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Diagnostic delay in arrhythmogenic cardiomyopathy.
Giacomo Tini1, Maddalena Graziosi2, Beatrice Musumeci1
1Cardiology, Department of Clinical and Molecular Medicine, Faculty of Medicine and Psychology, Sapienza University, Via di Grottarossa 1035-1039, 00189, Rome, Italy.
European Journal of Preventive Cardiology
|February 27, 2023
Summary
Diagnosing arrhythmogenic cardiomyopathy (ACM) is often delayed, especially with left ventricular involvement. This delay increases mortality risk, highlighting the need for timely diagnosis through clinical suspicion and advanced imaging.
Area of Science:
- Cardiology
- Genetics
- Medical Diagnostics
Background:
- Arrhythmogenic cardiomyopathy (ACM) presents diverse phenotypes, complicating diagnosis and differential diagnosis.
- Previous studies highlighted diagnostic challenges but lacked systematic analysis of diagnostic delay and its clinical impact.
Purpose of the Study:
- To systematically analyze diagnostic delay in arrhythmogenic cardiomyopathy (ACM).
- To investigate the clinical implications of diagnostic delay in ACM patients.
Main Methods:
- Retrospective review of ACM patients from three Italian Cardiomyopathy Referral Centres.
- Assessment of time from first medical contact to definitive ACM diagnosis, defining significant delay as ≥2 years.
- Comparison of baseline characteristics and clinical course between patients with and without diagnostic delay.
Main Results:
- 31% of 174 ACM patients experienced diagnostic delay, with a median of 8 years.
- Diagnostic delay was more frequent in ACM with left ventricular (LV) involvement and specific genetic backgrounds.
- Common initial misdiagnoses included dilated cardiomyopathy, myocarditis, and idiopathic ventricular arrhythmia.
- Patients with diagnostic delay had significantly greater all-cause mortality at follow-up.
Conclusions:
- Diagnostic delay is prevalent in ACM, particularly with LV involvement.
- Delayed diagnosis of ACM is associated with increased mortality.
- Timely ACM identification requires heightened clinical suspicion and advanced cardiac imaging techniques.
Keywords:
Arrhythmogenic cardiomyopathyBiventricular arrhythmogenic cardiomyopathyDiagnostic delayLeft-dominant arrhythmogenic cardiomyopathyMore Related Videos
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