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1,126 results on '"Shimizu W"'

1. COPD advances in left ventricular diastolic dysfunction

Author

Kubota Y, Asai K, Murai K, Tsukada YT, Hayashi H, Saito Y, Azuma A, Gemma A, and Shimizu W

Subjects
Chronic obstructive pulmonary disease, heart failure, left ventricular diastolic dysfunction, Diseases of the respiratory system, RC705-779
Abstract

Yoshiaki Kubota,1 Kuniya Asai,1 Koji Murai,1 Yayoi Tetsuou Tsukada,1 Hiroki Hayashi,2 Yoshinobu Saito,2 Arata Azuma,2 Akihiko Gemma,2 Wataru Shimizu1 1Department of Cardiovascular Medicine, 2Department of Pulmonary Medicine and Oncology, Graduate School of Medicine, Nippon Medical School, Tokyo, Japan Background: COPD is concomitantly present in ~30% of patients with heart failure. Here, we investigated the pulmonary function test parameters for left ventricular (LV) diastolic dysfunction and the relationship between pulmonary function and LV diastolic function in patients with COPD. Patients and methods: Overall, 822 patients who underwent a pulmonary function test and echocardiography simultaneously between January 2011 and December 2012 were evaluated. Finally, 115 patients with COPD and 115 age- and sex-matched control patients with an LV ejection fraction of ≥50% were enrolled. Results: The mean age of the patients was 74.4±10.4 years, and 72.3% were men. No significant differences were found between the two groups regarding comorbidities, such as hypertension, diabetes mellitus, and anemia. The index of LV diastolic function (E/e') and the proportion of patients with high E/e' (defined as E/e' ≥15) were significantly higher in patients with COPD than in control patients (10.5% vs 9.1%, P=0.009; 11.3% vs 4.3%, P=0.046). E/e' was significantly correlated with the residual volume/total lung capacity ratio. Univariate and multivariate analyses revealed severe COPD (Global Initiative for Chronic Obstructive Lung Disease III or IV) to be a significant predictive factor for high E/e' (odds ratio [OR] 5.81, 95% confidence interval [CI] 2.13–15.89, P=0.001 and OR 6.00, 95% CI 2.08–17.35, P=0.001, respectively). Conclusion: Our data suggest that LV diastolic dysfunction as a complication of COPD may be associated with mechanical exclusion of the heart by pulmonary overinflation. Keywords: COPD, heart failure, left ventricular diastolic dysfunction

Published
2016

2. Impact of β-blocker selectivity on long-term outcomes in congestive heart failure patients with chronic obstructive pulmonary disease

Author

Kubota Y, Asai K, Furuse E, Nakamura S, Murai K, Tsukada YT, and Shimizu W

Subjects
Diseases of the respiratory system, RC705-779
Abstract

Yoshiaki Kubota, Kuniya Asai, Erito Furuse, Shunichi Nakamura, Koji Murai, Yayoi Tetsuou Tsukada, Wataru Shimizu Department of Medicine (Division of Cardiology), Nippon Medical School, Bunkyo-ku, Tokyo, Japan Background: Chronic obstructive pulmonary disease (COPD) is present in approximately one-third of all congestive heart failure (CHF) patients, and is a key cause of underprescription and underdosing of β-blockers, largely owing to concerns about precipitating respiratory deterioration. For these reasons, the aim of this study was to evaluate the impact of β-blockers on the long-term outcomes in CHF patients with COPD. In addition, we compared the effects of two different β-blockers, carvedilol and bisoprolol. Methods: The study was a retrospective, non-randomized, single center trial. Acute decompensated HF patients with COPD were classified according to the oral drug used at discharge into β-blocker (n=86; carvedilol [n=52] or bisoprolol [n=34]) and non-β-blocker groups (n=46). The primary endpoint was all-cause mortality between the β-blocker and non-β-blocker groups during a mean clinical follow-up of 33.9 months. The secondary endpoints were the differences in all-cause mortality and the hospitalization rates for CHF and/or COPD exacerbation between patients receiving carvedilol and bisoprolol. Results: The mortality rate was higher in patients without β-blockers compared with those taking β-blockers (log-rank P=0.039), and univariate analyses revealed that the use of β-blockers was the only factor significantly correlated with the mortality rate (hazard ratio: 0.41; 95% confidence interval: 0.17–0.99; P=0.047). Moreover, the rate of CHF and/or COPD exacerbation was higher in patients treated with carvedilol compared with bisoprolol (log-rank P=0.033). In the multivariate analysis, only a past history of COPD exacerbation significantly increased the risk of re-hospitalization due to CHF and/or COPD exacerbation (adjusted hazard ratio: 3.11; 95% confidence interval: 1.47–6.61; P=0.003). Conclusion: These findings support the recommendations to use β-blockers in HF patients with COPD. Importantly, bisoprolol reduced the incidence of CHF and/or COPD exacerbation compared with carvedilol. Keywords: mortality, selective β-blocker

Published
2015

3. Clinical Management of Brugada Syndrome: Commentary From the Experts

Author

Cutler, M, Eckhardt, L, Kaufman, E, Arbelo, E, Behr, E, Brugada, P, Cerrone, M, Crotti, L, Deasmundis, C, Gollob, M, Horie, M, Huang, D, Krahn, A, London, B, Lubitz, S, Mackall, J, Nademanee, K, Perez, M, Probst, V, Roden, D, Sacher, F, Sarquella-Brugada, G, Scheinman, M, Shimizu, W, Shoemaker, B, Sy, R, Watanabe, A, Wilde, A, Cutler M. J., Eckhardt L. L., Kaufman E. S., Arbelo E., Behr E. R., Brugada P., Cerrone M., Crotti L., deAsmundis C., Gollob M. H., Horie M., Huang D. T., Krahn A. D., London B., Lubitz S. A., Mackall J. A., Nademanee K., Perez M. V., Probst V., Roden D. M., Sacher F., Sarquella-Brugada G., Scheinman M. M., Shimizu W., Shoemaker B., Sy R. W., Watanabe A., Wilde A. A. M., Cutler, M, Eckhardt, L, Kaufman, E, Arbelo, E, Behr, E, Brugada, P, Cerrone, M, Crotti, L, Deasmundis, C, Gollob, M, Horie, M, Huang, D, Krahn, A, London, B, Lubitz, S, Mackall, J, Nademanee, K, Perez, M, Probst, V, Roden, D, Sacher, F, Sarquella-Brugada, G, Scheinman, M, Shimizu, W, Shoemaker, B, Sy, R, Watanabe, A, Wilde, A, Cutler M. J., Eckhardt L. L., Kaufman E. S., Arbelo E., Behr E. R., Brugada P., Cerrone M., Crotti L., deAsmundis C., Gollob M. H., Horie M., Huang D. T., Krahn A. D., London B., Lubitz S. A., Mackall J. A., Nademanee K., Perez M. V., Probst V., Roden D. M., Sacher F., Sarquella-Brugada G., Scheinman M. M., Shimizu W., Shoemaker B., Sy R. W., Watanabe A., and Wilde A. A. M.

Abstract

Although there is consensus on the management of patients with Brugada Syndrome with high risk for sudden cardiac arrest, asymptomatic or intermediate-risk patients present clinical management challenges. This document explores the management opinions of experts throughout the world for patients with Brugada Syndrome who do not fit guideline recommendations. Four real-world clinical scenarios were presented with commentary from small expert groups for each case. All authors voted on case-specific questions to evaluate the level of consensus among the entire group in nuanced diagnostic and management decisions relevant to each case. Points of agreement, points of controversy, and gaps in knowledge are highlighted.

Published
2024

7. Manifestation of conduction block zones by substrate mapping evaluated under multidirectional pacing during ventricular tachycardia ablation

Author

Hachisuka, M, primary, Iwasaki, Y, additional, Toida, Y, additional, Okajima, S, additional, Ito, N, additional, Arai, T, additional, Kobayashi, S, additional, Fujimoto, Y, additional, Hagiwara, K, additional, Murata, H, additional, Aizawa, Y, additional, Yodogawa, Y, additional, Shimizu, W, additional, and Asai, K, additional

Published
2024
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8. Modeling familial sinus node dysfunction with a large intergenic deletion between PITX2 and ANK2 using iPS cell-derived sinoatrial nodal-like cardiomyocytes

Author

Aizawa, T, primary, Makiyama, T, additional, Murata, H, additional, Takaki, T, additional, Baudic, M, additional, Gao, J, additional, Imamura, T, additional, Ohno, S, additional, Yoshida, Y, additional, Shimizu, W, additional, Makita, N, additional, Barc, J, additional, Schott, J J, additional, Horie, M, additional, and Kimura, T, additional

Published
2023
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11. European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases

Author

Wilde, AAM, Semsarian, C, Márquez, MF, Sepehri Shamloo, A, Ackerman, MJ, Ashley, EA, Sternick, EB, Barajas-Martinez, H, Behr, ER, Bezzina, CR, Breckpot, J, Charron, P, Chockalingam, P, Crotti, L, Gollob, MH, Lubitz, S, Makita, N, Ohno, S, Ortiz-Genga, M, Sacilotto, L, Schulze-Bahr, E, Shimizu, W, Sotoodehnia, N, Tadros, R, Ware, JS, Winlaw, DS, Kaufman, ES, Document Reviewers, Aiba, T, Bollmann, A, Choi, J-I, Dalal, A, Darrieux, F, Giudicessi, J, Guerchicoff, M, Hong, K, Krahn, AD, MacIntyre, C, Mackall, JA, Mont, L, Napolitano, C, Ochoa, JP, Peichl, P, Pereira, AC, Schwartz, PJ, Skinner, J, Stellbrink, C, Tfelt-Hansen, J, Deneke, T, M Wilde, A, Semsarian, C, F Márquez, M, Sepehri Shamloo, A, J Ackerman, M, A Ashley, E, Sternick Eduardo, B, Barajas-Martinez, H, R Behr, E, R Bezzina, C, Breckpot, J, Charron, P, Chockalingam, P, Crotti, L, H Gollob, M, Lubitz, S, Makita, N, Ohno, S, Ortiz-Genga, M, Sacilotto, L, Schulze-Bahr, E, Shimizu, W, Sotoodehnia, N, Tadros, R, S Ware, J, S Winlaw, D, S Kaufman, E, Aiba, T, Bollmann, A, Choi, J, Dalal, A, Darrieux, F, Giudicessi, J, Guerchicoff, M, Hong, K, D Krahn, A, Mac Intyre, C, A Mackall, J, Mont, L, Napolitano, C, Ochoa Juan, P, Peichl, P, C Pereira, A, J Schwartz, P, Skinner, J, Stellbrink, C, Tfelt-Hansen, J, Deneke, T, British Heart Foundation, Sir Jules Thorn Charitable Trust, Cardiology, and ACS - Heart failure & arrhythmias

Subjects
Cardiac & Cardiovascular Systems, Consensus, Asia, GENOTYPE-PHENOTYPE CORRELATION, Consensu, LONG-QT SYNDROME, CARDIOLOGY WORKING GROUP, 0903 Biomedical Engineering, HYPERTROPHIC CARDIOMYOPATHY SUSCEPTIBILITY, Developed in partnership with and endorsed by the European Heart Rhythm Association (EHRA), a branch of the European Society of Cardiology (ESC), the Heart Rhythm Society (HRS), the Asia Pacific Heart Rhythm Society (APHRS), and the Latin American Heart Rhythm Society (LAHRS), Physiology (medical), Atrial Fibrillation, Humans, Genetic Testing, GENOME-WIDE ASSOCIATION, 1102 Cardiorespiratory Medicine and Haematology, TERM-FOLLOW-UP, COPY NUMBER VARIATION, Science & Technology, POLYMORPHIC VENTRICULAR-TACHYCARDIA, SUDDEN UNEXPLAINED DEATH, OF-FUNCTION MUTATION, Latin America, Cardiovascular System & Hematology, Cardiovascular System & Cardiology, Cardiology and Cardiovascular Medicine, Life Sciences & Biomedicine, Document Reviewers, Human
Abstract

Genetic testing has advanced significantly since the publication of the 2011 HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies.1 In addition to single-gene testing, there is now the ability to perform whole-exome sequencing (WES) and whole-genome sequencing (WGS). There is growing appreciation of oligogenic disorders,2,3 the role of modifier genes,2 and the use of genetic testing for risk stratification, even in common cardiac diseases such as coronary artery disease or atrial fibrillation (AFib), including a proposal for a score awaiting validation.4 This document reviews the state of genetic testing at the present time, and addresses the questions of what tests to perform and when to perform them. It should be noted that, as articulated in a 1999 Task Force Document by the European Society of Cardiology (ESC) on the legal value of medical guidelines,5 ‘The guidelines from an international organization, such as the ESC, have no specific legal territory and have no legally enforcing character. Nonetheless, in so far as they represent the state-of-the-art, they may be used as indicating deviation from evidence-based medicine in cases of questioned liability’. In the case of potentially lethal and treatable conditions such as catecholaminergic polymorphic ventricular tachycardia (CPVT) or long QT syndrome (LQTS), it is the responsibility of the physician, preferably in conjunction with an expert genetics team, to communicate to the patient/family the critical importance of family screening, whether this be facilitated by cascade genetic testing or by broader clinical family screening

Published
2022

15. Estimating the Posttest Probability of Long QT Syndrome Diagnosis for Rare KCNH2 Variants

Author

Kozek, K, Wada, Y, Sala, L, Denjoy, I, Egly, C, O'Neill, M, Aiba, T, Shimizu, W, Makita, N, Ishikawa, T, Crotti, L, Spazzolini, C, Kotta, M, Dagradi, F, Castelletti, S, Pedrazzini, M, Gnecchi, M, Leenhardt, A, Salem, J, Ohno, S, Zuo, Y, Glazer, A, Mosley, J, Roden, D, Knollmann, B, Blume, J, Extramiana, F, Schwartz, P, Horie, M, Kroncke, B, Kozek K., Wada Y., Sala L., Denjoy I., Egly C., O'Neill M. J., Aiba T., Shimizu W., Makita N., Ishikawa T., Crotti L., Spazzolini C., Kotta M. -C., Dagradi F., Castelletti S., Pedrazzini M., Gnecchi M., Leenhardt A., Salem J. -E., Ohno S., Zuo Y., Glazer A. M., Mosley J. D., Roden D. M., Knollmann B. C., Blume J. D., Extramiana F., Schwartz P. J., Horie M., Kroncke B. M., Kozek, K, Wada, Y, Sala, L, Denjoy, I, Egly, C, O'Neill, M, Aiba, T, Shimizu, W, Makita, N, Ishikawa, T, Crotti, L, Spazzolini, C, Kotta, M, Dagradi, F, Castelletti, S, Pedrazzini, M, Gnecchi, M, Leenhardt, A, Salem, J, Ohno, S, Zuo, Y, Glazer, A, Mosley, J, Roden, D, Knollmann, B, Blume, J, Extramiana, F, Schwartz, P, Horie, M, Kroncke, B, Kozek K., Wada Y., Sala L., Denjoy I., Egly C., O'Neill M. J., Aiba T., Shimizu W., Makita N., Ishikawa T., Crotti L., Spazzolini C., Kotta M. -C., Dagradi F., Castelletti S., Pedrazzini M., Gnecchi M., Leenhardt A., Salem J. -E., Ohno S., Zuo Y., Glazer A. M., Mosley J. D., Roden D. M., Knollmann B. C., Blume J. D., Extramiana F., Schwartz P. J., Horie M., and Kroncke B. M.

Abstract

Background: The proliferation of genetic profiling has revealed many associations between genetic variations and disease. However, large-scale phenotyping efforts in largely healthy populations, coupled with DNA sequencing, suggest variants currently annotated as pathogenic are more common in healthy populations than previously thought. In addition, novel and rare variants are frequently observed in genes associated with disease both in healthy individuals and those under suspicion of disease. This raises the question of whether these variants can be useful predictors of disease. To answer this question, we assessed the degree to which the presence of a variant in the cardiac potassium channel gene KCNH2 was diagnostically predictive for the autosomal dominant long QT syndrome. Methods: We estimated the probability of a long QT diagnosis given the presence of each KCNH2 variant using Bayesian methods that incorporated variant features such as changes in variant function, protein structure, and in silico predictions. We call this estimate the posttest probability of disease. Our method was applied to over 4000 individuals heterozygous for 871 missense or in-frame insertion/deletion variants in KCNH2 and validated against a separate international cohort of 933 individuals heterozygous for 266 missense or in-frame insertion/deletion variants. Results: Our method was well-calibrated for the observed fraction of heterozygotes diagnosed with long QT syndrome. Heuristically, we found that the innate diagnostic information one learns about a variant from 3-dimensional variant location, in vitro functional data, and in silico predictors is equivalent to the diagnostic information one learns about that same variant by clinically phenotyping 10 heterozygotes. Most importantly, these data can be obtained in the absence of any clinical observations. Conclusions: We show how variant-specific features can inform a prior probability of disease for rare variants even in the absence

Published
2021

16. Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls

Author

Walsh, R, Lahrouchi, N, Tadros, R, Kyndt, F, Glinge, C, Postema, P, Amin, A, Nannenberg, E, Ware, J, Whiffin, N, Mazzarotto, F, Skoric-Milosavljevic, D, Krijger, C, Arbelo, E, Babuty, D, Barajas-Martinez, H, Beckmann, B, Bezieau, S, Bos, J, Breckpot, J, Campuzano, O, Castelletti, S, Celen, C, Clauss, S, Corveleyn, A, Crotti, L, Dagradi, F, de Asmundis, C, Denjoy, I, Dittmann, S, Ellinor, P, Ortuno, C, Giustetto, C, Gourraud, J, Hazeki, D, Horie, M, Ishikawa, T, Itoh, H, Kaneko, Y, Kanters, J, Kimoto, H, Kotta, M, Krapels, I, Kurabayashi, M, Lazarte, J, Leenhardt, A, Loeys, B, Lundin, C, Makiyama, T, Mansourati, J, Martins, R, Mazzanti, A, Morner, S, Napolitano, C, Ohkubo, K, Papadakis, M, Rudic, B, Molina, M, Sacher, F, Sahin, H, Sarquella-Brugada, G, Sebastiano, R, Sharma, S, Sheppard, M, Shimamoto, K, Shoemaker, M, Stallmeyer, B, Steinfurt, J, Tanaka, Y, Tester, D, Usuda, K, van der Zwaag, P, Van Dooren, S, Van Laer, L, Winbo, A, Winkel, B, Yamagata, K, Zumhagen, S, Volders, P, Lubitz, S, Antzelevitch, C, Platonov, P, Odening, K, Roden, D, Roberts, J, Skinner, J, Tfelt-Hansen, J, van den Berg, M, Olesen, M, Lambiase, P, Borggrefe, M, Hayashi, K, Rydberg, A, Nakajima, T, Yoshinaga, M, Saenen, J, Kaab, S, Brugada, P, Robyns, T, Giachino, D, Ackerman, M, Brugada, R, Brugada, J, Gimeno, J, Hasdemir, C, Guicheney, P, Priori, S, Schulze-Bahr, E, Makita, N, Schwartz, P, Shimizu, W, Aiba, T, Schott, J, Redon, R, Ohno, S, Probst, V, Arnaout, A, Amelot, M, Anselme, F, Billon, O, Defaye, P, Dupuis, J, Jesel, L, Laurent, G, Maury, P, Pasquie, J, Wiart, F, Behr, E, Barc, J, Bezzina, C, Walsh R., Lahrouchi N., Tadros R., Kyndt F., Glinge C., Postema P. G., Amin A. S., Nannenberg E. A., Ware J. S., Whiffin N., Mazzarotto F., Skoric-Milosavljevic D., Krijger C., Arbelo E., Babuty D., Barajas-Martinez H., Beckmann B. M., Bezieau S., Bos J. M., Breckpot J., Campuzano O., Castelletti S., Celen C., Clauss S., Corveleyn A., Crotti L., Dagradi F., de Asmundis C., Denjoy I., Dittmann S., Ellinor P. T., Ortuno C. G., Giustetto C., Gourraud J. -B., Hazeki D., Horie M., Ishikawa T., Itoh H., Kaneko Y., Kanters J. K., Kimoto H., Kotta M. -C., Krapels I. P. C., Kurabayashi M., Lazarte J., Leenhardt A., Loeys B. L., Lundin C., Makiyama T., Mansourati J., Martins R. P., Mazzanti A., Morner S., Napolitano C., Ohkubo K., Papadakis M., Rudic B., Molina M. S., Sacher F., Sahin H., Sarquella-Brugada G., Sebastiano R., Sharma S., Sheppard M. N., Shimamoto K., Shoemaker M. B., Stallmeyer B., Steinfurt J., Tanaka Y., Tester D. J., Usuda K., van der Zwaag P. A., Van Dooren S., Van Laer L., Winbo A., Winkel B. G., Yamagata K., Zumhagen S., Volders P. G. A., Lubitz S. A., Antzelevitch C., Platonov P. G., Odening K. E., Roden D. M., Roberts J. D., Skinner J. R., Tfelt-Hansen J., van den Berg M. P., Olesen M. S., Lambiase P. D., Borggrefe M., Hayashi K., Rydberg A., Nakajima T., Yoshinaga M., Saenen J. B., Kaab S., Brugada P., Robyns T., Giachino D. F., Ackerman M. J., Brugada R., Brugada J., Gimeno J. R., Hasdemir C., Guicheney P., Priori S. G., Schulze-Bahr E., Makita N., Schwartz P. J., Shimizu W., Aiba T., Schott J. -J., Redon R., Ohno S., Probst V., Arnaout A. A., Amelot M., Anselme F., Billon O., Defaye P., Dupuis J. -M., Jesel L., Laurent G., Maury P., Pasquie J. -L., Wiart F., Behr E. R., Barc J., Bezzina C. R., Walsh, R, Lahrouchi, N, Tadros, R, Kyndt, F, Glinge, C, Postema, P, Amin, A, Nannenberg, E, Ware, J, Whiffin, N, Mazzarotto, F, Skoric-Milosavljevic, D, Krijger, C, Arbelo, E, Babuty, D, Barajas-Martinez, H, Beckmann, B, Bezieau, S, Bos, J, Breckpot, J, Campuzano, O, Castelletti, S, Celen, C, Clauss, S, Corveleyn, A, Crotti, L, Dagradi, F, de Asmundis, C, Denjoy, I, Dittmann, S, Ellinor, P, Ortuno, C, Giustetto, C, Gourraud, J, Hazeki, D, Horie, M, Ishikawa, T, Itoh, H, Kaneko, Y, Kanters, J, Kimoto, H, Kotta, M, Krapels, I, Kurabayashi, M, Lazarte, J, Leenhardt, A, Loeys, B, Lundin, C, Makiyama, T, Mansourati, J, Martins, R, Mazzanti, A, Morner, S, Napolitano, C, Ohkubo, K, Papadakis, M, Rudic, B, Molina, M, Sacher, F, Sahin, H, Sarquella-Brugada, G, Sebastiano, R, Sharma, S, Sheppard, M, Shimamoto, K, Shoemaker, M, Stallmeyer, B, Steinfurt, J, Tanaka, Y, Tester, D, Usuda, K, van der Zwaag, P, Van Dooren, S, Van Laer, L, Winbo, A, Winkel, B, Yamagata, K, Zumhagen, S, Volders, P, Lubitz, S, Antzelevitch, C, Platonov, P, Odening, K, Roden, D, Roberts, J, Skinner, J, Tfelt-Hansen, J, van den Berg, M, Olesen, M, Lambiase, P, Borggrefe, M, Hayashi, K, Rydberg, A, Nakajima, T, Yoshinaga, M, Saenen, J, Kaab, S, Brugada, P, Robyns, T, Giachino, D, Ackerman, M, Brugada, R, Brugada, J, Gimeno, J, Hasdemir, C, Guicheney, P, Priori, S, Schulze-Bahr, E, Makita, N, Schwartz, P, Shimizu, W, Aiba, T, Schott, J, Redon, R, Ohno, S, Probst, V, Arnaout, A, Amelot, M, Anselme, F, Billon, O, Defaye, P, Dupuis, J, Jesel, L, Laurent, G, Maury, P, Pasquie, J, Wiart, F, Behr, E, Barc, J, Bezzina, C, Walsh R., Lahrouchi N., Tadros R., Kyndt F., Glinge C., Postema P. G., Amin A. S., Nannenberg E. A., Ware J. S., Whiffin N., Mazzarotto F., Skoric-Milosavljevic D., Krijger C., Arbelo E., Babuty D., Barajas-Martinez H., Beckmann B. M., Bezieau S., Bos J. M., Breckpot J., Campuzano O., Castelletti S., Celen C., Clauss S., Corveleyn A., Crotti L., Dagradi F., de Asmundis C., Denjoy I., Dittmann S., Ellinor P. T., Ortuno C. G., Giustetto C., Gourraud J. -B., Hazeki D., Horie M., Ishikawa T., Itoh H., Kaneko Y., Kanters J. K., Kimoto H., Kotta M. -C., Krapels I. P. C., Kurabayashi M., Lazarte J., Leenhardt A., Loeys B. L., Lundin C., Makiyama T., Mansourati J., Martins R. P., Mazzanti A., Morner S., Napolitano C., Ohkubo K., Papadakis M., Rudic B., Molina M. S., Sacher F., Sahin H., Sarquella-Brugada G., Sebastiano R., Sharma S., Sheppard M. N., Shimamoto K., Shoemaker M. B., Stallmeyer B., Steinfurt J., Tanaka Y., Tester D. J., Usuda K., van der Zwaag P. A., Van Dooren S., Van Laer L., Winbo A., Winkel B. G., Yamagata K., Zumhagen S., Volders P. G. A., Lubitz S. A., Antzelevitch C., Platonov P. G., Odening K. E., Roden D. M., Roberts J. D., Skinner J. R., Tfelt-Hansen J., van den Berg M. P., Olesen M. S., Lambiase P. D., Borggrefe M., Hayashi K., Rydberg A., Nakajima T., Yoshinaga M., Saenen J. B., Kaab S., Brugada P., Robyns T., Giachino D. F., Ackerman M. J., Brugada R., Brugada J., Gimeno J. R., Hasdemir C., Guicheney P., Priori S. G., Schulze-Bahr E., Makita N., Schwartz P. J., Shimizu W., Aiba T., Schott J. -J., Redon R., Ohno S., Probst V., Arnaout A. A., Amelot M., Anselme F., Billon O., Defaye P., Dupuis J. -M., Jesel L., Laurent G., Maury P., Pasquie J. -L., Wiart F., Behr E. R., Barc J., and Bezzina C. R.

Abstract

Purpose: Stringent variant interpretation guidelines can lead to high rates of variants of uncertain significance (VUS) for genetically heterogeneous disease like long QT syndrome (LQTS) and Brugada syndrome (BrS). Quantitative and disease-specific customization of American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines can address this false negative rate. Methods: We compared rare variant frequencies from 1847 LQTS (KCNQ1/KCNH2/SCN5A) and 3335 BrS (SCN5A) cases from the International LQTS/BrS Genetics Consortia to population-specific gnomAD data and developed disease-specific criteria for ACMG/AMP evidence classes—rarity (PM2/BS1 rules) and case enrichment of individual (PS4) and domain-specific (PM1) variants. Results: Rare SCN5A variant prevalence differed between European (20.8%) and Japanese (8.9%) BrS patients (p = 5.7 × 10−18) and diagnosis with spontaneous (28.7%) versus induced (15.8%) Brugada type 1 electrocardiogram (ECG) (p = 1.3 × 10−13). Ion channel transmembrane regions and specific N-terminus (KCNH2) and C-terminus (KCNQ1/KCNH2) domains were characterized by high enrichment of case variants and >95% probability of pathogenicity. Applying the customized rules, 17.4% of European BrS and 74.8% of European LQTS cases had (likely) pathogenic variants, compared with estimated diagnostic yields (case excess over gnomAD) of 19.2%/82.1%, reducing VUS prevalence to close to background rare variant frequency. Conclusion: Large case–control data sets enable quantitative implementation of ACMG/AMP guidelines and increased sensitivity for inherited arrhythmia genetic testing.

Published
2021

18. Transethnic genome-wide association study provides insights in the genetic architecture and heritability of long QT syndrome

Author

Lahrouchi, N, Tadros, R, Crotti, L, Mizusawa, Y, Postema, P, Beekman, L, Walsh, R, Hasegawa, K, Barc, J, Ernsting, M, Turkowski, K, Mazzanti, A, Beckmann, B, Shimamoto, K, Diamant, U, Wijeyeratne, Y, Kucho, Y, Robyns, T, Ishikawa, T, Arbelo, E, Christiansen, M, Winbo, A, Jabbari, R, Lubitz, S, Steinfurt, J, Rudic, B, Loeys, B, Shoemaker, M, Weeke, P, Pfeiffer, R, Davies, B, Andorin, A, Hofman, N, Dagradi, F, Pedrazzini, M, Tester, D, Bos, J, Sarquella-Brugada, G, Campuzano, Ó, Platonov, P, Stallmeyer, B, Zumhagen, S, Nannenberg, E, Veldink, J, van den Berg, L, Al-Chalabi, A, Shaw, C, Shaw, P, Morrison, K, Andersen, P, Müller-Nurasyid, M, Cusi, D, Barlassina, C, Galan, P, Lathrop, M, Munter, M, Werge, T, Ribasés, M, Aung, T, Khor, C, Ozaki, M, Lichtner, P, Meitinger, T, van Tintelen, J, Hoedemaekers, Y, Denjoy, I, Leenhardt, A, Napolitano, C, Shimizu, W, Schott, J, Gourraud, J, Makiyama, T, Ohno, S, Itoh, H, Krahn, A, Antzelevitch, C, Roden, D, Saenen, J, Borggrefe, M, Odening, K, Ellinor, P, Tfelt-Hansen, J, Skinner, J, van den Berg, M, Olesen, M, Brugada, J, Brugada, R, Makita, N, Breckpot, J, Yoshinaga, M, Behr, E, Rydberg, A, Aiba, T, Kääb, S, Priori, S, Guicheney, P, Tan, H, Newton-Cheh, C, Ackerman, M, Schwartz, P, Schulze-Bahr, E, Probst, V, Horie, M, Wilde, A, Tanck, M, Bezzina, C, Lahrouchi N, Tadros R, Crotti L, Mizusawa Y, Postema PG, Beekman L, Walsh R, Hasegawa K, Barc J, Ernsting M, Turkowski KL, Mazzanti A, Beckmann BM, Shimamoto K, Diamant UB, Wijeyeratne YD, Kucho Y, Robyns T, Ishikawa T, Arbelo E, Christiansen M, Winbo A, Jabbari R, Lubitz SA, Steinfurt J, Rudic B, Loeys B, Shoemaker MB, Weeke PE, Pfeiffer R, Davies B, Andorin A, Hofman N, Dagradi F, Pedrazzini M, Tester DJ, Bos JM, Sarquella-Brugada G, Campuzano Ó, Platonov PG, Stallmeyer B, Zumhagen S, Nannenberg EA, Veldink JH, van den Berg LH, Al-Chalabi A, Shaw CE, Shaw PJ, Morrison KE, Andersen PM, Müller-Nurasyid M, Cusi D, Barlassina C, Galan P, Lathrop M, Munter M, Werge T, Ribasés M, Aung T, Khor CC, Ozaki M, Lichtner P, Meitinger T, van Tintelen JP, Hoedemaekers Y, Denjoy I, Leenhardt A, Napolitano C, Shimizu W, Schott JJ, Gourraud JB, Makiyama T, Ohno S, Itoh H, Krahn AD, Antzelevitch C, Roden DM, Saenen J, Borggrefe M, Odening KE, Ellinor PT, Tfelt-Hansen J, Skinner JR, van den Berg MP, Olesen MS, Brugada J, Brugada R, Makita N, Breckpot J, Yoshinaga M, Behr ER, Rydberg A, Aiba T, Kääb S, Priori SG, Guicheney P, Tan HL, Newton-Cheh C, Ackerman MJ, Schwartz PJ, Schulze-Bahr E, Probst V, Horie M, Wilde AA, Tanck MWT, Bezzina CR., Lahrouchi, N, Tadros, R, Crotti, L, Mizusawa, Y, Postema, P, Beekman, L, Walsh, R, Hasegawa, K, Barc, J, Ernsting, M, Turkowski, K, Mazzanti, A, Beckmann, B, Shimamoto, K, Diamant, U, Wijeyeratne, Y, Kucho, Y, Robyns, T, Ishikawa, T, Arbelo, E, Christiansen, M, Winbo, A, Jabbari, R, Lubitz, S, Steinfurt, J, Rudic, B, Loeys, B, Shoemaker, M, Weeke, P, Pfeiffer, R, Davies, B, Andorin, A, Hofman, N, Dagradi, F, Pedrazzini, M, Tester, D, Bos, J, Sarquella-Brugada, G, Campuzano, Ó, Platonov, P, Stallmeyer, B, Zumhagen, S, Nannenberg, E, Veldink, J, van den Berg, L, Al-Chalabi, A, Shaw, C, Shaw, P, Morrison, K, Andersen, P, Müller-Nurasyid, M, Cusi, D, Barlassina, C, Galan, P, Lathrop, M, Munter, M, Werge, T, Ribasés, M, Aung, T, Khor, C, Ozaki, M, Lichtner, P, Meitinger, T, van Tintelen, J, Hoedemaekers, Y, Denjoy, I, Leenhardt, A, Napolitano, C, Shimizu, W, Schott, J, Gourraud, J, Makiyama, T, Ohno, S, Itoh, H, Krahn, A, Antzelevitch, C, Roden, D, Saenen, J, Borggrefe, M, Odening, K, Ellinor, P, Tfelt-Hansen, J, Skinner, J, van den Berg, M, Olesen, M, Brugada, J, Brugada, R, Makita, N, Breckpot, J, Yoshinaga, M, Behr, E, Rydberg, A, Aiba, T, Kääb, S, Priori, S, Guicheney, P, Tan, H, Newton-Cheh, C, Ackerman, M, Schwartz, P, Schulze-Bahr, E, Probst, V, Horie, M, Wilde, A, Tanck, M, Bezzina, C, Lahrouchi N, Tadros R, Crotti L, Mizusawa Y, Postema PG, Beekman L, Walsh R, Hasegawa K, Barc J, Ernsting M, Turkowski KL, Mazzanti A, Beckmann BM, Shimamoto K, Diamant UB, Wijeyeratne YD, Kucho Y, Robyns T, Ishikawa T, Arbelo E, Christiansen M, Winbo A, Jabbari R, Lubitz SA, Steinfurt J, Rudic B, Loeys B, Shoemaker MB, Weeke PE, Pfeiffer R, Davies B, Andorin A, Hofman N, Dagradi F, Pedrazzini M, Tester DJ, Bos JM, Sarquella-Brugada G, Campuzano Ó, Platonov PG, Stallmeyer B, Zumhagen S, Nannenberg EA, Veldink JH, van den Berg LH, Al-Chalabi A, Shaw CE, Shaw PJ, Morrison KE, Andersen PM, Müller-Nurasyid M, Cusi D, Barlassina C, Galan P, Lathrop M, Munter M, Werge T, Ribasés M, Aung T, Khor CC, Ozaki M, Lichtner P, Meitinger T, van Tintelen JP, Hoedemaekers Y, Denjoy I, Leenhardt A, Napolitano C, Shimizu W, Schott JJ, Gourraud JB, Makiyama T, Ohno S, Itoh H, Krahn AD, Antzelevitch C, Roden DM, Saenen J, Borggrefe M, Odening KE, Ellinor PT, Tfelt-Hansen J, Skinner JR, van den Berg MP, Olesen MS, Brugada J, Brugada R, Makita N, Breckpot J, Yoshinaga M, Behr ER, Rydberg A, Aiba T, Kääb S, Priori SG, Guicheney P, Tan HL, Newton-Cheh C, Ackerman MJ, Schwartz PJ, Schulze-Bahr E, Probst V, Horie M, Wilde AA, Tanck MWT, and Bezzina CR.

Abstract

Background: Long QT syndrome (LQTS) is a rare genetic disorder and a major preventable cause of sudden cardiac death in the young. A causal rare genetic variant with large effect size is identified in up to 80% of probands (genotype positive) and cascade family screening shows incomplete penetrance of genetic variants. Furthermore, a proportion of cases meeting diagnostic criteria for LQTS remain genetically elusive despite genetic testing of established genes (genotype negative). These observations raise the possibility that common genetic variants with small effect size contribute to the clinical picture of LQTS. This study aimed to characterize and quantify the contribution of common genetic variation to LQTS disease susceptibility. Methods: We conducted genome-wide association studies followed by transethnic meta-analysis in 1656 unrelated patients with LQTS of European or Japanese ancestry and 9890 controls to identify susceptibility single nucleotide polymorphisms. We estimated the common variant heritability of LQTS and tested the genetic correlation between LQTS susceptibility and other cardiac traits. Furthermore, we tested the aggregate effect of the 68 single nucleotide polymorphisms previously associated with the QT-interval in the general population using a polygenic risk score. Results: Genome-wide association analysis identified 3 loci associated with LQTS at genome-wide statistical significance (P5×10-8) near NOS1AP, KCNQ1, and KLF12, and 1 missense variant in KCNE1(p.Asp85Asn) at the suggestive threshold (P10-6). Heritability analyses showed that ≈15% of variance in overall LQTS susceptibility was attributable to common genetic variation (h2SNP 0.148; standard error 0.019). LQTS susceptibility showed a strong genome-wide genetic correlation with the QT-interval in the general population (rg=0.40; P=3.2×10-3). The polygenic risk score comprising common variants previously associated with the QT-interval in the general population was greater in LQTS c

Published
2020

19. SCN5A mutation type and a genetic risk score associate variably with brugada syndrome phenotype in SCN5A families

Author

Wijeyeratne, Y, Tanck, M, Mizusawa, Y, Batchvarov, V, Barc, J, Crotti, L, Bos, J, Tester, D, Muir, A, Veltmann, C, Ohno, S, Page, S, Galvin, J, Tadros, R, Muggenthaler, M, Raju, H, Denjoy, I, Schott, J, Gourraud, J, Skoric-Milosavljevic, D, Nannenberg, E, Redon, R, Papadakis, M, Kyndt, F, Dagradi, F, Castelletti, S, Torchio, M, Meitinger, T, Lichtner, P, Ishikawa, T, Wilde, A, Takahashi, K, Sharma, S, Roden, D, Borggrefe, M, Mckeown, P, Shimizu, W, Horie, M, Makita, N, Aiba, T, Ackerman, M, Schwartz, P, Probst, V, Bezzina, C, Behr, E, Wijeyeratne Y. D., Tanck M. W., Mizusawa Y., Batchvarov V., Barc J., Crotti L., Bos J. M., Tester D. J., Muir A., Veltmann C., Ohno S., Page S. P., Galvin J., Tadros R., Muggenthaler M., Raju H., Denjoy I., Schott J. -J., Gourraud J. -B., Skoric-Milosavljevic D., Nannenberg E. A., Redon R., Papadakis M., Kyndt F., Dagradi F., Castelletti S., Torchio M., Meitinger T., Lichtner P., Ishikawa T., Wilde A. A. M., Takahashi K., Sharma S., Roden D. M., Borggrefe M. M., McKeown P. P., Shimizu W., Horie M., Makita N., Aiba T., Ackerman M. J., Schwartz P. J., Probst V., Bezzina C. R., Behr E. R., Wijeyeratne, Y, Tanck, M, Mizusawa, Y, Batchvarov, V, Barc, J, Crotti, L, Bos, J, Tester, D, Muir, A, Veltmann, C, Ohno, S, Page, S, Galvin, J, Tadros, R, Muggenthaler, M, Raju, H, Denjoy, I, Schott, J, Gourraud, J, Skoric-Milosavljevic, D, Nannenberg, E, Redon, R, Papadakis, M, Kyndt, F, Dagradi, F, Castelletti, S, Torchio, M, Meitinger, T, Lichtner, P, Ishikawa, T, Wilde, A, Takahashi, K, Sharma, S, Roden, D, Borggrefe, M, Mckeown, P, Shimizu, W, Horie, M, Makita, N, Aiba, T, Ackerman, M, Schwartz, P, Probst, V, Bezzina, C, Behr, E, Wijeyeratne Y. D., Tanck M. W., Mizusawa Y., Batchvarov V., Barc J., Crotti L., Bos J. M., Tester D. J., Muir A., Veltmann C., Ohno S., Page S. P., Galvin J., Tadros R., Muggenthaler M., Raju H., Denjoy I., Schott J. -J., Gourraud J. -B., Skoric-Milosavljevic D., Nannenberg E. A., Redon R., Papadakis M., Kyndt F., Dagradi F., Castelletti S., Torchio M., Meitinger T., Lichtner P., Ishikawa T., Wilde A. A. M., Takahashi K., Sharma S., Roden D. M., Borggrefe M. M., McKeown P. P., Shimizu W., Horie M., Makita N., Aiba T., Ackerman M. J., Schwartz P. J., Probst V., Bezzina C. R., and Behr E. R.

Abstract

Background: Brugada syndrome (BrS) is characterized by the type 1 Brugada ECG pattern. Pathogenic rare variants in SCN5A (mutations) are identified in 20% of BrS families in whom incomplete penetrance and genotype-negative phenotype-positive individuals are observed. E1784K-SCN5A is the most common SCN5A mutation identified. We determined the association of a BrS genetic risk score (BrS-GRS) and SCN5A mutation type on BrS phenotype in BrS families with SCN5A mutations. Methods: Subjects with a spontaneous type 1 pattern or positive/negative drug challenge from cohorts harboring SCN5A mutations were recruited from 16 centers (n=312). Single nucleotide polymorphisms previously associated with BrS at genome-wide significance were studied in both cohorts: rs11708996, rs10428132, and rs9388451. An additive linear genetic model for the BrS-GRS was assumed (6 single nucleotide polymorphism risk alleles). Results: In the total population (n=312), BrS-GRS ≥4 risk alleles yielded an odds ratio of 4.15 for BrS phenotype ([95% CI, 1.45-11.85]; P=0.0078). Among SCN5A-positive individuals (n=258), BrS-GRS ≥4 risk alleles yielded an odds ratio of 2.35 ([95% CI, 0.89-6.22]; P=0.0846). In SCN5A-negative relatives (n=54), BrS-GRS ≥4 alleles yielded an odds ratio of 22.29 ([95% CI, 1.84-269.30]; P=0.0146). Among E1784K-SCN5A positive family members (n=79), hosting ≥4 risk alleles gave an odds ratio=5.12 ([95% CI, 1.93-13.62]; P=0.0011). Conclusions: Common genetic variation is associated with variable expressivity of BrS phenotype in SCN5A families, explaining in part incomplete penetrance and genotype-negative phenotype-positive individuals. SCN5A mutation genotype and a BrS-GRS associate with BrS phenotype, but the strength of association varies according to presence of a SCN5A mutation and severity of loss of function.

Published
2020

20. An International Multicenter Evaluation of Type 5 Long QT Syndrome: A Low Penetrant Primary Arrhythmic Condition

Author

Roberts, J, Asaki, S, Mazzanti, A, Bos, J, Tuleta, I, Muir, A, Crotti, L, Krahn, A, Kutyifa, V, Shoemaker, M, Johnsrude, C, Aiba, T, Marcondes, L, Baban, A, Udupa, S, Dechert, B, Fischbach, P, Knight, L, Vittinghoff, E, Kukavica, D, Stallmeyer, B, Giudicessi, J, Spazzolini, C, Shimamoto, K, Tadros, R, Cadrin-Tourigny, J, Duff, H, Simpson, C, Roston, T, Wijeyeratne, Y, El Hajjaji, I, Yousif, M, Gula, L, Leong-Sit, P, Chavali, N, Landstrom, A, Marcus, G, Dittmann, S, Wilde, A, Behr, E, Tfelt-Hansen, J, Scheinman, M, Perez, M, Kaski, J, Gow, R, Drago, F, Aziz, P, Abrams, D, Gollob, M, Skinner, J, Shimizu, W, Kaufman, E, Roden, D, Zareba, W, Schwartz, P, Schulze-Bahr, E, Etheridge, S, Priori, S, Ackerman, M, Roberts JD, Asaki SY, Mazzanti A, Bos JM, Tuleta I, Muir AR, Crotti L, Krahn AD, Kutyifa V, Shoemaker MB, Johnsrude CL, Aiba T, Marcondes L, Baban A, Udupa S, Dechert B, Fischbach P, Knight LM, Vittinghoff E, Kukavica D, Stallmeyer B, Giudicessi JR, Spazzolini C, Shimamoto K, Tadros R, Cadrin-Tourigny J, Duff HJ, Simpson CS, Roston TM, Wijeyeratne YD, El Hajjaji I, Yousif MD, Gula LJ, Leong-Sit P, Chavali N, Landstrom AP, Marcus GM, Dittmann S, Wilde AAM, Behr ER, Tfelt-Hansen J, Scheinman MM, Perez MV, Kaski JP, Gow RM, Drago F, Aziz PF, Abrams DJ, Gollob MH, Skinner JR, Shimizu W, Kaufman ES, Roden DM, Zareba W, Schwartz PJ, Schulze-Bahr E, Etheridge SP, Priori SG, Ackerman MJ., Roberts, J, Asaki, S, Mazzanti, A, Bos, J, Tuleta, I, Muir, A, Crotti, L, Krahn, A, Kutyifa, V, Shoemaker, M, Johnsrude, C, Aiba, T, Marcondes, L, Baban, A, Udupa, S, Dechert, B, Fischbach, P, Knight, L, Vittinghoff, E, Kukavica, D, Stallmeyer, B, Giudicessi, J, Spazzolini, C, Shimamoto, K, Tadros, R, Cadrin-Tourigny, J, Duff, H, Simpson, C, Roston, T, Wijeyeratne, Y, El Hajjaji, I, Yousif, M, Gula, L, Leong-Sit, P, Chavali, N, Landstrom, A, Marcus, G, Dittmann, S, Wilde, A, Behr, E, Tfelt-Hansen, J, Scheinman, M, Perez, M, Kaski, J, Gow, R, Drago, F, Aziz, P, Abrams, D, Gollob, M, Skinner, J, Shimizu, W, Kaufman, E, Roden, D, Zareba, W, Schwartz, P, Schulze-Bahr, E, Etheridge, S, Priori, S, Ackerman, M, Roberts JD, Asaki SY, Mazzanti A, Bos JM, Tuleta I, Muir AR, Crotti L, Krahn AD, Kutyifa V, Shoemaker MB, Johnsrude CL, Aiba T, Marcondes L, Baban A, Udupa S, Dechert B, Fischbach P, Knight LM, Vittinghoff E, Kukavica D, Stallmeyer B, Giudicessi JR, Spazzolini C, Shimamoto K, Tadros R, Cadrin-Tourigny J, Duff HJ, Simpson CS, Roston TM, Wijeyeratne YD, El Hajjaji I, Yousif MD, Gula LJ, Leong-Sit P, Chavali N, Landstrom AP, Marcus GM, Dittmann S, Wilde AAM, Behr ER, Tfelt-Hansen J, Scheinman MM, Perez MV, Kaski JP, Gow RM, Drago F, Aziz PF, Abrams DJ, Gollob MH, Skinner JR, Shimizu W, Kaufman ES, Roden DM, Zareba W, Schwartz PJ, Schulze-Bahr E, Etheridge SP, Priori SG, and Ackerman MJ.

Abstract

Background: Insight into type 5 long QT syndrome (LQT5) has been limited to case reports and small family series. Improved understanding of the clinical phenotype and genetic features associated with rare KCNE1 variants implicated in LQT5 was sought through an international multicenter collaboration. Methods: Patients with either presumed autosomal dominant LQT5 (N = 229) or the recessive Type 2 Jervell and Lange-Nielsen syndrome (N = 19) were enrolled from 22 genetic arrhythmia clinics and 4 registries from 9 countries. KCNE1 variants were evaluated for ECG penetrance (defined as QTc >460 ms on presenting ECG) and genotype-phenotype segregation. Multivariable Cox regression was used to compare the associations between clinical and genetic variables with a composite primary outcome of definite arrhythmic events, including appropriate implantable cardioverter-defibrillator shocks, aborted cardiac arrest, and sudden cardiac death. Results: A total of 32 distinct KCNE1 rare variants were identified in 89 probands and 140 genotype positive family members with presumed LQT5 and an additional 19 Type 2 Jervell and Lange-Nielsen syndrome patients. Among presumed LQT5 patients, the mean QTc on presenting ECG was significantly longer in probands (476.9±38.6 ms) compared with genotype positive family members (441.8±30.9 ms, P<0.001). ECG penetrance for heterozygous genotype positive family members was 20.7% (29/140). A definite arrhythmic event was experienced in 16.9% (15/89) of heterozygous probands in comparison with 1.4% (2/140) of family members (adjusted hazard ratio [HR] 11.6 [95% CI, 2.6-52.2]; P=0.001). Event incidence did not differ significantly for Type 2 Jervell and Lange-Nielsen syndrome patients relative to the overall heterozygous cohort (10.5% [2/19]; HR 1.7 [95% CI, 0.3-10.8], P=0.590). The cumulative prevalence of the 32 KCNE1 variants in the Genome Aggregation Database, which is a human database of exome and genome sequencing data from now over 140 0

Published
2020

21. European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases

Author

M Wilde, A, Semsarian, C, F Márquez, M, Sepehri Shamloo, A, J Ackerman, M, A Ashley, E, Sternick Eduardo, B, Barajas-Martinez, H, R Behr, E, R Bezzina, C, Breckpot, J, Charron, P, Chockalingam, P, Crotti, L, H Gollob, M, Lubitz, S, Makita, N, Ohno, S, Ortiz-Genga, M, Sacilotto, L, Schulze-Bahr, E, Shimizu, W, Sotoodehnia, N, Tadros, R, S Ware, J, S Winlaw, D, S Kaufman, E, Aiba, T, Bollmann, A, Choi, J, Dalal, A, Darrieux, F, Giudicessi, J, Guerchicoff, M, Hong, K, D Krahn, A, Mac Intyre, C, A Mackall, J, Mont, L, Napolitano, C, Ochoa Juan, P, Peichl, P, C Pereira, A, J Schwartz, P, Skinner, J, Stellbrink, C, Tfelt-Hansen, J, Deneke, T, Arthur A M Wilde, Christopher Semsarian, Manlio F Márquez, Alireza Sepehri Shamloo, Michael J Ackerman, Euan A Ashley, Back Sternick Eduardo, Héctor Barajas-Martinez, Elijah R Behr, Connie R Bezzina, Jeroen Breckpot, Philippe Charron, Priya Chockalingam, Lia Crotti, Michael H Gollob, Steven Lubitz, Naomasa Makita, Seiko Ohno, Martín Ortiz-Genga, Luciana Sacilotto, Eric Schulze-Bahr, Wataru Shimizu, Nona Sotoodehnia, Rafik Tadros, James S Ware, David S Winlaw, Elizabeth S Kaufman, Takeshi Aiba, Andreas Bollmann, Jong-Il Choi, Aarti Dalal, Francisco Darrieux, John Giudicessi, Mariana Guerchicoff, Kui Hong, Andrew D Krahn, Ciorsti Mac Intyre, Judith A Mackall, Lluís Mont, Carlo Napolitano, Pablo Ochoa Juan, Petr Peichl, Alexandre C Pereira, Peter J Schwartz, Jon Skinner, Christoph Stellbrink, Jacob Tfelt-Hansen, Thomas Deneke, M Wilde, A, Semsarian, C, F Márquez, M, Sepehri Shamloo, A, J Ackerman, M, A Ashley, E, Sternick Eduardo, B, Barajas-Martinez, H, R Behr, E, R Bezzina, C, Breckpot, J, Charron, P, Chockalingam, P, Crotti, L, H Gollob, M, Lubitz, S, Makita, N, Ohno, S, Ortiz-Genga, M, Sacilotto, L, Schulze-Bahr, E, Shimizu, W, Sotoodehnia, N, Tadros, R, S Ware, J, S Winlaw, D, S Kaufman, E, Aiba, T, Bollmann, A, Choi, J, Dalal, A, Darrieux, F, Giudicessi, J, Guerchicoff, M, Hong, K, D Krahn, A, Mac Intyre, C, A Mackall, J, Mont, L, Napolitano, C, Ochoa Juan, P, Peichl, P, C Pereira, A, J Schwartz, P, Skinner, J, Stellbrink, C, Tfelt-Hansen, J, Deneke, T, Arthur A M Wilde, Christopher Semsarian, Manlio F Márquez, Alireza Sepehri Shamloo, Michael J Ackerman, Euan A Ashley, Back Sternick Eduardo, Héctor Barajas-Martinez, Elijah R Behr, Connie R Bezzina, Jeroen Breckpot, Philippe Charron, Priya Chockalingam, Lia Crotti, Michael H Gollob, Steven Lubitz, Naomasa Makita, Seiko Ohno, Martín Ortiz-Genga, Luciana Sacilotto, Eric Schulze-Bahr, Wataru Shimizu, Nona Sotoodehnia, Rafik Tadros, James S Ware, David S Winlaw, Elizabeth S Kaufman, Takeshi Aiba, Andreas Bollmann, Jong-Il Choi, Aarti Dalal, Francisco Darrieux, John Giudicessi, Mariana Guerchicoff, Kui Hong, Andrew D Krahn, Ciorsti Mac Intyre, Judith A Mackall, Lluís Mont, Carlo Napolitano, Pablo Ochoa Juan, Petr Peichl, Alexandre C Pereira, Peter J Schwartz, Jon Skinner, Christoph Stellbrink, Jacob Tfelt-Hansen, and Thomas Deneke

Published
2022

22. Rivaroxaban Monotherapy in Patients With Atrial Fibrillation After Coronary Stenting

Author

Matoba, Tetsuya, primary, Yasuda, Satoshi, additional, Kaikita, Koichi, additional, Akao, Masaharu, additional, Ako, Junya, additional, Nakamura, Masato, additional, Miyauchi, Katsumi, additional, Hagiwara, Nobuhisa, additional, Kimura, Kazuo, additional, Hirayama, Atsushi, additional, Matsui, Kunihiko, additional, Ogawa, Hisao, additional, Matoba, Tetsuya, additional, Koretsune, Yukihiro, additional, Hiro, Takafumi, additional, Sumiyoshi, Tetsuya, additional, Kimura, Kazumi, additional, Hashimoto, Yoichiro, additional, Hirano, Teruyuki, additional, Daida, Hiroyuki, additional, Okada, Yasushi, additional, Yamazaki, Tsutomu, additional, Nakamura, A., additional, Tamiya, E., additional, Yamamoto, T., additional, Suetake, S., additional, Noguchi, T., additional, Nakamura, S., additional, Matsumura, A., additional, Kojima, J., additional, Suwa, S., additional, Yamaguchi, H., additional, Kaikita, K., additional, Yasu, T., additional, Nakajima, A., additional, Yamada, T., additional, Arai, H., additional, Hata, Y., additional, Sakanashi, T., additional, Tateishi, H., additional, Nakayama, T., additional, Nozaki, Y., additional, Akao, M., additional, Okumura, Y., additional, Tokue, M., additional, Kuroki, N., additional, Maruyama, Y., additional, Matoba, T., additional, Hagiwara, N., additional, Suzuki, H., additional, Nishida, Y., additional, Ajioka, M., additional, Yumoto, K., additional, Shimizu, S., additional, Aoyama, T., additional, Shimomura, H., additional, Takeda, T., additional, Oshiro, K., additional, Sugishita, N., additional, Shibata, Y., additional, Otonari, T., additional, Kihara, H., additional, Ogawa, H., additional, Ohno, A., additional, Hazama, M., additional, Shimizu, M., additional, Tsukahara, K., additional, Haruta, S., additional, Wakeyama, T., additional, Haruna, T., additional, Ito, M., additional, Fujii, K., additional, Atsuchi, N., additional, Sata, M., additional, Kimura, K., additional, Hasebe, N., additional, Kobayasi, Y., additional, Ohsato, K., additional, Hironaga, K., additional, Naganuma, Y., additional, Anzaki, K., additional, Oiwa, K., additional, Okazaki, S., additional, Nakagawa, Y., additional, Tokuhiro, K., additional, Tanaka, K., additional, Momose, T., additional, Fukushima, Y., additional, Kametani, R., additional, Kawamitsu, K., additional, Saito, Y., additional, Akashi, S., additional, Kumagai, K., additional, Eshima, K., additional, Tobaru, T., additional, Seo, T., additional, Okuhara, K., additional, Kozuma, K., additional, Ikari, Y., additional, Takahashi, T., additional, Michishita, I., additional, Fujikura, H., additional, Momomura, S., additional, Yamamoto, Y., additional, Otomo, K., additional, Matsubara, T., additional, Tashiro, H., additional, Inoue, T., additional, Ishihara, M., additional, Shiojima, I., additional, Tachibana, E., additional, Ako, J., additional, Sumii, K., additional, Yamamoto, N., additional, Ohmura, N., additional, Nakamura, T., additional, Morita, Y., additional, Takahashi, N., additional, Watanabe, K., additional, Fujinaga, H., additional, Maruyama, M., additional, Oka, T., additional, Shirayama, T., additional, Amano, T., additional, Fukui, K., additional, Ando, K., additional, Oshima, S., additional, Kagiyama, S., additional, Teragawa, H., additional, Yuge, M., additional, Ono, S., additional, Koga, T., additional, Fujiu, K., additional, Kuwabara, M., additional, Ohya, Y., additional, Yumoto, Y., additional, Kuji, N., additional, Ikemura, M., additional, Kario, K., additional, Chatani, K., additional, Sato, K., additional, Miyagi, H., additional, Murakami, M., additional, Saito, K., additional, Hoshiga, M., additional, Sato, S., additional, Kubo, N., additional, Sakamoto, Y., additional, Ashida, K., additional, Sakamoto, H., additional, Murasaki, S., additional, Uehara, H., additional, Akasaka, T., additional, Ooba, Y., additional, Nakahara, S., additional, Hanaoka, Y., additional, Nishimiya, T., additional, Tsunoda, R., additional, Onuma, Y., additional, Higuchi, S., additional, Tani, A., additional, Wada, A., additional, Kato, M., additional, Obata, H., additional, Higuchi, Y., additional, Endo, T., additional, Katou, R., additional, Matsunaga, T., additional, Matsuoka, T., additional, Noguchi, H., additional, Usui, M., additional, Hayashi, T., additional, Otsuji, Y., additional, Osaki, T., additional, Zaizen, H., additional, Yoshihara, H., additional, Kadota, K., additional, Hirose, T., additional, Miyazawa, T., additional, Mori, A., additional, Takano, M., additional, Shimizu, W., additional, Wake, M., additional, Oriso, S., additional, Yoshiyama, M., additional, Kakinoki, S., additional, Nishioka, T., additional, Ozaki, T., additional, Nomoto, K., additional, Seki, K., additional, Kawai, K., additional, Ozaki, Y., additional, Miura, S., additional, Kawasaki, M., additional, Funada, R., additional, Dote, K., additional, Nagano, T., additional, Okamoto, S., additional, Kubo, T., additional, Murozono, Y., additional, Owada, T., additional, Doke, T., additional, Matsumura, T., additional, Horiuchi, M., additional, Takaishi, A., additional, Yamamoto, M., additional, Nakashima, H., additional, Munemasa, M., additional, Sakata, Y., additional, Inoue, N., additional, Ota, T., additional, Hamano, Y., additional, Abe, N., additional, Tsubokura, T., additional, Goto, M., additional, Kubota, I., additional, Yano, M., additional, Umetani, K., additional, Date, T., additional, Morimoto, H., additional, Noda, T., additional, Goto, S., additional, Hibi, K., additional, Nakano, A., additional, Hiramitsu, S., additional, Kihara, Y., additional, Sugi, M., additional, Shiba, N., additional, Izumi, D., additional, Sato, T., additional, Tayama, S., additional, Matsui, T., additional, Suzuki, A., additional, Ajiki, K., additional, Oishi, M., additional, Kiryu, M., additional, Ko, T., additional, Ando, H., additional, Miyazaki, S., additional, Kinugawa, T., additional, Otake, H., additional, Kitaoka, H., additional, Hirata, Y., additional, Honda, S., additional, Manita, M., additional, Ishii, Y., additional, Oka, H., additional, Nanba, Y., additional, Nishino, M., additional, Sakamoto, T., additional, Saito, T., additional, Sakai, H., additional, Ichikawa, M., additional, Namiuchi, S., additional, Inoue, K., additional, Komiyama, N., additional, Akashi, Y., additional, Nakamura, Y., additional, Komaru, T., additional, Hosokawa, T., additional, Chikamori, T., additional, Tanaka, H., additional, Arasaki, O., additional, Aonuma, K., additional, Wakasa, Y., additional, Yoshizawa, T., additional, Sugano, T., additional, Yokota, N., additional, Kakutani, A., additional, Suzuki, T., additional, Abe, Y., additional, Kataoka, T., additional, Okayama, H., additional, Yokoi, H., additional, Chin, K., additional, Hasegawa, K., additional, Tomita, H., additional, Honzyo, H., additional, Kawai, H., additional, Yamamoto, K., additional, Morino, Y., additional, Tsujiyama, S., additional, Hamasaki, S., additional, Niijima, Y., additional, Mizuno, Y., additional, Maki, A., additional, Tanabe, K., additional, Murohara, T., additional, Naomi, S., additional, Arikawa, M., additional, Kato, T., additional, Matsumoto, N., additional, Minamino, T., additional, Sairenji, H., additional, Miyamoto, N., additional, Ito, H., additional, Matsuura, Y., additional, Hata, S., additional, Nakatsu, Y., additional, Onodera, T., additional, Yoshimura, M., additional, Amano, H., additional, Tokutake, E., additional, Kasao, M., additional, Moriguchi, M., additional, Tsuji, M., additional, Yamamoto, H., additional, Yanbe, Y., additional, Iwasawa, T., additional, Suzuki, M., additional, and Mori, H., additional

Published
2021
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25. Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls

Author

Walsh R, Lahrouchi N, Tadros R, Kyndt F, Glinge C, Postema PG, Amin AS, Nannenberg EA, Ware JS, Whiffin N, Mazzarotto F, Škoric-Milosavljevic D, Krijger C, Arbelo E, Babuty D, Barajas-Martinez H, Beckmann BM, Bézieau S, Bos JM, Breckpot J, Campuzano O, Castelletti S, Celen C, Clauss S, Corveleyn A, Crotti L, Dagradi F, de Asmundis C, Denjoy I, Dittmann S, Ellinor PT, Ortuño CG, Giustetto C, Gourraud JB, Hazeki D, Horie M, Ishikawa T, Itoh H, Kaneko Y, Kanters JK, Kimoto H, Kotta MC, Krapels IPC, Kurabayashi M, Lazarte J, Leenhardt A, Loeys BL, Lundin C, Makiyama T, Mansourati J, Martins RP, Mazzanti A, Mörner S, Napolitano C, Ohkubo K, Papadakis M, Rudic B, Molina MS, Sacher F, Sahin H, Sarquella-Brugada G, Sebastiano R, Sharma S, Sheppard MN, Shimamoto K, Shoemaker MB, Stallmeyer B, Steinfurt J, Tanaka Y, Tester DJ, Usuda K, van der Zwaag PA, Van Dooren S, Van Laer L, Winbo A, Winkel BG, Yamagata K, Zumhagen S, Volders PGA, Lubitz SA, Antzelevitch C, Platonov PG, Odening KE, Roden DM, Roberts JD, Skinner JR, Tfelt-Hansen J, van den Berg MP, Olesen MS, Lambiase PD, Borggrefe M, Hayashi K, Rydberg A, Nakajima T, Yoshinaga M, Saenen JB, Kääb S, Brugada P, Robyns T, Giachino DF, Ackerman MJ, Brugada R, Brugada-Terradellas J, Gimeno JR, Hasdemir C, Guicheney P, Priori SG, Schulze-Bahr E, Makita N, Schwartz PJ, Shimizu W, Aiba T, Schott JJ, Redon R, Ohno S, Probst V, Behr ER, Barc J, Bezzina CR, and Nantes Referral Center for inherited cardiac arrhythmia

Subjects
congenital, hereditary, and neonatal diseases and abnormalities, LQTS, variant interpretation, cardiovascular diseases, Brugada, ACMG/AMP guidelines
Abstract

PURPOSE: Stringent variant interpretation guidelines can lead to high rates of variants of uncertain significance (VUS) for genetically heterogeneous disease like long QT syndrome (LQTS) and Brugada syndrome (BrS). Quantitative and disease-specific customization of American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines can address this false negative rate. METHODS: We compared rare variant frequencies from 1847 LQTS (KCNQ1/KCNH2/SCN5A) and 3335 BrS (SCN5A) cases from the International LQTS/BrS Genetics Consortia to population-specific gnomAD data and developed disease-specific criteria for ACMG/AMP evidence classes-rarity (PM2/BS1 rules) and case enrichment of individual (PS4) and domain-specific (PM1) variants. RESULTS: Rare SCN5A variant prevalence differed between European (20.8%) and Japanese (8.9%) BrS patients (p = 5.7 × 10(-18)) and diagnosis with spontaneous (28.7%) versus induced (15.8%) Brugada type 1 electrocardiogram (ECG) (p = 1.3 × 10(-13)). Ion channel transmembrane regions and specific N-terminus (KCNH2) and C-terminus (KCNQ1/KCNH2) domains were characterized by high enrichment of case variants and >95% probability of pathogenicity. Applying the customized rules, 17.4% of European BrS and 74.8% of European LQTS cases had (likely) pathogenic variants, compared with estimated diagnostic yields (case excess over gnomAD) of 19.2%/82.1%, reducing VUS prevalence to close to background rare variant frequency. CONCLUSION: Large case-control data sets enable quantitative implementation of ACMG/AMP guidelines and increased sensitivity for inherited arrhythmia genetic testing.

Published
2021

26. 2020 APHRS/HRS Expert Consensus Statement on the Investigation of Decedents with Sudden Unexplained Death and Patients with Sudden Cardiac Arrest, and of Their Families

Author

Stiles, MK, Wilde, AAM, Abrams, DJ, Ackerman, MJ, Albert, CM, Behr, ER, Chugh, SS, Cornel, MC, Gardner, K, Grad, JI, James, CA, Jimmy Juang, J-M, Kääb, S, Kaufman, ES, Krahn, AD, Lubitz, SA, MacLeod, H, Morillo, CA, Nademanee, K, Probst, V, Saarel, EV, Sacilotto, L, Semsarian, C, Sheppard, MN, Shimizu, W, Skinner, JR, Tfelt-Hansen, J, Wang, DW, and Document Reviewers

Abstract

This international multidisciplinary document intends to provide clinicians with evidence-based practical patient-centered recommendations for evaluating patients and decedents with (aborted) sudden cardiac arrest and their families. The document includes a framework for the investigation of the family allowing steps to be taken, should an inherited condition be found, to minimize further events in affected relatives. Integral to the process is counseling of the patients and families, not only because of the emotionally charged subject, but because finding (or not finding) the cause of the arrest may influence management of family members. The formation of multidisciplinary teams is essential to provide a complete service to the patients and their families, and the varied expertise of the writing committee was formulated to reflect this need. The document sections were divided up and drafted by the writing committee members according to their expertise. The recommendations represent the consensus opinion of the entire writing committee, graded by Class of Recommendation and Level of Evidence. The recommendations were opened for public comment and reviewed by the relevant scientific and clinical document committees of the Asia Pacific Heart Rhythm Society (APHRS) and the Heart Rhythm Society (HRS); the document underwent external review and endorsement by the partner and collaborating societies. While the recommendations are for optimal care, it is recognized that not all resources will be available to all clinicians. Nevertheless, this document articulates the evaluation that the clinician should aspire to provide for patients with sudden cardiac arrest, decedents with sudden unexplained death, and their families.

Published
2021

32. Honedra® (CLBS12) autologous CD34+ cells improve outcomes in patients with Buerger’s disease

Author

Kawamoto, A., primary, Furukawa, Y., additional, Fujita, Y., additional, Kobayashi, S., additional, Tobita, K., additional, Yamaguchi, J., additional, Shimizu, W., additional, Takagi, G., additional, Matsumura, H., additional, Murata, N., additional, Nakamura, M., additional, Kitano, I., additional, Yokoi, H., additional, Azuma, N., additional, Kozuki, A., additional, Obara, H., additional, Furukawa, M., additional, Sietsema, W.K., additional, Takagi, H., additional, Wang, J., additional, Bartel, R., additional, and Losordo, D.W., additional

Published
2021
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33. Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome .

Author

Lahrouchi, N., Tadros, R., Crotti, L., Mizusawa, Y., Postema, P.G., Beekman, L., Walsh, R., Hasegawa, K., Barc, J., Ernsting, M., Turkowski, K.L., Mazzanti, A., Beckmann, B.M., Shimamoto, K., Diamant, U.B., Wijeyeratne, Y.D., Kucho, Y., Robyns, T., Ishikawa, T., Arbelo, E., Christiansen, M., Winbo, A., Jabbari, R., Lubitz, S.A., Steinfurt, J., Rudic, B., Loeys, B., Shoemaker, M.B., Weeke, P.E., Pfeiffer, R., Davies, B., Andorin, A., Hofman, N., Dagradi, F., Pedrazzini, M., Tester, D.J., Bos, J.M, Sarquella-Brugada, G., Campuzano, Ó., Platonov, P.G., Stallmeyer, B., Zumhagen, S., Nannenberg, E.A., Veldink, J.H., Berg, L.H. van den, Al-Chalabi, A., Shaw, C.E., Shaw, P.J., Morrison, K.E., Andersen, P.M., Müller-Nurasyid, M., Cusi, D., Barlassina, C., Galan, P., Lathrop, M., Munter, M., Werge, T., Ribasés, M., Aung, T., Khor, C.C., Ozaki, M., Lichtner, P., Meitinger, T., Tintelen, J.P. van, Hoedemaekers, Y.M., Denjoy, I., Leenhardt, A., Napolitano, C., Shimizu, W., Schott, J.J., Gourraud, J.B., Makiyama, T., Ohno, S., Itoh, H., Krahn, A.D., Antzelevitch, C., Roden, D.M., Saenen, J., Borggrefe, M., Odening, K.E., Ellinor, P.T., Tfelt-Hansen, J., Skinner, J.R., Berg, M.P., Olesen, M.S., Brugada, J., Brugada, R., Makita, N., Breckpot, J., Yoshinaga, M., Behr, E.R., Rydberg, A., Aiba, T., Kääb, S., Priori, S.G., Guicheney, P., Tan, H.L., Newton-Cheh, C., Ackerman, M.J., Schwartz, P.J., Lahrouchi, N., Tadros, R., Crotti, L., Mizusawa, Y., Postema, P.G., Beekman, L., Walsh, R., Hasegawa, K., Barc, J., Ernsting, M., Turkowski, K.L., Mazzanti, A., Beckmann, B.M., Shimamoto, K., Diamant, U.B., Wijeyeratne, Y.D., Kucho, Y., Robyns, T., Ishikawa, T., Arbelo, E., Christiansen, M., Winbo, A., Jabbari, R., Lubitz, S.A., Steinfurt, J., Rudic, B., Loeys, B., Shoemaker, M.B., Weeke, P.E., Pfeiffer, R., Davies, B., Andorin, A., Hofman, N., Dagradi, F., Pedrazzini, M., Tester, D.J., Bos, J.M, Sarquella-Brugada, G., Campuzano, Ó., Platonov, P.G., Stallmeyer, B., Zumhagen, S., Nannenberg, E.A., Veldink, J.H., Berg, L.H. van den, Al-Chalabi, A., Shaw, C.E., Shaw, P.J., Morrison, K.E., Andersen, P.M., Müller-Nurasyid, M., Cusi, D., Barlassina, C., Galan, P., Lathrop, M., Munter, M., Werge, T., Ribasés, M., Aung, T., Khor, C.C., Ozaki, M., Lichtner, P., Meitinger, T., Tintelen, J.P. van, Hoedemaekers, Y.M., Denjoy, I., Leenhardt, A., Napolitano, C., Shimizu, W., Schott, J.J., Gourraud, J.B., Makiyama, T., Ohno, S., Itoh, H., Krahn, A.D., Antzelevitch, C., Roden, D.M., Saenen, J., Borggrefe, M., Odening, K.E., Ellinor, P.T., Tfelt-Hansen, J., Skinner, J.R., Berg, M.P., Olesen, M.S., Brugada, J., Brugada, R., Makita, N., Breckpot, J., Yoshinaga, M., Behr, E.R., Rydberg, A., Aiba, T., Kääb, S., Priori, S.G., Guicheney, P., Tan, H.L., Newton-Cheh, C., Ackerman, M.J., and Schwartz, P.J.

Abstract

Contains fulltext : 230155.pdf (Publisher’s version ) (Open Access)

Published
2020

34. Amiodarone-induced pneumonitis

Author

Matsuura, H, primary, Kiura, Y, additional, Shimizu, W, additional, Suganami, Y, additional, Sasaki, E, additional, Kawamura, K, additional, and Kishida, M, additional

Published
2021
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37. Baseline clinical features in a large-scale registration survey of patient with hypertrophic cardiomyopathy throughout Japan: J-HCM registry study

Author

Kubo, T, primary, Takano, H, additional, Takayama, M, additional, Doi, Y.L, additional, Minami, Y, additional, Ebato, M, additional, Inomata, T, additional, Katoh, T, additional, Okamoto, R, additional, Chikamori, T, additional, Watanabe, E, additional, Furugen, A, additional, Maekwa, Y, additional, Shimizu, W, additional, and Kitaoka, H, additional

Published
2020
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38. Systematic Evaluation of KCNQ1 variant using ACMG/AMP Guidelines and Risk Stratification in Long QT Syndrome Type 1

Author

Kashiwa, A, primary, Aiba, T, additional, Makimoto, H, additional, Yagihara, N, additional, Ohno, S, additional, Makiyama, T, additional, Hayashi, K, additional, Itoh, H, additional, Sumitomo, N, additional, Yoshinaga, M, additional, Morita, H, additional, Makita, N, additional, Kusano, K, additional, Horie, M, additional, and Shimizu, W, additional

Published
2020
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39. Molecular mechanism of a new cardiac syndrome associated with a regulatory element deletion of chromosome 4q25

Author

Baudic, M, primary, Murata, H, additional, Le Scouarnec, S, additional, Foucal, A, additional, Lindenbaum, P, additional, Ishikawa, T, additional, Si-Tayeb, K, additional, Gaborit, N, additional, Makita, N, additional, Makiyama, T, additional, Shimizu, W, additional, Vieyres, C, additional, Probst, V, additional, Schott, J.J, additional, and Barc, J, additional

Published
2020
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40. Effect of empagliflozin versus placebo on body composition in patients with acute myocardial infarction and type 2 diabetes mellitus: subgroup analysis of the EMBODY trial

Author

Hoshika, Y, primary, Kubota, Y, additional, Mozawa, K, additional, Yodogawa, K, additional, Iwasaki, Y, additional, Yamamoto, T, additional, Takano, H, additional, Tsukada, Y, additional, Asai, K, additional, Miyauchi, Y, additional, Kodani, E, additional, Maruyama, M, additional, Tanabe, J, additional, and Shimizu, W, additional

Published
2020
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44. P2864A novel mechanism of sinus node dysfunction: intergenic deletion between PITX2 and ANK2 disrupts chromatin structure in pacemaker cell differentiation

Author

Murata, H, primary, Lindenbaum, P, additional, Le Scouarnec, S, additional, Baron, E, additional, Rajalu, A, additional, Kyndt, F, additional, Deleuze, J F, additional, Le Marec, H, additional, Probst, V, additional, Shimizu, W, additional, Redon, R, additional, and Schott, J J, additional

Published
2019
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45. P5502Comparison of clinical characteristics and prognosis between non-octogenarians and octogenarians with cardiac troponin positive acute myocardial infarction

Author

Soeda, T, primary, Ishihara, M, additional, Fujino, F, additional, Ogawa, H, additional, Nakao, K, additional, Yasuda, S, additional, Noguchi, T, additional, Ozaki, Y, additional, Suwa, S, additional, Fujimoto, K, additional, Nakama, Y, additional, Morita, T, additional, Shimizu, W, additional, Hirohata, A, additional, and Saito, Y, additional

Published
2019
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46. P1032Efficacy and safety of radiofrequency catheter ablation for atrial fibrillation in patients undergoing hemodaialysis

Author

Hachisuka, M, primary, Hayashi, H, additional, Mimuro, R, additional, Maru, Y, additional, Fujimoto, Y, additional, Oka, E, additional, Hagiwara, K, additional, Tsuboi, I, additional, Yamamoto, T, additional, Yodogawa, K, additional, Iwasaki, Y, additional, Ogano, M, additional, Hayashi, M, additional, and Shimizu, W, additional

Published
2019
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47. P3406Validation of atherothrombotic risk score for secondary prevention in patients with acute myocardial infarction: the J-MINUET study

Author

Hashimoto, T, primary, Ako, J, additional, Nakao, K, additional, Ozaki, Y, additional, Kimura, K, additional, Noguchi, T, additional, Suwa, S, additional, Fujimoto, K, additional, Nakama, Y, additional, Morita, T, additional, Shimizu, W, additional, Saito, Y, additional, Hirohata, A, additional, Ogawa, H, additional, and Ishihara, M, additional

Published
2019
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50. P889Clinical significance of four-dimensional flow magnetic resonance imaging measurement of turbulent kinetic energy for hypertrophic obstructive cardiomyopathy

Author

Matsuda, J, primary, Takano, H, additional, Sekine, T, additional, Sangen, H, additional, Kubota, Y, additional, Imori, Y, additional, Nakata, J, additional, Saiki, Y, additional, Miyachi, H, additional, Tara, S, additional, Hosokawa, Y, additional, Tokita, Y, additional, Yamamoto, T, additional, Kumita, S, additional, and Shimizu, W, additional

Published
2019
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