Aaron R. Prosnitz¹, Jane Leopold², Mira Irons³, Kathy Jenkins¹, Amy E. Roberts¹

Congenital Heart Disease, Vol.12, No.4, pp. 475-483, 2017, DOI:10.1111/chd.12471

Abstract Objective: To describe a group of children with co-incident pulmonary vein stenosis and SmithLemli-Opitz syndrome and to generate hypotheses as to the shared pathogenesis of these disorders.
Design: Retrospective case series.
Patients: Five subjects in a pulmonary vein stenosis cohort of 170 subjects were diagnosed with Smith-Lemli-Opitz syndrome soon after birth.
Results: All five cases were diagnosed with Smith-Lemli-Opitz syndrome within 6 weeks of life, with no family history of either disorder. All cases had pathologically elevated 7-dehydrocholesterol levels and two of the five cases had previously reported pathogenic 7-dehydrocholesterol reductase mutations. Smith-Lemli-Opitz syndrome severity scores ranged from mild to… More >

Katie E. Cohen¹, Matthew W. Buelow¹, Jennifer Dixon¹, Ruta Brazauskas², Scott B. Cohen³, Michael G. Earing^1,3, Salil Ginde¹

Congenital Heart Disease, Vol.12, No.4, pp. 435-440, 2017, DOI:10.1111/chd.12470

Abstract Objective: Abnormal lung function characterized by a reduced forced vital capacity (FVC) is common in adults with repaired tetralogy of Fallot (TOF) and is associated with previous thoracotomies and sternotomies. The impact of abnormal lung function on clinical outcomes in adult patients with repaired TOF is unclear. The aim of this study was to determine the impact of abnormal lung function on the outcome of hospitalization and death in adults with repaired TOF when analyzed with other traditional cardiac risk factors.
Design: Retrospective study of adults with repaired TOF, who underwent spirometry between 2000 and 2014. FVC < 60% of… More >

Sarah A. Twichell¹, Corinna J. Rea¹, Patrice Melvin², Andrew J. Capraro¹, Joshua C. Mandel¹, Michael A. Ferguson¹, Daniel J. Nigrin¹, Kenneth D. Mandl¹, Dionne Graham², Justin P. Zachariah³

Congenital Heart Disease, Vol.12, No.4, pp. 484-490, 2017, DOI:10.1111/chd.12469

Abstract Background: Recognition of high blood pressure (BP) in children is poor, partly due to the need to compute age-sex-height referenced percentiles. This study examined the change in abnormal BP recognition before versus after the introduction of an electronic health record (EHR) app designed to calculate BP percentiles with a training lecture.
Methods and results: Clinical data were extracted on all ambulatory, non-urgent encounters for children 3–18 years old seen in primary care, endocrinology, cardiology, or nephrology clinics at an urban, academic hospital in the year before and the year after app introduction. Outpatients with at least 1 BP above the… More >

Tarek Alsaied¹, Jouke P. Bokma², Mark E. Engel³, Joey M. Kuijpers², Samuel P. Hanke¹, Liesl Zuhlke⁴, Bin Zhang⁵, Gruschen R. Veldtman⁶

Congenital Heart Disease, Vol.12, No.4, pp. 393-398, 2017, DOI:10.1111/chd.12468

Abstract Background: Reported long-term outcome measures vary greatly between studies in Fontan patients making comprehensive appraisal of mortality hazard challenging. We sought to create a clinical risk score to assist monitoring of Fontan patients in the outpatient setting.
Methods: A systematic review was conducted to evaluate risk factors for long-term (beyond the first postoperative year) mortality in Fontan patients. Studies were eligible for inclusion if ≥90 patients were included or ≥20 long-term mortalities we reported. Risk factors for long-term mortality were determined. The pooled hazard ratios were used to create components of a clinical score for long-term mortality using meta-analysis techniques.
… More >

Amitabh Thacoor

Congenital Heart Disease, Vol.12, No.4, pp. 430-434, 2017, DOI:10.1111/chd.12467

Abstract Marfan syndrome is a multisystemic genetic condition affecting connective tissue. It carries a reduced life expectancy, largely dependent on cardiovascular complications. More common cardiac manifestations such as aortic dissection and aortic valve incompetence have been widely documented in the literature. Mitral valve prolapse (MVP), however, has remained poorly documented. This article aims at exploring the existing literature on the pathophysiology and diagnosis of MVP in patients with Marfan syndrome, defining its current management and outlining the future developments surrounding it. More >

Jana Rubáčková Popelová, MD1,2 | Markéta Tomková1,3 | Jakub Tomek1,4

Congenital Heart Disease, Vol.12, No.4, pp. 448-457, 2017, DOI:10.1111/chd.12466

Abstract Objective: The patients after Mustard and Senning corrections of transposition of the great arteries (TGA) are at an increased risk of unexpected death. The aim of this study was to identify markers allowing risk stratification of patients after atrial switch correction of TGA to provide them with optimum care.
Methods and Results: In this study, 87 patients were retrospectively evaluated after atrial switch correction of TGA followed-up between 2005 and 2015. The mortality during the follow-up was 9% (8 cardiac deaths). Markers significantly predictive of death using univariable Cox proportional hazard ratio survival analysis were: N-terminal pro-B-type natriuretic peptide (NT-proBNP),… More >

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

Congenital Heart Disease, Vol.12, No.4, pp. 421-429, 2017, DOI:10.1111/chd.12461

Abstract 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.
Design: Participants included 195 children with a history of congenital heart defects, who are followed in a… More >

Natalie M. Hoeting¹, Courtney E. McCracken¹, Michael McConnell^1,2, Denver Sallee^1,2, Glen J. Iannucci^1,2, Matthew E. Oster^1,2

Congenital Heart Disease, Vol.12, No.4, pp. 417-420, 2017, DOI:10.1111/chd.12460

Abstract 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… More >

Karen Texter^1,2, Jo Ann M. Davis¹, Christina Phelps^1,2, Sharon Cheatham^1,2, John Cheatham^1,2, Mark Galantowicz^1,3, Timothy F. Feltes^1,2

Congenital Heart Disease, Vol.12, No.4, pp. 403-410, 2017, DOI:10.1111/chd.12459

Abstract Introduction: With increasing survival of children with HLHS and other single ventricle lesions, the complexity of medical care for these patients is substantial. Establishing and adhering to best practice models may improve outcome, but requires careful coordination and monitoring.
Methods: In 2013 our Heart Center began a process to build a comprehensive Single Ventricle Team designed to target these difficult issues.
Results: Comprehensive Single Ventricle Team in 2014 was begun, to standardize care for children with single ventricle heart defects from diagnosis to adulthood within our institution. The team is a multidisciplinary group of providers committed to improving outcomes and… More >

Jeffrey A. Robinson, Jill K. Shivapour, Christopher S. Snyder

Congenital Heart Disease, Vol.12, No.4, pp. 411-416, 2017, DOI:10.1111/chd.12458

Abstract 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. Pretest probability for pseudosyncope was high if there was no response to traditional management, atypical episodes, occurrence during undesirable exercise, or prolonged episode duration. Inductive techniques were utilized to… More >