ABC | Volume 115, Nº1, Suplement, July 2020

Case Report Souto et al. SCAD in a patient with CTX Arq Bras Cardiol 2020; 115(1Suppl.1):18-21 (HDL-C) 47 mg/dL; low-density lipoprotein cholesterol (LDL-C) 101 mg/dL; triglycerides 108 mg/dL. Based on these findings, the patient was started on cardiovascular therapy with Ramipril 10 mg per day, Aspirin 100 mg per day, Carvedilol 6.25 mg twice a day and Rosuvastatin 10 mg at bedtime, associated to the maintenance of the oral bile acid supplementation with CDCA. Discussion and Conclusions Cerebrotendinous xanthomatosis is caused by a homozygous mutation of the mitochondrial enzyme sterol 27-hydroxylase (CYP27), which leads to a number of systemic manifestations. 8 The diagnosis is established upon recognition of these symptoms and the finding of elevated plasma cholestanol, and, if possible, a definitive diagnosis is obtained through the molecular analysis of CYP27A1 gene. 9,10 In the present case, the diagnosis of CTX was established based on the strong symptomatology associated with plasma cholestanol levels, which were very similar to the mean serum concentrations found in other studies (31.79 mcg/mL). 4,10 Cardiac manifestations are less remarkable and present mostly as severe coronary disease, including myocardial infarction, angina pectoris, coronary artery disease and ischemic changes on the electrocardiogram. 5,11 Subsequently, two large studies carried out by Duell et al. 10 and Sekijima et al. 12 demonstrated the presence of cardiovascular disease associated to CTX only in 7% and 20% of their patients, respectively. In this case report, we studied a patient with CTX who developed coronary artery Figure 1 – Xanthomas observed on the region of the right Achilles tendon and on the right knee. Figure 2 – Magnetic resonance imaging showing transmural late gadolinium enhancement (arrows) of the inferior medium-basal, anterior and anterior-septal walls of the left ventricle in four-chamber (A) and two-chamber views (B). 19