Publicaciones Imprimir Sykora D, Olson N, Churchill R, Kim BM, Bratcher M, Elwazir M, Young K, Ryan S, Brodin M, Anderson J, Saunders J, Abou Ezzeddine O, Bois J, Giudicessi J, Cooper L, Rosenbaum A. Pharmacist Medication Titration Program for Patients With Cardiac Sarcoidosis and Systolic Heart Failure: A Retrospective Cohort Study. J Am Heart Assoc. 2024 Dec 17; 13 (24):e038965 Epub 2024 Dec 14 View PubMed Juarez CK, Proost VM, Tanck MW, Dittmann S, Bos JM, Crotti L, Barc J, van den Berg MP, Mujkanovic J, Rickert C, Lopes Neves RA, Musu G, Dagradi F, Giovenzana FLF, Cledel A, Thollet A, Giudicessi JR, Tfelt-Hansen J, Probst V, Schwartz PJ, Ackerman MJ, Schulze-Bahr E, Bezzina CR, Wilde AAM. Novel risk predictor of arrhythmias for patients with potassium channel related congenital Long-QT Syndrome. Heart Rhythm. 2024 Dec 13 [Epub ahead of print] View PubMed O'Neill MJ, Ng CA, Aizawa T, Sala L, Bains S, Winbo A, Ullah R, Shen Q, Tan CY, Kozek K, Vanags LR, Mitchell DW, Shen A, Wada Y, Kashiwa A, Crotti L, Dagradi F, Musu G, Spazzolini C, Neves R, Bos JM, Giudicessi JR, Bledsoe X, Gamazon ER, Lancaster MC, Glazer AM, Knollmann BC, Roden DM, Weile J, Roth F, Salem JE, Earle N, Stiles R, Agee T, Johnson CN, Horie M, Skinner JR, Ackerman MJ, Schwartz PJ, Ohno S, Vandenberg JI, Kroncke BM. Multiplexed Assays of Variant Effect and Automated Patch Clamping Improve KCNH2-LQTS Variant Classification and Cardiac Event Risk Stratification. Circulation. 2024 Dec 3; 150 (23):1869-1881 Epub 2024 Sept 24 View PubMed Tseng AS, Sardana M, Giudicessi JR, Ackerman MJ. Unexplained sudden cardiac arrest and sudden cardiac death in the young: What is killing these young people when nothing is found? Trends Cardiovasc Med. 2024 Nov 20 [Epub ahead of print] View PubMed Haq IU, Giudicessi JR, Bos JM, Sardana M, Ackerman MJ, Killu AM. Atrial fibrillation ablation as a rhythm control strategy in long QT syndrome. HeartRhythm Case Rep. 2024 Nov; 10 (11):847-850 Epub 2024 Aug 21 View PubMed Alsidawi S, Roehl KM, Farina JM, Arsanjani R, Giudicessi JR, Geske JB, Newman DB, Ackerman MJ, Ommen SR. The impact of mavacamten dosing on wall thickness regression: an insight from longer term follow-up based on genetic profile. Am Heart J. 2024 Nov; 277:138-141 Epub 2024 July 30 View PubMed Figueiral M, Paldino A, Wilke MVMB, Farris JD, Verheijen J, Giudicessi JR, Ackerman MJ, Olson JE, Arroyo J, Olson RJ, Klee EW, Pereira NL. Prevalence, Penetrance, and Phenotypic Manifestation of Cardiomyopathy-Associated Genetic Variants in the General Population: Insights from a Mayo Clinic Biobank Study. Mayo Clin Proc. 2024 Nov; 99 (11):1732-1743 Epub 2024 Oct 10 View PubMed Garmany R, Dasari S, Bos JM, Kim ET, Gluscevic M, Martinez KA, Tester DJ, Dos Remedios C, Maleszewski JJ, Dearani JA, Ommen SR, Geske JB, Giudicessi JR, Ackerman MJ. A multi-omics atlas of sex-specific differences in obstructive hypertrophic cardiomyopathy. J Mol Cell Cardiol. 2024 Nov; 196:26-34 Epub 2024 Sept 08 View PubMed Kulkarni VK, Pinsky AM, Bos JM, Neves R, Bains S, Giudicessi JR, Allison TG, Ackerman MJ. Frequency and Genotype-Dependence of intrinsic chronotropic insufficiency among patients with congenital long QT syndrome. J Cardiovasc Electrophysiol. 2024 Oct 20 [Epub ahead of print] View PubMed Neves R, Crotti L, Bains S, Bos JM, Dagradi F, Musu G, Garmany R, Giovenzana FLF, Cerea P, Giudicessi JR, Schwartz PJ, Ackerman MJ. Frequency of and outcomes associated with nonadherence to guideline-based recommendations for an implantable cardioverter-defibrillator in patients with congenital long QT syndrome. Heart Rhythm. 2024 Oct 2 Epub 2024 Oct 02 View PubMed Sykora D, Rosenbaum AN, Churchill RA, Kim BM, Elwazir MY, Bois JP, Giudicessi JR, Bratcher M, Young KA, Ryan SM, Sugrue AM, Killu AM, Chareonthaitawee P, Kapa S, Deshmukh AJ, Abou Ezzeddine OF, Cooper LT, Siontis KC. Arrhythmic manifestations and outcomes of definite and probable cardiac sarcoidosis. Heart Rhythm. 2024 Oct; 21 (10):1978-1986 Epub 2024 Apr 06 View PubMed Castrichini M, Alsidawi S, Geske JB, Newman DB, Arruda-Olson AM, Bos JM, Ommen SR, Siontis KC, Ackerman MJ, Giudicessi JR. Incidence of newly recognized atrial fibrillation in patients with obstructive hypertrophic cardiomyopathy treated with Mavacamten. Heart Rhythm. 2024 Oct; 21 (10):2065-2067 Epub 2024 Apr 15 View PubMed Ye D, Garmany R, Martinez-Barrios E, Gao X, Neves RAL, Tester DJ, Bains S, Zhou W, Giudicessi JR, Ackerman MJ. Clinical Utility of Protein Language Models in Resolution of Variants of Uncertain Significance in KCNQ1, KCNH2, and SCN5A Compared With Patch-Clamp Functional Characterization. Circ Genom Precis Med. 2024 Oct; 17 (5):e004584 Epub 2024 Aug 09 View PubMed Sykora D, Bratcher M, Churchill R, Kim BM, Elwazir M, Young K, Ryan S, Kolluri N, Abou Ezzeddine O, Bois J, Giudicessi J, Cooper L, Rosenbaum A. Medical Therapy and Clinical Outcomes in Cardiac Sarcoidosis Patients With Systolic Heart Failure. Circ J. 2024 Sep 3 Epub 2024 Sept 03 View PubMed Saric P, Bois JP, Giudicessi JR, Rosenbaum AN, Kusmirek JE, Lin G, Chareonthaitawee P. Imaging of Cardiac Sarcoidosis: An Update and Future Aspects. Semin Nucl Med. 2024 Sep; 54 (5):701-716 Epub 2024 Mar 12 View PubMed Kim BM, Sykora D, Rosenbaum AN, Ahmed E, Churchill RA, Bratcher M, Elwazir MY, Bois JP, Giudicessi JR, Sugrue AM, Killu AM, Kapa S, Deshmukh AJ, Asirvatham SJ, Cooper LT, Abou Ezzeddine OF, Siontis KC. Arrhythmic prognosis according to left ventricular systolic dysfunction severity in cardiac sarcoidosis. Heart Rhythm. 2024 Aug 28 [Epub ahead of print] View PubMed Tseng AS, Giudicessi JR, Ackerman MJ. Allergy therapy for patients with a cardiac channelopathy: Do not withhold lifesaving treatments. Heart Rhythm. 2024 Jul 30 Epub 2024 July 30 View PubMed Ni M, Dadon Z, Ormerod JOM, Saenen J, Hoeksema WF, Antiperovitch P, Tadros R, Christiansen MK, Steinberg C, Arnaud M, Tian S, Sun B, Estillore JP, Wang R, Khan HR, Roston TM, Mazzanti A, Giudicessi JR, Siontis KC, Alak A, Acosta JG, Divakara Menon SM, Tan NS, van der Werf C, Nazer B, Vivekanantham H, Pandya T, Cunningham J, Gula LJ, Wong JA, Amit G, Scheinman MM, Krahn AD, Ackerman MJ, Priori SG, Gollob MH, Healey JS, Sacher F, Nof E, Glikson M, Wilde AAM, Watkins H, Jensen HK, Postema PG, Belhassen B, Chen SRW, Roberts JD. A Clinical Diagnostic Test for Calcium Release Deficiency Syndrome. JAMA 2024 Jul 16; 332 (3):204-213 View PubMed Kulkarni VK, Tobert KE, Bos JM, Cowl CT, Giudicessi JR, Ackerman MJ. Return to work for patients in high-risk professions diagnosed with a sudden cardiac death-predisposing genetic heart disease. Heart Rhythm. 2024 Jul 10 Epub 2024 July 10 View PubMed Martinez KA, Bains S, Neves R, Giudicessi JR, Bos JM, Ackerman MJ. Sudden cardiac arrest occurring in temporal proximity to consumption of energy drinks. Heart Rhythm. 2024 Jul; 21 (7):1083-1088 Epub 2024 June 06 View PubMed Haq IU, Akhiyat N, Al-Shakarchi N, Siontis KC, Mulpuru SK, Sugrue A, Giudicessi J, Friedman PA, Asirvatham SJ, Killu AM. Atrial Fibrillation Substrate and Catheter Ablation Outcomes in MYBPC3- and MYH7-Mediated Hypertrophic Cardiomyopathy. JACC Clin Electrophysiol. 2024 Jul; 10 (7 Pt 1):1380-1391 Epub 2024 May 29 View PubMed Castrichini M, De Luca A, De Angelis G, Neves R, Paldino A, Dal Ferro M, Barbati G, Medo K, Barison A, Grigoratos C, Gigli M, Stolfo D, Brun F, Groves DW, Quaife R, Eldemire R, Graw S, Addison J, Todiere G, Gueli IA, Botto N, Emdin M, Aquaro GD, Garmany R, Pereira NL, Taylor MRG, Ackerman MJ, Sinagra G, Mestroni L, Giudicessi JR, Merlo M. Magnetic Resonance Imaging Characterization and Clinical Outcomes of Dilated and Arrhythmogenic Left Ventricular Cardiomyopathies. J Am Coll Cardiol. 2024 May 14; 83 (19):1841-1851 View PubMed Roehl K, Suppah M, Geske J, Newman D, Giudicessi J, Ackerman M, Ommen S, Alsidawi S. Effect of Mavacamten on Hypertrophic Cardiomyopathy Patients With Left Ventricular Outflow Tract Obstruction Provoked Only Postexercise or With Amyl Nitrite. J Am Soc Echocardiogr. 2024 May; 37 (5):566-568 Epub 2024 Jan 23 View PubMed Bains S, Giudicessi JR, Odening KE, Ackerman MJ. State of Gene Therapy for Monogenic Cardiovascular Diseases. Mayo Clin Proc. 2024 Apr; 99 (4):610-629 View PubMed Ackerman MJ, Giudicessi JR. Top stories on gene therapy for genetic heart disease (2024). Heart Rhythm. 2024 Mar; 21 (3):355-356 View PubMed Haq IU, Liu K, Giudicessi JR, Siontis KC, Asirvatham SJ, Attia ZI, Ackerman MJ, Friedman PA, Killu AM. Artificial intelligence-enhanced electrocardiogram for arrhythmogenic right ventricular cardiomyopathy detection. Eur Heart J Digit Health. 2024 Mar; 5 (2):192-194 Epub 2023 Dec 09 View PubMed Bains S, Garmany R, Neves R, Giudicessi JR, Gao X, Tester DJ, Bos JM, Ackerman MJ. Temporal Association Between Vaping and Risk of Cardiac Events. Mayo Clin Proc. 2024 Feb; 99 (2):241-248 View PubMed Giudicessi JR, Alsidawi S, Geske JB, Newman DB, Arruda-Olson AM, Bos JM, Ommen SR, Ackerman MJ. Genotype Influences Mavacamten Responsiveness in Obstructive Hypertrophic Cardiomyopathy. Mayo Clin Proc. 2024 Feb; 99 (2):341-343 View PubMed Neves R, Bains S, Bos JM, MacIntyre C, Giudicessi JR, Ackerman MJ. Precision therapy in congenital long QT syndrome. Trends Cardiovasc Med. 2024 Jan; 34 (1):39-47 Epub 2022 June 27 View PubMed Neves R, Tseng AS, Garmany R, Fink AL, McLeod CJ, Cooper LT, MacIntyre CJ, Homb AC, Rosenbaum AN, Bois JP, Abou Ezzeddine OF, Siontis KC, Pereira NL, Ackerman MJ, Giudicessi JR. Cardiac fludeoxyglucose-18 positron emission tomography in genotype-positive arrhythmogenic cardiomyopathy. Int J Cardiol. 2023 Oct 15; 389:131173 Epub 2023 July 08 View PubMed Castrichini M, Agboola KM, Vyas H, Abou Ezzeddine OF, Siontis KC, Giudicessi JR, Rosenbaum AN, Pereira NL. Cardiac Sarcoidosis Mimickers: Genetic Testing in Undifferentiated Inflammatory Cardiomyopathies. Circ Genom Precis Med. 2023 Oct; 16 (5):478-479 Epub 2023 July 04 View PubMed Garmany R, Bos JM, Dasari S, Johnson KL, Tester DJ, Giudicessi JR, Dos Remedios C, Maleszewski JJ, Ommen SR, Dearani JA, Ackerman MJ. Proteomic and phosphoproteomic analyses of myectomy tissue reveals difference between sarcomeric and genotype-negative hypertrophic cardiomyopathy. Sci Rep. 2023 Sep 1; 13 (1):14341 Epub 2023 Sept 01 View PubMed Levy S, Sharaf Dabbagh G, Giudicessi JR, Haqqani H, Khanji MY, Obeng-Gyimah E, Betts MN, Ricci F, Asatryan B, Bouatia-Naji N, Nazarian S, Chahal CAA. Genetic mechanisms underlying arrhythmogenic mitral valve prolapse: Current and future perspectives. Heart Rhythm O2. 2023 Sep; 4 (9):581-591 Epub 2023 Aug 19 View PubMed Neves R, Bains S, Bos JM, MacIntyre CJ, Giudicessi JR, Ackerman MJ. Fatal Cardiac Arrhythmias During Electronic Gaming in Patients With Genetically Mediated Heart Diseases. J Am Coll Cardiol. 2023 Aug 15; 82 (7):603-611 View PubMed Pinsky AM, Gao X, Bains S, Kim CJ, Louradour J, Odening KE, Tester DJ, Giudicessi JR, Ackerman MJ. Injectable contraceptive Depo-Provera induces erratic beating patterns in patient-specific induced pluripotent stem cell-derived cardiomyocytes with long QT syndrome type 2. Heart Rhythm. 2023 Jun; 20 (6):910-917 Epub 2023 Mar 06 View PubMed Stutzman MJ, Gao X, Kim M, Ye D, Zhou W, Tester DJ, Giudicessi JR, Shannon K, Ackerman MJ. Functional characterization and identification of a therapeutic for a novel SCN5A-F1760C variant causing type 3 long QT syndrome refractory to all guideline-directed therapies. Heart Rhythm. 2023 May; 20 (5):709-717 Epub 2023 Jan 31 View PubMed Zhou W, Ye D, Tester DJ, Bains S, Giudicessi JR, Haglund-Turnquist CM, Orland KM, January CT, Eckhardt LL, Maginot KR, Ackerman MJ. Elucidation of ALG10B as a Novel Long-QT Syndrome-Susceptibility Gene. Circ Genom Precis Med. 2023 Apr; 16 (2):e003726 Epub 2023 Feb 22 View PubMed Garmany R, Bos JM, Tester DJ, Giudicessi JR, Dos Remedios CG, Dasari S, Nagaraj NK, Nair AA, Johnson KL, Ryan ZC, Maleszewski JJ, Ommen SR, Dearani JA, Ackerman MJ. Multi-Omic Architecture of Obstructive Hypertrophic Cardiomyopathy. Circ Genom Precis Med. 2023 Apr; 16(2):e003756. Epub 2023 Feb 20. View PubMed Bains S, Neves R, Bos JM, Giudicessi JR, MacIntyre C, Ackerman MJ. Phenotypes of Overdiagnosed Long QT Syndrome. J Am Coll Cardiol. 2023 Feb 7; 81 (5):477-486 View PubMed Tan NY, Giudicessi JR, Harvey JR, Asirvatham SJ, Siontis KC. Sinus arrest in a p.Arg160X-DSP-positive patient without evidence of desmoplakin-mediated cardiomyopathy: a case report. Front Cardiovasc Med. 2023; 10:1328898 Epub 2023 Dec 19 View PubMed Pham JH, Giudicessi JR, Tweet MS, Boucher L, Newman DB, Geske JB. Tale of two hearts: a TNNT2 hypertrophic cardiomyopathy case report. Front Cardiovasc Med. 2023; 10:1167256 Epub 2023 Apr 27 View PubMed Ye D, Zhou W, Hamrick SK, Tester DJ, Kim CSJ, Barajas-Martinez H, Hu D, Giudicessi JR, Antzelevitch C, Ackerman MJ. Acacetin, a Potent Transient Outward Current Blocker, May Be a Novel Therapeutic for KCND3-Encoded Kv4.3 Gain-of-Function-Associated J-Wave Syndromes. Circ Genom Precis Med. 2022 Oct; 15 (5):e003238 Epub 2022 July 12 View PubMed Martinez K, Bains S, Giudicessi JR, Bos JM, Neves R, Ackerman MJ. Spectrum and prevalence of side effects and complications with guideline-directed therapies for congenital long QT syndrome. Heart Rhythm. 2022 Oct; 19 (10):1666-1672 Epub 2022 June 13 View PubMed Giudicessi JR, Tweet MS, Hayes SN. Genetic Testing in High-risk Spontaneous Coronary Artery Dissection-Searching for Clinical Utility Among Background Genetic Noise. JAMA Cardiol 2022 Oct 1; 7 (10):1055-1056 View PubMed Stutzman MJ, Kim CSJ, Tester DJ, Hamrick SK, Dotzler SM, Giudicessi JR, Miotto MC, Gc JB, Frank J, Marks AR, Ackerman MJ. Characterization of N-terminal RYR2 variants outside CPVT1 hotspot regions using patient iPSCs reveal pathogenesis and therapeutic potential. Stem Cell Reports. 2022 Sep 13; 17 (9):2023-2036 Epub 2022 Aug 04 View PubMed Wilde AAM, Semsarian C, Marquez MF, Shamloo AS, 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, Aiba T, Bollmann A, Choi JI, 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, Document Reviewers//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).. 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. Europace. 2022 Sep 1; 24 (8):1307-1367 View PubMed Ezzeddine FM, Siontis KC, Giudicessi J, Ackerman MJ, Killu AM, Deshmukh AJ, Madhavan M, van Zyl M, Vaidya VR, Karki R, Tseng A, Munger TM, McLeod CJ, Asirvatham SJ, Del-Carpio Munoz F. Substrate Characterization and Outcomes of Catheter Ablation of Ventricular Arrhythmias in Patients With Mitral Annular Disjunction. Circ Arrhythm Electrophysiol. 2022 Sep; 15 (9):e011088 Epub 2022 Sept 08 View PubMed Wilde AAM, Semsarian C, Marquez MF, Sepehri Shamloo A, Ackerman MJ, Ashley EA, Sternick Eduardo B, 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, Aiba T, Bollmann A, Choi JI, Dalal A, Darrieux F, Giudicessi J, Guerchicoff M, Hong K, Krahn AD, Mac Intyre C, Mackall JA, Mont L, Napolitano C, Ochoa Juan P, Peichl P, Pereira AC, Schwartz PJ, Skinner J, Stellbrink C, Tfelt-Hansen J, Deneke T. 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. J Arrhythm. 2022 Aug; 38 (4):491-553 Epub 2022 May 31 View PubMed Wilde AAM, Semsarian C, Marquez MF, Shamloo AS, Ackerman MJ, Ashley EA, Eduardo BS, 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, Aiba T, Bollmann A, Choi JI, Dalal A, Darrieux F, Giudicessi J, Guerchicoff M, Hong K, Krahn AD, Mac Intyre C, Mackall JA, Mont L, Napolitano C, Juan PO, Peichl P, Pereira AC, Schwartz PJ, Skinner J, Stellbrink C, Tfelt-Hansen J, Deneke T. 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. Journal of Arrhythmia. 2022 Aug; 38 (4):491-553 Wilde AAM, Semsarian C, Marquez 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, Aiba T, Bollmann A, Choi JI, 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, Document Reviewers. 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. Heart Rhythm. 2022 Jul; 19 (7):e1-e60 Epub 2022 Apr 04 View PubMed Tobert KE, Tester DJ, Zhou W, Haglund-Turnquist CM, Giudicessi JR, Ackerman MJ. Genome sequencing in a genetically elusive multigenerational long QT syndrome pedigree identifies a novel LQT2-causative deeply intronic KCNH2 variant. Heart Rhythm. 2022 Jun; 19 (6):998-1007 Epub 2022 Feb 07 View PubMed Hamrick SK, John Kim CS, Tester DJ, Giudicessi JR, Ackerman MJ. Patient-specific, re-engineered cardiomyocyte model confirms the circumstance-dependent arrhythmia risk associated with the African-specific common SCN5A polymorphism p.S1103Y: Implications for the increased sudden deaths observed in black individuals during the COVID-19 pandemic. Heart Rhythm. 2022 May; 19 (5):822-827 Epub 2021 Dec 31 View PubMed Garmany R, Neves R, Ali Ahmed F, Tester DJ, Cannon BC, Giudicessi JR, Ackerman MJ. Red herring pathogenic variants: a case report of premature ventricular contraction-triggered ventricular fibrillation with an incidental pathogenic LMNA variant. Eur Heart J Case Rep. 2022 May; 6 (5):ytac115 Epub 2022 Mar 17 View PubMed Bains S, Dotzler SM, Krijger C, Giudicessi JR, Ye D, Bikker H, Rohatgi RK, Tester DJ, Bos JM, Wilde AAM, Ackerman MJ. A phenotype-enhanced variant classification framework to decrease the burden of missense variants of uncertain significance in type 1 long QT syndrome. Heart Rhythm. 2022 Mar; 19 (3):435-442 Epub 2021 Nov 17 View PubMed Lador A, Giudicessi JR, Barake WM, Noseworthy PA, Kapa S, McLeod CJ, Cannon BC, Asirvatham SJ, Ackerman MJ. Premature ventricular contraction-triggered ventricular fibrillation and sudden cardiac arrest in the young. JACC-Clinical Electrophysiology. 2022; 8(3):380-2. Peltenburg PJ, Kallas D, Bos JM, Lieve KVV, Franciosi S, Roston TM, Denjoy I, Sorensen KB, Ohno S, Roses-Noguer F, Aiba T, Maltret A, LaPage MJ, Atallah J, Giudicessi JR, Clur SB, Blom NA, Tanck M, Extramiana F, Kato K, Barc J, Borggrefe M, Behr ER, Sarquella-Brugada G, Tfelt-Hansen J, Zorio E, Swan H, Kammeraad JAE, Krahn AD, Davis A, Sacher F, Schwartz PJ, Roberts JD, Skinner JR, van den Berg MP, Kannankeril PJ, Drago F, Robyns T, Haugaa K, Tavacova T, Semsarian C, Till J, Probst V, Brugada R, Shimizu W, Horie M, Leenhardt A, Ackerman MJ, Sanatani S, van der Werf C, Wilde AAM. An International Multicenter Cohort Study on beta-Blockers for the Treatment of Symptomatic Children With Catecholaminergic Polymorphic Ventricular Tachycardia. Circulation. 2022 Feb; 145 (5):333-344 Epub 2021 Dec 07 View PubMed Neves R, Tester DJ, Simpson MA, Behr ER, Ackerman MJ, Giudicessi JR. Exome Sequencing Highlights a Potential Role for Concealed Cardiomyopathies in Youthful Sudden Cardiac Death. Circ Genom Precis Med. 2022 Feb; 15 (1):e003497 Epub 2021 Dec 24 View PubMed Bains S, Lador A, Neves R, Bos JM, Giudicessi JR, Cannon BC, Ackerman MJ. Role of chronic continuous intravenous lidocaine in the clinical management of patients with malignant type 3 long QT syndrome. Heart Rhythm. 2022 Jan; 19 (1):81-87 Epub 2021 Sept 16 View PubMed Gao X, Ye D, Zhou W, Tester DJ, Ackerman MJ, Giudicessi JR. A novel functional variant residing outside the SCN5A-encoded Nav1.5 voltage-sensing domain causes multifocal ectopic Purkinje-related premature contractions. HeartRhythm Case Rep. 2022 Jan; 8 (1):54-59 Epub 2021 Nov 09 View PubMed Giudicessi JR, Maleszewski JJ, Tester DJ, Ackerman MJ. Prevalence and potential genetic determinants of young sudden unexplained death victims with suspected arrhythmogenic mitral valve prolapse syndrome. Heart Rhythm O2. 2021 Oct; 2 (5):431-438 Epub 2021 July 22 View PubMed Shrivastava S, Cohen-Shelly M, Attia ZI, Rosenbaum AN, Wang L, Giudicessi JR, Redfield M, Bailey K, Lopez-Jimenez F, Lin G, Kapa S, Friedman PA, Pereira NL. Artificial Intelligence-Enabled Electrocardiography to Screen Patients with Dilated Cardiomyopathy. Am J Cardiol. 2021 Sep 15; 155:121-127 Epub 2021 July 24 View PubMed Ezzeddine FM, Giudicessi JR, Maleszewski JJ, Lin PT, Borlaug BA, Geske JB. Unmasking Hydroxychloroquine Cardiotoxicity in a Patient With Heart Failure and Chronotropic Incompetence. JACC Case Rep. 2021 Jul 7; 3 (7):997-1001 Epub 2021 May 26 View PubMed Kim M, Ye D, Kim CSJ, Zhou W, Tester DJ, Giudicessi JR, Ackerman MJ. Development of a patient-specific p.d85n-potassium voltage-gated channel subfamily e member 1-induced pluripotent stem cell-derived cardiomyocyte model for drug-induced long qt syndrome Circulation-Genomic and Precision Medicine. 2021 Jun; 14 (3):313-22 Kim M, Ye D, John Kim CS, Zhou W, Tester DJ, Giudicessi JR, Ackerman MJ. Development of a Patient-Specific p.D85N-Potassium Voltage-Gated Channel Subfamily E Member 1-Induced Pluripotent Stem Cell-Derived Cardiomyocyte Model for Drug-Induced Long QT Syndrome. Circ Genom Precis Med. 2021 Jun; 14 (3):e003234 Epub 2021 May 18 View PubMed Giudicessi JR, Ackerman MJ, Fatkin D, Kovacic JC. Precision Medicine Approaches to Cardiac Arrhythmias: JACC Focus Seminar 4/5. J Am Coll Cardiol. 2021 May 25; 77 (20):2573-2591 View PubMed Giudicessi JR, Shrivastava S, Ackerman MJ, Pereira NL. Clinical Impact of Secondary Risk Factors in TTN-Mediated Dilated Cardiomyopathy. Circ Genom Precis Med 2021 Apr; 14 (2):e003240 Epub 2021 Apr 19 View PubMed Giudicessi JR, Schram M, Bos JM, Galloway CD, Shreibati JB, Johnson PW, Carter RE, Disrud LW, Kleiman R, Attia ZI, Noseworthy PA, Friedman PA, Albert DE, Ackerman MJ. Artificial Intelligence-Enabled Assessment of the Heart Rate Corrected QT Interval Using a Mobile Electrocardiogram Device. Circulation. 2021 Mar 30; 143 (13):1274-1286 Epub 2021 Feb 01 View PubMed Kowlgi GN, Giudicessi JR, Barake W, Bos JM, Ackerman MJ. Efficacy of intentional permanent atrial pacing in the long-term management of congenital long QT syndrome. J Cardiovasc Electrophysiol. 2021 Mar; 32 (3):782-789 Epub 2021 Feb 10 View PubMed Tleyjeh IM, Kashour Z, AlDosary O, Riaz M, Tlayjeh H, Garbati MA, Tleyjeh R, Al-Mallah MH, Sohail MR, Gerberi D, Bin Abdulhak AA, Giudicessi JR, Ackerman MJ, Kashour T. Cardiac Toxicity of Chloroquine or Hydroxychloroquine in Patients With COVID-19: A Systematic Review and Meta-regression Analysis. Mayo Clin Proc Innov Qual Outcomes. 2021 Feb; 5(1):137-150. Epub 2020 Nov 02. View PubMed Conte G, Giudicessi JR, Ackerman MJ. Idiopathic ventricular fibrillation: the ongoing quest for diagnostic refinement. Europace. 2021 Jan 27; 23 (1):4-10 View PubMed Clemens DJ, Gray B, Bagnall RD, Tester DJ, Giudicessi JR, Maleszewski JJ, Crotti L, Schwartz PJ, Matthews E, Semsarian C, Behr ER, Ackerman MJ. Prevalence and Phenotypic Correlations of Calmodulinopathy-Causative CALM1-3 Variants Detected in a Multicenter Molecular Autopsy Cohort of Sudden Unexplained Death Victims. Circ Genom Precis Med 2020 Dec; 13 (6):e003032 Epub 2020 Nov 15 View PubMed Barake W, Giudicessi JR, Asirvatham SJ, Ackerman MJ. Purkinje system hyperexcitability and ventricular arrhythmia risk in type 3 long QT syndrome. Heart Rhythm. 2020 Oct; 17 (10):1768-1776 Epub 2020 May 23 View PubMed Mattivi CL, Bos JM, Bagnall RD, Nowak N, Giudicessi JR, Ommen SR, Semsarian C, Ackerman MJ. Clinical Utility of a Phenotype-Enhanced MYH7-Specific Variant Classification Framework in Hypertrophic Cardiomyopathy Genetic Testing. Circ Genom Precis Med. 2020 Oct; 13 (5):453-459 Epub 2020 Sept 07 View PubMed Giudicessi JR, Roden DM, Wilde AAM, Ackerman MJ. Genetic susceptibility for COVID-19-associated sudden cardiac death in African Americans. Heart Rhythm. 2020 Sep; 17 (9):1487-1492 Epub 2020 May 05 View PubMed Ding Y, Yang J, Chen P, Lu T, Jiao K, Tester DJ, Giudicessi JR, Jiang K, Ackerman MJ, Li Y, Wang DW, Lee HC, Wang DW, Xu X. Knockout of SORBS2 Protein Disrupts the Structural Integrity of Intercalated Disc and Manifests Features of Arrhythmogenic Cardiomyopathy. J Am Heart Assoc. 2020 Sep; 9 (17):e017055 Epub 2020 Aug 18 View PubMed Turkowski KL, Dotzler SM, Tester DJ, Giudicessi JR, Bos JM, Speziale AD, Vollenweider JM, Ackerman MJ. Corrected QT Interval-Polygenic Risk Score and Its Contribution to Type 1, Type 2, and Type 3 Long-QT Syndrome in Probands and Genotype-Positive Family Members. Circ Genom Precis Med. 2020 Aug; 13 (4):e002922 Epub 2020 May 29 View PubMed Giudicessi JR, Noseworthy PA, Friedman PA, Ackerman MJ. Urgent Guidance for Navigating and Circumventing the QTc-Prolonging and Torsadogenic Potential of Possible Pharmacotherapies for Coronavirus Disease 19 (COVID-19). Mayo Clin Proc. 2020 Jun; 95 (6):1213-1221 Epub 2020 Apr 07 View PubMed Garmany R, Giudicessi JR, Ye D, Zhou W, Tester DJ, Ackerman MJ. Clinical and functional reappraisal of alleged type 5 long QT syndrome: Causative genetic variants in the KCNE1-encoded minK beta-subunit. Heart Rhythm. 2020 Jun; 17 (6):937-944 Epub 2020 Feb 10 View PubMed Giudicessi JR, Ye D, Stutzman MJ, Zhou W, Tester DJ, Ackerman MJ. Prevalence and electrophysiological phenotype of rare SCN5A genetic variants identified in unexplained sudden cardiac arrest survivors. Europace. 2020 Apr 1; 22 (4):622-631 View PubMed Clemens DJ, Gray B, Bagnall RD, Tester DJ, Dotzler SM, Giudicessi JR, Matthews E, Semsarian C, Behr ER, Ackerman MJ. Triadin Knockout Syndrome Is Absent in a Multi-Center Molecular Autopsy Cohort of Sudden Infant Death Syndrome and Sudden Unexplained Death in the Young and Is Extremely Rare in the General Population. Circ Genom Precis Med. 2020 Apr; 13 (2):e002731 Epub 2020 Mar 13 View PubMed Giudicessi JR, Ackerman MJ. Established Loss-of-Function Variants in ANK2-Encoded Ankyrin-B Rarely Cause a Concerning Cardiac Phenotype in Humans. 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Variant Frequency and Clinical Phenotype Call Into Question the Nature of Minor, Nonsyndromic Long-QT Syndrome-Susceptibility Gene-Disease Associations. Circulation 2020 Feb 11; 141 (6):495-497 Epub 2020 Feb 10 View PubMed Mattivi CL, Ye D, Tester DJ, Clemens DJ, Zhou W, Giudicessi JR, Ackerman MJ. Utilization of the genome aggregation database, in silico tools, and heterologous expression patch-clamp studies to identify and demote previously published type 2 long QT syndrome: Causative variants from pathogenic to likely benign. Heart Rhythm. 2020 Feb; 17 (2):315-323 Epub 2019 Sept 05 View PubMed Giudicessi JR, Ackerman MJ. Exercise testing oversights underlie missed and delayed diagnosis of catecholaminergic polymorphic ventricular tachycardia in young sudden cardiac arrest survivors. Heart Rhythm. 2019 Aug; 16 (8):1232-1239 Epub 2019 Feb 11 View PubMed Giudicessi JR, Noseworthy PA, Ackerman MJ. The QT Interval. Circulation. 2019 Jun 11; 139 (24):2711-2713 Epub 2019 June 10 View PubMed Giudicessi JR, Lieve KVV, Rohatgi RK, Koca F, Tester DJ, van der Werf C, Martijn Bos J, Wilde AAM, Ackerman MJ. Assessment and Validation of a Phenotype-Enhanced Variant Classification Framework to Promote or Demote RYR2 Missense Variants of Uncertain Significance. Circ Genom Precis Med. 2019 May; 12 (5):e002510 View PubMed Bains S, Tester DJ, Asirvatham SJ, Noseworthy PA, Ackerman MJ, Giudicessi JR. A Novel Truncating Variant in FLNC-Encoded Filamin C May Serve as a Proarrhythmic Genetic Substrate for Arrhythmogenic Bileaflet Mitral Valve Prolapse Syndrome. Mayo Clin Proc. 2019 May; 94 (5):906-913 Epub 2019 Mar 29 View PubMed Stutzman MJ, Ye D, Tester DJ, Giudicessi JR, Ackerman MJ. Is variant pathogenicity in the eye of the beholder? A case of unexplained sudden cardiac arrest highlights the potentially dangerous role of historical rare variant compendia in SCN5A rare variant adjudication. 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Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization. Nat Genet. 2014 Aug; 46 (8):826-36 Epub 2014 June 22 View PubMed Boczek NJ, Ye D, Johnson EK, Wang W, Crotti L, Tester DJ, Dagradi F, Mizusawa Y, Torchio M, Alders M, Giudicessi JR, Wilde AA, Schwartz PJ, Nerbonne JM, Ackerman MJ. Characterization of SEMA3A-encoded semaphorin as a naturally occurring Kv4.3 protein inhibitor and its contribution to Brugada syndrome. Circ Res. 2014 Aug 1; 115 (4):460-9 Epub 2014 June 24 View PubMed Bartos DC, Giudicessi JR, Tester DJ, Ackerman MJ, Ohno S, Horie M, Gollob MH, Burgess DE, Delisle BP. A KCNQ1 mutation contributes to the concealed type 1 long QT phenotype by limiting the Kv7.1 channel conformational changes associated with protein kinase A phosphorylation. Heart Rhythm. 2014 Mar; 11 (3):459-68 Epub 2013 Nov 21 View PubMed Giudicessi JR, Ackerman MJ. Genotype- and phenotype-guided management of congenital long QT syndrome. Curr Probl Cardiol. 2013 Oct; 38(10):417-55. View PubMed Giudicessi JR, Ackerman MJ. Azithromycin and risk of sudden cardiac death: guilty as charged or falsely accused? Cleve Clin J Med. 2013 Sep; 80 (9):539-44 View PubMed Boczek NJ, Best JM, Tester DJ, Giudicessi JR, Middha S, Evans JM, Kamp TJ, Ackerman MJ. Exome sequencing and systems biology converge to identify novel mutations in the L-type calcium channel, CACNA1C, linked to autosomal dominant long QT syndrome. Circ Cardiovasc Genet. 2013 Jun; 6 (3):279-89 View PubMed Dufendach KA, Giudicessi JR, Boczek NJ, Ackerman MJ. Maternal mosaicism confounds the neonatal diagnosis of type 1 Timothy syndrome. Pediatrics. 2013 Jun; 131 (6):e1991-5 Epub 2013 May 20 View PubMed Giudicessi JR, Ackerman MJ. Prevalence and potential genetic determinants of sensorineural deafness in KCNQ1 homozygosity and compound heterozygosity. Circ Cardiovasc Genet. 2013 Apr; 6 (2):193-200 Epub 2013 Feb 07 View PubMed Giudicessi JR, Ackerman MJ. Genetic testing in heritable cardiac arrhythmia syndromes: differentiating pathogenic mutations from background genetic noise. Curr Opin Cardiol. 2013 Jan; 28 (1):63-71 View PubMed Giudicessi JR, Ackerman MJ. Determinants of incomplete penetrance and variable expressivity in heritable cardiac arrhythmia syndromes. Transl Res. 2013 Jan; 161 (1):1-14 Epub 2012 Sept 17 View PubMed Crotti L, Marcou CA, Tester DJ, Castelletti S, Giudicessi JR, Torchio M, Medeiros-Domingo A, Simone S, Will ML, Dagradi F, Schwartz PJ, Ackerman MJ. Spectrum and prevalence of mutations involving BrS1- through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing. J Am Coll Cardiol. 2012 Oct 9; 60(15):1410-8. Epub 2012 Jul 25. View PubMed Giudicessi JR, Kapplinger JD, Tester DJ, Alders M, Salisbury BA, Wilde AA, Ackerman MJ. Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome. Circ Cardiovasc Genet. 2012 Oct 1; 5 (5):519-28 Epub 2012 Sept 04 View PubMed Giudicessi JR, Brost BC, Traynor KD, Ackerman MJ. Potential depot medroxyprogesterone acetate-triggered torsades de pointes in a case of congenital type 2 long QT syndrome. Heart Rhythm. 2012 Jul; 9 (7):1143-7 Epub 2012 Feb 07 View PubMed Giudicessi JR, Ye D, Kritzberger CJ, Nesterenko VV, Tester DJ, Antzelevitch C, Ackerman MJ. Novel mutations in the KCND3-encoded Kv4.3 K+ channel associated with autopsy-negative sudden unexplained death. Hum Mutat. 2012 Jun; 33 (6):989-97 Epub 2012 Mar 27 View PubMed Amin AS, Giudicessi JR, Tijsen AJ, Spanjaart AM, Reckman YJ, Klemens CA, Tanck MW, Kapplinger JD, Hofman N, Sinner MF, Muller M, Wijnen WJ, Tan HL, Bezzina CR, Creemers EE, Wilde AA, Ackerman MJ, Pinto YM. Variants in the 3' untranslated region of the KCNQ1-encoded Kv7.1 potassium channel modify disease severity in patients with type 1 long QT syndrome in an allele-specific manner. Eur Heart J. 2012 Mar; 33(6):714-23. Epub 2011 Dec 23. View PubMed Giudicessi JR, Ackerman MJ. Potassium-channel mutations and cardiac arrhythmias--diagnosis and therapy. Nat Rev Cardiol. 2012 Jan 31; 9 (6):319-32 View PubMed Giudicessi JR, Ye D, Tester DJ, Crotti L, Mugione A, Nesterenko VV, Albertson RM, Antzelevitch C, Schwartz PJ, Ackerman MJ. Transient outward current (I(to)) gain-of-function mutations in the KCND3-encoded Kv4.3 potassium channel and Brugada syndrome. Heart Rhythm. 2011 Jul; 8 (7):1024-32 Epub 2011 Feb 22 View PubMed PST-20532304 Inicio Publicaciones