Diagnosis and Management of Hypertrophic Cardiomyopathy

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Judge, D. P., Alexander, K. M., Cappelli, F., Fontana, M., Garcia-Pavia, P., Gibbs, S. D. J., Grogan, M., Hanna, M., Masri, A., Maurer, M. S., Obici, L., Soman, P., Cao, X., Lystig, T., Tamby, J.-F., Siddhanti, S., Castaño, A., Katz, L., Fox, J. C., … Gillmore, J. D. (2025). Efficacy of Acoramidis on All-Cause Mortality and Cardiovascular Hospitalization in Transthyretin Amyloid Cardiomyopathy. Journal of the American College of Cardiology, 85(10), 1003–1014. https://doi.org/10.1016/j.jacc.2024.11.042
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Merello Oyarzún, G., Olivares-Costa, M., Basile, L., Pástor, T. P., Mendoza-Soto, P., Padilla-Santiago, L., Mardones, G. A., Binda, C., & Opazo, J. C. (2025). Evolutionary and Functional Analysis of Monoamine Oxidase F (MAO F): A Novel Member of the MAO Gene Family. Genome Biology and Evolution. https://doi.org/10.1093/gbe/evae280
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Akita, K., Kusunose, K., Haga, A., Shimomura, T., Kosaka, Y., Ishiyama, K., Hasegawa, K., Fifer, M. A., Maurer, M. S., & Shimada, Y. J. (2024). Deep learning of echocardiography distinguishes between presence and absence of late gadolinium enhancement on cardiac magnetic resonance in patients with hypertrophic cardiomyopathy. Echo Research & Practice, 11(1). https://doi.org/10.1186/s44156-024-00059-8
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Coratti, G., Civitello, M., Rohwer, A., Albamonte, E., Montes, J., Glanzman, A. M., Pasternak, A., De Sanctis, R., Young, S. D., Duong, T., Mizzoni, I., Milev, E., Sframeli, M., Morando, S., D’Amico, A., Catteruccia, M., Brolatti, N., Pane, M., Scoto, M., … Mercuri, E. (2024). Upper limb function changes over 12 months in untreated SMA II and III individuals: an item-level analysis using the Revised Upper Limb Module. Neuromuscular Disorders, 104449. https://doi.org/10.1016/j.nmd.2024.08.006
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Jiang, N., Xu, W., Abdelhakim, A., Matveyenko, A., Szabolcs, M., Copeland, W. C., Disco, M., Iglesias, A., Lee, T. M., Naini, A., & Ganapathi, M. (2024). Biallelic potential disease-causing missense variants in TAF1A in two siblings with infantile restrictive cardiomyopathy. European Journal of Medical Genetics, 71, 104968. https://doi.org/10.1016/j.ejmg.2024.104968
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Godown, J., Kim, E. H., Everitt, M. D., Chung, W. K., Lytrivi, I. D., Kirmani, S., Kantor, P. F., Ware, S. M., Ballweg, J. A., Lal, A. K., Bansal, N., Towbin, J., Lipshultz, S. E., & Lee, T. M. (2024). Genetic Testing Resources and Practice Patterns Among Pediatric Cardiomyopathy Programs. Pediatric Cardiology. https://doi.org/10.1007/s00246-024-03498-6
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Yasuda, R., Osawa, I., Goto, T., Hasegawa, K., Fifer, M. A., Tower-Rader, A., Reilly, M. P., Maurer, M. S., Zhao, Y., Takayama, H., & Shimada, Y. J. (2024). Mortality After Alcohol Septal Ablation vs. Septal Myectomy in Patients With Obstructive Hypertrophic Cardiomyopathy. Circulation Reports, 6(3), 74–79. https://doi.org/10.1253/circrep.cr-23-0101
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Hayashi, H., Singh, S. K., Hahn, R. T., Akita, K., Kurlansky, P., Sun, J., Vedula, V., Leb, J. S., Shimada, Y. J., Weiner, S. D., & Takayama, H. (2024). Mitral regurgitation mechanisms related to systolic anterior motion in hypertrophic cardiomyopathy. Journal of Thoracic Disease, 16(1), 26–39. https://doi.org/10.21037/jtd-23-1206
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Nguyen, S. N., Chung, M. M., Vinogradsky, A. V., Richmond, M. E., Zuckerman, W. A., Goldstone, A. B., & Bacha, E. A. (2023). Long-term outcomes of surgery for obstructive hypertrophic cardiomyopathy in a pediatric cohort. JTCVS Open, 16, 726–738. https://doi.org/10.1016/j.xjon.2023.09.032
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Goldman, J. S., Uhlmann, W. R., Naini, A. B., Klitzman, R. L., & Marder, K. S. (2023). Genetic Testing of HTT Modifiers for Huntington’s Disease: Considerations for Clinical Guidelines. Movement Disorders, 38(12), 2151–2154. Portico. https://doi.org/10.1002/mds.29650
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Adrichem, R., Bouwmeester, S., Abdelkarim, O., Vogel, B., Blusztein, D. I., Veulemans, V., Kuneman, J. H., Geleijnse, M., Bax, J. J., Bertrand, P. B., Kodali, S. K., Mehran, R., Little, S. H., Houthuizen, P., & Van Mieghem, N. M. (2023). Dobutamine stress echocardiography remains indispensable for the diagnosis of low-flow low-gradient severe aortic stenosis. European Heart Journal, 44(Supplement_2). https://doi.org/10.1093/eurheartj/ehad655.1654
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Akita, K., Hasegawa, K., Maurer, M. S., Tower-Rader, A., Fifer, M. A., Topkara, V. K., Reilly, M. P., & Shimada, Y. J. (2023). Prediction of acute heart failure events in patients with hypertrophic cardiomyopathy using RNA-Sequencing of plasma small non-coding RNAs. European Heart Journal, 44(Supplement_2). https://doi.org/10.1093/eurheartj/ehad655.1840
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Allen, N. M., O’Rahelly, M., Eymard, B., Chouchane, M., Hahn, A., Kearns, G., Kim, D.-S., Byun, S. Y., Nguyen, C.-T. E., Schara-Schmidt, U., Kölbel, H., Marina, A. D., Schneider-Gold, C., Roefke, K., Thieme, A., Van den Bergh, P., Avalos, G., Álvarez-Velasco, R., Natera-de Benito, D., … Jungbluth, H. (2023). The emerging spectrum of fetal acetylcholine receptor antibody-related disorders (FARAD). Brain, 146(10), 4233–4246. https://doi.org/10.1093/brain/awad153
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Tavakoli, N. P., Gruber, D., Armstrong, N., Chung, W. K., Maloney, B., Park, S., Wynn, J., Koval‐Burt, C., Verdade, L., Tegay, D. H., Cohen, L. L., Shapiro, N., Kennedy, A., Noritz, G., Ciafaloni, E., Weinberger, B., Ellington, M., Schleien, C., … Spinazzola, R. (2023). Newborn screening for Duchenne muscular dystrophy: A two‐year pilot study. Annals of Clinical and Translational Neurology, 10(8), 1383–1396. Portico. https://doi.org/10.1002/acn3.51829
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Wang, B. Z., Nash, T. R., Zhang, X., Rao, J., Abriola, L., Kim, Y., Zakharov, S., Kim, M., Luo, L. J., Morsink, M., Liu, B., Lock, R. I., Fleischer, S., Tamargo, M. A., Bohnen, M., Welch, C. L., Chung, W. K., Marx, S. O., Surovtseva, Y. V., … Fine, B. M. (2023). Engineered cardiac tissue model of restrictive cardiomyopathy for drug discovery. Cell Reports Medicine, 4(3), 100976. https://doi.org/10.1016/j.xcrm.2023.100976
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Hussey, J. W., DeMarco, E., DiSilvestre, D., Jensen, H. H., Ben-Johny, M., Nyegaard, M., Overgaard, M. T., & Dick, I. E. (2023). Disease-associated calmodulin variants impair regulation of neuronal voltage-gated calcium channels. Biophysical Journal, 122(3), 105a. https://doi.org/10.1016/j.bpj.2022.11.754
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Garcia Pavia, P., Gillmore, J. D., Kale, P., Berk, J. L., Maurer, M. S., Conceição, I., Dicarli, M., Solomon, S., Chen, C., Arum, S., Vest, J., Grogan, M., & Hababou, C. (2023). HELIOS-A: 18-month exploratory cardiac results from the phase 3 study of vutrisiran in patients with hereditary transthyretin-mediated amyloidosis. Archives of Cardiovascular Diseases Supplements, 15(1), 31–32. https://doi.org/10.1016/j.acvdsp.2022.10.056
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Shimada, Y. J., Raita, Y., Liang, L. W., Maurer, M. S., Hasegawa, K., Fifer, M. A., & Reilly, M. P. (2022). Prediction of Major Adverse Cardiovascular Events in Patients With Hypertrophic Cardiomyopathy Using Proteomics Profiling. Circulation: Genomic and Precision Medicine, 15(6). https://doi.org/10.1161/circgen.121.003546
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Yamabe, T., Ginns, J., Vedula, V., Leb, J. S., Shimada, Y. J., Weiner, S. D., & Takayama, H. (2022). REPLY FROM AUTHORS: Septal myectomy performed along the “septal band.” JTCVS Techniques, 16, 70–71. https://doi.org/10.1016/j.xjtc.2022.08.013
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Harano, N., Liang, L. W., Hasegawa, K., Maurer, M. S., Tower-Rader, A., Fifer, M. A., Reilly, M. P., & Shimada, Y. J. (2022). Prediction of new-onset atrial fibrillation in patients with hypertrophic cardiomyopathy using proteomics profiling. European Heart Journal, 43(Supplement_2). https://doi.org/10.1093/eurheartj/ehac544.1727
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Lumish, H., Liang, L. W., Hasegawa, K., Maurer, M., Tower-Rader, A., Fifer, M. A., Reilly, M. P., & Shimada, Y. J. (2022). Prediction of worsening heart failure in patients with hypertrophic cardiomyopathy using plasma proteomics profiling. European Heart Journal, 43(Supplement_2). https://doi.org/10.1093/eurheartj/ehac544.1723
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Lee, C., Liang, L. W., Hasegawa, K., Maurer, M. S., Tower-Rader, A., Fifer, M. A., Reilly, M. P., & Shimada, Y. J. (2022). Proteomics profiling reveals signaling pathways associated with major adverse cardiovascular events in patients with hypertrophic cardiomyopathy. European Heart Journal, 43(Supplement_2). https://doi.org/10.1093/eurheartj/ehac544.1724
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Yamabe, T., Ginns, J., Vedula, V., Leb, J. S., Shimada, Y. J., Weiner, S. D., & Takayama, H. (2022). Left ventricular remodeling following septal myectomy in hypertrophic obstructive cardiomyopathy. JTCVS Open, 11, 105–115. https://doi.org/10.1016/j.xjon.2022.05.018
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Lander, B. S., Zhao, Y., Hasegawa, K., Maurer, M. S., Tower-Rader, A., Fifer, M. A., Reilly, M. P., & Shimada, Y. J. (2022). Comprehensive Proteomics Profiling Identifies Patients With Late Gadolinium Enhancement on Cardiac Magnetic Resonance Imaging in the Hypertrophic Cardiomyopathy Population. Frontiers in Cardiovascular Medicine, 9. https://doi.org/10.3389/fcvm.2022.839409
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Zhou, M., Ta, S., Hahn, R. T., Hsi, D. H., Leon, M. B., Hu, R., Zhang, J., Zuo, L., Li, J., Wang, J., Wang, B., Zhu, X., Liu, J., Han, Y., Li, X., Xu, B., Zhang, L., Hou, L., Han, C., … Liu, L. (2022). Percutaneous Intramyocardial Septal Radiofrequency Ablation in Patients With Drug-Refractory Hypertrophic Obstructive Cardiomyopathy. JAMA Cardiology, 7(5), 529. https://doi.org/10.1001/jamacardio.2022.0259
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Lu, S., Hernan, R., Marcogliese, P. C., Huang, Y., Gertler, T. S., Akcaboy, M., Liu, S., Chung, H., Pan, X., Sun, X., Oguz, M. M., Oztoprak, U., de Baaij, J. H. F., Ivanisevic, J., McGinnis, E., Guillen Sacoto, M. J., Chung, W. K., & Bellen, H. J. (2022). Loss-of-function variants in TIAM1 are associated with developmental delay, intellectual disability, and seizures. The American Journal of Human Genetics, 109(4), 571–586. https://doi.org/10.1016/j.ajhg.2022.01.020
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Gudigar, A., Raghavendra, U., Samanth, J., Dharmik, C., Gangavarapu, M. R., Nayak, K., Ciaccio, E. J., Tan, R.-S., Molinari, F., & Acharya, U. R. (2022). Novel Hypertrophic Cardiomyopathy Diagnosis Index Using Deep Features and Local Directional Pattern Techniques. Journal of Imaging, 8(4), 102. https://doi.org/10.3390/jimaging8040102
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Glazer, A. M., Davogustto, G., Shaffer, C. M., Vanoye, C. G., Desai, R. R., Farber-Eger, E. H., Dikilitas, O., Shang, N., Pacheco, J. A., Yang, T., Muhammad, A., Mosley, J. D., Van Driest, S. L., Wells, Q. S., Shaffer, L. L., Kalash, O. R., Wada, Y., Bland, H. T., Yoneda, Z. T., … Roden, D. M. (2022). Arrhythmia Variant Associations and Reclassifications in the eMERGE-III Sequencing Study. Circulation, 145(12), 877–891. https://doi.org/10.1161/circulationaha.121.055562
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Ware, S. M., Bhatnagar, S., Dexheimer, P. J., Wilkinson, J. D., Sridhar, A., Fan, X., Shen, Y., Tariq, M., Schubert, J. A., Colan, S. D., Shi, L., Canter, C. E., Hsu, D. T., Bansal, N., Webber, S. A., Everitt, M. D., Kantor, P. F., Rossano, J. W., Pahl, E., … Lipshultz, S. E. (2022). The genetic architecture of pediatric cardiomyopathy. The American Journal of Human Genetics, 109(2), 282–298. https://doi.org/10.1016/j.ajhg.2021.12.006
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Akita, K., Kaneko, Y., Sato, R., Iguchi, K., Suwa, K., & Maekawa, Y. (2022). 4D Computed Tomography Visualization of Effective Septal Reduction After Alcohol Septal Ablation for Fatal Hypertrophic Obstructive Cardiomyopathy. Circulation Journal, 86(4), 725. https://doi.org/10.1253/circj.cj-21-0922
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