Expanded genetic testing in familial hypercholesterolemia-A single center's experience.

Objective: Assess the yield of genetic testing for pathogenic variants in ABCG5, ABCG8, LIPA, and APOE in individuals with personal and family histories suggestive of familial hypercholesterolemia. Methods: Retrospective review of patients seen in the Advanced Lipid Disorders Clinic at Johns Hopkins. Results: In the lipid clinic at a single center during the years 2015-2023, 607 patients underwent genetic testing for familial hypercholesterolemia, of which 263 underwent the expanded genetic testing for sitosterolemia. Eighty-eight patients had genetic testing which included APOE, and 22 patients had testing which included LIPA. Among these, one patient was identified to have a pathogenic variant in APOE and another patient with a pathogenic variant in ABCG5 (0.7 % yield). The frequency of a positive result was double that of a variant of uncertain significance. Conclusion: These data suggest in rare cases expanded testing can provide answers for patients and families with a minimal likelihood of a variant of uncertain significance.

Overcoming barriers to implementation: Improving incidental coronary calcium reporting on non-EKG gated chest CT scans.

BACKGROUND: Current guidelines recommend the reporting of incidental CAC on non-EKG-gated CT scans of the chest. The finding of incidental moderate or severe CAC on non-cardiac non-contrast chest CT correlates with a CAC score ≥ 100 Agatston units, a guideline-based indication for a clinician-patient discussion regarding the initiation of statin therapy. In contemporary practice, whether the presence and severity of incidental CAC are routinely reported on such CT scans of the chest is unknown. METHODS: At a major university hospital, we collected a one-month convenience sample of 297 patients who had chest CT imaging for indications other than lung cancer screening (OICT) and 42 patients who underwent lung cancer chest CT screening (LSCT). We evaluated reporting patterns of incidental CAC in the body and impression of the reports as compared to the overreading of such studies by a board-certified CT chest radiologist. We hypothesized and demonstrated that there was underreporting of incidental CAC on these scans. We then undertook an initiative to educate reporting radiologists on the importance of reporting CAC and implemented a reporting template change to encourage routine reporting. Then we repeated another one-month sample (n= 363 for the OICT and n= 63 for the LSCT groups) to evaluate reporting patterns following our intervention. RESULTS: The presence of incidental moderate and severe CAC was systematically underreported in the OICT group (0 and 4.8 %) and the severity was never mentioned in the impression of reports. In the LSCT group, the presence of incidental moderate and severe CAC was also underreported (66.7 % and 75 %) and the severity of CAC was mentioned 50 % of the time in the impression of the reports. Following the initiation of an educational program and radiology reporting template change, there was a significant increase in reporting of moderate or severe CAC in the OICT group (0 vs. 80.0 %, p < 0.001) and (4.8 vs. 93.5 %, p < 0.001) respectively and a significant increase in the reporting of the severity of incidental CAC for those with severe CAC in the LSCT group (50 vs. 94.1 %, p=0.006). CONCLUSION: Despite guideline recommendations, Incidental CAC was underreported at a large academic center. We implemented a system that significantly improved reporting patterns of incidental CAC. Failure to report incidental CAC represents a missed opportunity to initiate preventive therapies. Hospital systems interested in improving the quality of their radiology reporting procedures should examine their practices to assure that CAC quantification is routinely performed.

Prevalence and Disparities in Telehealth Use Among US Adults Following the COVID-19 Pandemic: National Cross-Sectional Survey.

BACKGROUND: Telemedicine expanded during the COVID-19 pandemic, though use differed by age, sex, race or ethnicity, educational attainment, income, and location. It is unclear if high telehealth use or inequities persisted late into the pandemic. OBJECTIVE: This study aims to evaluate the prevalence of, inequities in, and primary reasons for telehealth visits a year after telemedicine expansion. METHODS: We used cross-sectional data from the 2022 Health Information National Trends Survey (HINTS 6), the first cycle with data on telemedicine. In total, 4830 English- and Spanish-speaking US adults (aged ≥18 years) were included in this study. The primary outcomes were telehealth visit attendance in the 12 months before March 7, 2022, to November 8, 2022, and the primary reason for the most recent telehealth visit. We evaluated sociodemographic and clinical predictors of telehealth visit attendance and the primary reason for the most recent telehealth visit through Poisson regression. Analyses were weighted according to HINTS 6 standards. RESULTS: We included 4830 participants (mean age 48.3, SD 17.5 years; 50.28% women; 65.21% White). Among US adults, 38.78% reported having a telehealth visit in the previous year. Telehealth visit attendance rates were similar across age, race or ethnicity, income, and urban versus rural location. However, individuals with a telehealth visit were less likely to live in the Midwest (adjusted prevalence ratio [aPR] 0.65, 95% CI 0.54-0.77), and more likely to be women (aPR 1.21, 95% CI 1.06-1.38), college graduates or postgraduates (aPR 1.24, 95% CI 1.05-1.46), covered by health insurance (aPR 1.56, 95% CI 1.08-2.26), and married or cohabitating (aPR 1.17, 95% CI 1.03-1.32), adjusting for sociodemographic characteristics, frequency of health care visits, and comorbidities. Among participants with a telehealth visit in the past year, the primary reasons for their most recent visit were minor or acute illness (32.15%), chronic disease management (21%), mental health or substance abuse (16.94%), and an annual exam (16.22%). Older adults were more likely to report that the primary reason for their most recent telehealth visit was for chronic disease management (aPR 2.08, 95% CI 1.33-3.23), but less likely to report that it was for a mental health or substance abuse issue (aPR 0.19, 95% CI 0.10-0.35), adjusting for sociodemographic characteristics and frequency of health care visits. CONCLUSIONS: Among US adults, telehealth visit attendance was high more than a year after telemedicine expansion and did not differ by age, race or ethnicity, income, or urban versus rural location. Telehealth could continue to be leveraged following COVID-19 to improve access to care and health equity.

The importance of LDL-C lowering in atherosclerotic cardiovascular disease prevention: Lower for longer is better.

Cumulative exposure to low-density lipoprotein cholesterol (LDL-C) is a key driver of atherosclerotic cardiovascular disease (ASCVD) risk. An armamentarium of therapies to achieve robust and sustained reduction in LDL-C can reduce ASCVD risk. The gold standard for LDL-C assessment is ultracentrifugation but in routine clinical practice LDL-C is usually calculated and the most accurate calculation is the Martin/Hopkins equation. For primary prevention, consideration of estimated ASCVD risk frames decision making regarding use of statins and other therapies, and tools such as risk enhancing factors and coronary artery calcium enable tailoring of risk assessment and decision making. In patients with diabetes, lipid lowering therapy is recommended in most patients to reduce ASCVD risk with an opportunity to tailor therapy based on other risk factors. Patients with primary hypercholesterolemia and familial hypercholesterolemia (FH) with baseline LDL-C greater than or equal to 190 mg/dL are at elevated risk, and LDL-C lowering with high-intensity statin therapy is often combined with non-statin therapies to prevent ASCVD. Secondary prevention of ASCVD, including in patients with prior myocardial infarction or stroke, requires intensive lipid lowering therapy and lifestyle modification approaches. There is no established LDL-C level below which benefit ceases or safety concerns arise. When further LDL-C lowering is required beyond lifestyle modifications and statin therapy, additional medications include oral ezetimibe and bempedoic acid, or injectables such as PCSK9 monoclonal antibodies or siRNA therapy. A novel agent that acts independently of hepatic LDL receptors is evinacumab, which is approved for patients with homozygous FH. Other emerging agents are targeted at Lp(a) and CETP. In light of the expanding lipid treatment landscape, this manuscript reviews the importance of early, intensive, and sustained LDL-C-lowering for primary and secondary prevention of ASCVD.

Digital Health in Diabetes and Cardiovascular Disease.

BACKGROUND: Digital health technologies are rapidly evolving and transforming the care of diabetes and cardiovascular disease (CVD). PURPOSE OF THE REVIEW: In this review, we discuss emerging approaches incorporating digital health technologies to improve patient outcomes through a more continuous, accessible, proactive, and patient-centered approach. We discuss various mechanisms of potential benefit ranging from early detection to enhanced physiologic monitoring over time to helping shape important management decisions and engaging patients in their care. Furthermore, we discuss the potential for better individualization of management, which is particularly important in diseases with heterogeneous and complex manifestations, such as diabetes and cardiovascular disease. This narrative review explores ways to leverage digital health technology to better extend the reach of clinicians beyond the physical hospital and clinic spaces to address disparities in the diagnosis, treatment, and prevention of diabetes and cardiovascular disease. CONCLUSION: We are at the early stages of the shift to digital medicine, which holds substantial promise not only to improve patient outcomes but also to lower the costs of care. The review concludes by recognizing the challenges and limitations that need to be addressed for optimal implementation and impact. We present recommendations on how to navigate these challenges as well as goals and opportunities in utilizing digital health technology in the management of diabetes and prevention of adverse cardiovascular outcomes.

A Technology-Assisted Web Application for Consumer Access to a Nonprescription Statin Medication.

BACKGROUND: Although statins reduce adverse cardiovascular outcomes, less than one-half of eligible patients receive treatment. A nonprescription statin has the potential to improve access to statins. OBJECTIVES: This study sought to assess concordance between clinician and consumer assessment of eligibility for nonprescription statin treatment using a technology assisted self-selection Web application (Web App) and evaluate effect on low-density lipoprotein cholesterol (LDL-C) levels. METHODS: This study was a prospective actual use 6-month study to evaluate use of a Web App to qualify participants without a medical background for a moderate-intensity statin based on current guidelines. Participants entered demographic information, cholesterol values, blood pressure, and concomitant medications into the Web App, resulting in 3 possible outcomes: "do not use," "ask a doctor," and "OK to use." RESULTS: The study included 1,196 participants, with a median age of 63 years (Q1-Q3: 57-68 years); 39.6% were women, 79.3% were White, 11.7% were Black, and 4.1% had limited literacy. Mean LDL-C was 139.6 ± 28.3 mg/dL and the median calculated 10-year risk of atherosclerotic cardiovascular disease was 10.1% (Q1-Q3: 7.3%-14.0%). Initial Web App self-selection resulted in an outcome concordant with clinician assessment in 90.7% (95% CI: 88.9%-92.3%) of participants, and 98.1% (95% CI: 97.1%-98.8%) had a concordant final use outcome during treatment. Mean percent change in LDL-C was -35.5% (95% CI: -36.6% to -34.3%). Serious adverse events occurred in 27 (2.3%) participants, none related to the study drug. CONCLUSIONS: In this actual use study, a technology-assisted Web App allowed >90% of consumers to correctly self-select for statin use and achieve clinically important LDL-C reductions. (Technology-Assisted Cholesterol Trial in Consumers [TACTiC]; NCT04964544).

Satisfaction with Telehealth Care in the United States: Cross-Sectional Survey.

Background: Telehealth use remains high following the COVID-19 pandemic, but patient satisfaction with telehealth care is unclear. Methods: We used cross-sectional data from the Health Information National Trends Survey (HINTS 6). 2,058 English and Spanish-speaking U.S. adults (≥18 years) with a telehealth visit in the 12 months before March-November 2022 were included in this study. The primary outcomes were telehealth visit modality and satisfaction in the 12 months before HINTS 6. We evaluated sociodemographic predictors of telehealth visit modality and satisfaction via Poisson regression. Analyses were weighted according to HINTS standards. Results: We included 2,058 participants (48.4 ± 16.8 years; 57% women; 66% White), of which 70% had an audio-video and 30% an audio-only telehealth visit. Adults with an audio-video visit were more likely to have health insurance (adjusted prevalence ratio [aPR]: 1.55, 95% confidence interval [CI]: 1.18-2.04) and have an annual household income of ≥$75,000 (aPR: 1.18, 95% CI: 1.00-1.39) and less likely to be ≥65 years (aPR: 0.79, 95% CI: 0.70-0.89), adjusting for sociodemographic characteristics. No further inequities were noted by telehealth modality. Seventy-five percent of participants felt that their telehealth visits were as good as in-person care. No significant differences in telehealth satisfaction were observed across sociodemographic characteristics, telehealth modality, or the participants' primary reason for their most recent telehealth visit in adjusted analysis. Conclusions: Among U.S. adults with a telehealth visit, the majority had an audio-video visit and were satisfied with their care. Telehealth should continue, being offered following COVID-19, as it is uniformly valued by patients.

Rationale and Design of the mTECH-Rehab Randomized Controlled Trial: Impact of a Mobile Technology Enabled Corrie Cardiac Rehabilitation Program on Functional Status and Cardiovascular Health.

BACKGROUND: Cardiac rehabilitation (CR) is an evidence-based, guideline-recommended intervention for patients recovering from a cardiac event, surgery or procedure that improves morbidity, mortality, and functional status. CR is traditionally provided in-center, which limits access and engagement, most notably among underrepresented racial and ethnic groups due to barriers including cost, scheduling, and transportation access. This study is designed to evaluate the Corrie Hybrid CR, a technology-based, multicomponent health equity-focused intervention as an alternative to traditional in-center CR among patients recovering from a cardiac event, surgery, or procedure compared with usual care alone. METHODS: The mTECH-Rehab (Impact of a Mobile Technology Enabled Corrie CR Program) trial will randomize 200 patients who either have diagnosis of myocardial infarction or who undergo coronary artery bypass grafting surgery, percutaneous coronary intervention, heart valve repair, or replacement presenting to 4 hospitals in a large academic health system in Maryland, United States, to the Corrie Hybrid CR program combined with usual care CR (intervention group) or usual care CR alone (control group) in a parallel arm, randomized controlled trial. The Corrie Hybrid CR program leverages 5 components: (1) a patient-facing mobile application that encourages behavior change, patient empowerment, and engagement with guideline-directed therapy; (2) Food and Drug Administration-approved smart devices that collect health metrics; (3) 2 upfront in-center CR sessions to facilitate personalization, self-efficacy, and evaluation for the safety of home exercise, followed by a combination of in-center and home-based sessions per participant preference; (4) a clinician dashboard to track health data; and (5) weekly virtual coaching sessions delivered over 12 weeks for education, encouragement, and risk factor modification. The primary outcome is the mean difference between the intervention versus control groups in distance walked on the 6-minute walk test (ie, functional capacity) at 12 weeks post randomization. Key secondary and exploratory outcomes include improvement in a composite cardiovascular health metric, CR engagement, quality of life, health factors (including low-density lipoprotein-cholesterol, hemoglobin A1c, weight, diet, smoking cessation, blood pressure), and psychosocial factors. Approval for the study was granted by the local institutional review board. Results of the trial will be published once data collection and analysis have been completed. CONCLUSIONS: The Corrie Hybrid CR program has the potential to improve functional status, cardiovascular health, and CR engagement and advance equity in access to cardiac rehabilitation. REGISTRATION: URL: https://www.clinicaltrials.gov; Unique identifier: NCT05238103.

2024 Heart Disease and Stroke Statistics: A Report of US and Global Data From the American Heart Association.

BACKGROUND: The American Heart Association (AHA), in conjunction with the National Institutes of Health, annually reports the most up-to-date statistics related to heart disease, stroke, and cardiovascular risk factors, including core health behaviors (smoking, physical activity, nutrition, sleep, and obesity) and health factors (cholesterol, blood pressure, glucose control, and metabolic syndrome) that contribute to cardiovascular health. The AHA Heart Disease and Stroke Statistical Update presents the latest data on a range of major clinical heart and circulatory disease conditions (including stroke, brain health, complications of pregnancy, kidney disease, congenital heart disease, rhythm disorders, sudden cardiac arrest, subclinical atherosclerosis, coronary heart disease, cardiomyopathy, heart failure, valvular disease, venous thromboembolism, and peripheral artery disease) and the associated outcomes (including quality of care, procedures, and economic costs). METHODS: The AHA, through its Epidemiology and Prevention Statistics Committee, continuously monitors and evaluates sources of data on heart disease and stroke in the United States and globally to provide the most current information available in the annual Statistical Update with review of published literature through the year before writing. The 2024 AHA Statistical Update is the product of a full year's worth of effort in 2023 by dedicated volunteer clinicians and scientists, committed government professionals, and AHA staff members. The AHA strives to further understand and help heal health problems inflicted by structural racism, a public health crisis that can significantly damage physical and mental health and perpetuate disparities in access to health care, education, income, housing, and several other factors vital to healthy lives. This year's edition includes additional global data, as well as data on the monitoring and benefits of cardiovascular health in the population, with an enhanced focus on health equity across several key domains. RESULTS: Each of the chapters in the Statistical Update focuses on a different topic related to heart disease and stroke statistics. CONCLUSIONS: The Statistical Update represents a critical resource for the lay public, policymakers, media professionals, clinicians, health care administrators, researchers, health advocates, and others seeking the best available data on these factors and conditions.

A historical, evidence-based, and narrative review on commonly used dietary supplements in lipid-lowering.

Dietary supplements augment the nutritional value of everyday food intake and originate from the historical practices of ancient Egyptian (Ebers papyrus), Chinese (Pen Ts'ao by Shen Nung), Indian (Ayurveda), Greek (Hippocrates), and Arabic herbalists. In modern-day medicine, the use of dietary supplements continues to increase in popularity with greater than 50% of the US population reporting taking supplements. To further compound this trend, many patients believe that dietary supplements are equally or more effective than evidence-based therapies for lipoprotein and lipid-lowering. Supplements such as red yeast rice, omega-3 fatty acids, garlic, cinnamon, plant sterols, and turmeric are marketed to and believed by consumers to promote "cholesterol health." However, these supplements are not subjected to the same manufacturing scrutiny by the Food and Drug Administration as pharmaceutical drugs and as such, the exact contents and level of ingredients in each of these may vary. Furthermore, supplements do not have to demonstrate efficacy or safety before being marketed. The holistic approach to lowering atherosclerotic cardiovascular disease risk makes dietary supplements an attractive option to many patients; however, their use should not come at the expense of established therapies with proven benefits. In this narrative review, we provide a historical and evidence-based approach to the use of some dietary supplements in lipoprotein and lipid-lowering and provide a framework for managing patient expectations.

Strategies for Improving Enrollment of Diverse Populations with a Focus on Lipid-Lowering Clinical Trials.

PURPOSE OF REVIEW: We review under-representation of key demographic groups in cardiovascular clinical trials, focusing on lipid-lowering trials. We outline multilevel strategies to recruit and retain diverse populations in cardiovascular trials. RECENT FINDINGS: Barriers to participation in trials occur at the study, participant, health system, sponsor, and policy level, requiring a multilevel approach to effectively increase participation of under-represented groups in research. Increasing the representation of marginalized and under-represented groups in leadership positions in clinical trials can ensure that their perspectives and experiences are considered. Trial design should prioritize patient- and community-indicated needs. Women and individuals from racially/ethnically diverse populations remain under-represented in lipid-lowering and other cardiovascular clinical trials relative to their disease burden in the population. This limits the generalizability of trial results to the broader population in clinical practice. Collaboration between community stakeholders, researchers, and community members can facilitate shared learning about trials and build trust.

Use of Human-Centered Design Methodology to Develop a Digital Toolkit to Optimize Heart Failure Guideline-Directed Medical Therapy.

BACKGROUND: Guideline-directed medical therapies (GDMTs) improve quality of life and health outcomes for patients with heart failure (HF). However, GDMT utilization is suboptimal among patients with HF. OBJECTIVE: The aims of this study were to engage key stakeholders in semistructured, virtual human-centered design sessions to identify challenges in GDMT optimization posthospitalization and inform the development of a digital toolkit aimed at optimizing HF GDMTs. METHODS: For the human-centered design sessions, we recruited (a) clinicians who care for patients with HF across 3 hospital systems, (b) patients with HF with reduced ejection fraction (ejection fraction ≤ 40%) discharged from the hospital within 30 days of enrollment, and (c) caregivers. All participants were 18 years or older, English speaking, with Internet access. RESULTS: A total of 10 clinicians (median age, 37 years [interquartile range, 35-41], 12 years [interquartile range, 10-14] of experience caring for patients with HF, 80% women, 50% White, 50% nurse practitioners) and three patients and one caregiver (median age 57 years [IQR: 53-60], 75% men, 50% Black, 75% married) were included. Five themes emerged from the clinician sessions on challenges to GDMT optimization (eg, barriers to patient buy-in). Six themes on challenges (eg, managing medications), 4 themes on motivators (eg, regaining independence), and 3 themes on facilitators (eg, social support) to HF management arose from the patient and caregiver sessions. CONCLUSIONS: The clinician, patient, and caregiver insights identified through human-centered design will inform a digital toolkit aimed at optimizing HF GDMTs, including a patient-facing smartphone application and clinician dashboard. This digital toolkit will be evaluated in a multicenter, clinical trial.