight adult patients and review the key features required to suspect the diagnosis during an initial visit...
February 22, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28225202/cardiac-remodeling-in-preterm-infants-with-prolonged-exposure-to-a-patent-ductus-arteriosus
#9
Koert de Waal, Nilkant Phad, Nick Collins, Andrew Boyle
BACKGROUND: Sustained volume load due to a patent ductus arteriosus (PDA) leads to cardiac remodeling. Remodeling changes can become pathological and are associated with cardiovascular disease progression. Data on remodeling changes in preterm infants is not available. METHODS: Clinical and echocardiography data were collected in preterm infants <30 weeks gestation on postnatal day 3 and then every 7-14 days until closure of the ductus arteriosus. Images were analyzed using conventional techniques and speckle tracking...
February 22, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28217850/correlates-of-posttraumatic-stress-disorder-in-adults-with-congenital-heart-disease
#10
Bahareh Eslami
OBJECTIVE: The aims of this study were to compare the level of posttraumatic stress disorder between adults with and without congenital heart disease, and to examine the correlates of posttraumatic stress disorder (e.g., sociodemographics). DESIGN: Cross-sectional. SETTING: Two university-affiliated heart hospitals in Tehran, Iran. PATIENTS: A sample of 347 adults with congenital heart disease aged 18-64 years (52% women), and 353 adults without congenital heart disease matched by sex and age (±2 years) was recruited...
February 20, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28211263/increased-regurgitant-flow-causes-endocardial-cushion-defects-in-an-avian-embryonic-model-of-congenital-heart-disease
#11
Stephanie M Ford, Matthew T McPheeters, Yves T Wang, Pei Ma, Shi Gu, James Strainic, Christopher Snyder, Andrew M Rollins, Michiko Watanabe, Michael W Jenkins
BACKGROUND: The relationship between changes in endocardial cushion and resultant congenital heart diseases (CHD) has yet to be established. It has been shown that increased regurgitant flow early in embryonic heart development leads to endocardial cushion defects, but it remains unclear how abnormal endocardial cushions during the looping stages might affect the fully septated heart. The goal of this study was to reproducibly alter blood flow in vivo and then quantify the resultant effects on morphology of endocardial cushions in the looping heart and on CHDs in the septated heart...
February 17, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28205344/utility-of-a-standardized-postcardiopulmonary-bypass-epicardial-echocardiography-protocol-for-stage-i-norwood-palliation
#12
Kenan W D Stern, Kimberlee Gauvreau, Sitaram Emani, Tal Geva
OBJECTIVE: Stage 1 Norwood palliation is one of the highest risk procedures in congenital cardiac surgery. Patients with superior technical performance scores have more favorable outcomes. Intraoperative epicardial echocardiography may allow the surgeon to address residual lesions prior to leaving the operating room, resulting in improved technical performance. The ability of intraoperative epicardial echocardiography to visualize the relevant anatomy and its association with outcomes is not known...
February 16, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28199048/practice-variability-in-management-of-infectious-issues-in-heterotaxy-a-survey-of-pediatric-cardiologists
#13
Rohit S Loomba, Gabrielle Geddes, Amanda J Shillingford, David A Hehir
BACKGROUND: Splenic dysfunction is common in heterotaxy syndrome, and increases the risk of bacteremia and bacteremia related mortality. Despite the risks associated with bacteremia in this setting, best practice guidelines for management of infectious concerns are lacking. We conducted a survey of pediatric cardiologists to characterize practice regarding the diagnosis of splenic dysfunction, approach to antibiotic prophylaxis, and management of possible bacterial infection. METHODS: A 22-item web-based survey was distributed via email to pediatric cardiologists in North America...
February 15, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28140526/surveillance-for-liver-complications-after-the-fontan-procedure
#14
REVIEW
Moira B Hilscher, Jonathan N Johnson, Frank Cetta, David J Driscoll, John J Poterucha, William Sanchez, Heidi M Connolly, Patrick S Kamath
The physiological consequences of the Fontan circulation impose risk for hepatic dysfunction and may culminate in hepatic fibrosis, cirrhosis, and hepatocellular carcinoma. Consensus regarding appropriate surveillance modalities to diagnose liver disease in Fontan patients is lacking, in part due to the relative lack of strong evidence and prospective studies in this patient population. The goal of this paper is to critically review the current evidence and provide recommendations for the surveillance of hepatic complications in the post-Fontan patient population...
January 31, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28140523/tissue-plasminogen-activator-for-neonatal-coronary-thrombosis-presenting-with-mitral-valve-regurgitation-and-impaired-ventricular-function
#15
Delaram Molkara, Jose A Silva Sepulveda, Thomas Do, Christopher Davis, Gregory P Goldstein, John W Moore, Howaida G El-Said
OBJECTIVE: Neonatal coronary thrombosis is a rarely reported disorder, with variable outcomes described. This study assessed the feasibility and safety of an institutional protocol using tissue plasminogen activator (tPA) administration for the treatment of neonatal coronary artery thrombi. METHODS: They reviewed the outcome of three neonates with clinical evidence of myocardial infarction secondary to coronary thrombosis. All three underwent the tPA treatment protocol...
January 31, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28121380/practice-trends-over-time-in-the-care-of-infants-with-hypoplastic-left-heart-syndrome-a-report-from-the-national-pediatric-cardiology-quality-improvement-collaborative
#16
Waldemar F Carlo, James F Cnota, Robert J Dabal, Jeffrey B Anderson
OBJECTIVE: The National Pediatric Cardiology Quality Improvement Collaborative (NPC-QIC) was established in 2008 to improve outcomes of hypoplastic left heart syndrome (HLHS) during the interstage period. They evaluated changes in patient variables and practice variation between early and late eras. DESIGN: Data including demographic, operative, discharge, and follow-up variables from the first 100 patients (6/2008-1/2010) representing 18 centers were compared with the most recent 100 patients (1/2014-11/2014) from these same centers...
January 25, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28092429/residents-understanding-of-adult-congenital-heart-disease
#17
Paul Cooper, Morgan Hindes, Timothy M Maul, Stephen C Cook
OBJECTIVE: Medical residents are exposed to increasing numbers of adults with congenital heart disease (ACHD). While inadequate ACHD knowledge may lead to inappropriate practice, this educational deficit has not been investigated. Our aim was to analyze residents' attitudes, perceived ability, and knowledge of ACHD medicine. DESIGN, METHODS, OUTCOME MEASURES: A single center, multiprogram cross-sectional study was conducted in 2015 using an electronic survey to assess 472 medical residents' perceived knowledge and self-assessed skills related to ACHD medicine...
January 16, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28160455/guest-editorials-for-the-coming-year
#18
EDITORIAL
Douglas S Moodie
No abstract text is available yet for this article.
January 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/27992675/readmissions-after-adult-congenital-heart-surgery-frequency-and-risk-factors
#19
Yuli Y Kim, Wei He, Thomas E MacGillivray, Oscar J Benavidez
OBJECTIVE: Despite their clinical importance, 30-day readmission after adult congenital heart surgery has been understudied. They sought to determine the frequency of unplanned readmissions after adult congenital heart surgery and to identify any potential associated risk factors. DESIGN: Retrospective cohort study using State Inpatient Databases for Washington, New York, Florida, and California from 2009 to 2011. SETTING: Federal and nonfederal acute care hospitals...
December 19, 2016: Congenital Heart Disease
https://www.readbyqxmd.com/read/27957813/neurocognitive-functioning-in-adults-with-congenital-heart-disease
#20
Dawn Ilardi, Kim E Ono, Rebecca McCartney, Wendy Book, Anthony Y Stringer
OBJECTIVE: Adults with congenital heart disease (CHD) are at increased risk of psychological disorders and cognitive deficiencies due to structural/acquired neurological abnormalities and neurodevelopmental disorders as children. However, limited information is known about the neuropsychological functioning of adults with CHD. This study screened neuropsychological abilities and explored group differences related to cardiac disease severity and neurological risk factors in adults with CHD...
December 13, 2016: Congenital Heart Disease
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