Psychological Distress and Quality of Life in Participants Undergoing Genetic Testing for Arrhythmogenic Right Ventricular Cardiomyopathy Caused by TMEM43 p.S358L: Is It Time to Offer Population-Based Genetic Screening?

Purpose: We have identified 27 families in Newfoundland and Labrador (NL) with the founder variant TMEM43 p.S358L responsible for 1 form of arrhythmogenic right ventricular cardiomyopathy. Current screening guidelines rely solely on cascade genetic screening, which may result in unrecognized, high-risk carriers who would benefit from preemptive implantable cardioverter-defibrillator therapy.

An International Multicenter Evaluation of Inheritance Patterns, Arrhythmic Risks, and Underlying Mechanisms of -Catecholaminergic Polymorphic Ventricular Tachycardia.

Background: Genetic variants in calsequestrin-2 () cause an autosomal recessive form of catecholaminergic polymorphic ventricular tachycardia (CPVT), although isolated reports have identified arrhythmic phenotypes among heterozygotes. Improved insight into the inheritance patterns, arrhythmic risks, and molecular mechanisms of -CPVT was sought through an international multicenter collaboration.

Methods: Genotype-phenotype segregation in -CPVT families was assessed, and the impact of genotype on arrhythmic risk was evaluated using Cox regression models.

Exercise and arrhythmic risk in TMEM43 p.S358L arrhythmogenic right ventricular cardiomyopathy.

Background: High-level exercise has been associated with a malignant phenotype in desmosomal and genotype-negative forms of arrhythmogenic right ventricular cardiomyopathy (ARVC). This is the first study to examine this issue with ARVC secondary to the TMEM43 p.S358L mutation.

Cardiac arrest in a mother and daughter and the identification of a novel RYR2 variant, predisposing to low penetrant catecholaminergic polymorphic ventricular tachycardia in a four-generation Canadian family.

Background: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare inherited arrhythmia syndrome characterized by adrenergically driven ventricular arrhythmia predominantly caused by pathogenic variants in the cardiac ryanodine receptor (RyR2). We describe a novel variant associated with cardiac arrest in a mother and daughter.

Methods: Initial sequencing of the RYR2 gene identified a novel variant (c.

Regional differences in aortic valve replacements: Atlantic Canadian experience.

Background: Transcatheter aortic valve implantation (TAVI) is evolving rapidly and is increasingly being adopted in the treatment of aortic valve disease. The goal of this study was to examine regional differences in surgical aortic valve replacement (SAVR) and TAVI across Atlantic Canada.

Methods: We identified all patients who underwent SAVR or TAVI between Jan.

Primary Cardiac T Cell Lymphoma Mimicking ST-Elevation Myocardial Infarction.

Primary cardiac T cell lymphoma is an extremely rare condition with only a handful of biopsy-proven cases worldwide. We present a 62-year-old female presenting with nonspecific chest discomfort, shortness of breath, and anterolateral ST-elevation on electrocardiogram mimicking a ST-elevation myocardial infarction. Imaging revealed a cardiac mass and cardiac catheterization showed diffuse noncritical coronary disease with an occluded 2nd diagonal branch.

Disappearance of pathologic anteroseptal Q waves after reperfusion with percutaneous coronary intervention (PCI) in a 61 year old female: A case report.

We report a case of a 61 year old female with disappearance of anteroseptal Q waves following an anterior STEMI. At presentation a 12 lead ECG revealed frank anteroseptal Q waves and T wave inversion (V1-V3). The patient underwent percutaneous coronary intervention (PCI) with drug eluting stenting to a critically stenosed left anterior descending artery.

: A qualitative study of psychological sequelae to the implantable cardioverter defibrillator as a treatment for the prevention of sudden cardiac death in arrhythmogenic right ventricular cardiomyopathy.

Objectives: Arrhythmogenic right ventricular cardiomyopathy caused by a TMEM43 p.S358L mutation is a fully penetrant autosomal dominant cause of sudden cardiac death where prophylactic implantable cardioverter defibrillator therapy significantly reduces mortality by returning lethal cardiac rhythms to normal. This qualitative study assessed the psychological ramifications of the implantable cardioverter defibrillator on recipients, their spouses and their mutation negative siblings.

Bundle Branch Re-Entrant Ventricular Tachycardia: Novel Genetic Mechanisms in a Life-Threatening Arrhythmia.

Objectives: This study sought to investigate for an underlying genetic etiology in cases of apparent idiopathic bundle branch re-entrant ventricular tachycardia (BBRVT).

Background: BBRVT is a life-threatening arrhythmia occurring secondary to macro-re-entry within the His-Purkinje system. Although classically associated with dilated cardiomyopathy, BBRVT may also occur in the setting of isolated, unexplained conduction system disease.

Do Biologics Protect Patients With Psoriasis From Myocardial Infarction? A Retrospective Cohort.

Background: Psoriasis is a chronic immune-mediated inflammatory disorder that affects approximately 2% to 3% of the population, which translates to 17 million in North America and Europe and approximately 170 million people worldwide. Although psoriasis can occur at any age, most cases develop before age 40 years. Some larger studies have noted bimodal age at onset with the first peak occurring at approximately age 30 years and the second peak at around 55 to 60 years, but most patients have a younger age of onset (15-30 years).

Cardiac Resynchronization Therapy With a Quadripolar Electrode Lead Decreases Complications at 6 Months: Results of the MORE-CRT Randomized Trial.

Objectives: The aim of this study was to test the hypothesis that a quadripolar left ventricular (LV) lead results in fewer LV lead-related events than a bipolar cardiac resynchronization therapy (CRT) system in a prospective randomized trial.

Background: Bipolar LV leads cannot be implanted at the optimal site in up to 10% of patients who need CRT, because of anatomic or technical challenges (pacing threshold, phrenic stimulation, or mechanical instability).

Methods: The MORE-CRT (More Options Available With a Quadripolar LV Lead Provide In-Clinic Solutions to CRT Challenges) trial enrolled 1,078 patients.

Long-Term Clinical Outcome of Arrhythmogenic Right Ventricular Cardiomyopathy in Individuals With a p.S358L Mutation in TMEM43 Following Implantable Cardioverter Defibrillator Therapy.

Background: We previously showed a survival benefit of the implantable cardioverter defibrillator (ICD) in males with arrhythmogenic right ventricular cardiomyopathy caused by a p.S358L mutation in TMEM43. We present long-term data (median follow-up 8.

Values and Preferences of Physicians and Patients With Nonvalvular Atrial Fibrillation Who Receive Oral Anticoagulation Therapy for Stroke Prevention.

Background: Real-world data on patients' and physicians' values related to the use of oral anticoagulant (OAC) therapy for stroke prevention in patients with nonvalvular atrial fibrillation are currently lacking. We sought to assess the values, preferences, and experience of patients who receive OAC therapy, and of physicians who prescribe OAC therapy.

Methods: A national survey of randomly selected patients (n = 266) and physicians (n = 178) was conducted between May and September 2014.

Insight into the mechanism of failure of the Riata lead under advisory.

Background: Cable externalization and insulation abrasion are known to occur with the St Jude Medical Riata leads under advisory. The distribution of these abnormalities and how they relate to clinical presentation have not been well described.

Objective: In this study, we sought to determine the relationship between structural lead failure and clinical presentation by using the analysis of returned Riata products in Canada.

Snapshot of adult invasive cardiac electrophysiology in Canada: results of the web-based registry.

Purpose: Interventional cardiac electrophysiology (EP) has experienced a significant growth in Canada. Our aim is to establish a periodic registry as a nationwide initiative.

Methods: The registry is designed to collect information regarding EP laboratory infrastructure, human resources, and the spectrum and volumes of EP procedures.

The TMEM43 Newfoundland mutation p.S358L causing ARVC-5 was imported from Europe and increases the stiffness of the cell nucleus.

Aims: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare genetic condition caused predominantly by mutations within desmosomal genes. The mutation leading to ARVC-5 was recently identified on the island of Newfoundland and caused by the fully penetrant missense mutation p.S358L in TMEM43.

The Canadian experience with Durata and Riata ST Optim defibrillator leads: a report from the Canadian Heart Rhythm Society Device Committee.

Background: The St. Jude Medical Riata family of implantable cardioverter-defibrillator (ICD) leads has demonstrated a high rate of externalized conductors and electrical failure.

Objective: Given similar design elements of Durata to Riata, the purpose of this study was to assess the rates of failure of the Riata ST Optim and Durata lead families in Canada.

Failure rate of the Riata lead under advisory: a report from the CHRS Device Committee.

Background: A unique form of lead failure has been described in the Riata (8-F) and Riata ST (7-F) silicone defibrillation lead degradation of the outer insulation, resulting in the externalization of conductor cables.

Objective: To assess rates of lead revision due to lead failure in Riata leads affected by the Riata advisory.

Methods: Nineteen implantable cardioverter-defibrillator implant and follow-up centers were surveyed.

Recurrent missense mutations in TMEM43 (ARVD5) due to founder effects cause arrhythmogenic cardiomyopathies in the UK and Canada.

Aims: Autosomal dominant arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) (in the group of arrhythmogenic cardiomyopathies) is a common cause of sudden cardiac death in young adults. It is both clinically and genetically heterogeneous, with 12 loci (ARVC/D1-12) and eight genes identified, the majority of which encode structural proteins of cardiac desmosomes. The most recent gene identified, TMEM43, causes disease due to a missense mutation in a non-desmosomal gene (p.

Nonphysiologic noise early after defibrillator implantation in Canada: incidence and implications: a report from the Canadian Heart Rhythm Society Device Committee.

Background: Following recent cases of nonphysiologic noise noted early after defibrillator implantation, the Canadian Heart Rhythm Society Device Committee decided to evaluate the implications of this problem.

Objective: To determine the incidence and consequences of nonphysiologic noise early after defibrillator implantation.

Methods: The Canadian Heart Rhythm Society Device Committee surveyed all Canadian defibrillator implanting centers regarding their implant volumes and number of cases where nonphysiologic noise had been noted early (< 24 hours) after implant over the preceding 2 years.

Recommendations for the use of genetic testing in the clinical evaluation of inherited cardiac arrhythmias associated with sudden cardiac death: Canadian Cardiovascular Society/Canadian Heart Rhythm Society joint position paper.

The era of gene discovery and molecular medicine has had a significant impact on clinical practice. Knowledge of specific genetic findings causative for or associated with human disease may enhance diagnostic accuracy and influence treatment decisions. In cardiovascular disease, gene discovery for inherited arrhythmia syndromes has advanced most rapidly.

Complications associated with revision of Sprint Fidelis leads: report from the Canadian Heart Rhythm Society Device Advisory Committee.

Background: It has been observed that replacement of an implantable cardioverter-defibrillator generator in response to a device advisory may be associated with a substantial rate of complications, including death. The risk of lead revision in response to a lead advisory has not been determined previously.

Methods And Results: Twenty-five implantable cardioverter-defibrillator implantation and follow-up centers from the Canadian Heart Rhythm Society Device Advisory Committee were surveyed to assess complication rates as a result of lead revisions due to the Sprint Fidelis advisory issued in October 2007.

Translation of research discoveries to clinical care in arrhythmogenic right ventricular cardiomyopathy in Newfoundland and Labrador: lessons for health policy in genetic disease.

Arrhythmogenic right ventricular cardiomyopathy, a lethal autosomal dominant cause of sudden cardiac death in young people, is prevalent in Newfoundland and Labrador (genetic subtype ARVD5). In the absence of implantable cardioverter defibrillator treatment, death rates are extremely high. Research into arrhythmogenic right ventricular cardiomyopathy (ARVD5) began in the 1980s and the causative gene and mutation were discovered in 2008.

Assessment of resynchronization therapy on functional status and quality of life in patients requiring an implantable defibrillator.

Background: The effect of cardiac resynchronization therapy (CRT) on physical function and Quality of Life (QoL) in patients who require an implantable defibrillator but do not meet guideline criteria for CRT has not been studied in detail.

Methods And Results: This was a randomized study of 72 patients with high risk of sudden cardiac death, ejection fraction (EF) < or =35%, mild-to-moderate heart failure symptoms, and QRS > 120 ms. Patients received a CRT defibrillator and were randomized to CRT turned ON or OFF.