1. Hereditary Disorders of Cardiovascular Calcification.
- Author
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Rutsch F, Buers I, and Nitschke Y
- Subjects
- Animals, Aortic Diseases complications, Aortic Diseases metabolism, Arteries pathology, Dental Enamel Hypoplasia complications, Dental Enamel Hypoplasia metabolism, Gaucher Disease complications, Gaucher Disease genetics, Gaucher Disease metabolism, Genetic Predisposition to Disease, Humans, Metabolism, Inborn Errors complications, Metabolism, Inborn Errors metabolism, Metacarpus metabolism, Muscular Diseases complications, Muscular Diseases metabolism, Odontodysplasia complications, Odontodysplasia metabolism, Osteoporosis complications, Osteoporosis metabolism, Phenotype, Risk Assessment, Risk Factors, Vascular Calcification complications, Vascular Calcification metabolism, Vascular Calcification pathology, Aortic Diseases genetics, Arteries metabolism, Dental Enamel Hypoplasia genetics, Heredity, Metabolism, Inborn Errors genetics, Metacarpus abnormalities, Muscular Diseases genetics, Odontodysplasia genetics, Osteogenesis genetics, Osteoporosis genetics, Vascular Calcification genetics
- Abstract
Arterial calcification is a common phenomenon in the elderly, in patients with atherosclerosis or renal failure and in diabetes. However, when present in very young individuals, it is likely to be associated with an underlying hereditary disorder of arterial calcification. Here, we present an overview of the few monogenic disorders presenting with early-onset cardiovascular calcification. These disorders can be classified according to the function of the respective disease gene into (1) disorders caused by an altered purine and phosphate/pyrophosphate metabolism, (2) interferonopathies, and (3) Gaucher disease. The finding of arterial calcification in early life should alert the clinician and prompt further genetic work-up to define the underlying genetic defect, to establish the correct diagnosis, and to enable appropriate therapy.
- Published
- 2021
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