Letter by Ruiz-Guerrero et al Regarding Article, "Yield of the RYR2 Genetic Test in Suspected Catecholaminergic Polymorphic Ventricular Tachycardia and Implications for Test Interpretation" [Correspondence]
(Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - May 11, 2018 Category: Cardiology Authors: Ruiz-Guerrero, L., Larranaga-Moreira, J. M., Barriales-Villa, R. Tags: Genetics Correspondence Source Type: research

Common Coding Variants in SCN10A Are Associated With the Nav1.8 Late Current and Cardiac Conduction [Original Articles]
Conclusions: Our findings suggest an association between genetic variation in SCN10A, the late sodium current, and alterations in cardiac conduction. (Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - May 11, 2018 Category: Cardiology Authors: Macri, V., Brody, J. A., Arking, D. E., Hucker, W. J., Yin, X., Lin, H., Mills, R. W., Sinner, M. F., Lubitz, S. A., Liu, C.-T., Morrison, A. C., Alonso, A., Li, N., Fedorov, V. V., Janssen, P. M., Bis, J. C., Heckbert, S. R., Dolmatova, E. V., Lumley, T. Tags: Electrophysiology, Atrial Fibrillation, Ion Channels/Membrane Transport, Functional Genomics Original Articles Source Type: research

Frameshifts in Code and in Care: The Importance of Timely Genetic Evaluation [Perspective]
(Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - May 10, 2018 Category: Cardiology Authors: Reza, N., Chowns, J. L., Merrill, S. L., Marzolf, A., Zado, E. S., Palmer, M. B., Deshpande, C., Pryma, D. A., Rame, J. E., Marchlinski, F. E., Owens, A. T. Tags: Arrhythmias, Genetics, Cardiomyopathy, Nuclear Cardiology and PET, Transplantation Perspective Source Type: research

Genetic Regulation of PCSK9 (Proprotein Convertase Subtilisin/Kexin Type 9) Plasma Levels: Another Piece of the Puzzle [Editorial]
(Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - May 10, 2018 Category: Cardiology Authors: Paquette, M., Baass, A. Tags: Genetic, Association Studies, Atherosclerosis, Coronary Artery Disease Editorial Source Type: research

Genetic Variation and the Electrocardiograph: From Genome-Wide Association Studies to the Patient [Editorial]
(Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - May 10, 2018 Category: Cardiology Authors: Hedley, P. L., Hagen, C. M., Christiansen, M. Tags: Cardiovascular Disease, Genetic, Association Studies, Functional Genomics, Electrocardiology (ECG), Meta Analysis Editorial Source Type: research

TRPM4 Mutation in Patients With Ventricular Noncompaction and Cardiac Conduction Disease [Clinical Vignettes]
(Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - May 10, 2018 Category: Cardiology Authors: Saito, Y., Nakamura, K., Nishi, N., Igawa, O., Yoshida, M., Miyoshi, T., Watanabe, A., Morita, H., Ito, H. Tags: Genetics Clinical Vignettes Source Type: research

Increased Prevalence of Congenital Heart Disease in Children With Diamond Blackfan Anemia Suggests Unrecognized Diamond Blackfan Anemia as a Cause of Congenital Heart Disease in the General Population: A Report of the Diamond Blackfan Anemia Registry [Research Letter]
(Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - May 10, 2018 Category: Cardiology Authors: Vlachos, A., Osorio, D. S., Atsidaftos, E., Kang, J., Lababidi, M. L., Seiden, H. S., Gruber, D., Glader, B. E., Onel, K., Farrar, J. E., Bodine, D. M., Aspesi, A., Dianzani, I., Ramenghi, U., Ellis, S. R., Lipton, J. M. Tags: Clinical Studies, Genetics, Congenital Heart Disease Research Letter Source Type: research

Common and Rare Coding Genetic Variation Underlying the Electrocardiographic PR Interval [Original Articles]
Conclusions: We identified common variants at 11 novel loci and rare variants within 2 gene regions that were significantly associated with PR interval. Our findings provide novel insights to the current understanding of atrioventricular conduction, which is critical for cardiac activity and an important determinant of health. (Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - May 10, 2018 Category: Cardiology Authors: Lin, H., van Setten, J., Smith, A. V., Bihlmeyer, N. A., Warren, H. R., Brody, J. A., Radmanesh, F., Hall, L., Grarup, N., Muller-Nurasyid, M., Boutin, T., Verweij, N., Lin, H. J., Li-Gao, R., van den Berg, M. E., Marten, J., Weiss, S., Prins, B. P., Haes Tags: Electrophysiology, Epidemiology, Genetic, Association Studies Original Articles Source Type: research

Genetic Regulation of PCSK9 (Proprotein Convertase Subtilisin/Kexin Type 9) Plasma Levels and Its Impact on Atherosclerotic Vascular Disease Phenotypes [Original Articles]
Conclusions: Variants at the PCSK9 gene locus seem to be the major genetic determinants of plasma PCSK9 levels with 4 independent variants at the PCSK9 gene locus expressing allelic heterogeneity. The detected MR estimates support the hypothesis of a causal effect of PCSK9 on coronary artery disease and other vascular phenotypes. Other observed genetic associations for PCSK9 require validation in independent cohorts. Clinical Trial Registration: URL: http://www.clinicaltrials.gov. Unique Identifier: NCT00497887. (Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - May 10, 2018 Category: Cardiology Authors: Pott, J., Schlegel, V., Teren, A., Horn, K., Kirsten, H., Bluecher, C., Kratzsch, J., Loeffler, M., Thiery, J., Burkhardt, R., Scholz, M. Tags: Lipids and Cholesterol, Genetic, Association Studies, Atherosclerosis Original Articles Source Type: research

Predicting Penetrance of SCN5A Rare Variants: Peering Beyond the Black and White and Into the Shades of Grey [Editorial]
(Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - May 4, 2018 Category: Cardiology Authors: Roberts, J. D. Tags: Arrhythmias, Electrophysiology, Sudden Cardiac Death, Genetics Editorial Source Type: research

Letter by Vermeer et al Regarding Article, "Phenotypic Spectrum of HCN4 Mutations: A Clinical Case" [Letter to the Editor]
(Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - May 4, 2018 Category: Cardiology Authors: Vermeer, A. M. C., Christiaans, I., Lodder, E. M. Tags: Genetics Letter to the Editor Source Type: research

Application of Genetic Epidemiology to CETP (Cholesteryl Ester Transfer Protein) Concentration and Risk of Cardiovascular Disease [Editorial]
(Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - May 4, 2018 Category: Cardiology Authors: Merriman, T. R. Tags: Etiology, Lipids and Cholesterol, Epidemiology, Genetic, Association Studies, Chronic Ischemic Heart Disease Editorial Source Type: research

SCN5A (NaV1.5) Variant Functional Perturbation and Clinical Presentation: Variants of a Certain Significance [Original Articles]
Conclusions: NaV1.5 in vitro electrophysiological parameters are correlated with Brugada syndrome and long QT syndrome disease risk. Our data emphasize the value of in vitro electrophysiological characterization and incorporating counts of affected and unaffected carriers to aid variant classification. This quantitative analysis of the electrophysiological literature should aid the interpretation of NaV1.5 variant electrophysiological abnormalities and help improve NaV1.5 variant classification. (Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - May 4, 2018 Category: Cardiology Authors: Kroncke, B. M., Glazer, A. M., Smith, D. K., Blume, J. D., Roden, D. M. Tags: Arrhythmias, Electrophysiology, Ion Channels/Membrane Transport, Genetics Original Articles Source Type: research

CETP (Cholesteryl Ester Transfer Protein) Concentration: A Genome-Wide Association Study Followed by Mendelian Randomization on Coronary Artery Disease [Original Articles]
Conclusions: This is the first genome-wide association study identifying independent variants that largely determine CETP concentration. Although high-density lipoprotein cholesterol is not a causal risk factor for CAD, it has been unequivocally demonstrated that low-density lipoprotein cholesterol lowering is proportionally associated with a lower CAD risk. Therefore, the results of our study are fully consistent with the notion that CETP concentration is causally associated with CAD through low-density lipoprotein cholesterol. (Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - May 4, 2018 Category: Cardiology Authors: Blauw, L. L., Li-Gao, R., Noordam, R., de Mutsert, R., Trompet, S., Berbee, J. F. P., Wang, Y., van Klinken, J. B., Christen, T., van Heemst, D., Mook-Kanamori, D. O., Rosendaal, F. R., Jukema, J. W., Rensen, P. C. N., Willems van Dijk, K. Tags: Lipids and Cholesterol, Cardiovascular Disease, Genetic, Association Studies, Genetics Original Articles Source Type: research

In This Issue: April [In This Issue: April]
(Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - April 16, 2018 Category: Cardiology Tags: In This Issue: April Source Type: research