Imagenomics and Ventricular Arrhythmia: The Scar, The Channel, The Variant.

Background: Imagenomics is an emerging clinical framework that combines advanced imaging and genetic profiling to refine risk stratification and advance precision medicine in the management of ventricular arrhythmias.

Case Summary: A 43-year-old woman presented with palpitations and presyncope. Ambulatory electrocardiogram revealed frequent premature ventricular contractions and nonsustained ventricular tachycardia, consistently initiated by a premature ventricular contraction with distinct morphology.

The contribution of truncating variants to human cardiomyopathy.

Background: Genetic diagnosis has become increasingly important to guide clinical decision making for patients with dilated cardiomyopathy (DCM). Disease-causing (P/LP) missense variants in the gene cause a highly penetrant arrhythmogenic dilated cardiomyopathy (DCM), but the role of truncating variants ( ) is unclear.

Objective: Assess the contribution of to DCM.

Novel Method for Predicting Lp(a) From Genomic Testing Identifies ASCVD Risk Across a Diverse Cohort.

Lipoprotein(a) (Lp[a]) is a genetic and often unmeasured contributor to atherosclerotic cardiovascular disease (ASCVD) risk. In this study, Lp(a) was estimated from exome data by quantifying Kringle IV subtype 2 repeats alongside a single-nucleotide variant-based genetic risk score. This method was applied to a diverse cohort (N = 76,147) from the Helix Research Network.

Left ventricular wall thickness heterogeneity improves cardiovascular disease diagnosis and prognosis: a UK Biobank cardiovascular magnetic resonance cohort study.

Aims: Left ventricular hypertrophy (LVH) regionality carries diagnostic and prognostic importance. Mean absolute deviation of maximum segmental wall thickness () is a novel left ventricular wall thickness (LVWT) heterogeneity biomarker from cardiovascular magnetic resonance imaging (CMR).

Objectives: To compare to indexed LV mass (), maximum () and mean () wall thickness to predict incident cardiovascular disease (CVD) and differentiate physiological from pathological LVH in highly physically active individuals.

Association of Pathogenic/Likely Pathogenic Genetic Variants for Cardiomyopathies With Clinical Outcomes: A Multiancestry Analysis in the All of Us Research Program.

Background: This study aimed to evaluate the prevalence of pathogenic/likely pathogenic cardiomyopathy variant carriers in a multiancestry US population and examine the risk of adverse clinical outcomes.

Methods: This retrospective cohort study included multiancestry US adults aged ≥18 years with sequencing data from the All of Us Research Program. Pathogenic/likely pathogenic variants in cardiomyopathy genes were identified using the ClinVar database.