Explanipedia

Socioeconomic Barriers for Newly Transferred Young Adults With Congenital Heart Disease Open

Jodie Beuth, Sara Thorne, Brigitte Mueller, David Moncada Barrón, Adrienne H. Kovacs , et al. · 2025

Gerbode-Type Defects in Adults After Repair of Tetralogy of Fallot: A Case Series Open

Sergey Yalonetsky, Avraham Lorber, Rachel M. Wald, Erwin Oechslin · 2025

•LV to RA communications (Gerbode-type defects, GtD) can be congenital or acquired.•GtD is a rare, not well appreciated complication after TOF repair.•GtD is a source of misinterpretation of the Doppler spectrum.•GtD can lead to the misdia…

Long-read genome sequencing increases genomic yield in congenital heart disease Open

Robert Lesurf, Anjali Jain, Nour Hanafi, Aleksandra Mitina, Yue Yin , et al. · 2025

Congenital heart disease (CHD) is the most common birth defect. We performed Illumina short-read genome sequencing (GS) of 1,101 probands, which identified a genetic cause in 16% of cases. We performed PacBio long-read GS in 43 genotype-el…

Physician Perception of Fontan Failure, “Acceptable” Hemodynamics, Assessment, and Indications for Intervention—Results of a Multinational Survey Open

Ashish H. Shah, Evan J. Wiens, Jonathan Windram, Shakeel Qureshi, Petra Jenkins , et al. · 2025

Toronto ACHD program: A 65 year legacy Open

Jack M. Colman, William G. Williams, Candice Silversides, Louise Harris, Lee Benson , et al. · 2024

The Toronto Adult Congenital Heart Disease (ACHD) Program at the University Health Network, University of Toronto, began in 1959. It traces its origins to a Paul Wood protégé, Dr. John Evans, and to a long-standing and supportive relations…

Arrhythmias in adult patients after Rastelli surgery: a single-centre experience Open

Sirish Chandra Srinath Patloori, Satoshi Kawada, Praloy Chakraborty, Yawer Saeed, Nathan Denham , et al. · 2024

Background: Rastelli surgery is used for the correction of several CHDs. Although late-onset cardiac arrhythmias have emerged as a major complication after corrective surgeries, there is a paucity of data on arrhythmias after Rastelli surg…

Intracardiac Echocardiography to Assist Anatomical Isthmus Ablation in Repaired Tetralogy of Fallot Patients With Ventricular Tachycardia Open

Nathan Denham, Raja Selvaraj, Jayant Kakarla, Sirish Chandra Srinath Patloori, S. Lucy Roche , et al. · 2024

A validated heart-specific model for splice-disrupting variants in childhood heart disease Open

Robert Lesurf, Jeroen Breckpot, Jade Bouwmeester, Nour Hanafi, Anjali Jain , et al. · 2024

Association Between Cardiac Size, Systolic Function, and Complications in Vascular Ehlers-Danlos Syndrome Open

Aly Fawzy, William Warnica, Kate Hanneman, Rachel M. Wald, Erwin Oechslin , et al. · 2024

Purpose: Vascular Ehlers-Danlos syndrome (vEDS) is a rare and aggressive heritable aortic disease caused by pathogenic variants in COL3A1 gene, characterized by spontaneous arterial dissection and organ rupture. The purpose of this study i…

Surveillance of adults with congenital heart disease: Current guidelines and actual clinical practice Open

Jolien W. Roos‐Hesselink, Chiara Pelosi, Margarita Brida, Julie De Backer, Sabine Ernst , et al. · 2024

Genome-wide enhancer-associated tandem repeats are expanded in cardiomyopathy Open

Aleksandra Mitina, Mahreen Khan, Robert Lesurf, Yue Yin, Worrawat Engchuan , et al. · 2024

Government of Ontario (RKCY), The Canadian Institutes of Health Research PJT 175329 (RKCY), The Azrieli Foundation (RKCY), SickKids Catalyst Scholar in Genetics (RKCY), The University of Toronto McLaughlin Centre (RKCY, SM), Ted Rogers Cen…

A validated heart-specific model for splice-disrupting variants in childhood heart disease Open

Robert Lesurf, Jeroen Breckpot, Jade Bouwmeester, Nour Hanafi, Anjali Jain , et al. · 2023

Congenital heart disease (CHD) is the most common congenital anomaly. Non-canonical splice-disrupting variants are not routinely evaluated by clinical tests. Algorithms including SpliceAI predict such variants, but are not specific to card…

Clinically Relevant Genetic Considerations for Patients With Tetralogy of Fallot Open

Anne S. Bassett, Miriam S. Reuter, Sarah Malecki, Candice Silversides, Erwin Oechslin · 2023

Cannabis Use: A New Risk Behaviour Among Adults With Congenital Heart Disease Open

Barbara Bailey, Michelle Dimas, Erwin Oechslin, Shereli Soldevilla, Rima Styra · 2023

Risk Stratification for Sudden Cardiac Death in Repaired Tetralogy of Fallot Open

Jayant Kakarla, Nathan Denham, Ayako Ishikita, Erwin Oechslin, Rafael Alonso-González , et al. · 2023

Age and Sex Differences in the Genetics of Cardiomyopathy Open

Oyediran Akinrinade, Robert Lesurf, J. C. Ambrose, Prabhu Arumugam, Marta Bleda , et al. · 2023

In memoriam: Lion Bernoulli 19482023 Open

Erwin Oechslin, Joseph Österwalder, Beppe Savary-Borioli, D Scharplatz, Wolfgang Ummenhofer , et al. · 2023

In memoriam: Lion Bernoulli 19482023 Open

Erwin Oechslin, Joseph Österwalder, Beppe Savary-Borioli, D Scharplatz, Wolfgang Ummenhofer , et al. · 2023

Table of Contents Open

Marwan K. Tayeh, Margaret Chen, Stephanie M. Fullerton, Patrick Gonzales, Samuel J. Huang , et al. · 2023

Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome Open

Erik Boot, Sólveig Óskarsdóttir, Joanne C. Y. Loo, T. Blaine Crowley, Ani Orchanian‐Cheff , et al. · 2023

Association of Pectus Excavatum With Ventricular Remodelling and Mitral Valve Abnormalities in Marfan Syndrome Open

Dalia Hashem, Victor Chan, Kate Hanneman, Rachel M. Wald, Paaladinesh Thavendiranathan , et al. · 2022

Background: Marfan syndrome (MFS) is an inherited connective tissue disorder. Pectus excavatum (PEX) is common in MFS. The purpose was to evaluate the association of PEX with cardiovascular manifestations of MFS, biventricular size and fun…

Patient-reported outcomes in the aging population of adults with congenital heart disease: results from APPROACH-IS Open

Philip Moons, Koen Luyckx, Corina Thomet, Werner Budts, Junko Enomoto , et al. · 2022

The congenital heart disease (CHD) population now comprises an increasing number of older persons in their 6th decade of life and beyond. We cross-sectionally evaluated patient-reported outcomes (PROs) in persons with CHD aged 60 years or …

Canadian Cardiovascular Society 2022 Guidelines for Cardiovascular Interventions in Adults With Congenital Heart Disease Open

Ariane Marelli, Luc Beauchesne, Jack M. Colman, Robin Ducas, Jasmine Grewal , et al. · 2022

The validity of current implantable cardioverter-defibrillator guidelines in a real-world population of adults with congenital heart disease: A single-center experience Open

Satoshi Kawada, Praloy Chakraborty, Jared Nanthakumar, Lisa Albertini, Erwin Oechslin , et al. · 2022

Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy Open

Robert Lesurf, Abdelrahman Said, Oyediran Akinrinade, Jeroen Breckpot, Kathleen Delfosse , et al. · 2022

Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries Open

Doris Škorić‐Milosavljević, Rafik Tadros, Fernanda M. Bosada, Federico Tessadori, Jan Hendrik van Weerd , et al. · 2021

Rationale: Dextro-transposition of the great arteries (D-TGA) is a severe congenital heart defect which affects approximately 1 in 4,000 live births. While there are several reports of D-TGA patients with rare variants in individual genes,…

2020 ESC Guidelines for themanagement of adult congenital heart disease Open

Helmut Baumgartner, Julie De Backer, S.V. Babu-Narayan, Werner Budts, Massimo Chessa , et al. · 2021

2020 ESC Guidelines for themanagement of adult congenital heart disease

Incidence of infective endocarditis in adults with congenital heart disease and diagnosed 22q11.2 deletion syndrome Open

Adonis Ng, Tracy Heung, Erwin Oechslin, Jessica Patzer, Anne S. Bassett · 2021

Reduced Systolic Function and Not Genetic Variants Determine Outcome in Pediatric and Adult Left Ventricular Noncompaction Cardiomyopathy Open

Alina Schultze-Berndt, Jirko Kühnisch, Christopher Herbst, Franziska Seidel, Nadya Al‐Wakeel‐Marquard , et al. · 2021

Background: Left ventricular noncompaction cardiomyopathy (LVNC CMP) is a genetic cardiomyopathy. Genotype-phenotype correlation and clinical outcome of genetic variants in pediatric and adult LVNC CMP patients are still unclear. Methods: …

Pain in adults with congenital heart disease - An international perspective Open

Allison Leibold, Erin Eichler, Sukyung Chung, Philip Moons, Adrienne H. Kovacs , et al. · 2021

Erwin Oechslin YOU? Author Swipe