A 62-year-old recreational cyclist presented with transient loss of consciousness and common electrocardiographic findings. Despite absence of left ventricular hypertrophy, multidisciplinary evaluation and a positive family history led to the diagnosis of non-classical Fabry disease. This case emphasizes the added value of multidisciplinary analysis of nonspecific findings to diagnose a rare disease.
Keywords: Anderson-Fabry disease; athlete; cardiac magnetic resonance imaging; cardiomyopathy; electrocardiography; genetic cardiac disorders.
© 2024 The Authors.