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Cardiovascular Intervention and Therapeutics
Published in: Cardiovascular Intervention and Therapeutics 4/2020

01-10-2020 | Arterial Occlusive Disease | Images in Cardiovascular Intervention

A case of effort angina complicated with cerebrotendinous xanthomatosis involving severe coronary artery calcification and the detection of a calcified nodule on optical coherence tomography

Authors: Kohei Tonai, Yoshiyuki Miyamoto, Tetsuya Iwaguro, Masaoki Miyamoto, Yaushi Okumoto, Keizo Kimura

Published in: Cardiovascular Intervention and Therapeutics | Issue 4/2020

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Excerpt

A 43-year-old male was admitted to our hospital with effort angina. At the age of 31, he had exhibited a disturbance of memory, Achilles tendon xanthomas, and an elevated serum cholestanol level of 9.9 mg/dl, which led to a suspicion of cerebrotendinous xanthomatosis (CTX). His total cholesterol, high-density lipoprotein cholesterol, and low-density lipoprotein cholesterol (LDL-C) levels were 208 mg/dl, 65 mg/dl, and 130 mg/dl, respectively. He was finally diagnosed with CTX via a genetic analysis, which demonstrated the p.Arg372Gln variant in the CYP27A1 gene (which codes for sterol 27-hydroxylase). He was treated with chenodeoxycholic acid and a statin. …
Literature
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Salen G, Steiner RD. Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX). J Inherit Metab Dis. 2017;40(6):771–81.CrossRef
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Kuriyama M, Fujiyama J, Yoshidome H, Takenaga S, Matsumuro K, Kasama T, et al. Cerebrotendinous xanthomatosis: clinical and biochemical evaluation of eight patients and review of the literature. J Neurol Sci. 1991;102(2):225–32.CrossRef
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Björkhem I, Boberg KM. Inborn errors in bile acid biosynthesis and storage of sterols other than cholesterol. In: Scriver CR, Beaudet CR, Sly WS, editors. The metabolic basis of inherited disease. 7th ed. New York: MacGraw-Hill; 1998. p. 2073–2099.
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Weingärtner O, Laufs U, Böhm M, Lütjohann D. An alternative pathway of reverse cholesterol transport: the oxysterol 27-hydroxycholesterol. Atherosclerosis. 2010;209(1):39–41.CrossRef
Metadata
Title
A case of effort angina complicated with cerebrotendinous xanthomatosis involving severe coronary artery calcification and the detection of a calcified nodule on optical coherence tomography
Authors
Kohei Tonai
Yoshiyuki Miyamoto
Tetsuya Iwaguro
Masaoki Miyamoto
Yaushi Okumoto
Keizo Kimura
Publication date
01-10-2020
Publisher
Springer Japan
Published in
Cardiovascular Intervention and Therapeutics / Issue 4/2020
Print ISSN: 1868-4300
Electronic ISSN: 1868-4297
DOI
https://doi.org/10.1007/s12928-020-00650-w

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