Management of Inherited Arrhythmia Syndromes: A HiRO Consensus Handbook on Process of Care.

Inherited arrhythmia syndromes are rare genetic conditions that predispose seemingly healthy individuals to sudden cardiac arrest and death. The Hearts in Rhythm Organization is a multidisciplinary Canadian network of clinicians, researchers, patients, and families that aims to improve care for patients and families with inherited cardiac conditions, focused on those that confer predisposition to arrhythmia and sudden cardiac arrest and/or death. The field is rapidly evolving as research discoveries increase. A streamlined, practical guide for providers to diagnose and follow pediatric and adult patients with inherited cardiac conditions represents a useful tool to improve health system utilization, clinical management, and research related to these conditions. This review provides consensus care pathways for 7 conditions, including the 4 most common inherited cardiac conditions that confer predisposition to arrhythmia, with scenarios to guide investigation, diagnosis, risk stratification, and management. These conditions include Brugada syndrome, long QT syndrome, arrhythmogenic right ventricular cardiomyopathy and related arrhythmogenic cardiomyopathies, and catecholaminergic polymorphic ventricular tachycardia. In addition, an approach to investigating and managing sudden cardiac arrest, sudden unexpected death, and first-degree family members of affected individuals is provided. Referral to specialized cardiogenetic clinics should be considered in most cases. The intention of this review is to offer a framework for the process of care that is useful for both experts and nonexperts, and related allied disciplines such as hospital management, diagnostic services, coroners, and pathologists, in order to provide high-quality, multidisciplinary, standardized care.

Les syndromes d'arythmie héréditaires sont des troubles génétiques rares qui prédisposent des personnes en apparence en bonne santé à un arrêt cardiaque soudain et à la mort. L'organisation Hearts in Rhythm Organization est un réseau multidisciplinaire canadien qui regroupe des cliniciens, des chercheurs ainsi que des patients et leurs proches dans le but d'améliorer les soins prodigués aux patients atteints de maladies cardiaques héréditaires et à leur famille, en particulier dans le cas des maladies qui entraînent une prédisposition à l'arythmie et à un arrêt cardiaque soudain et/ou à la mort. Puisque ce champ de recherche évolue rapidement, la mise au point d'un guide pratique et simple à l'intention des professionnels de la santé pour le diagnostic et le suivi des patients enfants et adultes présentant une maladie cardiaque héréditaire serait donc un outil intéressant pour améliorer l'utilisation du système de santé et la prise en charge clinique de ces maladies tout en orientant la recherche à ce propos. La présente synthèse expose les trajectoires de soins faisant l'objet d'un consensus pour sept maladies, dont les quatre maladies cardiaques héréditaires les plus courantes qui prédisposent à l'arythmie. Elle présente aussi des scénarios pour orienter les examens, le diagnostic, la stratification du risque et la prise en charge des patients. Ces maladies sont le syndrome de Brugada, le syndrome du QT long, la cardiomyopathie arythmogénique du ventricule droit et les cardiomyopathies arythmogènes associées, et la tachycardie ventriculaire polymorphe catécholaminergique. En outre, une approche pour la prise en charge de l'arrêt cardiaque soudain, de mort subite inattendue et des membres de la famille immédiate de la personne touchée est proposée. L'orientation vers des cliniques spécialisées en cardiogénétique doit être envisagée dans la plupart des cas. L'objectif est d'établir un cadre de soins qui soit utile pour les experts et les non-experts ainsi que pour les professionnels des domaines connexes, par exemple le personnel de l'administration hospitalière et des services diagnostiques, les coroners et les pathologistes, en vue d'offrir des soins multidisciplinaires normalisés de grande qualité.

Psychological Distress in Adults With Congenital Heart Disease Over the COVID-19 Pandemic.

Background This study sought to better understand the experiences of adults with congenital heart disease throughout the pandemic. Objectives were to determine (1) psychological distress before and throughout the pandemic; (2) changes in day-to-day functioning; and (3) the percentage of adults with congenital heart disease who experienced COVID-19 related symptoms, underwent testing, and tested positive. Methods and Results This was a cross-sectional study paired with retrospective chart review. A web-based survey was distributed to patients between December 2020 and January 2021. Patients reported on psychological distress across 5 categories (Screening Tool for Psychological Distress; depression, anxiety, stress, anger, and lack of social support), whether they experienced symptoms of COVID-19 and/or sought testing, and changes to their work and social behavior. Five hundred seventy-nine survey responses were received, of which 555 were linked to clinical data. Patients were aged 45±15 years. The proportion of patients reporting above-threshold values for all Screening Tool for Psychological Distress items significantly increased during the early pandemic compared with before the pandemic. Stress returned to baseline in December 2020/January 2021, whereas all others remained elevated. Psychological distress decreased with age, and women reported persistently elevated stress and anxiety compared with men during the pandemic. A consistent trend was not observed with regard to American College of Cardiology/American Heart Association anatomic and physiologic classification. Fifty (9%) patients lost employment because of a COVID-19-related reason. COVID-19 symptoms were reported by 145 (25%) patients, 182 (31%) sought testing, and 10 (2%) tested positive. Conclusions A substantial proportion of adults with congenital heart disease reported clinically significant psychological distress during the pandemic.

Changes to the electrocardiogram during exercise in anorexia nervosa.

BACKGROUND: Anorexia Nervosa (AN) is an eating disorder characterized by low body weight, distorted body image, and an intense fear of gaining weight. Electrocardiogram (ECG) changes, particularly in the QT interval, have been implicated in AN-associated sudden death but not well defined. OBJECTIVES: To characterize QT interval changes during exercise in anorexia nervosa. METHODS: The QT interval was evaluated in a prospective cohort undergoing structured exercise. Patients from the St. Paul's Hospital Provincial Adult Tertiary Eating Disorders Program underwent a 6-minute modified exercise test protocol. A single lead ECG patch recording device was used to record a Lead I equivalent, due to challenges applying standard ECG monitoring in subjects with low body mass. Heart rate (HR) and QT interval were assessed. RESULTS: Eighteen eating disorder patients (16 female) completed testing (age 31 ± 12 years, BMI 16.5 ± 3.8 kg/m2). Patients were compared to age- and sex-matched healthy controls. HR was similar between patients and controls (baseline: 65 (55-70)bpm vs. 69 (53-73)bpm, p = 0.83; maximum: 110 (94-139) bpm vs. 108 (93-141) bpm, p = 0.96; end recovery: 62 (54-68) bpm vs. 66 (55-75) bpm, p = 0.39). QTc intervals were similar between groups at baseline (381 ± 17 ms vs. 381 ± 46 ms, p = 0.93) and end recovery (397 ± 42 ms vs 398 ± 42 ms, p = 0.91). However, AN patients demonstrated QTc prolongation while controls showed QTc shortening at maximum HR (426 ± 70 ms vs. 345 ± 59 ms, p = 0.001). CONCLUSION: Low level exercise HR increases are similar between AN patients and controls, but the QTc interval fails to shorten, which may explain the increased arrhythmic risk in AN.

Cost Analysis of Patients Referred for Inherited Heart Rhythm Disorder Evaluation.

BACKGROUND: Inherited heart rhythm disorders (IHRDs) are complex and uncommon arrhythmogenic conditions that can lead to sudden unexpected death in seemingly healthy individuals. Multidisciplinary programs can assist in the diagnostic testing of potentially affected individuals and their family members. METHODS: Patients evaluated in a specialized adult and pediatric IHRD clinic between April 2013 and February 2015 were characterized. The total costs per evaluation and diagnosis were calculated. Patients were divided according to referral indication (primary referral or family member). RESULTS: A total of 618 patients were evaluated (age 36 ± 21 years; 52% male), of which 274 (44%) were primary referrals and 344 (56%) were family members referred for cascade screening. Overall, 47% had at least 1 follow-up visit. Patients had a median of 3 tests; primary referrals required more tests (4 vs 2; P < 0.01). The median cost per patient was $1340 CAD. Evaluation of the primary referrals was costlier than family members ($3096 vs $983; P < 0.01). A definite or probable diagnosis was determined in 464 patients (77%), with no difference according to patient type (P = 0.18). The total cost per diagnosis was $4021 in primary referrals compared with $1277 in family members (P < 0.01). CONCLUSIONS: Clinical evaluation of patients with suspected IHRD results in a high diagnostic yield and costs aligned with other complex disorders involving multidisciplinary clinics. Evaluation costs are expectedly higher in primary referrals compared with targeted family screening.