Facing the challenges of ventricular hypertrophy: the eyes don't lie

Abstract

We describe the case of a 47-year-old man with new-onset heart failure who was found to have severe biventricular wall thickening. We present comprehensive data from invasive and non-invasive multimodality imaging, genetic and histologic tests, and briefly describe their importance in the final diagnosis. To our knowledge, this is the first case of the Portuguese variant of familial amyloid polyneuropathy presenting with heart failure in the fifth decade of life. This is an unusual case report, but also an illustration of how to approach any patient with suspected infiltrative cardiomyopathy.

Keywords: Cardiomiopatia infiltrativa; Echocardiography; Ecocardiografia; Familial amyloid polyneuropathy; Heart failure; Hipertrofia ventricular; Infiltrative cardiomyopathy; Insuficiência cardíaca; Polineuropatia amiloidótica familiar; Ventricular wall thickening.