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Pathology of arrhythmogenic right ventricular cardiomyopathy/dysplasia--an autopsy study of 20 forensic cases
1Institute of Forensic Medicine of Paris and Department of Forensic Sciences, College of Medicine Cochin Port-Royal, University of Paris, France.
Insights
Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVC) causes sudden death, often in young adults. Autopsy findings suggest ARVC is a degenerative process, potentially involving genetic factors and inflammation, rather than a congenital disorder.
Area of Science:
- Cardiology
- Pathology
- Genetics
Background:
- Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVC) is a primary cardiac disease.
- Histologically, ARVC is defined by fibrofatty infiltration of the right ventricular wall.
- ARVC is a significant cause of sudden cardiac death, particularly in younger individuals.
Observation:
- This autopsy study examined 20 sudden death cases attributed to ARVC.
- The mean age of affected individuals was 41 years, with the disease being previously undiagnosed in all cases.
- Sudden death occurred at rest in 14 cases and during physical exertion in 6 cases, with emotional stress as a trigger in 9 cases.
Findings:
- The study observed fibrofatty replacement of the right ventricular myocardium.
- Inflammatory infiltrates (lymphocytes) were present in 60% of cases, with myocyte necrosis in only one case.
- Both ventricles were affected in 40% of the cases.
Implications:
- ARVC appears to be a degenerative condition rather than congenital.
- Potential contributing factors include genetic predisposition, viral or autoimmune inflammation, and apoptosis.
- Understanding ARVC pathogenesis is crucial for preventing sudden cardiac death.
Abstract:
Arrhythmogenic right ventricular dysplasia/ cardiomyopathy (ARVC) is characterized histologically by massive infiltration of the right ventricular wall by fat tissue, with surviving strands of cardiomyocytes bordered by or embedded in fibrosis. ARVC has been recognized as a cause of sudden death, especially in the young. The purpose of our autopsy study was to examine the clinical characteristics and the pathological patterns in the hearts of 20 people who died suddenly of ARVC. In view of our findings and the literature, we discussed the possible causes and pathogenesis of ARVC, as well as the mechanisms by which sudden death occurs in this disease. During the 7-year study period, 20 hearts from 9 men and 11 women fulfilled the criteria for ARVC. The mean age was 41 years (range, 17 to 80). The disease was unknown prior to death in all cases. Fourteen persons died at rest, and six on effort. In 9 of the 20 cases, the trigger of sudden death was an acute emotional stress, sometimes associated with a moderate physical activity. The mean heart weight was 380 g (range, 280 to 520). Both ventricles were involved in 40% of the cases. Inflammatory infiltrates consisting of lymphocytes were present in 60% of the cases, but myocyte necrosis was found in only one case. ARVC is more likely to result from a degenerative process than a congenital disorder. Genetic factors, viral or autoimmune inflammation or both, and apoptosis are also involved in the degenerative disorder.