Sitosterolemia Exhibiting Severe Hypercholesterolemia with Tendon Xanthomas Due to Compound Heterozygous ABCG5 Gene Mutations Treated with Ezetimibe and Alirocumab.

We herein report a rare case presenting with severe hypercholesterolemia, massive Achilles tendon xanthomas, and multi-vessel coronary artery disease. Initially, the patient was misdiagnosed with familial hypercholesterolemia. However, a genetic analysis using our custom sequencing panel covering genes associated with Mendelian lipid disorders revealed him to have a genetic basis of sitosterolemia with compound heterozygous mutations in the adenosine triphosphate binding cassette subfamily G5 (ABCG5) gene. A comprehensive genetic analysis can be particularly useful for diagnosing cases with severe phenotypes, leading to appropriate and medical therapies. Our patient was refractory to statins, whereas ezetimibe and PCSK9 inhibitor with a low-plant-sterol diet successfully reduced his serum levels of low-density lipoprotein cholesterol.

An Acute Adverse Reaction with ST Elevation Induced by Magnetic Resonance Contrast Media: Kounis Syndrome.

A 78-year-old man with mild coronary arteriosclerosis on coronary CT angiography underwent MRI of the prostate with the administration of Gadolinium-based contrast agent (GBCA) (gadopentetate dimeglumine). He developed acute coronary syndrome immediately after the intravenous injection of GBCA, and recovered after the administration of nitroglycerine, atropine sulfate, and hydrocortisone. He was discharged on the ninth day of hospitalization without recurrent chest symptoms. This is the second reported case of Kounis syndrome caused by GBCA. Kounis syndrome caused by MR contrast media is rare, but we should recognize that all contrast agents have the potential to cause Kounis syndrome.

Reduced fractional shortening of right ventricular outflow tract is associated with adverse outcomes in patients with left ventricular dysfunction.

BACKGROUND: Recent studies suggest the significance of right ventricular (RV) function in the outcome in patients with left ventricular dysfunction (LVSD); however, global assessment of RV remains to be determined by echocardiogram because of its complex geometry. This study aimed to validate RV outflow tract fractional shortening (RVOT-FS) in the evaluation of RV function and its prognostic value in patients with LVSD. METHODS: This study included eighty-one patients (62 ± 17 years, mean ± SD, male 79%) with reduced LV ejection fraction (LVEF) (≤40%). Two-dimensional echocardiogram of the parasternal short axis view was obtained at the level of the aortic root, and RVOT-FS was calculated as the ratio of end-diastole minus end-systole dimension to end-diastole dimension. RESULTS: RVOT-FS ranged from 0.04 to 0.8 (0.3 ± 0.2, mean ± SD), and correlated with LVEF (r = 0.33, p = 0.0028), RV fractional area change (r = 0.37, p = 0.0008) and brain natriuretic peptide level (r = -0.38, p = 0.0005). In Cox multivariate regression analysis, RVOT-FS [hazard ratio (HR) 0.028, 95% confidence interval (CI): 0.002-0.397]; p = 0.008] and New York Heart Association functional class III-IV [HR 2.233, 95% CI: 1.048-4.761]; p = 0.037] were independent factors to predict the events. During a median follow-up period of 319 days (1 to 1862 days), patients with RVOT-FS ≥ 0.2 showed a higher event-free rate than those < 0.2 by Kaplan-Meier analysis (log-rank test, p = 0.0016). CONCLUSIONS: Our data suggest that RVOT-FS is a simple parameter reflecting the severity of both ventricular function in patients with LVSD. In addition, RVOT-FS might be useful to predict adverse outcomes in such a patient population.

Relation of C-reactive protein to restenosis after coronary stent implantation and to restenosis after coronary atherectomy.

To determine whether the inflammatory response is equally involved in the pathogenesis of restenosis after coronary stenting and directional coronary atherectomy, we assessed restenotic lesions with immunohistochemical methods. Levels of C-reactive protein and macrophages were greater in patients with in-stent restenosis than in those with restenosis after directional coronary atherectomy. This suggests that the inflammatory response is more involved in the pathogenesis of in-stent restenosis than in restenosis after directional coronary atherectomy.