Humans ; Fabry Disease/therapy* ; Hypertrophy, Left Ventricular/diagnosis* ; Diagnosis, Differential

Humans ; Fabry Disease/therapy* ; Hypertrophy, Left Ventricular/diagnosis* ; Diagnosis, Differential

Objective: To assess the clinical features and relative factors of left ventricular hypertrophy (LVH) in children with primary hypertension. Methods: In this retrospective cohort study, 430 children diagnosed with primary hypertension in Children's Hospital, Capital Institute of Pediatrics from January 2019 to September 2022 were enrolled. Their clinical data was analyzed and LVH was assessed by echocardiography. According to left ventricular geometry, these children were assigned to the LVH group and normal geometry group. General conditions, laboratory indicators and ambulatory blood pressure parameters between two groups were compared by independent sample t-test or Mann-Whitney U test. Spearman correlation coefficient was used to analyze the correlation between LVH and clinical indicators including blood pressure, biochemical and metabolic indicators. The independent risk factors of LVH were analyzed by multivariable logistic regression. The receiver operating characteristic (ROC) curve was used to explore the value of risk factors in the diagnosis of LVH. Results: Among the 430 children with primary hypertension, 342 (79.5%) were males and 88 (20.5%) females. Their age was (12.6±2.3) years, and 123 children (28.6%) of them had LVH. Body mass index (BMI) ((30.0±5.2) vs. (26.2±4.3) kg/m²), ratio of stage 2 hypertension (75.6% (93/123) vs. 59.6% (183/307)), 24-hour systolic blood pressure (24 h SBP)((131±10) vs. (128±10) mmHg,1 mmHg=0.133 kPa), daytime systolic blood pressure (SBP) ((135±11) vs. (131±11) mmHg), nighttime SBP ((128±11) vs. (123±10) mmHg), cholesterol level ((4.0±0.7) vs. (3.9±0.7) mmol/L), serum uric acid level ((447±81) vs. (426±91) μmol/L) and incidence of hyperinsulinemia (69.9% (86/123) vs.59.0% (181/307)) were significantly elevated in the LVH group compared with those in the normal geometry group (all P<0.05). There were more patients with a disease course over 5 years in the LVH group than in the normal geometry group, with a statistically significant difference (χ²=8.90,P=0.031). Spearman correlation analysis showed that BMI, 24 h SBP, daytime SBP, nighttime SBP, triglyceride, uric acid, and serum sodium level were positively correlated with LVMI (r=0.43, 0.20, 0.18, 0.18, 0.18, 0.16, and 0.12, all P<0.05). BMI, hyperinsulinemia, and cholesterol level were positively correlated with relative wall thickness (RWT) (r=0.22, 0.12, and 0.16, all P<0.05). The multivariate logistic regression analysis showed that BMI (OR=1.17, 95%CI 1.10-1.25) and 24 h SBP (OR=1.04, 95%CI 1.01-1.08) were the independent risk factors for LVH (both P<0.05). The area under the receiver operator characteristic curve, combined with BMI and 24 h SBP, was 0.72 (95%CI 0.67-0.77, P<0.05), with a sensitivity and specificity of 71.5% and 64.8%, respectively. Conclusions: BMI and 24 h SBP are the independent risk factors for LVH in children with primary hypertension, and the combination of BMI and 24 h SBP has an acceptable diagnostic value for LVH. Early monitoring of these indexes is necessary to predict preclinical cardiac damage.
Male ; Female ; Humans ; Child ; Adolescent ; Hypertension/diagnosis* ; Hypertrophy, Left Ventricular/etiology* ; Uric Acid ; Blood Pressure Monitoring, Ambulatory ; Retrospective Studies ; Blood Pressure/physiology* ; Risk Factors ; Essential Hypertension ; Hyperinsulinism ; Cholesterol

BACKGROUND: This study evaluated factors independently associated with electrocardiographic left ventricular hypertrophy (ECG-LVH) in subjects who were normotensive on clinical measurement and had no prior history of hypertension. METHODS: This cross-sectional study analyzed cases and controls in the Comprehensive Medical Examination Center of Hallym University Sacred Heart Hospital. Eligible case participants presented ECG-LVH according to the Sokolow- Lyon or Cornell criteria, were normotensive on clinical measurement, and had never received a diagnosis of hypertension. The control group comprised subjects with normal sinus rhythm who were normotensive on clinical measurement with no history of hypertension. RESULTS: A multiple logistic regression model showed male sex, age and systolic blood pressure to be positively related to the presence of ECG-LVH. A positive relation of smoking and regular exercise; an inverse relation of pulse rate to the presence of ECG-LVH were found only in men. An inverse relation of uric acid level was found only in women. Detailed analyses of relatively healthy and young men according to whether or not to exercise regularly showed that positive relations of age and systolic blood pressure; an inverse relation of obesity to the presence of ECG-LVH were apparent in the non-regular exercise group but not in the regular exercise group. In the regular exercise group, only pulse rate showed significant (inverse) association with the presence of ECG-LVH. CONCLUSION: The varying risk factor profiles associated with ECG-LVH according to sex and the participation in regular exercise may help to elucidate the ECG-LVH in clinical normotensives with no prior history of hypertension.
Blood Pressure ; Cardiovascular Diseases ; Cross-Sectional Studies ; Diagnosis ; Electrocardiography ; Female ; Heart ; Heart Rate ; Humans ; Hypertension ; Hypertrophy, Left Ventricular ; Logistic Models ; Male ; Obesity ; Risk Factors ; Smoke ; Smoking ; Uric Acid

Resistance to thyroid hormone (RTH) is a condition caused by a mutation in the thyroid hormone receptor gene. It is rarely reported in individuals with no family history of RTH or in premature infants, and its clinical presentation varies. In our case, a premature infant with no family history of thyroid diseases had a thyroid stimulating hormone level of 85.0 µIU/mL and free thyroxine level of 1.64 ng/dL on a thyroid function test. The patient also presented with clinical signs of hypothyroidism, including difficulties in feeding and weight gain. The patient was treated with levothyroxine; however, only free thyroxine and triiodothyronine levels increased without a decrease in thyroid-stimulating hormone levels. Taken together with thyroid gland hypertrophy observed on a previous ultrasound examination, RTH was suspected and the diagnosis was eventually made based on a genetic test. A de novo mutation in the thyroid hormone receptor β gene in the infant was found that has not been previously reported. Other symptoms included tachycardia and pulmonary hypertension, but gradual improvement in the symptoms was observed after liothyronine administration. This report describes a case involving a premature infant with RTH and a de novo mutation, with no family history of thyroid disease.
Diagnosis ; Goiter ; Humans ; Hypertension, Pulmonary ; Hypertrophy ; Hypothyroidism ; Infant ; Infant, Newborn ; Infant, Premature ; Receptors, Thyroid Hormone ; Tachycardia ; Thyroid Diseases ; Thyroid Function Tests ; Thyroid Gland ; Thyroid Hormone Receptors beta ; Thyroid Hormone Resistance Syndrome ; Thyrotropin ; Thyroxine ; Triiodothyronine ; Ultrasonography ; Weight Gain

BACKGROUND: Fabry disease is an X-linked recessive disorder caused by deficiency of the lysosomal enzyme α-galactosidase A (α-Gal A). Previous studies identified many cases of Fabry disease among men with left ventricular hypertrophy (LVH). The purpose of this study was to define the frequency of Fabry disease among Korean men with LVH. METHODS: In this national prospective multicenter study, we screened Fabry disease in men with LVH on echocardiography. The criterion for LVH diagnosis was a maximum LV wall thickness 13 mm or greater. We screened 988 men with LVH for plasma α-Gal A activity. In patients with low α-Gal A activity (< 3 nmol/hr/mL), we searched for mutations in the α-galactosidase gene. RESULTS: In seven men, α-Gal A activity was low. Three had previously identified mutations; Gly328Arg, Arg301Gln, and His46Arg. Two unrelated men had the E66Q variant associated with functional polymorphism. In two patients, we did not detect GLA mutations, although α-Gal A activity was low on repeated assessment. CONCLUSION: We identified three patients (0.3%) with Fabry disease among unselected Korean men with LVH. Although the prevalence of Fabry disease was low in our study, early treatment of Fabry disease can result in a good prognosis. Therefore, in men with unexplained LVH, differential diagnosis of Fabry disease should be considered.
Diagnosis ; Diagnosis, Differential ; Echocardiography ; Fabry Disease ; Humans ; Hypertrophy, Left Ventricular ; Male ; Plasma ; Prevalence ; Prognosis ; Prospective Studies

Congenital esophageal stenosis (CES) is a rare disease that has been reported to occur once in every 25,000 to 50,000 births. According to its etiology, CES is divided into 3 subtypes, tracheobronchial remnants (TBR), fibromuscular hypertrophy (FMH) and membranous diaphragm (MD). Symptoms begin at the weaning period and the introduction of solid food around 6 months with dysphagia and vomiting. Esophagography is first screening test and endoscopic ultrasonography plays important roles to diagnose subtypes deciding therapeutic plan. TBRs were generally treated with surgical resection and end-to-end anasotomosis, whereas FMH and MD had good response rate to endoscopic or radiologic guided dilatation. This article reviews the literature on the etiology, clinical course, diagnosis and management of CES including recent opinion.
Child ; Deglutition Disorders ; Diagnosis ; Diaphragm ; Dilatation ; Endosonography ; Esophageal Stenosis ; Esophagus ; Humans ; Hypertrophy ; Mass Screening ; Parturition ; Prognosis ; Rare Diseases ; Vomiting ; Weaning

PURPOSE: Obstructive sleep apnea syndrome (OSAS) in young children is frequently caused by adenoid and/or tonsillar hypertrophy. Adenoidectomy is the first operative method for childhood chronic rhinosinusitis (CRS). We investigated factors associated with recurrent rhinosinusitis in preschool aged children with OSAS to determine the association of 2 common diseases. METHODS: One hundred forty-six children aged 2–5 years who were diagnosed as having OSAS after polysomnography between December 2003 and April 2016 were enrolled in this study. Children were divided into 2 groups with and without CRS. The 2 groups were compared in the severity of OSAS and allergy diseases and were evaluated for recurrent rhinosinusitis during the follow-up period, 1 year after diagnosis. RESULTS: Among 108 patients with OSAS who were followed up, 81 patients (75%) were diagnosed with CRS. There were no significant difference clinical and allergic characteristics between groups with and without CRS. However, bronchial asthma and otitis media was significantly more prevalent in patients with CRS than in those without (P=0.045 and P=0.000, respectively). Bronchial asthma and adenotonsillectomy was significantly associated with recurrent rhinosinusitis (P=0.005 and P=0.04, respectively) during the 1-year follow-up. CONCLUSION: Approximately 75% of preschool children with OSAS have suffered from CRS. Bronchial asthma is associated with CRS among OSAS children. Recurrent rhinosinusitis is decreased after adenotonsillectomy, and bronchial asthma is an associated factor for recurrent rhinosinusitis after a follow-up. This close relationship childhood OSAS and recurrent rhinosinusitis/bronchial asthma needs further studies to investigate their role in the association.
Adenoidectomy ; Adenoids ; Asthma ; Child ; Child, Preschool* ; Diagnosis ; Follow-Up Studies ; Humans ; Hypersensitivity ; Hypertrophy ; Methods ; Otitis Media ; Polysomnography ; Rhinitis ; Sinusitis ; Sleep Apnea, Obstructive*

STUDY DESIGN: Case report. OBJECTIVES: We report the case of a patient with C2 spondylotic radiculopathy who was treated by microscopic posterior foraminotomy. SUMMARY OF LITERATURE REVIEW: C2 spondylotic radiculopathy is rare, but it can occur due to spondylosis, compression by a venous plexus or vertebral artery, or hypertrophy of the atlantoepistrophic ligament. MATERIALS AND METHODS: A 64-year-old woman was hospitalized with severe occipital pain radiating toward the left cervical area and posterior to the left ear. It started 3 years previously, and became aggravated 3 months previously. Foraminal stenosis of C1-2 was observed on magnetic resonance imaging (MRI) and degenerative changes of the facet joint of C1-2 and osteophytes originating from the left atlantoaxial joint were shown on computed tomography (CT). Dynamic rotational CT showed narrowing of the left C1-2 neural foramen when it was rotated to the left. Selective C2 root block was done, but the pain was aggravated. Thus, we decompressed the C2 nerve root by microscopic posterior laminotomy of the C1 vertebra. After surgery, the patient's occipitocervical pain mostly resolved. By the 6-month follow up, pain had not recurred, and instability was not observed on plain radiographs. RESULTS: C2 Spondylotic radiculopathy was diagnosed by physical examination and imaging studies and it was treated by a surgical approach. CONCLUSIONS: C2 spondylotic radiculopathy should be considered when a patient complains of occipitocervical pain triggered by cervical rotation and C1-2 foraminal stenosis is observed on MRI and CT.
Atlanto-Axial Joint ; Constriction, Pathologic ; Diagnosis ; Ear ; Female ; Follow-Up Studies ; Foraminotomy ; Humans ; Hypertrophy ; Laminectomy ; Ligaments ; Magnetic Resonance Imaging ; Middle Aged ; Osteophyte ; Physical Examination ; Radiculopathy ; Spine ; Spondylosis ; Vertebral Artery ; Zygapophyseal Joint

The ST segment corresponds to the plateau phase of ventricular repolarization, i.e., phase 2 of the action potential. Heightened awareness of the characteristic patterns of ST segment changes is vital to quickly identifying life-threatening disorders. The differential diagnosis of ST segment elevation includes four major processes: ST segment elevation myocardial infarction (STEMI); early repolarization; pericarditis; and ST elevation secondary to an abnormality of the QRS complex (left bundle branch block, left ventricular hypertrophy, or preexcitation). Other processes that may be associated with ST elevation include hyperkalemia, pulmonary embolism, and Brugada syndrome. Two particular patterns of ST segment depression reflect STEMI rather than non-ST-segment elevation acute coronary syndrome: ST segment depression that is reciprocal to a subtle and sometimes overlooked ST-segment elevation, and ST segment depression that is maximal in leads V₁-V₃, suggesting true posterior infarction. The clinical setting and specific electrocardiographic criteria often allow identification of the cause.
Action Potentials ; Acute Coronary Syndrome ; Brugada Syndrome ; Bundle-Branch Block ; Depression ; Diagnosis, Differential ; Electrocardiography ; Hyperkalemia ; Hypertrophy, Left Ventricular ; Infarction ; Myocardial Infarction ; Pericarditis ; Pulmonary Embolism