Sudden Death and Left Ventricular Involvement in Arrhythmogenic Cardiomyopathy
Chris Miles1, Gherardo Finocchiaro1, Michael Papadakis1
1Cardiology Clinical Academic Group, St George's University Hospitals' NHS Foundation Trust and Molecular and Clinical Sciences Institute, St George's University of London, United Kingdom (C.M., G.F., M.P., B.G., J.W., B.E., J.B., G.P.-W., E.P. C.P., A.M., A.A., M.T., S.S., E.R.B., M.N.S.).
Circulation
|February 1, 2019
Summary
Arrhythmogenic cardiomyopathy (ACM) causes sudden cardiac death (SCD), predominantly in men and athletes, often without prior symptoms. Autopsy reveals frequent left ventricular involvement, suggesting current diagnostic criteria may miss biventricular ACM cases.
Area of Science:
- Cardiology
- Pathology
- Genetics
Background:
- Arrhythmogenic cardiomyopathy (ACM) is an inherited heart disorder causing fibrofatty replacement and sudden cardiac death (SCD).
- Initially considered a right ventricular disease, ACM is now recognized as a biventricular condition.
- This study examines pathological, genetic, and clinical factors in a large cohort of sudden cardiac death cases.
Purpose of the Study:
- To investigate the characteristics of arrhythmogenic cardiomyopathy (ACM) in sudden cardiac death (SCD) cases.
- To evaluate the prevalence of biventricular involvement in ACM.
- To assess the effectiveness of current diagnostic criteria for ACM.
Main Methods:
- Analysis of 5205 sudden cardiac death (SCD) cases over 25 years.
- Expert cardiac pathology examination and histological evaluation.
- Recording of clinical history, symptoms, and participation in competitive sports; postmortem genetic testing was performed in a subset.
Main Results:
- 202 cases (4%) were diagnosed with ACM, predominantly in males (82%) and young individuals (mean age 35.4 years).
- 78% of ACM decedents had no prior cardiac symptoms; 20% were competitive athletes.
- Left ventricular involvement was found in 87% of cases, with biventricular disease in 70%; 25% of tested cases had pathogenic variants in ACM-related genes.
Conclusions:
- Sudden cardiac death (SCD) due to ACM primarily affects men, often during physical exertion in athletes with no prior symptoms.
- Left ventricular involvement is common in autopsy-diagnosed ACM.
- Current diagnostic criteria may not adequately identify biventricular ACM prior to death.
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