Publications by authors named "Erwin Oechslin"

Article Synopsis
  • The study investigates the effectiveness of intracardiac echocardiography (ICE) in improving catheter ablation outcomes for ventricular tachycardia (VT) in adults with repaired tetralogy of Fallot (TOF).
  • Results showed that ICE significantly enhanced isthmus localization and ablation success rates, but did not improve long-term freedom from VT or affect overall procedural times and complications.
  • The conclusion emphasizes that while ICE is beneficial for tailored ablation based on individual anatomy, it does not lead to better long-term patient outcomes for VT in the context of repaired TOF.
View Article and Find Full Text PDF
Article Synopsis
  • Rastelli surgery is performed to correct congenital heart defects, but late-onset cardiac arrhythmias are a notable complication, and there's limited data on their occurrence after this surgery.
  • In a study of 55 patients followed for over 24 years, 38.4% experienced tachyarrhythmias, with older age at surgery linked to a higher risk; 21.8% had bradyarrhythmias, and some required catheter ablation.
  • The results indicate that arrhythmia prevalence is significant and increases with age post-surgery, emphasizing the need for long-term monitoring in patients who underwent Rastelli surgery.
View Article and Find Full Text PDF

Background: Congenital heart disease (CHD) is the most common congenital anomaly. Almost 90% of isolated cases have an unexplained genetic etiology after clinical testing. Non-canonical splice variants that disrupt mRNA splicing through the loss or creation of exon boundaries are not routinely captured and/or evaluated by standard clinical genetic tests.

View Article and Find Full Text PDF
Article Synopsis
  • The study examines the long-term outcomes and reintervention rates in patients who underwent repair of Tetralogy of Fallot (TOF) using two different surgical techniques: valve sparing repair (VSR) and transannular patch (TAP), over a 30-year period.
  • Results indicate that while survival rates are similar between the TAP and VSR cohorts, TAP patients experience significantly higher procedural burdens, with a greater need for multiple reinterventions and surgical pulmonary valve replacements.
  • The findings emphasize that the choice of surgical method affects post-operative challenges, with TAP leading to more complications, while VSR shows an increased risk of reoperation for right ventricular outflow tract obstruction.
View Article and Find Full Text PDF

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 is to evaluate ventricular size and function and to explore their associations with complications in vEDS. Adults with genetically confirmed vEDS who underwent clinical cardiac MRI were retrospectively compared with controls matched for age and sex.

View Article and Find Full Text PDF
Article Synopsis
  • Congenital heart disease (CHD) is the most prevalent birth defect, with over 90% of affected children now surviving into adulthood due to advances in medical care.* -
  • A survey of cardiologists showed that ECG and echocardiography are the most common diagnostic tests used for adults with CHD, and many doctors also focus on the psychosocial aspects of care.* -
  • There are inconsistencies between current clinical practices and established guidelines, especially in managing patients with mild CHD lesions, with American guidelines recommending more frequent monitoring compared to European guidelines.*
View Article and Find Full Text PDF
Article Synopsis
  • Cardiomyopathy is a diverse heart condition often linked to genetic factors, with over 50% of cases having unknown genetic causes.
  • This study analyzes genetic data from 1,216 individuals with cardiomyopathy to investigate the role of rare tandem repeat expansions (TREs) in the disease.
  • The research reveals that these rare TREs are more common in affected individuals, particularly in specific genes that may be silenced through DNA methylation, influencing heart function.
View Article and Find Full Text PDF

Background: Cannabis use has increased in Canada and can be associated with adverse cardiovascular events. Given increased use and accessibility to cannabis, there is a need among clinicians to better understand cannabis use in adults with congenital heart disease.

Methods: A cross-sectional survey (May to September 2018) was used to investigate cannabis use among 252 patients with adult congenital heart disease in a quaternary care centre.

View Article and Find Full Text PDF

There has been significant progress in the prevention of sudden cardiac death in repaired tetralogy of Fallot. Contemporary cohorts report greater survival attributable to improved surgical techniques, heart failure management, and proactive strategies for risk stratification and management of ventricular arrhythmias including defibrillator implantation and ablation technology. Over the last 25 years, our understanding of predictive risk factors has also improved from invasive and more limited measures to individualized risk prediction scores based on extensive demographic, imaging, electrophysiological, and functional data.

View Article and Find Full Text PDF

Genetic changes affect embryogenesis, cardiac and extracardiac phenotype, development, later onset conditions, and both short- and long-term outcomes and comorbidities in the increasing population of individuals with tetralogy of Fallot (TOF). In this review, we focus on current knowledge about clinically relevant genetics for patients with TOF across the lifespan. The latest findings for TOF genetics that are pertinent to day-to-day practice and lifelong management are highlighted: morbidity/mortality, cardiac/extracardiac features, including neurodevelopmental expression, and recent changes to prenatal screening and diagnostics.

View Article and Find Full Text PDF

Objective: Machine learning (ML) can facilitate prediction of major adverse cardiovascular events (MACEs) in repaired tetralogy of Fallot (rTOF). We sought to determine the incremental value of ML above expert clinical judgement for risk prediction in rTOF.

Methods: Adult congenital heart disease (ACHD) clinicians (≥10 years of experience) participated (one cardiac surgeon and four cardiologists (two paediatric and two adult cardiology trained) with expertise in heart failure (HF), electrophysiology, imaging and intervention).

View Article and Find Full Text PDF

Background: The purpose of this study was to evaluate mitral annular disjunction (MAD) on cardiac magnetic resonance imaging (MRI) in Loeys-Dietz Syndrome (LDS) and to explore its association with adverse outcomes.

Methods: In this retrospective cohort study, adult patients with LDS who underwent cardiac MRI were evaluated for MAD, aortic dimensions, and ventricular volumetry. Aortic events were defined as aortic surgery and/or dissection and severe arrhythmic events as cardiac arrest or sustained ventricular tachycardia (VT).

View Article and Find Full Text PDF

Cardiomyopathy has variable penetrance. We analyzed age and sex-related genetic differences in 1,397 cardiomyopathy patients (Ontario, UK) with whole genome sequencing. Pediatric cases (n = 471) harbored more deleterious protein-coding variants in Tier 1 cardiomyopathy genes compared to adults (n = 926) (34.

View Article and Find Full Text PDF

The natural history of an unrepaired isolated partial anomalous pulmonary venous connection(s) (PAPVC) and the absence of other congenital anomalies remains unclear. This study aimed to expand the understanding of the clinical outcomes in this population. Isolated PAPVC with an intact atrial septum is a relatively uncommon condition.

View Article and Find Full Text PDF

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 function.

View Article and Find Full Text PDF

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 older, and contrasted these with PROs of younger patients aged 40-59 years and 18-39 years. Adjusted for demographic and medical characteristics, patients ≥60 years had a lower Physical Component Summary, higher Mental Component Summary, and lower anxiety (Hospital Anxiety and Depression Scale-Anxiety) scores than patients in the two younger categories.

View Article and Find Full Text PDF

Background Heart failure (HF) is the leading cause of mortality and associated with significant morbidity in adults with congenital heart disease. We sought to assess the association between HF and patient-report outcomes in adults with congenital heart disease. Methods and Results As part of the APPROACH-IS (Assessment of Patterns of Patient-Reported Outcomes in Adults with Congenital Heart disease-International Study), we collected data on HF status and patient-reported outcomes in 3959 patients from 15 countries across 5 continents.

View Article and Find Full Text PDF
Article Synopsis
  • The text discusses the evolving landscape of interventions for adults with congenital heart disease (ACHD), focusing on surgical and percutaneous options while relying on updated guidelines from various cardiac societies between 2010 and 2020.* -
  • It highlights the use of the ADAPTE process to systematically review existing guidelines related to specific conditions within ACHD, providing tables and clinical flow diagrams to aid decision-making.* -
  • The document acknowledges the limited high-quality evidence for ACHD guidelines and emphasizes the need for collaboration between clinicians and patients during complex decision-making processes.*
View Article and Find Full Text PDF
Article Synopsis
  • Cardiomyopathy (CMP) is a hereditary condition, with over 50% of cases lacking identifiable genetic causes through standard testing.
  • A study analyzed whole-genome sequencing data from 209 pediatric CMP patients and a larger control group, focusing on both coding and non-coding genetic variants.
  • Results revealed that 39% of cases had known pathogenic variants, while 15% had significant regulatory variants affecting the expression of CMP-related genes, highlighting new pathways contributing to early-onset CMP.
View Article and Find Full Text PDF

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, the majority of D-TGA cases remain genetically elusive. Familial recurrence patterns and the observation that most cases with D-TGA are sporadic suggest a polygenic inheritance for the disorder, yet this remains unexplored.

View Article and Find Full Text PDF

Background: Complications and need for reinterventions are frequent in patients with pulmonary valve stenosis (PVS). Pulmonary regurgitation is common, but no data are available on outcome after pulmonary valve replacement (PVR).

Methods: We performed a retrospective analysis of 215 patients with PVS who underwent surgical valvotomy or balloon valvuloplasty.

View Article and Find Full Text PDF