Early identification of coronary artery disease (CAD) is difficult using traditional risk factors and risk scores. While it is well known that CAD has substantial heritability and a polygenic architecture, genomic risk scores to help predict early CAD have yet to be shown especially effective. In this study, Inouye et al constructed a genomic risk score based on 1.7 million single nucleotide polymorphisms (SNPs) to predict lifetime risk trajectories for CAD. The researchers developed built a new genomic risk score for CAD (called metaGRS) using a meta-analytic approach to combine large-scale, genome-wide, and targeted genetic association data. The score was based on 3 other genetic risk scores and included 1.7 million genetic variants. MORE
Increasing numbers of patients are presenting with bioprosthetic mitral valve degeneration. Transcatheter mitral valve replacement (TMVR) is an emerging treatment for patients with severe mitral valve disease at high risk for conventional mitral valve surgery. Yoon et al sought to evaluate the outcomes of TMVR in patients with degenerated bioprostheses (valve-in-valve [ViV]), failed annuloplasty rings (valve-in-ring [ViR]), and severe mitral annular calcification (valve-in-mitral annular calcification [ViMAC]). Using data from the international, multicenter TMVR registry, procedural and clinical outcomes of ViV, ViR, and ViMAC were compared according to Mitral Valve Academic Research Consortium (MVARC) criteria. A total of 521 patients with mean Society of Thoracic Surgeons score of 9.0% underwent TMVR: 322 of them had ViV, 141 had ViR, and 58 had ViMAC. Trans-septal access was used in 39.5% and Sapien valves were used 90.0%. MORE
Increased left atrial pressure leading to pulmonary congestion is common in acute decompensated heart failure. The creation of an interatrial shunt for left atrial decompression has been successfully applied in selected patients, including in those with chronic HF, and has shown early promise. Rodes-Cabau et al reported first-in-human data on the V-Wave Interatrial Shunt, an hourglass-shaped implant containing a 1-way bioprosthetic valve that is implanted by transseptal catheterization. In this single-arm, open-label study, 38 heart failure patients (mean age, 66 years; 30 with reduced ejection fraction and 8 with preserved ejection fraction) were implanted with the shunt device. Thirty-seven patients had NYHA class III symptoms and one patient had class IV symptoms. MORE
Sequencing a broader range of genes along with intronic and intergenic regions, with greater sensitivity for structural variation could be expected to “greatly improve the diagnostic rate, but the gains in this domain appear relatively muted,” wrote editorialists led by Dr. E Ashley. The findings of this study are intriguing, particularly the yield from “interrogating deep intronic variants…” and demonstrate the “potential incremental value of genome sequencing” in HCM, but there are several challenges remaining before this technology can be deployed. MORE