Coronary artery calcification as an incremental predictive risk: Research perspectives in primary prevention.

Coronary artery calcium (CAC) score is a neglected biomarker that can be derived from non-cardiac chest computed tomography scan and represents a surrogate for atherosclerosis. We created a simulation model using different CAC score values in the MESA coronary artery risk score in a population derived from the Fourier Trial. CAC score could modulate the sample sizes of cardiovascular trials in primary and secondary prevention and offer new primary prevention treatments to high-risk subjects with reasonable numbers needed to treat comparable to secondary prevention trials.

Expanding the clinical spectrum of PPP3CA variants - alternative isoforms matter.

Background: the protein phosphatase 3 catalytic subunit alpha (PPP3CA) gene encodes for the alpha isoform of the calcineurin catalytic subunit, which controls the phosphorylation status of many targets. Currently, 23 pathogenic variants of PPP3CA are known, with clinical manifestations varying by mutation type and domain.

Results: through whole exome sequencing, we found two de novo variants in PPP3CA: a frameshift variant predicted leading to a truncated protein in Pt.

Urgent Coronary Angiography Following Cardiac Surgery: Insights from a High-Volume Cardiac Surgery Center.

Background: Post-operative myocardial infarction is a possible complication following cardiac surgery. Data on the incidence, predictors and prognosis of urgent coronary angiography (UCA) after cardiac surgery are scarce.

Aims (objectives): This study aims to report in hospital and 1-year follow-up outcomes of a recent large cohort of patients undergoing UCA after cardiac surgery.

Inferring disease course from differential exon usage in the wide titinopathy spectrum.

Objective: Biallelic titin truncating variants (TTNtv) have been associated with a wide phenotypic spectrum, ranging from complex prenatal muscle diseases with dysmorphic features to adult-onset limb-girdle muscular dystrophy, with or without cardiac involvement. Given the size and complexity of TTN, reaching an unequivocal molecular diagnosis and precise disease prognosis remains challenging.

Methods: In this case series, 12 unpublished cases and one already published case with biallelic TTNtv were collected from multiple international medical centers between November 2022 and September 2023.