Abstract
Objective To evaluate the features of myocardial perfusion imaging (MPI) in patients with homozygous familial hypercholesterolemia (HoFH) and its influence factors. Methods Forty-two consecutive HoFH patients (21 males, 21 females; average age: (14.8±8.4) years) were retrospectively enrolled in this study from June 2010 to November 2016. Diagnosis was proved by clinical and chromosome tests, and all patients underwent ATP stress and rest 99Tcm-methoxyisobutylisonitrile (MIBI) SPECT MPI with a two-day protocol. Summed stress score (SSS) and summed rest score (SRS) were acquired, and summed difference score (SDS; SSS-SRS) was calculated. Relations between SSS, SRS, SDS and age, lipid profile were analyzed. Two-sample t test, χ2 test, multiple linear regression analysis and multivariate logistic regression were used to analyze the data. Results There were 24 patients with positive MPI results (SSS≥1), and females (76.2%, 16/21) showed more positive MPI results than males (38.1%, 8/21; χ2=6.22, P 0.05). Positive electrocardiograph (ECG) in ATP stress test was observed in 9 females (42.9%, 9/21) and 3 males (14.3%, 3/21; χ2=4.20, P<0.05). Sixty-three (8.8%, 63/714) abnormal myocardial perfusion segments (SSS≥1) were found, which was mainly (60.3%, 38/63) distributed in myocardial regions supplied by left anterior descending branch (LAD). SSS was positively correlated with age and high density lipoprotein cholesterol (HDLC). SRS, SDS were positively correlated with HDLC and age respectively. Multivariate logistic regression analysis indicated that the female was the only independent risk factor to predict positive MPI (odds ratio=5.2, 95% CI: 1.363-19.774). Conclusions In HoFH patients, abnormal myocardial perfusion had a rising trend with age increasing. Female patients are more likely to have abnormal MPI. Abnormal myocardial perfusion segments are mainly located in myocardial regions supplied by LAD. Age and gender are influence factors of abnormal MPI in HoFH patients. Key words: Hyperlipoproteinemia type Ⅱ; Homozygote; Myocardial perfusion imaging; Tomography, emission-computed, single-photon; Technetium Tc 99m sestamibi
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