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Emerging genomic applications in coronary artery disease.

ABSTRACT: Over the last 4 years, an unprecedented number of studies illuminating the genomic underpinnings of common "polygenic" diseases including coronary artery disease have been published. Notably, these studies have established numerous deoxyribonucleic acid (DNA) variants within or near chromosome 9p21.3, the LPA, CXADR, and APOE genes, to name a few, as key coronary artery disease and sudden cardiac death susceptibility markers. Most importantly, many of these DNA variants confer over a 2-fold increase in risk for coronary artery disease, myocardial infarction, and ventricular fibrillation. Additionally, loss-of-function variants in the hepatic cytochrome 2C19 system have now been found to be the predominant genetic mediators of clopidogrel antiplatelet response, with variant carriers having a >3-fold increase in risk for stent thrombosis. In the near future, many additional rare polymorphisms, structural variants, and tissue-specific epigenetic features of the human genome including DNA methylation, histone modifications, and chromatin state will emerge as significant contributors to disease pathogenesis and drug response. In aggregate, these findings will have the potential to radically change the practice of cardiovascular medicine. However, only the individual clinician can ultimately enable the translation of these important discoveries to systematic implementation in clinical practice.

SUBMITTER: Damani SB

PROVIDER: S-EPMC6072268 | biostudies-literature | 2011 May

REPOSITORIES: biostudies-literature

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Emerging genomic applications in coronary artery disease.

Damani Samir B SB Topol Eric J EJ

JACC. Cardiovascular interventions 20110501 5

Over the last 4 years, an unprecedented number of studies illuminating the genomic underpinnings of common "polygenic" diseases including coronary artery disease have been published. Notably, these studies have established numerous deoxyribonucleic acid (DNA) variants within or near chromosome 9p21.3, the LPA, CXADR, and APOE genes, to name a few, as key coronary artery disease and sudden cardiac death susceptibility markers. Most importantly, many of these DNA variants confer over a 2-fold incr ...[more]

PMID: 21596318

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Project description:IntroductionCoronary angiography (CAG) is the standard modality for assessment of coronary stenoses and intraprocedural guidance of percutaneous coronary interventions (PCI). However, the limitations of CAG are well recognized. Intracoronary imaging (ICI) can potentially overcome these limitations. Intravascular ultrasound (IVUS) and optical coherence tomography (OCT) are the main ICI techniques utilized in clinical practice.AimThis narrative literature review addresses the current clinical applications of OCT in relation to IVUS and CAG in patients with coronary artery disease (CAD). Items reviewed are: technical implications of OCT and IVUS, lesion characterization and decision-making, stent optimization criteria, post-stenting results, safety in terms of procedural complications, clinical outcomes, and indications.Main findingsOCT is able to reveal more detail than IVUS due to its higher resolution. However, this higher resolution comes at the cost of a lower penetration depth. Pre-stenting OCT results in procedural change in more than 50% of the cases in terms of stent length and diameter. Post-stenting OCT resulting in stent optimization is reported in at least 27% of the cases. Malapposition and under-expansion are treated with post-dilatations, while edge dissections are treated with additional stent placement. Stent expansion, stent apposition, distal stent edge dissections, and reference lumen areas seem to be the most important stent optimization criteria for both decision-making and for reducing the risk of adverse events during follow-up. Both OCT and IVUS are superior in terms of post-stenting results compared with CAG alone. However, there is no consensus about whether OCT guidance results in better stent expansion than IVUS guidance. OCT, IVUS, and CAG are safe procedures with few reported procedural complications. In general, OCT guidance seems to contribute to favorable clinical outcomes compared with CAG guidance only. However, OCT guidance results in similar clinical outcomes as with IVUS guidance. OCT could be considered for lumen assessment and stent-related morphology in more complex cases in which CAG interpretation remains uncertain. Since OCT and IVUS have distinct characteristics, these techniques are complementary and should be considered carefully for each patient case based on the benefits and limitations of both techniques.

Dataset Information

Emerging genomic applications in coronary artery disease.

Publications

Emerging genomic applications in coronary artery disease.

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