Polygenic Risk Score for Cardiovascular Diseases in Artificial Intelligence Paradigm: A Review.

Cardiovascular disease (CVD) related mortality and morbidity heavily strain society. The relationship between external risk factors and our genetics have not been well established. It is widely acknowledged that environmental influence and individual behaviours play a significant role in CVD vulnerability, leading to the development of polygenic risk scores (PRS). We employed the PRISMA search method to locate pertinent research and literature to extensively review artificial intelligence (AI)-based PRS models for CVD risk prediction. Furthermore, we analyzed and compared conventional vs. AI-based solutions for PRS. We summarized the recent advances in our understanding of the use of AI-based PRS for risk prediction of CVD. Our study proposes three hypotheses: i) Multiple genetic variations and risk factors can be incorporated into AI-based PRS to improve the accuracy of CVD risk predicting. ii) AI-based PRS for CVD circumvents the drawbacks of conventional PRS calculators by incorporating a larger variety of genetic and non-genetic components, allowing for more precise and individualised risk estimations. iii) Using AI approaches, it is possible to significantly reduce the dimensionality of huge genomic datasets, resulting in more accurate and effective disease risk prediction models. Our study highlighted that the AI-PRS model outperformed traditional PRS calculators in predicting CVD risk. Furthermore, using AI-based methods to calculate PRS may increase the precision of risk predictions for CVD and have significant ramifications for individualized prevention and treatment plans.

Shared Decision-Making in Athletes Diagnosed With a Cardiovascular Condition: A Scoping Review.

This scoping review summarizes existing approaches, benefits, and barriers to shared decision-making (SDM) in the context of sports cardiology. Among 6,058 records screened, 37 articles were included in this review. Most included articles defined SDM as an open dialogue between the athlete, healthcare team, and other stakeholders. The benefits and risks of management strategies, treatment options, and return-to-play were the focus of this dialogue. Key components of SDM were described through various themes, such as emphasizing patient values, considering nonphysical factors, and informed consent. Benefits of SDM included enhancing patient understanding, implementing a personalized management plan, and considering a holistic approach to care. Barriers to SDM included pressure from institutions, consideration of multiple perspectives in decision-making, and the potential liability of healthcare providers. The use of SDM when discussing management, treatment, and lifestyle modification for athletes diagnosed with a cardiovascular condition is necessary to ensure patient autonomy and engagement.

Progression of atherosclerosis with carnitine supplementation: a randomized controlled trial in the metabolic syndrome.

BACKGROUND: L-carnitine (L-C), a ubiquitous nutritional supplement, has been investigated as a potential therapy for cardiovascular disease, but its effects on human atherosclerosis are unknown. Clinical studies suggest improvement of some cardiovascular risk factors, whereas others show increased plasma levels of pro-atherogenic trimethylamine N-oxide. The primary aim was to determine whether L-C therapy led to progression or regression of carotid total plaque volume (TPV) in participants with metabolic syndrome (MetS). METHODS: This was a phase 2, prospective, double blinded, randomized, placebo-controlled, two-center trial. MetS was defined as ≥ 3/5 cardiac risk factors: elevated waist circumference; elevated triglycerides; reduced HDL-cholesterol; elevated blood pressure; elevated glucose or HbA1c; or on treatment. Participants with a baseline TPV ≥ 50 mm3 were randomized to placebo or 2 g L-C daily for 6 months. RESULTS: The primary outcome was the percent change in TPV over 6 months. In 157 participants (L-C N = 76, placebo N = 81), no difference in TPV change between arms was found. The L-C group had a greater increase in carotid atherosclerotic stenosis of 9.3% (p = 0.02) than the placebo group. There was a greater increase in total cholesterol and LDL-C levels in the L-C arm. CONCLUSIONS: Though total carotid plaque volume did not change in MetS participants taking L-C over 6-months, there was a concerning progression of carotid plaque stenosis. The potential harm of L-C in MetS and its association with pro-atherogenic metabolites raises concerns for its further use as a potential therapy and its widespread availability as a nutritional supplement. TRIAL REGISTRATION: ClinicalTrials.gov, NCT02117661, Registered April 21, 2014, https://clinicaltrials.gov/ct2/show/NCT02117661 .

Wilson disease tissue classification and characterization using seven artificial intelligence models embedded with 3D optimization paradigm on a weak training brain magnetic resonance imaging datasets: a supercomputer application.

Wilson's disease (WD) is caused by copper accumulation in the brain and liver, and if not treated early, can lead to severe disability and death. WD has shown white matter hyperintensity (WMH) in the brain magnetic resonance scans (MRI) scans, but the diagnosis is challenging due to (i) subtle intensity changes and (ii) weak training MRI when using artificial intelligence (AI). Design and validate seven types of high-performing AI-based computer-aided design (CADx) systems consisting of 3D optimized classification, and characterization of WD against controls. We propose a "conventional deep convolution neural network" (cDCNN) and an "improved DCNN" (iDCNN) where rectified linear unit (ReLU) activation function was modified ensuring "differentiable at zero." Three-dimensional optimization was achieved by recording accuracy while changing the CNN layers and augmentation by several folds. WD was characterized using (i) CNN-based feature map strength and (ii) Bispectrum strengths of pixels having higher probabilities of WD. We further computed the (a) area under the curve (AUC), (b) diagnostic odds ratio (DOR), (c) reliability, and (d) stability and (e) benchmarking. Optimal results were achieved using 9 layers of CNN, with 4-fold augmentation. iDCNN yields superior performance compared to cDCNN with accuracy and AUC of 98.28 ± 1.55, 0.99 (p < 0.0001), and 97.19 ± 2.53%, 0.984 (p < 0.0001), respectively. DOR of iDCNN outperformed cDCNN fourfold. iDCNN also outperformed (a) transfer learning-based "Inception V3" paradigm by 11.92% and (b) four types of "conventional machine learning-based systems": k-NN, decision tree, support vector machine, and random forest by 55.13%, 28.36%, 15.35%, and 14.11%, respectively. The AI-based systems can potentially be useful in the early WD diagnosis. Graphical Abstract.

Ultrasound-based internal carotid artery plaque characterization using deep learning paradigm on a supercomputer: a cardiovascular disease/stroke risk assessment system.

Visual or manual characterization and classification of atherosclerotic plaque lesions are tedious, error-prone, and time-consuming. The purpose of this study is to develop and design an automated carotid plaque characterization and classification system into binary classes, namely symptomatic and asymptomatic types via the deep learning (DL) framework implemented on a supercomputer. We hypothesize that on ultrasound images, symptomatic carotid plaques have (a) a low grayscale median because of a histologically large lipid core and relatively little collagen and calcium, and (b) a higher chaotic (heterogeneous) grayscale distribution due to the composition. The methodology consisted of building a DL model of Artificial Intelligence (called Atheromatic 2.0, AtheroPoint, CA, USA) that used a classic convolution neural network consisting of 13 layers and implemented on a supercomputer. The DL model used a cross-validation protocol for estimating the classification accuracy (ACC) and area-under-the-curve (AUC). A sample of 346 carotid ultrasound-based delineated plaques were used (196 symptomatic and 150 asymptomatic, mean age 69.9 ± 7.8 years, with 39% females). This was augmented using geometric transformation yielding 2312 plaques (1191 symptomatic and 1120 asymptomatic plaques). K10 (90% training and 10% testing) cross-validation DL protocol was implemented and showed an (i) accuracy and (ii) AUC without and with augmentation of 86.17%, 0.86 (p-value < 0.0001), and 89.7%, 0.91 (p-value < 0.0001), respectively. The DL characterization system consisted of validation of the two hypotheses: (a) mean feature strength (MFS) and (b) Mandelbrot's fractal dimension (FD) for measuring chaotic behavior. We demonstrated that both MFS and FD were higher in symptomatic plaques compared to asymptomatic plaques by 64.15 ± 0.73% (p-value < 0.0001) and 6 ± 0.13% (p-value < 0.0001), respectively. The benchmarking results show that DL with augmentation (ACC: 89.7%, AUC: 0.91 (p-value < 0.0001)) is superior to previously published machine learning (ACC: 83.7%) by 6.0%. The Atheromatic runs the test patient in < 2 s. Deep learning can be a useful tool for carotid ultrasound-based characterization and classification of symptomatic and asymptomatic plaques.