Initially unexplained cardiac arrest in children and adolescents: A national experience from the Canadian Pediatric Heart Rhythm Network

Cunningham, Taylor; Roston, Thomas M.; Franciosi, Sonia; Liu, Michelle Chang; Atallah, Joseph; Escudero, Carolina A.; Udupa, Sharmila; Roberts, Jason D.; Dhillon, Santokh; Dallaire, Frédéric; Fournier, Anne; Fatah, Meena; Hamilton, Robert M.; Sanatani, Shubhayan

doi:10.1016/j.hrthm.2020.01.030

Cited by 23 publications

(14 citation statements)

References 31 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…where they identified 27% of unexplained young SCD cases with an LP/P variant 6 . In addition, studies from Canadian pediatric centers, Catalonia, and Denmark have also reported higher (30-40%) proportions of positive findings [31][32][33] . In contrast, several other studies have reported clinically actionable variants in 10-18% of young SCD cases 3,8,24,[34][35][36] .…”

Section: Discussionmentioning

confidence: 99%

Rare Genetic Variants Associated with Sudden Cardiac Arrest in the Young: A Prospective, Population-Based Study

Holmström

Chaudhary

Nakamura

et al. 2022

Preprint

View full text Add to dashboard Cite

Background: Sudden cardiac arrest (SCA) is a rare and tragic event among the young and often caused by inherited cardiac disease. Previous studies have investigated referral cohorts, but the prevalence of disease-associated variants is unclear at the community level. We investigated the prevalence of genetic variants among community-based cases of SCA aged <21 years. Methods: The study sample is obtained from two prospective, community-based studies of out-of-hospital SCA ongoing in the Portland, OR metro area (population ~1 million) and Ventura County CA (population ~850,000). We performed next-generation whole genome sequencing and then rare variant analysis of candidate genes associated with arrhythmic syndromes and cardiomyopathy in ClinGen. Results: The mean age of the study subjects was 11.3 years (SD 8.0 years, 30% non-white, 45% female). We found that 36 of 52 young SCA victims (69%) harbored uncertain, likely pathogenic (LP), or pathogenic (P) variants. Eight subjects (15%) carried 9 LP/P variants. Patients with clinical histories suggesting primary arrhythmic syndromes or hypertrophic cardiomyopathy were more likely to harbor clinically actionable variants or variants of unknown significance (VUS), than subjects with myocarditis, sudden infant death syndrome, or sudden arrhythmic death. Variants were more likely to be classified as LP/P among Whites (8/9, 88.9%) as compared to non-Whites (1/9, 11.1%, p = 0.036). Conclusions: A notable proportion of young SCA victims in the community harbor rare, potentially disease-associated gene variants, and further studies are needed to understand variants of unknown significance. We identified differences by phenotype groups and race that have potential implications for genetic testing.

show abstract

Section: Discussionmentioning

confidence: 99%

Rare Genetic Variants Associated with Sudden Cardiac Arrest in the Young: A Prospective, Population-Based Study

Holmström

Chaudhary

Nakamura

et al. 2022

Preprint

View full text Add to dashboard Cite

show abstract

“…The initial work-up influences the diagnostic yield of the additional tests, resulting in different yields between SCA survivors (with limited diagnostic testing) compared to UCA survivors. When reviewing available cohort studies focusing on either UCA or IVF patients, it stands out that the performed diagnostic work-up is often not complete ( Tables S2 and S3 ) [ 4 , 5 , 17 , 18 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 ]. An incomplete diagnostic work-up leads to an inconsistent use (and possible overuse) of the terminology IVF in current literature [ 15 ].…”

Section: Defining Idiopathic Ventricular Fibrillationmentioning

confidence: 99%

State-of-the-Art Multimodality Imaging in Sudden Cardiac Arrest with Focus on Idiopathic Ventricular Fibrillation: A Review

Verheul

Groeneveld

Kirkels

et al. 2022

JCM

View full text Add to dashboard Cite

Idiopathic ventricular fibrillation is a rare cause of sudden cardiac arrest and a diagnosis by exclusion. Unraveling the mechanism of ventricular fibrillation is important for targeted management, and potentially for initiating family screening. Sudden cardiac arrest survivors undergo extensive clinical testing, with a growing role for multimodality imaging, before diagnosing “‘idiopathic” ventricular fibrillation. Multimodality imaging, considered as using multiple imaging modalities as diagnostics, is important for revealing structural myocardial abnormalities in patients with cardiac arrest. This review focuses on combining imaging modalities (echocardiography, cardiac magnetic resonance and computed tomography) and the electrocardiographic characterization of sudden cardiac arrest survivors and discusses the surplus value of multimodality imaging in the diagnostic routing of these patients. We focus on novel insights obtained through electrostructural and/or electromechanical imaging in apparently idiopathic ventricular fibrillation patients, with special attention to non-invasive electrocardiographic imaging.

show abstract

“…Investigations should begin with a detailed personal medical history, focusing on symptoms immediately prior to the event, and nature of events surrounding the cardiac arrest. One fifth of patients experience syncope or seizures prior to cardiac arrest 60 , although for many this is the sentinel event 61,62 . Cerebral anoxia during cardiac arrhythmias leading to seizure activity or convulsive syncope have been mistaken for epilepsy, and the results of any prior neurological investigations should be determined, which are often normal 63,64 .…”

Section: Clinical History and Examinationmentioning

confidence: 99%

Sudden Cardiac Arrest in the Paediatric Population

Franciosi

Abrams

Ingles

et al. 2022

CJC Pediatric and Congenital Heart Disease

Self Cite

View full text Add to dashboard Cite

Initially unexplained cardiac arrest in children and adolescents: A national experience from the Canadian Pediatric Heart Rhythm Network

Cited by 23 publications

References 31 publications

Rare Genetic Variants Associated with Sudden Cardiac Arrest in the Young: A Prospective, Population-Based Study

Rare Genetic Variants Associated with Sudden Cardiac Arrest in the Young: A Prospective, Population-Based Study

State-of-the-Art Multimodality Imaging in Sudden Cardiac Arrest with Focus on Idiopathic Ventricular Fibrillation: A Review

Sudden Cardiac Arrest in the Paediatric Population

Contact Info

Product

Resources

About