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Article ; Online: Proceed with caution: Standard protocol exercise stress tests fail to replicate the diagnostic utility of supine-stand tests for long QT syndrome.

Pinsky, Alexa M / Kulkarni, Veda K / Bos, J Martijn / Neves, Raquel / Allison, Thomas G / Ackerman, Michael J

Pacing and clinical electrophysiology : PACE

2024 Volume 47, Issue 3, Page(s) 455–461

Abstract: Background: Long QT syndrome (LQTS) is a sudden death predisposing condition characterized by ECG-derived prolongation of the QT interval. Previous studies have demonstrated that the supine-stand test may aid in the diagnosis of LQTS as patients fail to ...

Abstract	Background: Long QT syndrome (LQTS) is a sudden death predisposing condition characterized by ECG-derived prolongation of the QT interval. Previous studies have demonstrated that the supine-stand test may aid in the diagnosis of LQTS as patients fail to shorten their QT interval in response to standing up. The aim of this study was to evaluate the diagnostic accuracy of ECG data derived from standard protocol, clinically performed treadmill exercise stress tests (TESTs) in their ability to mimic the formal supine-stand test. Methods: We performed a retrospective review of 478 TESTs from patients evaluated for LQTS. Patients referred for evaluation of LQTS but who were dismissed as normal served as controls. Heart rate & QT values were obtained from standard protocol TESTs. Results: Overall, 243 patients with LQTS (125 LQT1, 63 LQT2, 55 LQT3; 146 [60%] female, mean age at TEST 30 ± 17 years) and 235 controls (142 [60%] female, mean age 24 ± 15 years) were included. The paired ΔQTc (QTc Conclusion: TESTs should be used with caution when trying to interpret supine-stand changes for diagnosis of LQTS.
MeSH term(s)	Humans ; Female ; Child ; Adolescent ; Young Adult ; Adult ; Male ; Exercise Test ; Electrocardiography ; Long QT Syndrome/diagnosis ; Heart Rate/physiology ; Retrospective Studies
Language	English
Publishing date	2024-02-13
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Extramural
ZDB-ID	424437-0
ISSN	1540-8159 ; 0147-8389
ISSN (online)	1540-8159
ISSN	0147-8389
DOI	10.1111/pace.14945
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Article ; Online: Temporal Association Between Vaping and Risk of Cardiac Events.

Bains, Sahej / Garmany, Ramin / Neves, Raquel / Giudicessi, John R / Gao, Xiaozhi / Tester, David J / Bos, J Martijn / Ackerman, Michael J

Mayo Clinic proceedings

2024 Volume 99, Issue 2, Page(s) 241–248

Abstract: Objective: To describe our early observations with sudden cardiac arrest (SCA) and sudden death (SD) in patients using vape products.: Patients and methods: A retrospective analysis of Mayo Clinic's Windland Smith Rice Genetic Heart Rhythm Clinic and ...

Abstract	Objective: To describe our early observations with sudden cardiac arrest (SCA) and sudden death (SD) in patients using vape products. Patients and methods: A retrospective analysis of Mayo Clinic's Windland Smith Rice Genetic Heart Rhythm Clinic and Sudden Death Genomics Laboratory was performed on all SCA survivors and decedents who presented between January 1, 2007, and December 31, 2021, to identify patients/decedents with a history of vaping. Data abstraction included patient demographics, clinical characteristics, and documented use of vape products. Results: Among 144 SCA survivors and 360 SD victims, there were six individuals (1%; 3 females) with unexplained SCA (n=4) or SD (n=2) that was temporally associated with vaping use with a mean age at sentinel event of 23±5 years. The SCA survivors include a 19-year-old male who was resuscitated from documented ventricular fibrillation 40 minutes after vaping and a 19-year-old male who was resuscitated from ventricular fibrillation a few hours post vaping. The first SD victim was a 19-year-old female with exercise-induced asthma who died in her sleep after vaping that evening. Autopsy results showed eosinophilic infiltrates in the lung tissue and death was attributed to bronchial asthma. The second vaping-associated death involved a 26-year-old male whose autopsy attributed the death to acute respiratory distress syndrome. Conclusion: We have identified six young individuals with a history of vaping who experienced a near fatal episode or a tragic SD. Although larger cohort studies are needed to quantify the actual risk of SD, it seems prudent to sound an early warning about vaping's potential lethality.
MeSH term(s)	Humans ; Male ; Female ; Adolescent ; Young Adult ; Adult ; Ventricular Fibrillation/complications ; Vaping/adverse effects ; Retrospective Studies ; Death, Sudden, Cardiac/epidemiology ; Death, Sudden, Cardiac/etiology ; Heart Arrest
Language	English
Publishing date	2024-01-11
Publishing country	England
Document type	Case Reports ; Journal Article
ZDB-ID	124027-4
ISSN	1942-5546 ; 0025-6196
ISSN (online)	1942-5546
ISSN	0025-6196
DOI	10.1016/j.mayocp.2023.09.017
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Article ; Online: Genotype Influences Mavacamten Responsiveness in Obstructive Hypertrophic Cardiomyopathy.

Giudicessi, John R / Alsidawi, Said / Geske, Jeffrey B / Newman, Darrell B / Arruda-Olson, Adelaide M / Bos, J Martijn / Ommen, Steve R / Ackerman, Michael J

Mayo Clinic proceedings

2024 Volume 99, Issue 2, Page(s) 341–343

MeSH term(s)	Humans ; Cardiomyopathy, Hypertrophic/drug therapy ; Cardiomyopathy, Hypertrophic/genetics ; Genotype ; Benzylamines ; Uracil
Chemical Substances	MYK-461 ; Benzylamines ; Uracil (56HH86ZVCT)
Language	English
Publishing date	2024-01-11
Publishing country	England
Document type	Journal Article
ZDB-ID	124027-4
ISSN	1942-5546 ; 0025-6196
ISSN (online)	1942-5546
ISSN	0025-6196
DOI	10.1016/j.mayocp.2023.11.019
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Article ; Online: Incidence of Newly Recognized Atrial Fibrillation in Patients with Obstructive Hypertrophic Cardiomyopathy Treated with Mavacamten.

Castrichini, Matteo / Alsidawi, Said / Geske, Jeffrey B / Newman, Darrell B / Arruda-Olson, Adelaide M / Bos, J Martijn / Ommen, Steve R / Siontis, Konstantinos C / Ackerman, Michael J / Giudicessi, John R

Heart rhythm

2024

Language	English
Publishing date	2024-04-13
Publishing country	United States
Document type	Journal Article
ZDB-ID	2229357-7
ISSN	1556-3871 ; 1547-5271
ISSN (online)	1556-3871
ISSN	1547-5271
DOI	10.1016/j.hrthm.2024.04.055
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Article: Radiology AI Deployment and Assessment Rubric (RADAR) to bring value-based AI into radiological practice.

Boverhof, Bart-Jan / Redekop, W Ken / Bos, Daniel / Starmans, Martijn P A / Birch, Judy / Rockall, Andrea / Visser, Jacob J

Insights into imaging

2024 Volume 15, Issue 1, Page(s) 34

Abstract: Objective: To provide a comprehensive framework for value assessment of artificial intelligence (AI) in radiology.: Methods: This paper presents the RADAR framework, which has been adapted from Fryback and Thornbury's imaging efficacy framework to ... ...

Abstract	Objective: To provide a comprehensive framework for value assessment of artificial intelligence (AI) in radiology. Methods: This paper presents the RADAR framework, which has been adapted from Fryback and Thornbury's imaging efficacy framework to facilitate the valuation of radiology AI from conception to local implementation. Local efficacy has been newly introduced to underscore the importance of appraising an AI technology within its local environment. Furthermore, the RADAR framework is illustrated through a myriad of study designs that help assess value. Results: RADAR presents a seven-level hierarchy, providing radiologists, researchers, and policymakers with a structured approach to the comprehensive assessment of value in radiology AI. RADAR is designed to be dynamic and meet the different valuation needs throughout the AI's lifecycle. Initial phases like technical and diagnostic efficacy (RADAR-1 and RADAR-2) are assessed pre-clinical deployment via in silico clinical trials and cross-sectional studies. Subsequent stages, spanning from diagnostic thinking to patient outcome efficacy (RADAR-3 to RADAR-5), require clinical integration and are explored via randomized controlled trials and cohort studies. Cost-effectiveness efficacy (RADAR-6) takes a societal perspective on financial feasibility, addressed via health-economic evaluations. The final level, RADAR-7, determines how prior valuations translate locally, evaluated through budget impact analysis, multi-criteria decision analyses, and prospective monitoring. Conclusion: The RADAR framework offers a comprehensive framework for valuing radiology AI. Its layered, hierarchical structure, combined with a focus on local relevance, aligns RADAR seamlessly with the principles of value-based radiology. Critical relevance statement: The RADAR framework advances artificial intelligence in radiology by delineating a much-needed framework for comprehensive valuation. Keypoints: • Radiology artificial intelligence lacks a comprehensive approach to value assessment. • The RADAR framework provides a dynamic, hierarchical method for thorough valuation of radiology AI. • RADAR advances clinical radiology by bridging the artificial intelligence implementation gap.
Language	English
Publishing date	2024-02-05
Publishing country	Germany
Document type	Journal Article
ZDB-ID	2543323-4
ISSN	1869-4101
ISSN	1869-4101
DOI	10.1186/s13244-023-01599-z
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Article ; Online: Bilateral cardiac sympathetic denervation in patients with congenital long QT syndrome.

Tobert, Kathryn E / Bos, J Martijn / Moir, Christopher / Polites, Stephanie F / Ackerman, Michael J

Heart rhythm

2023 Volume 20, Issue 7, Page(s) 1033–1038

Abstract: Background: Long QT syndrome (LQTS) is a potentially lethal yet treatable genetic heart disease for which left cardiac sympathetic denervation (LCSD) is a class I recommendation. Recent reports have suggested bilateral cardiac sympathetic denervation ( ... ...

Abstract	Background: Long QT syndrome (LQTS) is a potentially lethal yet treatable genetic heart disease for which left cardiac sympathetic denervation (LCSD) is a class I recommendation. Recent reports have suggested bilateral cardiac sympathetic denervation (BiCSD) as the initial surgical denervation therapy in LQTS. Objective: The purpose of this study was to determine the frequency and settings in which BiCSD was used in a tertiary referral center with expertise in LCSD. Methods: We performed a retrospective review of 234 out of 1638 patients with LQTS who underwent sympathetic denervation (14%) at our institution to identify the subset of patients who underwent BiCSD. Cardiac events (CEs) before LCSD, after LCSD, and after the completion of BiCSD were recorded and defined as being an appropriate implantable cardioverter-defibrillator shock, arrhythmic syncope, or sudden cardiac arrest. Results: Only 11 patients (4.7%; 6 females [55%]) had BiCSD at our institution. Patients who received BiCSD trended toward being younger at diagnosis (6 ± 15 years vs 14 ± 13 years; P = .06) and being more likely to be symptomatic (73% vs 53%; P = .07) than the larger LCSD-only cohort. Continued CEs post-LCSD (3.8 CEs per patient on average) was the predominant determinant to return for BiCSD. Over 60 combined years of follow-up, 4 patients have not had a CE post-BiCSD while the other 7 patients average 3.6 nonlethal CEs. Conclusion: Less than 5% of all patients receiving denervation therapy underwent BiCSD. When BiCSD was chosen, it was almost always done in a staged sequential manner beginning with LCSD first and when driven by the arrhythmogenicity of the LQTS substrate, despite otherwise optimized guideline-directed therapies.
MeSH term(s)	Female ; Humans ; Heart ; Long QT Syndrome/diagnosis ; Long QT Syndrome/surgery ; Long QT Syndrome/etiology ; Sympathectomy/adverse effects ; Death, Sudden, Cardiac/etiology ; Electric Countershock ; Retrospective Studies
Language	English
Publishing date	2023-03-17
Publishing country	United States
Document type	Journal Article
ZDB-ID	2229357-7
ISSN	1556-3871 ; 1547-5271
ISSN (online)	1556-3871
ISSN	1547-5271
DOI	10.1016/j.hrthm.2023.03.016
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Article ; Online: Clinical course of patients with hypertrophic cardiomyopathy away from tertiary referral care.

Garmany, Ramin / Bos, J Martijn / Ommen, Steve R / Ackerman, Michael J / Geske, Jeffrey B

ESC heart failure

2023 Volume 10, Issue 3, Page(s) 1919–1927

Abstract: Aims: Data on the clinical course of hypertrophic cardiomyopathy (HCM) are mainly derived from tertiary HCM centre studies, and knowledge of clinical outcomes of patients leaving specialty care and returning to local physicians is limited due to gaps ... ...

Abstract	Aims: Data on the clinical course of hypertrophic cardiomyopathy (HCM) are mainly derived from tertiary HCM centre studies, and knowledge of clinical outcomes of patients leaving specialty care and returning to local physicians is limited due to gaps between clinical encounters or complete loss of follow-up. This survey aims to describe the clinical course of HCM in patients following their evaluation at a tertiary referral centre. Methods and results: A comprehensive outcomes survey was developed and sent to 4495 eligible patients with HCM previously evaluated at Mayo Clinic. Questions assessed general well-being, New York Heart Association class, procedures performed, and probable HCM-triggered ventricular arrhythmic events (VAEs) since last visit. In total, 2058 patients (mean age 63 ± 15 years; 42% female) responded to the survey covering a total of 10 510 patient-years with an average of 5.4 ± 6.4 years of follow-up since their last on-campus/virtual visit to Mayo Clinic. During their time away from specialty care, 20% of patients reported having cardiac-related hospitalizations and 25% reported having cardiac-related procedures. Similar to high-risk referral cohorts, 5% of patients reported VAEs with an event rate of 0.98 events/100 patient-years. The prevalence of atrial fibrillation, syncope, pre-syncope, cardiac-related hospitalizations, and VAEs during time away from specialty care increased significantly with increasing New York Heart Association class (P < 0.001). Conclusions: Acknowledging ascertainment bias, the clinical course of patients away from tertiary care may be more severe than previously anticipated. Among those with exertional symptoms, HCM-related morbidity increased substantially. Higher risk HCM patients should remain in contact with HCM specialty care.
MeSH term(s)	Humans ; Female ; Middle Aged ; Aged ; Male ; Tertiary Healthcare ; Atrial Fibrillation ; Cardiomyopathy, Hypertrophic/diagnosis ; Cardiomyopathy, Hypertrophic/epidemiology ; Cardiomyopathy, Hypertrophic/therapy ; Disease Progression ; Syncope
Language	English
Publishing date	2023-03-28
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2814355-3
ISSN	2055-5822 ; 2055-5822
ISSN (online)	2055-5822
ISSN	2055-5822
DOI	10.1002/ehf2.14345
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Article ; Online: Outcomes of Athletes With Genetic Heart Diseases and Implantable Cardioverter-Defibrillators Who Chose to Return to Play.

Tobert, Kathryn E / Bos, J Martijn / Cannon, Bryan C / Ackerman, Michael J

Mayo Clinic proceedings

2022 Volume 97, Issue 11, Page(s) 2028–2039

Abstract: Objective: To evaluate outcomes for athletes with a genetic heart disease (GHD) and an implantable cardioverter-defibrillator (ICD) after return-to-play (RTP) approval.: Patients and methods: We conducted a retrospective review of athletes with GHD ... ...

Abstract	Objective: To evaluate outcomes for athletes with a genetic heart disease (GHD) and an implantable cardioverter-defibrillator (ICD) after return-to-play (RTP) approval. Patients and methods: We conducted a retrospective review of athletes with GHD and an ICD who were evaluated and treated in Mayo Clinic's Genetic Heart Rhythm Clinic between July 2000 and July 2020. Data on frequency of GHD-associated breakthrough cardiac events (BCEs), inappropriate shocks, and ICD-related complications were collected and analyzed. Results: There were 125 (57 [45.6%] female) GHD-positive athletes with an ICD (mean age at RTP was 19.8±11.6 years); 56 of 125 (44.8%) had long QT syndrome. Overall, 42 ventricular fibrillation-terminating ICD therapies were given to 23 athletes (18.4%) over an average follow-up of 3.6±3.5 years. Athletes with an ICD were more likely to experience a BCE during athletic follow-up (n=28 of 125, 22.4%) compared with those without an ICD (n=4 of 533, 0.8%; P<.0001). The BCE rate for athletes with ICDs was 6.3 events per 100 athlete-years of follow-up; this included 5.1 ventricular fibrillation-terminating events per 100 athlete-years compared with 0.3 BCEs per 100 patient-years for athletes without ICDs. In total, 6 (4.8%) athletes experienced at least one inappropriate shock (1.34 per 100 athlete-years) and 28 (29.6%) athletes had at least one other device-related complication (5.02 per 100 patient-years). However, none of these other complications occurred during sports. Conclusion: This 20-year single-center study provides the longest spanning retrospective review of outcomes for athletes with ICDs given RTP approval. For athletes with GHD and an ICD, no sports-associated deaths or reports of sports-related ICD damage occurred.
MeSH term(s)	Female ; Humans ; Child ; Adolescent ; Young Adult ; Adult ; Male ; Defibrillators, Implantable ; Death, Sudden, Cardiac/etiology ; Death, Sudden, Cardiac/prevention & control ; Return to Sport ; Ventricular Fibrillation/therapy ; Athletes ; Arrhythmias, Cardiac/therapy ; Treatment Outcome
Language	English
Publishing date	2022-08-16
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	124027-4
ISSN	1942-5546 ; 0025-6196
ISSN (online)	1942-5546
ISSN	0025-6196
DOI	10.1016/j.mayocp.2022.03.024
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Article ; Online: Unraveling the Puzzle of the Role of Heritability in the Variability of the QT Interval Using Exome Array Analysis.

Bos, J Martijn / Pereira, Naveen L

Circulation. Genomic and precision medicine

2018 Volume 11, Issue 1, Page(s) e002007

MeSH term(s)	Death, Sudden, Cardiac ; Electrocardiography ; Exome ; Humans ; Long QT Syndrome/genetics
Language	English
Publishing date	2018-06-06
Publishing country	United States
Document type	Editorial ; Research Support, N.I.H., Extramural ; Comment
ISSN	2574-8300
ISSN (online)	2574-8300
DOI	10.1161/CIRCGEN.117.002007
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Article ; Online: Editorial commentary: Genetic contributions to cardiovascular disease: The blurred lines between monogenic and polygenic traits.

Ingles, Jodie / Bos, J Martijn

Trends in cardiovascular medicine

2017 Volume 27, Issue 6, Page(s) 405–407

Language	English
Publishing date	2017-08
Publishing country	United States
Document type	Editorial
ZDB-ID	1097434-9
ISSN	1873-2615 ; 1050-1738
ISSN (online)	1873-2615
ISSN	1050-1738
DOI	10.1016/j.tcm.2017.04.001
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