Genetic Infiltrative Cardiomyopathies

Abstract

Infiltrative cardiomyopathies are characterized by abnormal accumulation or deposition of substances in cardiac tissue leading to cardiac dysfunction. These can be inherited, resulting from mutations in specific genes, which engender a diverse array of extracardiac features but overlapping cardiac phenotypes. This article provides an overview of each inherited infiltrative cardiomyopathy, describing the causative genes, the pathologic mechanisms involved, the resulting cardiac manifestations, and the therapies currently offered or being developed.

Keywords: Amyloidosis; Cardiac oxalosis; Danon disease; Fabry disease; Friedreich ataxia; Hemochromatosis; Mucopolysaccharidosis; PRKAG2 syndrome.