A Case Report of Genetic Cascade Screening in Dilated Cardio-myopathy: A Perspective for Preventive Cardiology

Cardiomyopathies are heterogeneous and critical disorders of cardiovascular diseases. One of the most common inherited cardiomyopathies is DCM (dilated cardiomyopathy). Genetic disorders are found in approximately 50% of DCM cases. We aimed to describe a case of DCM in a 42-year-old woman in 2018 at Farhud Genetic Clinic, Tehran, Iran. To detect genetic involvement, Next-generation sequencing (NGS) was performed and the data were evaluated carefully. Variations in different genes coding crucial proteins in cardiac muscle structure (i.e. Titin, Obscurin, MYH6, and LAMA4) and proteins involved in channels (i.e. CAVNA1C, SCN1B and SCN5A) were detected by whole-exome sequencing (WES). In agreement with the clinical manifestations and molecular analysis, DCM was confirmed. This study provides further evidence on the diagnostic role of NGS in borderline DCM cases. It also shows the recently developed high throughput sequencing can provide clinicians with this approach to diagnosis, treatment, and prevention of such hard-to-diagnose disorders. Furthermore, this study highlights the basis of personalized medicine, namely detection of high-risk individuals by revealing some genetic variants as predictive risk factors, and initial prevention of DCM.

Actionable absolute risk prediction of atherosclerotic cardiovascular disease: a behavior-management approach based on data from 464,547 UK Biobank participants

Cardiovascular diseases (CVDs) are the primary cause of all global death. Timely and accurate identification of people at risk of developing an atherosclerotic CVD and its sequelae, via risk prediction model, is a central pillar of preventive cardiology. However, currently available models only consider a limited set of risk factors and outcomes, do not focus on providing actionable advice to individuals based on their holistic medical state and lifestyle, are often not interpretable, were built with small cohort sizes or are based on lifestyle data from the 1960s, e.g. the Framingham model. The risk of developing atherosclerotic CVDs is heavily lifestyle dependent, potentially making a high percentage of occurrences preventable. Providing actionable and accurate risk prediction tools to the public could assist in atherosclerotic CVD prevention. We developed a benchmarking pipeline to find the best set of data preprocessing and algorithms to predict absolute 10-year atherosclerotic CVD risk. Based on the data of 464,547 UK Biobank participants without atherosclerotic CVD at baseline, we used a comprehensive set of 203 consolidated risk factors associated with atherosclerosis and its sequelae (e.g. heart failure). Our two best performing absolute atherosclerotic risk prediction models provided higher performance than Framingham and QRisk3. Using a subset of 25 risk factors identified with feature selection, our reduced model achieves similar performance while being less complex. Further, it is interpretable, actionable and highly generalizable. The model could be incorporated into clinical practice and could allow continuous personalized predictions with automated intervention suggestions.

Preventive Cardiology in the Digital and COVID-19 Era: A Brave New World within the Veterans Health Administration

The past year challenged patients, health care providers, and health systems alike to adapt and recalibrate to meet healthcare needs within pandemic constraints. The coronavirus 2019 (COVID-19) pandemic has radically interfered with the accessibility and delivery of cardiovascular care in the United States. With an emphasis on social distancing and stay-at-home orders in effect, many Americans delayed seeking routine medical care and treatment for acute cardiac symptoms due to fear of contracting the coronavirus. The COVID-19 pandemic compelled a rapid shift toward virtual care solutions across cardiovascular domains. The U.S Department of Veterans Affairs (VA) expanded virtual modalities, notably in specialty care and rehabilitation, which offered secure solutions to maintain treatment continuity. Within the VA and other health systems, virtual cardiac rehabilitation (CR) was embraced as an efficacious alternative to on-site cardiac rehabilitation that enabled patients to receive cardiac care remotely. Leveraging the infrastructure and lessons learned from the pandemic-induced expansion of virtual care carries enormous potential to refine virtual CR and revitalize future treatment paradigms for cardiovascular disease patients.

The Prevalence of Erectile Dysfunction and Its Association with Cardiovascular Risk Factors in Patients after Myocardial Infarction

Background and Objectives: This study estimates the prevalence and severity of erectile dysfunction and its association with cardiovascular risk factors in patients after a myocardial infarction. Materials and Methods: This study included men aged 35–80 years, diagnosed with myocardial infarction and examined in the Department of Preventive Cardiology of Vilnius University Hospital Santaros Klinikos between 2016 and 2020. Anthropometric characteristics, blood pressure, lipid profile, blood glucose levels and prevalence of cardiovascular risk factors were evaluated. The International Index of Erectile Function-5 was used to assess patients’ erectile function. Results: A total of 171 patients were analysed. The mean age was 57.6 ± 8.8 years. Of the patients, 42.1, 25.1 and 11.7% had three, four and five established cardiovascular risk factors, respectively. Of the patients, 100% were diagnosed with dyslipidaemia, 90.0%—arterial hypertension, 14.6%—diabetes, 23.3%—smoking, 43.7%—positive familial history and 54.5%—insufficient physical activity. The overall prevalence of erectile dysfunction was 62%. It was scored mild in 37.4%, mild-to-moderate—15.2%, moderate—5.3% and severe in 4.1% of the patients. The mean age was significantly different between severity groups (p < 0.001). The study demonstrated a negative correlation between age and total score of the questionnaire (r = −0.308, p < 0.001). Arterial hypertension was more frequent in the patients with erectile dysfunction (p = 0.02). Other cardiovascular risk factors were distributed similarly. Conclusions: Erectile dysfunction is common in patients after a myocardial infarction and its severity is age dependent. The prevalence of cardiovascular risk factors is high, with arterial hypertension significantly more frequent in patients with erectile dysfunction.

Advances in Technology and Remote Cardiac Monitoring: Living the future of cardiovascular technology

Hospital administrations and providers are more than ever in need for new technologies and innovative methods with clinical benefit at lower costs. Surgeons and clinicians depend on conventional risk stratification scores developed to allow physicians to establish the risk of perioperative mortality. However, the current practiced models of preventive cardiology largely depend on patient motivation and awareness to be able to apply such risk scores appropriately. It was not until the appearance of miniaturized pocket-sized, user-friendly digital technologies that the awareness started to grow, highlighting the importance of role of technology and artificial intelligence (AI) in modern day medicine.

Initial Outcomes of CardioClick, a Telehealth Program for Preventive Cardiac Care: Observational Study

Background Telehealth use has increased in specialty clinics, but there is limited evidence on the outcomes of telehealth in primary cardiovascular disease (CVD) prevention. Objective The objective of this study was to evaluate the initial outcomes of CardioClick, a telehealth primary CVD prevention program. Methods In 2017, the Stanford South Asian Translational Heart Initiative (a preventive cardiology clinic focused on high-risk South Asian patients) introduced CardioClick, which is a clinical pathway replacing in-person follow-up visits with video visits. We assessed patient engagement and changes in CVD risk factors in CardioClick patients and in a historical in-person cohort from the same clinic. Results In this study, 118 CardioClick patients and 441 patients who received in-person care were included. CardioClick patients were more likely to complete the clinic’s CVD prevention program (76/118, 64.4% vs 173/441, 39.2%, respectively; P<.001) and they did so in lesser time (mean, 250 days vs 307 days, respectively; P<.001) than the patients in the historical in-person cohort. Patients who completed the CardioClick program achieved reductions in CVD risk factors, including blood pressure, lipid concentrations, and BMI, which matched or exceeded those observed in the historical in-person cohort. Conclusions Telehealth can be used to deliver care effectively in a preventive cardiology clinic setting and may result in increased patient engagement. Further studies on telehealth outcomes are needed to determine the optimal role of virtual care models across diverse preventive medicine clinics.