Genetic therapies for cardiomyopathy: survey of attitudes of the patient community for the CureHeart project.

Cardiomyopathies are a group of inherited heart muscle disorders. Expressivity is variable and while sometimes mild, complications can result in sudden cardiac death (SCD) at any age, heart failure and stroke. In around a third of patients a monogenic cause is identifiable, and development of genetic therapies that aim to correct the underlying genetic defect is underway. Here we describe results of a survey designed to understand preliminary views of the patient community about genetic therapies in the context of disease burden. The internet survey was publicized with a bespoke information video via patient support groups in the UK and USA; 634 people responded of whom 96% had a personal and/or family history of cardiomyopathy. Findings show that concern about cardiomyopathy-related issues with a future dimension, such as disease progression, is significantly greater than concern about current issues. A total of 93.6% thought that genetic therapies should be developed for cardiomyopathy. A majority would consider participation in a genetic therapy trial in six scenarios varying by age and clinical situation significantly more in the scenario of an adult with symptomatic disease and evident progression than an asymptomatic adult with SCD risk, or a child. In all scenarios, a majority said that the chance genetic therapy would stop or slow progression, and risk of serious adverse and unintended effects, were important considerations. Qualitative analysis of free-text responses found that concern was often informed by family experience. Patient consideration of genetic therapy is likely to require individualized assessment of the benefits and risks.

Epidemiology of cardiomyopathies and incident heart failure in a population-based cohort study.

AIMS: The population prevalence of cardiomyopathies and the natural history of symptomatic heart failure (HF) and arrhythmia across cardiomyopathy phenotypes is poorly understood. Study aims were to estimate the population-diagnosed prevalence of cardiomyopathies and describe the temporal relationship between a diagnosis of cardiomyopathy with HF and arrhythmia. METHODS: People with cardiomyopathy (n=4116) were identified from linked electronic health records (~9 million individuals; 2000-2018) and categorised into hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), arrhythmogenic right ventricular cardiomyopathy (ARVC), restrictive cardiomyopathy (RCM) and cardiac amyloidosis (CA). Cardiomyopathy point prevalence, rates of symptomatic HF and arrhythmia and timing relative to a diagnosis of cardiomyopathy were determined. RESULTS: In 2018, DCM was the most common cardiomyopathy. DCM and HCM were twice as common among men, with the reverse trend for ARVC. Between 2010 and 2018, prevalence increased for ARVC by 180% and HCM by 9%. At diagnosis, more patients with CA (66%), DCM (56%) and RCM (62%) had pre-existing HF compared with ARVC (29%) and HCM (27%). Among those free of HF at diagnosis of cardiomyopathy, annualised HF incidence was greatest in CA and DCM. Diagnoses of all cardiomyopathies clustered around the time of HF onset. CONCLUSIONS: The recorded prevalence of all cardiomyopathies increased over the past decade. Recognition of CA is generally preceded by HF, whereas individuals with ARVC or HCM more often developed HF after their cardiomyopathy diagnosis suggesting a more indolent course or better asymptomatic recognition. The clustering of HF and cardiomyopathy diagnoses suggests opportunities for presymptomatic or earlier diagnosis.

Evaluation of potential environmental contamination sources for the presence of multidrug-resistant bacteria linked to wound infections in combat casualties.

OBJECTIVE: To determine whether multidrug-resistant (MDR) gram-negative organisms are present in Afghanistan or Iraq soil samples, contaminate standard deployed hospital or modular operating rooms (ORs), or aerosolize during surgical procedures. DESIGN: Active surveillance. SETTING: US military hospitals in the United States, Afghanistan, and Iraq. METHODS: Soil samples were collected from sites throughout Afghanistan and Iraq and analyzed for presence of MDR bacteria. Environmental sampling of selected newly established modular and deployed OR high-touch surfaces and equipment was performed to determine the presence of bacterial contamination. Gram-negative bacteria aerosolization during OR surgical procedures was determined by microbiological analysis of settle plate growth. RESULTS: Subsurface soil sample isolates recovered in Afghanistan and Iraq included various pansusceptible members of Enterobacteriaceae, Vibrio species, Pseudomonas species, Acinetobacter lwoffii, and coagulase-negative Staphylococcus (CNS). OR contamination studies in Afghanistan revealed 1 surface with a Micrococcus luteus. Newly established US-based modular ORs and the colocated fixed-facility ORs revealed no gram-negative bacterial contamination prior to the opening of the modular OR and 5 weeks later. Bacterial aerosolization during surgery in a deployed fixed hospital revealed a mean gram-negative bacteria colony count of 12.8 colony-forming units (CFU)/dm(2)/h (standard deviation [SD], 17.0) during surgeries and 6.5 CFU/dm(2)/h (SD, 7.5; [Formula: see text]) when the OR was not in use. CONCLUSION: This study demonstrates no significant gram-negative bacilli colonization of modular and fixed-facility ORs or dirt and no significant aerosolization of these bacilli during surgical procedures. These results lend additional support to the role of nosocomial transmission of MDR pathogens or the colonization of the patient themselves prior to injury.

Resident perceptions of the impact of paging on intraoperative education.

Our purpose was to evaluate the impact of paging on perceptions of intraoperative learning. Intraoperative logs of pager interruptions were kept by surgical residents at a university hospital over a 30-day period. The postgraduate year, number of pages, category of caller, reason for call, and level of urgency were recorded during each operation. At the conclusion of each operation, residents also completed a two-item survey with responses on a 5-point scale (1 = strongly disagree to 5 = strongly agree), querying if interruptions negatively impacted the intraoperative experience and if a message taken by a third party was effective in limiting interruptions. Logs were completed for 124 of 204 operations. Fifty-five per cent of operations were interrupted at least once with 49 per cent interrupted two to five times and 6 per cent were interrupted six or more times. Junior residents had 69 per cent of their operations interrupted compared with 39 per cent of senior residents (P = 0.001). Ninety-two per cent of pages were nonurgent. Residents did not perceive pager interruptions negatively impacted their educational experience (mean 2.3) but were neutral with respect if messages taken by a third party decreased interruptions (mean 3.8). Although our hypothesis was that pager interruptions were frequent and disrupt resident education, our data demonstrate the opposite.

Disparity between resident and faculty surgeons' perceptions of preoperative preparation, intraoperative teaching, and postoperative feedback.

PURPOSE: The education occurring within the operating room is fundamental to the development of a surgical resident. The purpose of this study was to investigate differing perceptions of surgical residents and faculty in regard to preoperative preparation, intraoperative teaching, and postoperative feedback. METHODS: A validated survey tool was slightly adapted, piloted, and then administered to the surgical residents and faculty of a university-based general surgery residency program. The wording of the survey was specific to either residents or faculty and consisted of similar questions with responses on a 5-point Likert scale (1: strongly disagree to 5: strongly agree). The responses of the 2 groups for each question were averaged and compared using Wilcoxon-Mann-Whitney test to determine significant differences. RESULTS: In all, 27 residents and 30 faculty members completed the survey for a response rate of 100%. With respect to preoperative preparation, significant differences were found in perceptions about reading (4.22 vs 2.59; p < 0.001) and anatomy review (4.11 vs 2.31; p < 0.001) before the procedure. Considering intraoperative perceptions, significant differences were found with respect to teaching the operative steps (3.59 vs 4.06 p = 0.048), surgical skills (2.85 vs 3.78; p = 0.001), instrument handling (3.19 vs 4.00; p = 0.002), and surgical technique (3.44 vs 4.28; p < 0.001). Significant disagreement was found in the perceived effort of the faculty to act as a teacher in the operating room (3.56 vs 4.09; p < 0.007). Postoperatively, significant differences were found in perceptions of positive feedback (2.63 vs 3.34; p = 0.01) and feedback on areas to improve (2.78 vs 3.50; p = 0.009). CONCLUSIONS: Although there is agreement on the need to improve intraoperative education, there is significant disparity in perceptions of preoperative preparation as well as intraoperative and postoperative feedback between residents and surgical faculty.