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1.
Mol Genet Genomic Med ; 7(11): e940, 2019 11.
Article in English | MEDLINE | ID: mdl-31482667

ABSTRACT

BACKGROUND: Individuals with hypertrophic cardiomyopathy (HCM), even when asymptomatic, are at-risk for sudden cardiac death and stroke from arrhythmias, making it imperative to identify individuals affected by this familial disorder. Consensus guidelines recommend that first-degree relatives (FDRs) of a person with HCM undergo serial cardiovascular evaluations. METHODS: We determined the uptake of family screening in patients with HCM and developed an online video intervention to facilitate family communication and screening. Family screening and genetic testing data were collected through a prospective quality improvement initiative, a standardized clinical assessment and management plan (SCAMP), utilized in an established cardiovascular genetics clinic. Patients were prescribed an online video if screening of their FDRs was incomplete and a pilot study on video utilization and family communication was conducted. RESULTS: Two-hundred and sixteen probands with HCM were enrolled in SCAMP Phase I and 190 were enrolled in SCAMP Phase II. In both phases, probands reported that 51% of FDRs had been screened (382/749 in Phase I, 258/504 in Phase II). Twenty patients participated in a pilot study on video utilization and family communication. Nine participants reported watching the video and six participants reported sharing the video with relatives; however only one participant reported sharing the video with relatives who were not yet aware of the diagnosis of HCM in the family. CONCLUSION: Despite care in a specialized cardiovascular genetics clinic, approximately one half of FDRs of patients with HCM remained unscreened. Online interventions and videos may serve as supplemental tools for patients communicating genetic risk information to relatives.


Subject(s)
Cardiomyopathy, Hypertrophic/diagnosis , Genetic Predisposition to Disease , Genetic Testing/methods , Health Education/methods , Mass Screening/psychology , Online Systems , Patient Participation/psychology , Cardiomyopathy, Hypertrophic/genetics , Cardiomyopathy, Hypertrophic/psychology , Family , Female , Follow-Up Studies , Genetic Testing/trends , Health Communication , Health Promotion/methods , Humans , Male , Mass Screening/statistics & numerical data , Middle Aged , Patient Acceptance of Health Care , Patient Participation/statistics & numerical data , Pilot Projects , Prognosis , Prospective Studies
2.
Crit Pathw Cardiol ; 15(4): 131-137, 2016 12.
Article in English | MEDLINE | ID: mdl-27846004

ABSTRACT

OBJECTIVES: Chest pain is a common complaint in the emergency department, and a small but important minority represents an acute coronary syndrome (ACS). Variation in diagnostic workup, risk stratification, and management may result in underuse, misuse, and/or overuse of resources. METHODS: From July to October 2014, we conducted a prospective cohort study in an academic medical center by implementing a Standardized Clinical Assessment and Management Plan (SCAMP) for chest pain based on the HEART score. In addition to capturing adherence to the SCAMP algorithm and reasons for any deviations, we measured troponin sample timing; rates of stress test utilization; length of stay (LOS); and 30-day rates of revascularization, ACS, and death. RESULTS: We identified 239 patients during the enrollment period who were eligible to enter the SCAMP, of whom 97 patients were entered into the pathway. Patients were risk stratified into one of 3 risk tiers: high (n = 3), intermediate (n = 40), and low (n = 54). Among low-risk patients, recommendations for troponin testing were not followed in 56%, and 11% received stress tests contrary to the SCAMP recommendation. None of the low-risk patients had elevated troponin measurements, and none had an abnormal stress test. Mean LOS in low-risk patients managed with discordant plans was 22:26 h/min, compared with 9:13 h/min in concordant patients (P < 0.001). Mean LOS in intermediate-risk patients with stress testing was 25:53 h/min, compared with 7:55 h/min for those without (P < 0.001). At 30 days, 10% of intermediate-risk patients and 0% of low-risk patients experienced an ACS event (risk difference 10% [0.7%-19%]); none experienced revascularization or death. The most frequently cited reason for deviation from the SCAMP was lack of confidence in the tool. CONCLUSIONS: Compliance with SCAMP recommendations for low- and intermediate-risk patients was poor, largely due to lack of confidence in the tool. However, in our study population, outcomes suggest that deviation from the SCAMP yielded no additional clinical benefit while significantly prolonging emergency department LOS.


Subject(s)
Acute Coronary Syndrome/complications , Chest Pain/epidemiology , Critical Pathways/standards , Disease Management , Quality Improvement , Risk Assessment , Acute Coronary Syndrome/diagnosis , Acute Coronary Syndrome/therapy , Aged , Algorithms , Chest Pain/diagnosis , Chest Pain/therapy , Decision Making , Electrocardiography , Emergency Service, Hospital , Exercise Test , Female , Follow-Up Studies , Humans , Incidence , Male , Middle Aged , Prognosis , Prospective Studies , Risk Factors
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