A substantial number of patients with the appropriate clinical phenotypes must be studied to disprove previous findings that circulating endothelial cell counts and morphology can predict atherosclerotic plaque rupture.

Features of endothelial cells in blood samples may eventually permit prediction of atherosclerotic plaque rupture events.

Purpose: To evaluate consumer perceptions of direct-to-consumer personalized genomic risk assessments and assess the extent to which consumer characteristics may be associated with attitudes toward testing.

Atrial fibrillation (AF) is the most common persistent cardiac dysrhythmia and the number one cause of arrhythmia-related hospitalizations. In addition, AF is a major contributor to stroke. With life expectancies increasing, the growing global disability from AF has crippling implications for society. Several family studies have shown a strong polygenetic predisposition for AF but, so far, most of the linkage analysis and candidate gene studies have discovered only monogenic, rare, deleterious mutations. Recent breakthroughs in high-throughput genotyping technology have allowed improved scanning of the genome with greater statistical power to detect susceptibility alleles for AF. Using this technology, a region on 4q25 has now been identified and validated in thousands of cases as a common susceptibility factor for AF with an odds ratio of over 3.0 for homozygotes. The Paired-like homeodomain transcription factor 2 (PITX2) gene, which is involved in embryonic cardiac development, has now been identified as the causal variant for the 4q25 susceptibility locus. Additional susceptibility variants are anticipated that will have direct ramifications for prognosis and treatment of this highly pervasive and clinically significant disorder.

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.

BackgroundFrequently, hospitalized patients are referred for transthoracic echocardiograms. The availability of a pocket mobile echocardiography device that can be incorporated on bedside rounds by cardiologists may be a useful and frugal alternative.MethodsThis was a cross-sectional study designed to compare the accuracy of pocket mobile echocardiography images with those acquired by transthoracic echocardiography in a sample of hospitalized patients. Each patient referred for echocardiography underwent pocket mobile echocardiography acquisition and interpretation by a senior cardiology fellow with level II training in echocardiography. Subsequently, transthoracic echocardiography was performed by skilled ultrasonographers and interpreted by experienced echocardiographers. Both groups were blinded to the results of the alternative imaging modality. Visualizability and accuracy for all key echocardiographic parameters (ejection fraction, wall motion abnormalities, left ventricular end-diastolic dimension, inferior vena cava size, aortic and mitral valve pathology, and pericardial effusion) were determined and compared between imaging modalities.ResultsA total of 240 hospitalized patients underwent echocardiography with pocket mobile echocardiography and transthoracic echocardiography. The mean age was 71 ± 17 years. Pocket mobile echocardiography imaging time was 6.3 ± 1.5 minutes. Sensitivity of pocket mobile echocardiography varied by parameter and was highest for aortic stenosis (97%) and lowest for aortic insufficiency (76%). Specificity also varied by parameter and was highest for mitral regurgitation (100%) and lowest for left ventricular ejection fraction (92%). Equivalence testing revealed the pocket mobile echocardiography outcomes to be significantly equivalent to the transthoracic echocardiography outcomes with no discernible differences in image quality between pocket mobile echocardiography and transthoracic echocardiography (P = 7.22 × 10−7). All outcomes remain significant after correcting for multiple testing using the false discovery rate.ConclusionsThe results from rapid bedside pocket mobile echocardiography examinations performed by experienced cardiology fellows compared favorably with those from formal transthoracic echocardiography studies. For hospitalized patients, this finding could shift the burden of performing and interpreting the echocardiogram to the examining physician and reduce the number and cost associated with formal echocardiography studies.

BackgroundCardiac arrhythmias are remarkably common and routinely go undiagnosed because they are often transient and asymptomatic. Effective diagnosis and treatment can substantially reduce the morbidity and mortality associated with cardiac arrhythmias. The Zio Patch (iRhythm Technologies, Inc, San Francisco, Calif) is a novel, single-lead electrocardiographic (ECG), lightweight, Food and Drug Administration–cleared, continuously recording ambulatory adhesive patch monitor suitable for detecting cardiac arrhythmias in patients referred for ambulatory ECG monitoring.MethodsA total of 146 patients referred for evaluation of cardiac arrhythmia underwent simultaneous ambulatory ECG recording with a conventional 24-hour Holter monitor and a 14-day adhesive patch monitor. The primary outcome of the study was to compare the detection arrhythmia events over total wear time for both devices. Arrhythmia events were defined as detection of any 1 of 6 arrhythmias, including supraventricular tachycardia, atrial fibrillation/flutter, pause greater than 3 seconds, atrioventricular block, ventricular tachycardia, or polymorphic ventricular tachycardia/ventricular fibrillation. McNemar's tests were used to compare the matched pairs of data from the Holter and the adhesive patch monitor.ResultsOver the total wear time of both devices, the adhesive patch monitor detected 96 arrhythmia events compared with 61 arrhythmia events by the Holter monitor (P < .001).ConclusionsOver the total wear time of both devices, the adhesive patch monitor detected more events than the Holter monitor. Prolonged duration monitoring for detection of arrhythmia events using single-lead, less-obtrusive, adhesive-patch monitoring platforms could replace conventional Holter monitoring in patients referred for ambulatory ECG monitoring.