Cardiomyopathies Due to Left Ventricular Noncompaction, Mitochondrial and Storage Diseases, and Inborn Errors of Metabolism

The normal function of the human myocardium requires the proper generation and utilization of energy and relies on a series of complex metabolic processes to achieve this normal function. When metabolic processes fail to work properly or effectively, heart muscle dysfunction can occur with or withou...

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Bibliographic Details
Published in:Circulation research 2017-09, Vol.121 (7), p.838-854
Main Authors: Towbin, Jeffrey A, Jefferies, John Lynn
Format: Article
Language:English
Subjects:
Animals
Biopsy
Cardiac muscle
Cardiomyopathies - diagnosis
Cardiomyopathies - genetics
Cardiomyopathies - metabolism
Cardiomyopathies - therapy
Cardiomyopathy
Cytoskeleton
Genetic Markers
Genetic Predisposition to Disease
Heart diseases
Humans
Inborn errors of metabolism
Isolated Noncompaction of the Ventricular Myocardium - diagnosis
Isolated Noncompaction of the Ventricular Myocardium - genetics
Isolated Noncompaction of the Ventricular Myocardium - metabolism
Isolated Noncompaction of the Ventricular Myocardium - therapy
Metabolism
Metabolism, Inborn Errors - diagnosis
Metabolism, Inborn Errors - genetics
Metabolism, Inborn Errors - metabolism
Metabolism, Inborn Errors - therapy
Mitochondria
Mitochondrial Diseases - diagnosis
Mitochondrial Diseases - genetics
Mitochondrial Diseases - metabolism
Mitochondrial Diseases - therapy
Molecular Diagnostic Techniques
Mutation
Myocardium
Myocardium - metabolism
Myocardium - pathology
Phenotype
Prognosis
Risk Factors
Skeletal muscle
Storage diseases
Structure-function relationships
Ventricle
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Description
Summary:The normal function of the human myocardium requires the proper generation and utilization of energy and relies on a series of complex metabolic processes to achieve this normal function. When metabolic processes fail to work properly or effectively, heart muscle dysfunction can occur with or without accompanying functional abnormalities of other organ systems, particularly skeletal muscle. These metabolic derangements can result in structural, functional, and infiltrative deficiencies of the heart muscle. Mitochondrial and enzyme defects predominate as disease-related etiologies. In this review, left ventricular noncompaction cardiomyopathy, which is often caused by mutations in sarcomere and cytoskeletal proteins and is also associated with metabolic abnormalities, is discussed. In addition, cardiomyopathies resulting from mitochondrial dysfunction, metabolic abnormalities, storage diseases, and inborn errors of metabolism are described.
ISSN:0009-7330
1524-4571
DOI:10.1161/CIRCRESAHA.117.310987