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Noninvasive Diagnostic Approach to a Rare Variant of Takotsubo Syndrome: From ESC Guidelines to Real World.

ABSTRACT: Takotsubo syndrome is found in about 5%-6% of patients presenting with suspected ST-elevation myocardial infarction. Coronary angiography with left ventriculography is currently considered the modality of choice for the diagnosis. However, improvements of noninvasive diagnostic techniques have been allowing for definite assessment of ventricular function and anatomy. In this setting, the combined use of coronary computed tomography angiography and cardiac magnetic resonance may play a pivotal role for a complete noninvasive diagnosis and management of these patients. We present a case of a 52-year-old woman who presented to our department complaining chest pain and showing left ventricular systolic dysfunction, electrocardiography abnormalities, and mild elevation of cardiac-specific serum enzymes.

SUBMITTER: D'Angelo T

PROVIDER: S-EPMC8388316 | biostudies-literature | 2021 Apr-Jun

REPOSITORIES: biostudies-literature

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Noninvasive Diagnostic Approach to a Rare Variant of Takotsubo Syndrome: From ESC Guidelines to Real World.

D'Angelo Tommaso T Carerj Maria Ludovica ML Zito Concetta C Mazziotti Silvio S

Journal of cardiovascular echography 20210401 2

Takotsubo syndrome is found in about 5%-6% of patients presenting with suspected ST-elevation myocardial infarction. Coronary angiography with left ventriculography is currently considered the modality of choice for the diagnosis. However, improvements of noninvasive diagnostic techniques have been allowing for definite assessment of ventricular function and anatomy. In this setting, the combined use of coronary computed tomography angiography and cardiac magnetic resonance may play a pivotal ro ...[more]

PMID: 34485043

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Project description:Objective: Next-generation sequencing (NGS) technology, changing the diagnostic approach, has become essential in clinical settings, and its adoption by public health laboratories is now the practice. Despite this, as technological innovations, its intake requires an evaluation of both the clinical utility and the economic investment, especially considering the rare disease scenario. This study evaluated the analytical validity and the budget impact of an NGS-Ion Torrent™ approach for the molecular germline diagnosis of two musculoskeletal rare diseases. Methods: Two cohorts of 200 and 199 patients with suspect or clinical diagnosis of multiple osteochondromas (MO) and osteogenesis imperfecta (OI) previously evaluated with a single-gene diagnostic protocol were re-analyzed using a targeted NGS assay. Analytical validity was assessed by comparing NGS and single-gene protocol. A budget impact analysis using real-world cost data-considering the healthcare perspective- was performed by applying activity-based costing (ABC). The cost considered consumables, personnel, and equipment. Additional costs not related to NGS activities were not considered. Sensitivity analysis was performed. Results: The NGS method showed a higher (for MO) and comparable (for OI) diagnostic sensitivity than the traditional techniques, apart from always reducing the time and costs of diagnosis. Overall, the cost saving per patient is € 765 for OI and € 74 for MO. Materials represented the highest cost driver of the NGS process. A time saving-proportional to the panel size-has been assessed in both cases. Conclusions: Our targeted NGS diagnostic approach decreases time to diagnosis and costs, appearing to be beneficial and recommended both for patients and from a healthcare perspective in routine diagnosis also considering very small gene panels and a low patient flow. The adequate analytical sensitivity always required the additional Sanger sequencing step of the low- and non-covered regions. A more accurate strategy evaluation is suggested in the case of ultra-rare/complex diseases, large gene-panel, or non-reference diagnostic centers.

Project description:BACKGROUND:The development of sequencing techniques and statistical methods provides great opportunities for identifying the impact of rare genetic variation on complex traits. However, there is a lack of knowledge on the impact of sample size, case numbers, the balance of cases vs controls for both burden and dispersion based rare variant association methods. For example, Phenome-Wide Association Studies may have a wide range of case and control sample sizes across hundreds of diagnoses and traits, and with the application of statistical methods to rare variants, it is important to understand the strengths and limitations of the analyses. RESULTS:We conducted a large-scale simulation of randomly selected low-frequency protein-coding regions using twelve different balanced samples with an equal number of cases and controls as well as twenty-one unbalanced sample scenarios. We further explored statistical performance of different minor allele frequency thresholds and a range of genetic effect sizes. Our simulation results demonstrate that using an unbalanced study design has an overall higher type I error rate for both burden and dispersion tests compared with a balanced study design. Regression has an overall higher type I error with balanced cases and controls, while SKAT has higher type I error for unbalanced case-control scenarios. We also found that both type I error and power were driven by the number of cases in addition to the case to control ratio under large control group scenarios. Based on our power simulations, we observed that a SKAT analysis with case numbers larger than 200 for unbalanced case-control models yielded over 90% power with relatively well controlled type I error. To achieve similar power in regression, over 500 cases are needed. Moreover, SKAT showed higher power to detect associations in unbalanced case-control scenarios than regression. CONCLUSIONS:Our results provide important insights into rare variant association study designs by providing a landscape of type I error and statistical power for a wide range of sample sizes. These results can serve as a benchmark for making decisions about study design for rare variant analyses.

Dataset Information

Noninvasive Diagnostic Approach to a Rare Variant of Takotsubo Syndrome: From ESC Guidelines to Real World.

Publications

Noninvasive Diagnostic Approach to a Rare Variant of Takotsubo Syndrome: From ESC Guidelines to Real World.

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