4.2 Article

Genetic Infiltrative Cardiomyopathies

Journal

HEART FAILURE CLINICS
Volume 14, Issue 2, Pages 215-224

Publisher

ELSEVIER SCIENCE INC
DOI: 10.1016/j.hfc.2017.12.003

Keywords

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

Funding

  1. NHLBI NIH HHS [R01 HL147064, R01 HL109209] Funding Source: Medline

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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.

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