Ailesel Hiperkolesterolemili Çocuk Hastaların Kardiyovasküler Değerlendirilmesi

Abstract

Abdikan, G., Cardiovascular Assessment of Pediatric Patients with Familial Hypercholesterolemia, Hacettepe University Faculty of Medicine, Pediatric Specialization Thesis, Ankara, 2020. Familial hypercholesterolemia is a common autosomal dominant inherited condition. A mutation in the gene encoding the low density lipoprotein receptor, the apolipoprotein B gene, or one of three genes encoding the PCSK9 protein causes familial hypercholesterolemia. These mutations cause lifelong high levels of LDL cholesterol and early onset cardiovascular diseases. If left untreated, heterozygous patients have a significantly increased risk of early onset cardiovascular disease compared to those who do not have the mutations. In our study, it is aimed to contribute to the literature by comparing the cardiovascular status of patients with familial hypercholesterolemia in the pediatric age group followed up in our hospital with age, cholesterol levels and risk factors. In our study, 32 patients between the ages of 5-18 who were followed-up with the diagnosis of familial hypercholesterolemia in Hacettepe University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Metabolism and Nutrition, and Division of Pediatric Cardiology, with total and LDL cholesterol levels above 95th percentile and 35 healthy control group with similar demographic characteristics and normal total and LDL cholesterol levels were included. When the patient group was compared with each other by ECHO, ECG, exercise test and carotid USG, it was observed that 3 patients had moderate mitral regurgitation, 3 patients had aortic regurgitation, 2 patients had aortic stenosis, and 1 patient had aortic stenosis and insufficiency. Interventricular septum and left ventricular posterior Wall thickness, left ventricular volume, and left ventricular mass index (99 ± 25.65 and 70.96 ± 18.12 g / m2, respectively, p = 0.015) in homozygous patients were found to be higher than heterozygous patients. When patients with a blood LDL cholesterol level below 200 mg / dL and those with 200 mg / dL and above were compared, the aortic STJ diameter measurements of patients with high LDL cholesterol levels (16.47 ± 2.58 and 19.65 ± 3, respectively, 20 mm p = 0.030), and IVCT measurements (75.60 ± 3.65 and 70.14 ± 9.72 ms, respectively, p = 0.024) were significantly longer. All global longitudinal strain measurements of homozygous FH patients were found to be lower than heterozygous patients, but only a statistically significant difference was found in GLPS-LAX measurement (15.70 ± 2.40% and 20.31 ± 3.26%, respectively, p = 0.028). Eccentric hypertrophy was detected in 2 patients and concentric remodeling in 3 patients. Ventricular geometry of 27 patients was normal. Exercise test was terminated due to exhaustion before reaching the target heart rate in 2 (28.6%) of 7 patients with homozygous FH and in 3 (12.5%) of 24 patients with heterozygous FH. There was no significant difference between carotid USG measurements. When the patient group and the healthy control group were compared in terms of ECG data, it was found that the P wave dispersion, PR dispersion and QT dispersion measurements of the patient group were significantly higher than the control group. QTc time measurements of the patient group were also significantly longer than the control group (416.96 ± 22.12 and 406.35 ± 17.28 ms, respectively, p = 0.023). As a result; familial hypercholesterolemia is a condition that has adverse effects on the cardiovascular system. Early detection of these patients with FH screening and early initiation of strict blood LDL cholesterol control will positively affect cardiovascular results. These patients should be under cardiology follow-up and ECHO and strain measurements should be done routinely. Thus, subclinical dysfunctions can be detected earlier.