Kari L. Turkowski¹, David J. Tester^2,3, J. Martijn Bos^2,4, Kristina H. Haugaa⁵, Michael J. Ackerman^2,3,4

Congenital Heart Disease, Vol.12, No.2, pp. 226-235, 2017, DOI:10.1111/chd.12462

Abstract 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. Objective: Here, whole exome sequencing (WES) was performed with genomic triangulation in an effort to identify a novel explanation for a phenotype-positive, genotype-negative multigenerational pedigree with… More >

Anushree Agarwal, Fatima Samad, Lindsey Kalvin, Michelle Bush, A. Jamil Tajik

Congenital Heart Disease, Vol.12, No.2, pp. 143-152, 2017, DOI:10.1111/chd.12453

Abstract 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.
Cases: We present some illustrative cases of ccTGA patients who had diverse presentations ranging from being completely… More >

R. Thomas Collins II^1,2, Margaret G. Collins³, Michael L. Schmitz^2,4, Justin T. Hamrick⁴

Congenital Heart Disease, Vol.12, No.2, pp. 133-142, 2017, DOI:10.1111/chd.12447

Abstract Williams syndrome (WS) is a congenital, multisystem disorder affecting the cardiovascular, connective tissue, and central nervous systems in 1 in 10 000 live births. Cardiovascular involvement is the most common cause of morbidity and mortality in patients with WS, and noninvasive and invasive procedures are common. Sudden cardiovascular collapse in patients with WS is a well-known phenomenon, especially in the peri-procedural period. Detailed guidelines for peri-procedural management of patients with WS are limited. The goal of this review is to provide thoughtful, safe and effective management strategies for the peri-procedural care of patients with WS with careful consideration of hemodynamic… More >

Moira B. Hilscher¹, Jonathan N. Johnson^2,3, Frank Cetta^2,3, David J. Driscoll^2,3, John J. Poterucha¹, William Sanchez¹, Heidi M. Connolly³, Patrick S. Kamath¹

Congenital Heart Disease, Vol.12, No.2, pp. 124-132, 2017, DOI:10.1111/chd.12446

Abstract 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. More >

Dawn Ilardi^1,2, Kim E. Ono^1,2, Rebecca McCartney³, Wendy Book⁴, Anthony Y. Stringer²

Congenital Heart Disease, Vol.12, No.2, pp. 166-173, 2017, DOI:10.1111/chd.12434

Abstract 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.
Design: Participants completed brief neuropsychological testing. Information about neurobehavioral and psychological symptoms, employment, education, and disability were also collected from the patient and a family member.
Results: Forty-eight participants with adult CHD completed neuropsychological testing. Visuospatial skills and… More >

Yuli Y. Kim¹, Wei He², Thomas E. MacGillivray³, Oscar J. Benavidez²

Congenital Heart Disease, Vol.12, No.2, pp. 159-165, 2017, DOI:10.1111/chd.12433

Abstract 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.
Patients: Admissions of patients age 18–49 years with International Classification of Diseases, Ninth Revision, Clinical Modification codes indicating adult congenital heart surgery.
Outcome Measures: Readmission was defined as any nonelective hospitalization for a given patient ≤30 days… More >

Haki Jashari¹, Katarina Lannering², Mats Mellander², Pranvera Ibrahimi¹, Annika Rydberg³, Michael Y. Henein¹

Congenital Heart Disease, Vol.12, No.2, pp. 218-225, 2017, DOI:10.1111/chd.12430

Abstract Background and aims: Patients with coarctation of the aorta (CoA) have increased left ventricular (LV) afterload that has been shown to impact the LV and ascending aortic function. We aimed to examine the effect of coarctation on LV function and aorto-septal angle (AoSA) before and after surgical repair.
Methods: We retrospectively studied 21 patients with surgically repaired CoA at a median age of 9 (2-53) days at three time points: (1) just before intervention, (2) at short-term follow-up, and (3) at medium-term follow-up after intervention. AoSA was measured from the parasternal long axis view, at three time points during the… More >

Sean M. Lang^1,2,3, Elijah Bolin^1,2,3, Joshua A. Daily^1,2,3, Xinyu Tang^1,2,3, R. Thomas Collins II^1,2,3

Congenital Heart Disease, Vol.12, No.2, pp. 210-217, 2017, DOI:10.1111/chd.12428

Abstract Objective: Multiple reports have shown echocardiograms for certain indications are neither costeffective nor of high diagnostic yield. Given the ease with which tests can be obtained at a tertiary academic children’s hospital, our aims were to: (1) determine the diagnostic yield of inpatient studies by in-hospital location; (2) evaluate inpatient echocardiograms to determine indications and level of appropriateness; and (3) evaluate the frequency of cardiology involvement prior to those echocardiograms.
Design: All initial inpatient echocardiograms interpreted at our institution from February 2009 to December 2014 were reviewed retrospectively. Patient location was grouped as pediatric intensive care (PICU), emergency department (ED),… More >

Jacqueline H. Sanz^1,2, Madison M. Berl^1,2, Anna C. Armour¹, Jichuan Wang^3,4, Yao I. Cheng³, Mary T. Donofrio^5,6

Congenital Heart Disease, Vol.12, No.2, pp. 202-209, 2017, DOI:10.1111/chd.12427

Abstract Objective: Executive function, a set of cognitive skills important to social and academic outcomes, is a specific area of cognitive weakness in children with congenital heart disease (CHD). We evaluated the prevalence and profile of executive dysfunction in a heterogeneous sample of school aged children with CHD, examined whether children with executive dysfunction are receiving school services and support, and identified risk factors for executive dysfunction at school age.
Design: Ninety-one school aged patients completed questionnaires, including the Behavior Rating Inventory of Executive Function (BRIEF) and a medical history questionnaire. An age- and gendermatched control sample was drawn from a… More >

Safwat A. Aly¹, David Zurakowski², Penny Glass³, Kami Skurow-Todd⁴, Richard A. Jonas⁵, Mary T. Donofrio⁴

Congenital Heart Disease, Vol.12, No.2, pp. 188-195, 2017, DOI:10.1111/chd.12426

Abstract Importance: There are no well-established noninvasive biomarkers for identifying patients at risk for poor outcome after surgery for congenital heart disease. Few studies have assessed prognostic accuracy of cerebral tissue oxygenation index (cTOI) measured by near infrared spectroscopy (NIRS).
Objective: To assess the utility of noninvasive NIRS monitoring as a predictor of outcomes after neonatal cardiac surgery through measurement of cTOI. To examine the utility of noninvasive NIRS monitoring in combination with lactate concentration and inotropic score in prediction of outcomes after neonatal cardiac surgery.
Design: Prospective longitudinal cohort study.
Setting: Operating room and cardiac intensive care unit, Children’s National… More >