Nelly Sabbaghian¹, Maria C. Digilio², Gillian M. Blue^3,4, Timothée Revil⁵, David S. Winlaw^3,4, William D. Foulkes^1,6

Congenital Heart Disease, Vol.13, No.3, pp. 401-406, 2018, DOI:10.1111/chd.12578

Abstract Objective: We previously identified a pathogenic germline DICER1 variant in a child with transposition of the great arteries who was a member of a family with DICER1 syndrome. In view of a report linking DICER1 knockout in murine cardiomyocytes to cardiac outflow defects, we investigated the involvement of DICER1 in transposition of the great arteries.
Design: We used Fluidigm access array followed by next generation sequencing to screen for variants in the coding exons, their exon/intron boundaries and the 30 untranslated region of DICER1 in patient DNA.
Cases: Germline DNA was collected from 129 patients with either sporadic or familial More >

Carissa M. Baker-Smith¹, Karina Carlson², Jose Ettedgui³, Takeshi Tsuda⁴, K. Anitha Jayakumar⁵, Matthew Park⁶, Nikola Tede⁷, Karen Uzark⁸, Craig Fleishman⁹, David Connuck¹⁰, Maggie Likes¹¹, Daniel J. Penny¹²

Congenital Heart Disease, Vol.13, No.1, pp. 52-58, 2018, DOI:10.1111/chd.12540

Abstract Objective: To develop quality metrics (QMs) for the ambulatory care of patients with transposition of the great arteries following arterial switch operation (TGA/ASO).
Design: Under the auspices of the American College of Cardiology Adult Congenital and Pediatric Cardiology (ACPC) Steering committee, the TGA/ASO team generated candidate QMs related to TGA/ASO ambulatory care. Candidate QMs were submitted to the ACPC Steering Committee and were reviewed for validity and feasibility using individual expert panel member scoring according to the RAND-UCLA methodology. QMs were then made available for review by the entire ACC ACPC during an “open comment period.” Final… More >

Magalie Ladouceur^1,2,3, Nadjia Kachenoura⁴, Gilles Soulat^1,3, Emilie Bollache⁴, Alban Redheuil⁴, Michel Azizi³, Christophe Delclaux³, Gilles Chatellier³, Pierre Boutouyrie^1,3, Laurence Iserin³, Damien Bonnet^2,3, Elie Mousseaux^1,3

Congenital Heart Disease, Vol.12, No.4, pp. 458-466, 2017, DOI:10.1111/chd.12472

Abstract Objectives: We aimed (1) determine if systemic right ventricle filling parameters influence systemic right ventricle stroke volume in adult patients with D-transposition of the great arteries (D-TGA) palliated by atrial switch, using cardiac magnetic resonance imaging and echocardiography, and (2) to study relationship of these diastolic parameters with exercise performance and BNP, in patients with preserved systolic systemic right ventricle function.
Design: Single-center, cross-sectional, prospective study.
Setting: In patients with D-TGA palliated by atrial switch, diastolic dysfunction of the systemic right ventricle may precede systolic dysfunction.
Methods: Forty-five patients with D-TGA and atrial switch and 45 age and sex-matched… 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… 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… More >