1. In this cohort study of families with suspected Mendelian disorders for whom preliminary genetic testing had not revealed a diagnosis, nearly one-third of families obtained a plausible molecular diagnosis after genome sequencing. 2. While enhancing prior exome sequencing likely would have revealed the causal variants in most cases, over one-quarter of the new diagnoses
1. In this randomized controlled trial, adults with mixed hyperlipidemia who received zodasiran had dose-dependent decreases in triglyceride levels compared to those who received placebo. 2. Patients who received the highest dose of zodasiran had transiently increased glycated hemoglobin levels, returning to baseline with treatment. Evidence Rating Level: 1 (Excellent) Study Rundown: Mixed hyperlipidemia is
1. In this randomized controlled trial, aficamten significantly improved peak oxygen uptake in patients with symptomatic obstructive hypertrophic cardiomyopathy (HCM) compared with placebo. 2. The results for all 10 secondary endpoints were significantly improved with aficamten. Evidence Rating Level: 1 (Excellent) Study Rundown: HCM is one of the most common genetic heart diseases and is
1. In this retrospective cohort study, among patients with type 2 diabetes (T2D) and stage five chronic kidney disease (CKD), the use of a sodium-glucose cotransporter-2 inhibitor (SGLT2i) was associated with a lower risk of dialysis, cardiovascular events, diabetic ketoacidosis (DKA), and acute kidney injury (AKI). 2. SGLT2i use was not associated with a difference
1. In this randomized controlled trial, it was found that those who received transcatheter aortic valve replacement (TAVI) did not have an increased risk of stroke and all-cause mortality compared to those who received surgical replacement (SAVR). 2. Those who underwent a transcatheter procedure had significantly fewer major bleeding events compared to those who underwent