Evaluation of clinical and genetic features associated with left ventricle hypertrophy in child patients with hypertension

Objectives: Hypertension is one of the diseases frequently encountered in childhood. With the early diagnosis and treatment of hypertension, end-organ damage can be prevented to a great extent. One of the important end-organ damage is left ventricular hypertrophy and left ventricular diastolic failure. There are many genetic etiologies that have been identified and are still being studied in the etiology of essential hypertension. By elucidating the etiology of essential hypertension, it is possible to develop treatment methods directed directly to the cause in the future. In this study, it was aimed to clarify the genetic background of patients followed up with essential hypertension and to examine the relationship between genetic variant and left ventricular hypertrophy. Design and Methods: 80 patients who were followed up with a diagnosis of essential hypertension in childhood and 66 control groups with no known disease or hypertension were included in the study. DNA was isolated from the blood of the patients and the rs1042713 variant was examined. During the outpatient clinic appointments, the patients' systolic and diastolic functions were examined by echocardiography and their left ventricular masses were calculated. Apart from these, clinical data of the patients such as height, weight, BMI, age and gender were also recorded. Results: 80 patients diagnosed with essential hypertension and 66 healthy controls were included in the study. 66.3% of the patient group is male and 65.2% of the control group is male. A statistically significant difference was found between the BMI values of the patient and control groups, being higher in the patient group (p<0.001). When evaluated in terms of the Rs1042713 variant, the patient group resulted as 10% Homozygous wt, 50% Heterozygous and 40% Homozygous mutant. The control group was found to be 25.7% homozygous wt, 50% heterozygous and 24.24% homozygous mutant. A significant difference was observed between the patient group and the control group according to genotype distribution (p = 0.019), dominant model (p = 0.012) and allele frequency (p = 0.019). No significant results were observed in the comparison of gender and variant in the patient group and control group. (p=0.97; p= 0.39) When the study group and the presence of variants were compared in the male subgroup, fewer variants were observed in the male group in the healthy group according to genotype distribution (p = 0.026), dominant model (0.035) and allele frequency (p = 0.009). No significant difference was observed in the female subgroup. (p=0.286) A significant correlation was observed in the relationship between LVH and variants according to genotype distribution (p = 0.025) and allele frequency (p = 0.017). No correlation was detected in dominant modeling. (p=0.299) No significant correlation was found according to genotype distribution, dominant model and allele frequency in terms of weight and presence of variants. (p=0.264; p=0.083; p=0.673) No significant relationship was found in terms of DDF and variant presence according to genotype distribution, dominant model and allele frequency. (p=0.412; p=0.267; p=0.702) No relationship was found between DDF and LVH. (p=0.412) In the echocardiography data of the patient and control groups, IVSd and LVPWd were observed to be thicker in the patient group. (p=0.001; p=0.001) IVSE and IVSA rates are lower in the patient group. (p=0.019; p=0.028) Conclusions: We found a significant relationship between rs1042713 variant and Essential Hypertension in our study group. We found a significant relationship between SVH and the rs1042713 variant according to genotype distribution and allele frequency distribution. We found no association between DDF and the rs1042713 variant. These results suggest that the rs1042713 variant is associated with essential hypertension in childhood. These findings should be supported by new studies. Patients with hypertension should be followed with echocardiography to evaluate systolic and diastolic functions and to monitor endorgan damage. Keywords: Essential hypertension, Rs1042713, Left Ventricular Hypertrophy, Diastolic Dysfunction