Influence of age and sex on the diagnostic yield of inherited cardiac conditions in sudden arrhythmic death syndrome decedents.

Aims: Sudden arrhythmic death syndrome (SADS) refers to a sudden death, which remains unexplained despite comprehensive post-mortem examination and a toxicological screen. We aimed to investigate the impact of age and sex on the overall diagnostic yield and underlying aetiology in decedents with SADS using a combined approach of familial evaluation (FE) and molecular autopsy (MA).

Methods And Results: Consecutive referrals to a single centre for FE only, MA only or both, following a SADS death were included.

Noninvasive assessment of hydroquinidine effect in Brugada syndrome (QUIET BrS).

Background: Hydroquinidine reduces arrhythmic events in patients with Brugada syndrome (BrS). The mechanism by which it exerts antiarrhythmic benefit and its electrophysiological effects on BrS substrate remain incompletely understood.

Objective: This study aimed to determine the effect of hydroquinidine on ventricular depolarization and repolarization in patients with BrS in vivo.

Comparison of 6-lead smartphone ECG and 12-lead ECG in athletes and a genetic heart disease population.

Background: Smartphone electrocardiograms (iECGs) are an innovative method of capturing transient arrhythmias that are occasionally experienced by athletes. This study aimed to assess the accuracy of a 6-lead iECG compared with 12-lead ECG in athletes and those with known genetic heart disease (positive controls).

Research Design And Methods: Each participant had a resting 12-lead ECG (supine) and a 30 s 6-lead iECG (seated) taken within 2 h.

Relative utility of portable ECG devices in capturing arrhythmias in athletes.

Introduction: Traditional monitoring of athletes with cardiac symptoms is limited due to sport-specific considerations and the intermittent nature of symptoms. Some portable electrocardiogram (ECG) devices may have more diagnostic utility than traditional monitoring. Their accuracy, advantages, and limitations should be considered when a clinician is considering the most appropriate device for investigation of an athlete's symptoms.

Vigorous Exercise in Patients With Congenital Long QT Syndrome: Results of the Prospective, Observational, Multinational LIVE-LQTS Study.

Background: Whether vigorous exercise increases risk of ventricular arrhythmias for individuals diagnosed and treated for congenital long QT syndrome (LQTS) remains unknown.

Methods: The National Institutes of Health-funded LIVE-LQTS study (Lifestyle and Exercise in the Long QT Syndrome) prospectively enrolled individuals 8 to 60 years of age with phenotypic and/or genotypic LQTS from 37 sites in 5 countries from May 2015 to February 2019. Participants (or parents) answered physical activity and clinical events surveys every 6 months for 3 years with follow-up completed in February 2022.

The role of genetic testing in management and prognosis of individuals with inherited cardiomyopathies.

Inherited cardiomyopathies are a heterogeneous group of heart muscle conditions where disease classification has traditionally been based on clinical characteristics. However, this does not always align with genotype. While there are well described challenges of genetic testing, understanding the role of genotype in patient management is increasingly required.

International Criteria for Reporting Study Quality for Sudden Cardiac Arrest/Death Tool.

Background: Studies reporting on the incidence of sudden cardiac arrest and/or death (SCA/D) in athletes commonly lack methodological and reporting rigor, which has implications for screening and preventative policy in sport. To date, there are no tools designed for assessing study quality in studies investigating the incidence of SCA/D in athletes.

Methods And Results: The International Criteria for Reporting Study Quality for Sudden Cardiac Arrest/Death tool (IQ-SCA/D) was developed following a Delphi process.

Recurrent immunosuppressive-responsive myocarditis in a patient with desmoplakin cardiomyopathy: a case report.

Background: Desmoplakin (DSP) cardiomyopathy is a rare genetic condition characterized by repeated inflammatory myocardial injury and is associated with ventricular arrhythmia and sudden cardiac death. Diagnosis is challenging and requires a combination of genetic testing and advanced imaging techniques.

Case Summary: We present the case of a 38-year-old woman with recurrent episodes of subclinical myocarditis.

A case series of patients with filamin-C truncating variants attending a specialized cardiac genetic clinic.

Background: encodes for filamin-C, a protein expressed in Z-discs of cardiac and skeletal muscle, involved in intracellular signalling and mechanical stabilization. Variants can cause diverse phenotypes with skeletal (myofibrillar or distal myopathy) and/or cardiac (hypertrophic, restrictive, and arrhythmogenic cardiomyopathies) manifestations. Truncating variants have recently been implicated in arrhythmogenic cardiomyopathy (ACM) without skeletal disease.

The New South Wales Sudden Cardiac Arrest Registry: A Data Linkage Cohort Study.

Background: Sudden cardiac arrest (SCA) in young people aged 1 to 50 years often occurs with no presenting symptoms or risk factors prompting screening for cardiovascular disease prior to their cardiac arrest. Approximately 3,000 young Australians suffer from sudden cardiac death (SCD) each year, making this a major public health issue. However, there is significant variation in the way incidence is estimated resulting in discrepancy across reporting which impacts our ability to understand and prevent these devastating events.

The assessment of undergraduate bachelor of nursing students in the collaborative clusters education model: A qualitative descriptive design.

Background: Worldwide, undergraduate Bachelor of Nursing students are required to complete experiential learning placements in health care settings as part of the curriculum. There are a variety of facilitation models that support student learning and assessment on clinical placement. As workforce pressures increase globally, innovative approaches to clinical facilitation are required.

Longitudinal assessment of structural phenotype in Brugada syndrome using cardiac magnetic resonance imaging.

Background: Despite historically being considered a channelopathy, subtle structural changes have been reported in Brugada syndrome (BrS) on histopathology and cardiac magnetic resonance (CMR) imaging. It is not known if these structural changes progress over time.

Objective: The study sought to assess if structural changes in BrS evolve over time with serial CMR assessment and to investigate the utility of parametric mapping techniques to identify diffuse fibrosis in BrS.

Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin () Truncating Variant.

Background: Truncating variants in desmoplakin (tv) are an important cause of arrhythmogenic cardiomyopathy; however the genetic architecture and genotype-specific risk factors are incompletely understood. We evaluated phenotype, risk factors for ventricular arrhythmias, and underlying genetics of tv cardiomyopathy.

Methods: Individuals with tv and any cardiac phenotype, and their gene-positive family members were included from multiple international centers.

The role of genetic testing in diagnosis and care of inherited cardiac conditions in a specialised multidisciplinary clinic.

Background: The diagnostic yield of genetic testing for inherited cardiac diseases is up to 40% and is primarily indicated for screening of at-risk relatives. Here, we evaluate the role of genomics in diagnosis and management among consecutive individuals attending a specialised clinic and identify those with the highest likelihood of having a monogenic disease.

Methods: A retrospective audit of 1697 consecutive, unrelated probands referred to a specialised, multidisciplinary clinic between 2002 and 2020 was performed.

Athletic Activity for Patients With Hypertrophic Cardiomyopathy and Other Inherited Cardiovascular Diseases: JACC Focus Seminar 3/4.

As explored throughout this JACC Focus Seminar series, participation in regular exercise offers significant positive benefits for cardiovascular health. However, patients with underlying inherited cardiovascular diseases, such as hypertrophic cardiomyopathy, have historically been restricted from sports participation because of the risk of sudden cardiac death. Over the last decade, new data has challenged this restrictive approach.

Indications and utility of cardiac genetic testing in athletes.

Sports Cardiology practice commonly involves the evaluation of athletes for genetically determined cardiac conditions that may predispose to malignant arrhythmias, heart failure, and sudden cardiac death. High-level exercise can lead to electrical and structural cardiac remodelling which mimics inherited cardiac conditions (ICCs). Differentiation between 'athlete's heart' and pathology can be challenging and often requires the whole armamentarium of available investigations.

Rare Variation in Drug Metabolism and Long QT Genes and the Genetic Susceptibility to Acquired Long QT Syndrome.

Background: Acquired long QT syndrome (aLQTS) is a serious unpredictable adverse drug reaction. Pharmacogenomic markers may predict risk.

Methods: Among 153 aLQTS patients (mean age 58 years [range, 14-88], 98.

Andersen-Tawil syndrome: deep phenotyping reveals significant cardiac and neuromuscular morbidity.

Andersen-Tawil syndrome is a neurological channelopathy caused by mutations in the KCNJ2 gene that encodes the ubiquitously expressed Kir2.1 potassium channel. The syndrome is characterized by episodic weakness, cardiac arrythmias and dysmorphic features.

Biventricular Myocardial Fibrosis and Sudden Death in Patients With Brugada Syndrome.

Background: Electrophysiological, imaging, and pathological studies have reported the presence of subtle structural abnormalities in hearts from patients with Brugada syndrome (BrS). However, data concerning disease involvement outside of the right ventricular outflow tract are limited.

Objectives: This study sought to characterize the presence and distribution of ventricular myocardial fibrosis in a cohort of decedents experiencing sudden cardiac death caused by BrS.