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

The approach to resuscitating a trauma patient in shock is due for a major re-think.  For decades, providers have subscribed to the erroneous notion that large amounts of crystalloid are required to replace intravascular volume for the trauma patient in shock.  Not only is this not accurate, but it is also, in many cases, counterproductive, worsening both early and late trauma coagulopathy. The February 2018 issue of Emergency Medicine Clinics highlights the practical ways in which trauma care has evolved, and how the role of emergency care providers must evolve with it. In their , “The Evolving Science of Trauma Resuscitation,” Harris et al provide a more rational framework for managing massive hemorrhage, shifting the focus from “normalizing” problematic vital signs to adequate tissue perfusion and hemostasis. MORE

Time to add a fifth pillar to bedside physical examination: Inspection, palpation, percussion, auscultation, and insonation. Traditionally, the four pillars of bedside physical examination are inspection, palpation, percussion, and auscultation. In this paper, Drs. Narula, Chandrashekhar and Braunwald propose adding a fifth element—bedside ultrasound (or insonation).   This is timely for several reasons, including that current physical examination skills in new trainees are often suboptimal and efforts to improve examination skills during medical training have not been particularly successful. Also, point-of-care handheld ultrasound systems are now available that make bedside insonation imminently feasible. The newest devices are handheld, in some cases wireless, compatible with smartphone technologies, and, in one case, costing less than $2000. MORE

The optimal timing of mitral valve surgery in asymptomatic patients with primary mitral regurgitation (MR) remains controversial. Zilberszac et al sought to assess the 20-year outcome of an active surveillance strategy in a large population of patients with severe primary MR managed in a dedicated heart valve clinic. A total of 280 patients (mean age at baseline, 58 years; 31% female) with severe asymptomatic primary MR (prolapse of flail leaflet) were assessed between 1997 and 2015 and enrolled in a long-term follow-up program. All were prospectively followed every 6 months with clinical and echocardiographic examinations until surgical criteria were reached, at which time they were immediately referred to surgery. The researchers measured event-free survival and overall survival as compared with an age- and gender-matched general population. MORE