Personalized Medicine for Coronary Artery Disease: Diagnosis, Prevention, and Treatment

A special issue of Journal of Personalized Medicine (ISSN 2075-4426). This special issue belongs to the section "Mechanisms of Diseases".

Deadline for manuscript submissions: closed (30 September 2023) | Viewed by 17622

Special Issue Editor

Department of Invasive Cardiology, Centre of Postgraduate Medical Education, Central Clinical, Hospital of the Ministry of Interior and Administration, Woloska 137 Street, 02-507 Warsaw, Poland
Interests: ubiquitin proteasome; oncology; stents; apoptosis; cardiology; ubiquitination; coronary artery disease; vascular medicine; PCI
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Special Issue Information

Dear Colleagues,

We can define personalized medicine as diagnostic and screening methods to better manage an individual patient’s disease or their predisposition toward disease. A remarkable progression of genomic studies has been achieved in recent decades, from the characterization of the deoxyribonucleic acid (DNA) double helix by Watson and Crick in 1953, to completing the Human Genome Project in 2003. The Human Genome Project and International HapMap Project provided a tremendous amount of information based on DNA.

Moreover, individualized medicine represents another stage in the development of personalized medicine. While personalized medicine is aimed at a specific group of patients, individualized medicine deals with the individual circumstances of a single person. Thus, individualized medicine goes one step further and can be considered an increase in the specificity of personalized medicine. Individualized medicine not only looks at genes but also focuses on the full range of a person's unique nature, including biological, physiological, and anatomical information.

As far as coronary artery disease is concerned, traditional risk factors fail to explain up to 50% of morbidity and mortality. Moreover, both the conventional and novel risk factors have a partial genetic origin. Many studies have shown that treatment algorithms supported by consensus guidelines may lead to a situation where a significant percentage of patients (such as patients with no Apo E genotype) are treated sub-optimally. Therefore, limiting disease management to the “one diet and standard drug therapy regimen fits all” approach is not the best option.

Recent studies suggest that the transformation of medicine in the 21st century can be called “P4 Medicine”, i.e., Predictive, Personalized, Preemptive, and Participatory. Moreover, the genome record might allow physicians to make treatment decisions based on patient genotypes. This might enable individuals to make appropriate lifestyle choices as well as to use proper drugs.

Personalized medicine is developing fast, and new data are emerging in huge amounts. This might enable the proper risk assessment, diagnosis, prevention, and therapy specifically tailored to the individual's unique characteristics, thus enhancing the quality of life and public health. Therefore, this Special Issue aims to present recent developments in personalized/individualized medicine and coronary artery disease.

We invite authors to submit original studies, reviews, meta-analyses, and case reports focused on the individualization of the prevention, diagnosis, and treatment of coronary artery disease and its complications such as myocardial infarction or heart failure. We are soliciting not only genetic studies but all papers on the broadly understood personalized or individualized medicine, including manuscripts devoted to novel drugs, medical devices, or approaches dedicated to particular subsets of patients.

Dr. Jacek Bil
Guest Editor

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Keywords

  • coronary artery disease
  • CVD prevention
  • pharmacogenetics
  • targeted treatment
  • gene-environment interaction
  • residual cardiovascular risk

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Published Papers (7 papers)

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Editorial

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3 pages, 197 KiB  
Editorial
Individualized Management of Patients with Coronary Artery Disease
by Jacek Bil
J. Pers. Med. 2022, 12(8), 1243; https://doi.org/10.3390/jpm12081243 - 29 Jul 2022
Viewed by 1365
Abstract
We can characterize personalized medicine as a compilation of diagnostic and screening modalities to better manage individual patients, their diseases, or their predisposition toward various disorders [...] Full article

Research

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13 pages, 2443 KiB  
Article
Identification of Genetic Variants Associated with Severe Myocardial Bridging through Whole-Exome Sequencing
by Tsung-Lin Yang, Jafit Ting, Min-Rou Lin, Wei-Chiao Chang and Chun-Ming Shih
J. Pers. Med. 2023, 13(10), 1509; https://doi.org/10.3390/jpm13101509 - 18 Oct 2023
Viewed by 1258
Abstract
Myocardial bridging (MB) is a congenital coronary artery anomaly and an important cause of angina. The genetic basis of MB is currently unknown. This study used a whole-exome sequencing technique and analyzed genotypic differences. Eight coronary angiography-confirmed cases of severe MB and eight [...] Read more.
Myocardial bridging (MB) is a congenital coronary artery anomaly and an important cause of angina. The genetic basis of MB is currently unknown. This study used a whole-exome sequencing technique and analyzed genotypic differences. Eight coronary angiography-confirmed cases of severe MB and eight age- and sex-matched control patients were investigated. In total, 139 rare variants that are potentially pathogenic for severe MB were identified in 132 genes. Genes with multiple rare variants or co-predicted by ClinVar and CADD/REVEL for severe MB were collected, from which heart-specific genes were selected under the guidance of tissue expression levels. Functional annotation indicated significant genetic associations with abnormal skeletal muscle mass, cardiomyopathies, and transmembrane ion channels. Candidate genes were reviewed regarding the functions and locations of each individual gene product. Among the gene candidates for severe MB, rare variants in DMD, SGCA, and TTN were determined to be the most crucial. The results suggest that altered anchoring proteins on the cell membrane and intracellular sarcomere unit of cardiomyocytes play a role in the development of the missed trajectory of coronary vessels. Additional studies are required to support the diagnostic application of cardiac sarcoglycan and dystroglycan complexes in patients with severe MB. Full article
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11 pages, 496 KiB  
Article
Long-Term Exposure of Nitrogen Oxides Air Pollution (NO2) Impact for Coronary Artery Lesion Progression—Pilot Study
by Tomasz Urbanowicz, Krzysztof Skotak, Krzysztof J. Filipiak, Anna Olasińska-Wiśniewska, Krystian Szczepański, Michał Wyrwa, Jędrzej Sikora, Andrzej Tykarski and Marek Jemielity
J. Pers. Med. 2023, 13(9), 1376; https://doi.org/10.3390/jpm13091376 - 14 Sep 2023
Cited by 5 | Viewed by 1192
Abstract
Background: The potentially harmful effects of air pollution on the human health have been already presented in epidemiological studies, suggesting a strong association with increased morbidity and mortality. The aim of the study was to evaluate a possible relationship between coronary artery lesion [...] Read more.
Background: The potentially harmful effects of air pollution on the human health have been already presented in epidemiological studies, suggesting a strong association with increased morbidity and mortality. The aim of the study was to evaluate a possible relationship between coronary artery lesion progression related to habitation place (cities vs. villages) and air pollution. Methods: There were 148 (101 men and 47 women) patients with a median age of 70 (63–74) years enrolled into retrospective analysis based on the coronary angiography results and their habitation place. Patients with stable coronary syndrome, who underwent repeated percutaneous coronary interventions were enrolled into the analysis based on demographical and clinical characteristics combined with annual exposure to air pollution (PM2.5, PM10, and NO2). Results: The results of multivariable regression analysis showed a significant relationship between coronary artery lesion progression requiring percutaneous intervention and NO2 chronic exposure in patients living in cities of Poland (OR 2.00, 95% CI: 0.41–9.62, p < 0.001). The predictive value of air pollution exposure at habitation place for coronary artery lesion progression requiring percutaneous intervention was evaluated by receiver-operator curve analysis, which revealed an area under the curve of 0.939, yielding a sensitivity of 87.1% and specificity of 90.7%. Conclusions: Coronary artery lesion progression can be related to chronic exposure to NO2 air pollution in patients living in cities in Poland. Full article
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13 pages, 1208 KiB  
Article
The Comparison of Predicting Factors and Outcomes of MINOCA and STEMI Patients in the 5-Year Follow-Up
by Patryk Buller, Adam Kern, Maciej Tyczyński, Wojciech Rosiak, Włodzimierz Figatowski, Robert J. Gil and Jacek Bil
J. Pers. Med. 2023, 13(5), 856; https://doi.org/10.3390/jpm13050856 - 19 May 2023
Cited by 1 | Viewed by 1600
Abstract
The long-term outcomes of patients with myocardial infarction with non-obstructive coronary arteries (MINOCA) are still not well known. This study aimed to compare the characteristics and outcomes between MINOCA and STEMI patients in a 5-year follow-up. Between 2010 and 2015 we identified 3171 [...] Read more.
The long-term outcomes of patients with myocardial infarction with non-obstructive coronary arteries (MINOCA) are still not well known. This study aimed to compare the characteristics and outcomes between MINOCA and STEMI patients in a 5-year follow-up. Between 2010 and 2015 we identified 3171 coronary angiography procedures performed due to acute coronary syndrome, from which 153 had a working MINOCA diagnosis, and the final diagnosis of MINOCA was ascribed to 112 (5.8%) patients. Additionally, we matched 166 patients with STEMI and obstructive coronary arteries as the reference group. In MINOCA patients (mean age of 63 years), there were more females (60% vs. 26%, p < 0.001), and patients presented most frequently with NSTEMI (83.9%). Patients with MINOCA had more frequent atrial fibrillation (22% vs. 5.4%, p < 0.001) and higher left ventricular ejection fraction (59 ± 10% vs. 54 ± 10%, p < 0.001) compared to STEMI patients. We observed only a trend for a higher rate of MACE in STEMI patients at 5 years (11.6% vs. 18.7%, HR 1.82, 95% CI 0.91–3.63, p = 0.09). In multivariable Cox regression, only beta-blocker use was a protective factor (a trend observed), with HR 0.33, 95% CI 0.10–1.15, p = 0.082 of future MACE. The outcomes of MINOCA and STEMI patients were comparable in the 5-year follow-up. Full article
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14 pages, 4946 KiB  
Article
Finetuned Super-Resolution Generative Adversarial Network (Artificial Intelligence) Model for Calcium Deblooming in Coronary Computed Tomography Angiography
by Zhonghua Sun and Curtise K. C. Ng
J. Pers. Med. 2022, 12(9), 1354; https://doi.org/10.3390/jpm12091354 - 23 Aug 2022
Cited by 12 | Viewed by 2633
Abstract
The purpose of this study was to finetune a deep learning model, real-enhanced super-resolution generative adversarial network (Real-ESRGAN), and investigate its diagnostic value in calcified coronary plaques with the aim of suppressing blooming artifacts for the further improvement of coronary lumen assessment. We [...] Read more.
The purpose of this study was to finetune a deep learning model, real-enhanced super-resolution generative adversarial network (Real-ESRGAN), and investigate its diagnostic value in calcified coronary plaques with the aim of suppressing blooming artifacts for the further improvement of coronary lumen assessment. We finetuned the Real-ESRGAN model and applied it to 50 patients with 184 calcified plaques detected at three main coronary arteries (left anterior descending [LAD], left circumflex [LCx] and right coronary artery [RCA]). Measurements of coronary stenosis were collected from original coronary computed tomography angiography (CCTA) and Real-ESRGAN-processed images, including Real-ESRGAN-high-resolution, Real-ESRGAN-average and Real-ESRGAN-median (Real-ESRGAN-HR, Real-ESRGAN-A and Real-ESRGAN-M) with invasive coronary angiography as the reference. Our results showed specificity and positive predictive value (PPV) of the Real-ESRGAN-processed images were improved at all of the three coronary arteries, leading to significant reduction in the false positive rates when compared to those of the original CCTA images. The specificity and PPV of the Real-ESRGAN-M images were the highest at the RCA level, with values being 80% (95% CI: 64.4%, 90.9%) and 61.9% (95% CI: 45.6%, 75.9%), although the sensitivity was reduced to 81.3% (95% CI: 54.5%, 95.9%) due to false negative results. The corresponding specificity and PPV of the Real-ESRGAN-M images were 51.9 (95% CI: 40.3%, 63.5%) and 31.5% (95% CI: 25.8%, 37.8%) at LAD, 62.5% (95% CI: 40.6%, 81.2%) and 43.8% (95% CI: 30.3%, 58.1%) at LCx, respectively. The area under the receiver operating characteristic curve was also the highest at the RCA with value of 0.76 (95% CI: 0.64, 0.89), 0.84 (95% CI: 0.73, 0.94), 0.85 (95% CI: 0.75, 0.95) and 0.73 (95% CI: 0.58, 0.89), corresponding to original CCTA, Real-ESRGAN-HR, Real-ESRGAN-A and Real-ESRGAN-M images, respectively. This study proves that the finetuned Real-ESRGAN model significantly improves the diagnostic performance of CCTA in assessing calcified plaques. Full article
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Review

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19 pages, 973 KiB  
Review
Acute Coronary Syndrome: Disparities of Pathophysiology and Mortality with and without Peripheral Artery Disease
by Flavius-Alexandru Gherasie, Mihaela-Roxana Popescu and Daniela Bartos
J. Pers. Med. 2023, 13(6), 944; https://doi.org/10.3390/jpm13060944 - 2 Jun 2023
Cited by 2 | Viewed by 2038
Abstract
There are a number of devastating complications associated with peripheral artery disease, including limb amputations and acute limb ischemia. Despite the overlap, atherosclerotic diseases have distinct causes that need to be differentiated and managed appropriately. In coronary atherosclerosis, thrombosis is often precipitated by [...] Read more.
There are a number of devastating complications associated with peripheral artery disease, including limb amputations and acute limb ischemia. Despite the overlap, atherosclerotic diseases have distinct causes that need to be differentiated and managed appropriately. In coronary atherosclerosis, thrombosis is often precipitated by rupture or erosion of fibrous caps around atheromatous plaques, which leads to acute coronary syndrome. Regardless of the extent of atherosclerosis, peripheral artery disease manifests itself as thrombosis. Two-thirds of patients with acute limb ischemia have thrombi associated with insignificant atherosclerosis. A local thrombogenic or remotely embolic basis of critical limb ischemia may be explained by obliterative thrombi in peripheral arteries of patients without coronary artery-like lesions. Studies showed that thrombosis of the above-knee arteries was more commonly due to calcified nodules, which are the least common cause of luminal thrombosis associated with acute coronary events in patients with acute coronary syndrome. Cardiovascular mortality was higher in peripheral artery disease without myocardial infarction/stroke than in myocardial infarction/stroke without peripheral artery disease. The aim of this paper is to gather published data regarding the disparities of acute coronary syndrome with and without peripheral artery disease in terms of pathophysiology and mortality. Full article
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13 pages, 1503 KiB  
Review
Interventional Management of a Rare Combination of Nutcracker and Wilkie Syndromes
by Mihai-Claudiu Ober, Florin-Leontin Lazăr, Alexandru Achim, Dacian Călin Tirinescu, Gregor Leibundgut, Călin Homorodean, Maria Olinic, Horea Laurențiu Onea, Mihail Spînu, Dan Tătaru, Bogdan Săbiescu and Dan-Mircea Olinic
J. Pers. Med. 2022, 12(9), 1461; https://doi.org/10.3390/jpm12091461 - 6 Sep 2022
Cited by 4 | Viewed by 6640
Abstract
Nutcracker and Wilkie syndromes are rare mesoaortic compression entities, and their association is even less common. Data on interventional treatment of these pathologies are still scarce, but results from limited case series are encouraging. We report the case of a previously healthy 45-year-old [...] Read more.
Nutcracker and Wilkie syndromes are rare mesoaortic compression entities, and their association is even less common. Data on interventional treatment of these pathologies are still scarce, but results from limited case series are encouraging. We report the case of a previously healthy 45-year-old woman diagnosed with nutcracker and Wilkie syndromes who presented with macroscopic hematuria, intermittent pain in the left flank and hypogastric region, postprandial nausea, and unexplained significant weight loss. A successful endovascular approach with stent implantation in the left renal vein was performed, but the stent migrated toward the left kidney, and this acute complication was managed through an interventional strategy as well. At the three-month follow-up, the patient described a marked improvement in all symptoms, except for the macroscopic hematuria. As it was our strong belief that the approach was efficient, we further investigated the “hematuria”, which eventually led to the diagnosis of endometrial carcinoma. A hysterectomy and bilateral adnexectomy were planned, and chemoradiotherapy was initiated with the goal of preoperative tumor reduction. To our knowledge, this is the first reported case in which both Wilkie and nutcracker syndromes were effectively treated by stent implantation in the left renal vein, complicated with very early stent migration due to inadequate apposition to the less compliant venous lumen. The treatment of the duodenal compression was indirectly included in the stenting of the left renal vein, as reclaiming the venous lumen widened the aortomesenteric angle. The aim of this review is to discuss our center’s transcatheter experience with these rare disorders and explore the literature in order to establish the benefits and limitations of such an approach. Full article
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