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Cardiovascular Intervention and Therapeutics

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10.02.2020 | 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

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

Erschienen in: Cardiovascular Intervention and Therapeutics | Ausgabe 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. …

Salen G, Steiner RD. Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX). J Inherit Metab Dis. 2017;40(6):771–81.CrossRef

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

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.

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

Titel: 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
verfasst von: Kohei Tonai
Yoshiyuki Miyamoto
Tetsuya Iwaguro
Masaoki Miyamoto
Yaushi Okumoto
Keizo Kimura
Publikationsdatum: 10.02.2020
Verlag: Springer Japan
Erschienen in: Cardiovascular Intervention and Therapeutics / Ausgabe 4/2020
Print ISSN: 1868-4300
Elektronische ISSN: 1868-4297
DOI: https://doi.org/10.1007/s12928-020-00650-w

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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

Excerpt

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Update Kardiologie

Live-Webinar: Aktuelle Leitlinien bei Herz-Kreislauf-Erkrankungen

Springer Medizin

Excerpt

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