2021
DOI: 10.1161/atvbaha.120.315577
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Hereditary Disorders of Cardiovascular Calcification

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 … Show more

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Cited by 30 publications
(27 citation statements)
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“…To this end, recent studies of genetic disorders of ectopic mineralization have disclosed several causal genes that have provided new insights into the mechanisms of ectopic mineralization processes in general. 2,3 Among the hereditary ectopic mineralization disorders, pseudoxanthoma elasticum (PXE) (Online Mendelian Inheritance in Man [OMIM] 264800) is the most common orphan disease with a prevalence of approximately 1:50,000.…”
Section: Introductionmentioning
confidence: 99%
“…To this end, recent studies of genetic disorders of ectopic mineralization have disclosed several causal genes that have provided new insights into the mechanisms of ectopic mineralization processes in general. 2,3 Among the hereditary ectopic mineralization disorders, pseudoxanthoma elasticum (PXE) (Online Mendelian Inheritance in Man [OMIM] 264800) is the most common orphan disease with a prevalence of approximately 1:50,000.…”
Section: Introductionmentioning
confidence: 99%
“…Arterial calcification is a feature of aging, atherosclerosis, chronic kidney disease, and diabetes [1]. A few monogenic disorders are characterized by an early-onset of vascular calcification affecting the arterial media [2][3][4]. These diseases include pseudoxanthoma elasticum (PXE), the most frequent one, generalized arterial calcification of infancy (GACI), 2 of 11 and arterial calcification due to deficiency of CD73 (ACDC).…”
Section: Introductionmentioning
confidence: 99%
“…These diseases include pseudoxanthoma elasticum (PXE), the most frequent one, generalized arterial calcification of infancy (GACI), 2 of 11 and arterial calcification due to deficiency of CD73 (ACDC). These three conditions promote a deficiency in pyrophosphate, a key inhibitor of calcium phosphate crystallization in soft tissues and arteries [2][3][4].…”
Section: Introductionmentioning
confidence: 99%
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