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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
Risk stratification in arrhythmogenic cardiomyopathy: scoring or personalized medicine?
Marika Martini1, Ilaria Rigato1, Marta Masini2
1Department of Cardiac, Thoracic, Vascular Sciences and Public Health, University of Padova, v. Giustiniani 2, 35128 Padova, Italy.
Insights
Arrhythmogenic cardiomyopathy (ACM) risk stratification is crucial for patient care. Comprehensive assessment including clinical, genetic, and imaging data, alongside expert clinical judgment, guides effective antiarrhythmic therapy and prognosis.
Area of Science:
- Cardiology
- Genetics
- Medical Diagnostics
Background:
- Arrhythmogenic cardiomyopathy (ACM) management hinges on accurate arrhythmic risk stratification.
- Therapeutic strategies include antiarrhythmic drugs, catheter ablation, and implantable cardioverter-defibrillators.
- ACM exhibits significant phenotypic variability, complicating risk assessment.
Purpose of the Study:
- To review current approaches to arrhythmic risk stratification in arrhythmogenic cardiomyopathy.
- To highlight the evolving role of genetic testing and risk calculators.
- To emphasize the continued importance of expert clinical decision-making.
Main Methods:
- Comprehensive assessment of clinical, morphological, and electrical parameters.
- Integration of genetic testing for prognosis and family screening.
- Utilization of validated risk calculators and ongoing clinical evaluation.
Main Results:
- A multi-faceted approach combining clinical, imaging, and genetic data improves risk stratification.
- Genetic testing aids in prognosis and identifying at-risk family members.
- Risk calculators offer valuable tools but require expert interpretation.
Conclusions:
- Effective ACM management requires periodic reassessment of arrhythmic risk.
- Expert clinical judgment remains paramount despite advancements in risk stratification tools.
- A holistic approach integrating diverse data sources optimizes patient care and outcomes.
Abstract:
Almost 40 years after the description of arrhythmogenic cardiomyopathy (ACM), arrhythmic risk stratification remains central to patient management. Antiarrhythmic therapy may involve the use of antiarrhythmic drugs as well as invasive tools such as catheter ablation, with the implantation of an implantable cardioverter defibrillator being of utmost importance. Given the wide phenotypic variability of ACM, the first step in arrhythmic risk stratification requires a thorough assessment of clinical, morphological, and electrical parameters. Moreover, in the last years, genetic testing has become increasingly important, not only for family screening but also in determining prognosis. Finally, data from large series of ACM patients have led to the creation of risk calculators, which are now available online for the medical community. While newly available methods for stratifying arrhythmic risk can be useful, the thoughtful clinical decision-making by clinicians with specific expertise in cardiomyopathies remains of fundamental importance. Additionally, as ACM is a progressive disease, arrhythmic risk stratification should be periodically revised based on newly emerging clinical and instrumental parameters.
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