A rare autopsy case of arrhythmogenic right ventricular cardiomyopathy in pregnancy: a case report

Abstract

Background: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a primary disease of the myocardium characterized by fibro-adipocytic replacement of myocytes, mostly in the right ventricle. The prevalence of ARVC in the general adult population is estimated to be approximately 1 in 2000 to 1 in 5000. ARVC is an important cause of sudden cardiac death (SCD) in young adults, accounting for approximately 11 percent of cases overall. ARVC is caused by mutations in a variety of genes, most of which encode desmosomal proteins, with greater than 30 percent of cases being familial in origin. We present a rare autopsy case of pregnant woman diagnosed with Arrhythmogenic right ventricular cardiomyopathy. Case presentation: We report a case of a 24-year-old woman at 24-25 weeks of gestation who suddenly collapsed at work and was brought to the emergency department in cardiac arrest. Despite prolonged cardiopulmonary resuscitation, she was pronounced dead. Her medical history included recurrent renal surgeries for hydronephrosis. Autopsy revealed cardiomegaly (379.4 g) with marked right ventricular dilatation, thickened and fatty epicardium, and microscopic evidence of fibrofatty replacement of right ventricular myocardium with inflammatory cell infiltration (CD3+, CD68+). Associated findings included bilateral hydronephrosis, chronic pyelonephritis, accessory liver and spleen lobes, and thoracic scoliosis. The cause of death was determined to be heart failure and arrhythmia secondary to arrhythmogenic right ventricular cardiomyopathy. Conclusion: This case highlights the rare occurrence of ARVC in pregnancy complicated by multiple congenital anomalies and chronic infection. Pregnancy-related hemodynamic stress may exacerbate underlying myocardial pathology, leading to fatal arrhythmia. Early detection of cardiovascular and systemic abnormalities during prenatal care is essential to identify high-risk pregnancies and prevent sudden maternal death.