scholarly journals Moving Beyond Clinical Risk Scores with a Mobile App for the Genomic Risk of Coronary Artery Disease

2017 ◽  
Author(s):  
Evan D. Muse ◽  
Nathan E. Wineinger ◽  
Brian Schrader ◽  
Bhuvan Molparia ◽  
Emily G. Spencer ◽  
...  

SUMMARYPrimary prevention of coronary artery disease (CAD) is important for individuals at increased risk, and largely consists of healthy lifestyle modifications and initiation of medications when appropriate – including statins. Defining the inherent risk for any given individual typically relies on traditional risk factors established decades ago by the Framingham Heart Study. Unfortunately, recent studies have indicated that these traditional clinical risk factors systematically overestimate the risk of CAD across all major ancestries. This has increased the number of patients that would be eligible for statin therapy for the primary prevention of CAD but would likely receive little benefit and potentially incur negative consequences. On the other hand, researchers have demonstrated that genetic factors can effectively identify a subset of high risk individuals, and that the benefit from statin therapy is greatest among individuals with the highest genetic risk score (GRS). These individuals also receive the greatest absolute benefit from healthy lifestyle choices, being able to titrate their risk to normal levels despite high genetic predisposition. However, it is not yet possible for the average individual to discover their genetic risk because no tools are currently available to make such a determination. Here, we present a free mobile app – MyGeneRank – that can provide this information. Individuals may choose to use this knowledge to complement traditional risk assessments, and make critical decisions regarding lifelong statin therapy and lifestyle changes. As of 1/25/2017, MyGeneRank is currently in closed beta and will soon be available to the public.

2020 ◽  
Vol 21 (5) ◽  
pp. 382-398
Author(s):  
Robert Roberts ◽  
Chih Chao Chang

Introduction: To halt the spread of coronary artery disease (CAD), the number one killer in the world, requires primary prevention. Fifty percent of all Americans are expected to experience a cardiac event; the challenge is identifying those at risk. 40 to 60% of predisposition to CAD is genetic. The first genetic risk variant, 9p21, was discovered in 2007. Genome-Wide Association Studies has since discovered hundreds of genetic risk variants. The genetic burden for CAD can be expressed as a single number, Genetic Risk Score (GRS). Assessment of GRS to risk stratify for CAD was superior to conventional risk factors in several large clinical trials assessing statin therapy, and more recently in a population of nearly 500,000 (UK Biobank). Studies were performed based on prospective genetic risk stratification for CAD. These studies showed that a favorable lifestyle was associated with a 46% reduction in cardiac events and programmed exercise, a 50% reduction in cardiac events. Genetic risk score is superior to conventional risk factors, and is markedly attenuated by lifestyle changes and drug therapy. Genetic risk can be determined at birth or any time thereafter. Conclusion: Utilizing the GRS to risk stratify young, asymptomatic individuals could provide a paradigm shift in the primary prevention of CAD and significantly halt its spread.


Angiology ◽  
2021 ◽  
pp. 000331972110280
Author(s):  
Sukru Arslan ◽  
Ahmet Yildiz ◽  
Okay Abaci ◽  
Urfan Jafarov ◽  
Servet Batit ◽  
...  

The data with respect to stable coronary artery disease (SCAD) are mainly confined to main vessel disease. However, there is a lack of information and long-term outcomes regarding isolated side branch disease. This study aimed to evaluate long-term major adverse cardiac and cerebrovascular events (MACCEs) in patients with isolated side branch coronary artery disease (CAD). A total of 437 patients with isolated side branch SCAD were included. After a median follow-up of 38 months, the overall MACCE and all-cause mortality rates were 14.6% and 5.9%, respectively. Among angiographic features, 68.2% of patients had diagonal artery and 82.2% had ostial lesions. In 28.8% of patients, the vessel diameter was ≥2.75 mm. According to the American College of Cardiology lesion classification, 84.2% of patients had either class B or C lesions. Age, ostial lesions, glycated hemoglobin A1c, and neutrophil levels were independent predictors of MACCE. On the other hand, side branch location, vessel diameter, and lesion complexity did not affect outcomes. Clinical risk factors seem to have a greater impact on MACCE rather than lesion morphology. Therefore, the treatment of clinical risk factors is of paramount importance in these patients.


ESC CardioMed ◽  
2018 ◽  
pp. 2989-2991
Author(s):  
Thorsten Kessler ◽  
Heribert Schunkert

Coronary artery disease and myocardial infarction are main causes of morbidity and mortality. In the past decades, several modifiable and non-modifiable risk factors underlying the disease have been identified. Recently, genome-wide association studies and next generation sequencing led to the discovery of genetic risk factors. Knowledge of these genetic risk factors has been shown to help to understand the pathophysiology of coronary atherosclerosis. Their knowledge might also be useful in risk prediction and diagnostics. Ultimately, an integrated approach using genetic information and novel imaging technologies should improve treatment strategies towards a personalized medicine. Here, we want to summarize recent findings in this research field and provide insight how these developments could be used to improve prevention and treatment of coronary atherosclerosis and its sequelae.


2019 ◽  
Vol 40 (Supplement_1) ◽  
Author(s):  
J Sousa ◽  
M Mendonca ◽  
A Pereira ◽  
F Mendonca ◽  
M Neto ◽  
...  

Abstract Introduction The complex interaction between genes and environmental factors contribute to individual-level risk of coronary artery disease (CAD), often resulting in premature CAD. The role for genetic risk scores in premature CAD is still controversial. Objective To evaluate the importance of conventional risk factors and of a genetic risk score in younger and older patients with coronary artery disease Methods From a group of 1619 pts with angiographic documented CAD from the GENEMACOR study, we selected 1276 pts admitted for ACS and analysed them in 2 groups (group A: ≤50 years, n=491 pts, 87.2% male, mean age 44±4.9 and group B: >50 years, n=785 pts, 75.2% male, mean age 57±4.2). Univariate analysis was used to characterize the traits of each group and we used ROC curves and respective AUCs to evaluate the power of genetics in the prediction of CAD, through a Genetic Risk Score (GRS). Results 99.3% of the young patients had at least one modifiable risk factor, 18.4% had 2 modifiable risk factors and 75.2% had 3 or more modifiable risk factors. The pattern of risk factors contributing to CAD were different among groups: family history (A: 27.5%, B: 21.4%, p=0.015) and smoking habits (A: 64.8%, B: 42.9%, p<0.001) were more frequent among patients under 50, and traditional age-linked factors like hypertension (A: 58%, B: 75.7%, p<0.001), diabetes (A: 21.6%, B: 38.6%, p<0.001) were more common in the older group. Acute ST-elevation myocardial infarction was more frequent among the young (A: 55.4%, B: 47.4%, p=0.006), as non-ST clinical presentation was higher among elder patients. Regarding angiographic presentation, single vessel CAD was higher in group A (A: 50.3%, B: 40.9%, p<0.001), while multivessel diasease was higher in group B (A: 33.3%, B: 53.9%, p<0.001). At a mean follow-up of 5 years, older patients had a worst prognosis, registering a higher rate of cardiovascular death (A: 4.1%, B: 8.6%, p=0.002) and higher MACE (A: 26.8%, B: 31%, p=0.128),. Adding the genetic risk score (GRS), we achieved only a slight improvement in the AUC for predicting CAD (0.796->0.805, p=0.0178 and 0.748->0.761, p=0.0007 in patients under and over 50, respectively). Conclusion Coronary artery disease is not all the same, as premature CAD shares a unique and specific pattern of risk factors, clinical presentation, angiographic severity and prognosis. Genetics should not be used as an excuse to justify premature CAD, as there is frequently more than one potentially reversible risk factor present even in young patients and the additive predictive value of GRS is modest.


Author(s):  
Jessica Dennis ◽  
Julia Sealock ◽  
Rebecca T. Levinson ◽  
Eric Farber-Eger ◽  
Jacob Franco ◽  
...  

AbstractMajor depressive disorder (MDD) and loneliness are phenotypically and genetically correlated with coronary artery disease (CAD), but whether these associations are explained by pleiotropic genetic variants or shared comorbidities is unclear. To tease apart these scenarios, we first assessed the medical morbidity pattern associated with genetic risk factors for MDD and loneliness by conducting a phenome-wide association study in 18,385 European-ancestry individuals in the Vanderbilt University Medical Center biobank, BioVU. Polygenic scores for MDD and loneliness were developed for each person using previously published meta-GWAS summary statistics, and were tested for association with 882 clinical diagnoses ascertained via billing codes in electronic health records. We discovered strong associations with heart disease diagnoses, and next embarked on targeted analyses of CAD in 3893 cases and 4197 controls. We found odds ratios of 1.11 (95% CI, 1.04–1.18; P 8.43 × 10−4) and 1.13 (95% CI, 1.07–1.20; P 4.51 × 10−6) per 1-SD increase in the polygenic scores for MDD and loneliness, respectively. Results were similar in patients without psychiatric symptoms, and the increased risk persisted in females even after adjusting for multiple conventional risk factors and a polygenic score for CAD. In a final sensitivity analysis, we statistically adjusted for the genetic correlation between MDD and loneliness and re-computed polygenic scores. The polygenic score unique to loneliness remained associated with CAD (OR 1.09, 95% CI 1.03–1.15; P 0.002), while the polygenic score unique to MDD did not (OR 1.00, 95% CI 0.95–1.06; P 0.97). Our replication sample was the Atherosclerosis Risk in Communities (ARIC) cohort of 7197 European-ancestry participants (1598 incident CAD cases). In ARIC, polygenic scores for MDD and loneliness were associated with hazard ratios of 1.07 (95% CI, 0.99–1.14; P = 0.07) and 1.07 (1.01–1.15; P = 0.03), respectively, and we replicated findings from the BioVU sensitivity analyses. We conclude that genetic risk factors for MDD and loneliness act pleiotropically to increase CAD risk in females.


2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
O Soran ◽  
P.G Karadeniz ◽  
I.G Aktas ◽  
C.C Genc ◽  
M.H Ilkaya ◽  
...  

Abstract Background Primary prevention programs for coronary artery disease (CAD) may be effective in improving health-related behavioral outcomes. However, the implementation and especially the maintanance of these programs can be very challenging mainly due to staffing cost. Thus, the present study was designed to assess the feasibility and effectiveness of a longitudinally structured, enhanced education and follow-up program for CAD prevention in an area where the diverse population and economy are major problems. Methods SANKO Coronary Artery Disesae Prevention Project (SCAD-PPI) was designed as a longitudinal study and utilized medical school students to conduct the entire project under the supervision of professors. It started in 2014 and had 2 different education and training phases. In the first phase; every school year, 2nd year Medical students underwent a one-year, specially designed training program on primary prevention for CAD. In the second phase, which took place in the 2nd year of the study, a series of conferences on primary prevention for CAD were organized by the University and local municipalities for underserved populations. Participants were prospectively assigned to an intervention where pre and post conference knowledge were collected and assessed. Every intervention was conducted by specially trained 3rd year Medical students and an education booklet which was specifically designed for this study was given to the participants. Every other month thereafter, for 6 months, each participant was followed by phone. At the 6 month follow -up, data was collected to assess the impact of enhanced education and follow-up program on behavioral outcomes. Results A total of 135 participant were enrolled; 79% were women, mean age was 41±13 years, only 29% had a graduate school degree; 56% were not working. Mean BMI was 28.3±5.1kg/m2. Overall knowledge on CAD risk factors, primary prevention measures, diet and daily exercise habits were very poor. After the enhanced education and follow-up program there was a significant improvement on the knowledge of CAD risk factors and primary prevention measures (p&lt;0.001). More importantly, the follow-up program led participants to implement those positive changes into their lives and maintain a healthy life style. A separate cost analysis showed significant savings. Conclusion This is the first study which showed that a longitudinally structured training program of medical students could be utilized to implement an enhanced education and follow–up program for primary prevention of CAD in an economically challenged, underserved population with successful outcomes. This model program is not only cost-effective and beneficial for public interest but also enhances active interaction of medical students with patients at a very early stage of their career. Funding Acknowledgement Type of funding source: None


2005 ◽  
Vol 79 (3) ◽  
pp. 210-213 ◽  
Author(s):  
A. Falchi ◽  
L. Giovannoni ◽  
I.S. Piras ◽  
C.M. Calo ◽  
P. Moral ◽  
...  

2021 ◽  
Vol 16 (1) ◽  
pp. 134-149
Author(s):  
Hamat Hamdi Che Hassan ◽  

Acute Coronary Syndrome (ACS) events can be accelerated by positive family history of young coronary artery disease (CAD). Risk factors assessment sometimes fail to predict ACS occurrence. Additional investigations with coronary artery calcium (CAC) score can be used independently in screening for primary prevention in some population. This was a cross-sectional study in asymptomatic population with first degree relatives (FDR) having premature CAD compared with a matched population with no family history of CAD from September 2017 to March 2018 at the Cardiology Clinic of Univeristi Kebangsaan Malaysia Medical Centre. A total of 36 subjects were recruited with equal number in each group. Female were the majority in each group (66.7%). The FDR group were slightly younger compared to the control group [mean (SD) age 36.9 (4.9) against 38 (3.8), respectively). Both groups represent high risk factors including overweight and obesity, abdominal obesity as well as dyslipidemia. Newly diagnosed dyslipidemia was significant in the group with family history (83.3% versus 44.4%, P<0.01). Both groups were screened either into the low or moderate risk Framingham Risk Score group. CAC score was higher in family history group (11.1% vs 0%, P>0.05). In conclusion, CAC may be irrelevant for screening in younger population. However, the yield of other risk factor is still alarming.


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