Pathology of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia—An Autopsy Study of 20 Forensic Cases

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.

Schimke immuno-osseous dysplasia: a clinicopathological correlation

“…25 However, SD600 had extensive fatty infiltration resembling that of arrhythmogenic right ventricular cardiomyopathy (ARVCM). 27 The fatty infiltration in ARVCM involves the outer two thirds of the myocardium, and spares the right ventricular trabeculations, the ventricular septum and the left ventricular free wall. ARVCM fatty infiltration has been attributed to cardiomyocyte developmental defects and to adipocyte replacement of degenerating myocytes after an inflammatory insult.…”

ACC/AHA/ESC 2006 Guidelines for Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death

“…In an autopsy series, 24 of 27 patients were determined to have died suddenly and 3 to have died of congestive HF (731). SCD occurs relatively frequently during exercise or during stress, but SCD with no apparent provocation is not uncommon (732). In one Italian series, up to 25% of SCD in athletes was related to ARVC (733).…”

Task Force on Sudden Cardiac Death of the European Society of Cardiology

“…Strenuous exercise, sport and acute mental stress are major triggering factors (23-100%) of SCD in patients with RVC [324][325][326][327] . Patients with RVC should therefore be strongly discouraged from practicing competitive sports.…”