Exome sequencing implicates ancestry-related Mendelian variation at SYNE1 in childhood-onset essential hypertension.

Childhood-onset essential hypertension (COEH) is an uncommon form of hypertension that manifests in childhood or adolescence and, in the United States, disproportionately affects children of African ancestry. The etiology of COEH is unknown, but its childhood onset, low prevalence, high heritability, and skewed ancestral demography suggest the potential to identify rare genetic variation segregating in a Mendelian manner among affected individuals and thereby implicate genes important to disease pathogenesis. However, no COEH genes have been reported to date.

Point-of-Care Ultrasound in Sternal Notch Confirms Depth of Endotracheal Tube in Children.

Objectives: To determine if a saline-filled cuff seen at the suprasternal notch on ultrasound corresponds to correct endotracheal tube depth on a chest radiograph (tip at/below clavicle AND ≥ 1 cm above carina).

Design: Prospective observational study.

Setting: Tertiary Care Pediatric hospital.

Effect of Intravenous Phenobarbital on Left Ventricular Myocardial Contractility Determined by Echocardiography in Children.

Introduction: Animal studies and rare human studies have suggested a negative effect of barbiturates on cardiac function. Although intravenous (IV) phenobarbital is used routinely in children in the clinical setting, studies in children are lacking. We performed a study to evaluate effect of IV phenobarbital loading on myocardial systolic function of children.

A Primer on Multimodal Imaging and Cardiology-Radiology Congenital Heart Interface.

Pediatric cardiology imaging laboratories in the present day have several modalities for imaging of congenital and acquired cardiovascular disease. These modalities include echocardiography, cardiovascular magnetic resonance imaging, cardiac computed tomography and nuclear imaging. The utility and limitations of multimodal imaging is described herein along with a framework for establishing a cardiology-radiology interface.

Epidemiology of Childhood Onset Essential Hypertension.

The knowledge of epidemiology of a disease is paramount in identifying preventive measures. Currently there is a paucity of literature on the epidemiologic determinants of childhood onset essential hypertension (EH). We evaluated children with EH, ascertained in a rigorous manner, in a large multiethnic population in a tertiary pediatric hypertension clinic.

Familial aggregation of first degree relatives of children with essential hypertension.

Purpose: Determining familial aggregation is an important first step in narrowing the search for disease-causing genes and hence we determined the familial aggregation of EH among first degree relatives of children with EH.

Materials And Methods: We prospectively enrolled children with EH along with their first degree relatives from a tertiary pediatric hypertension clinic in a large ambulatory care center. We utilized rigorous methodology for blood pressure (BP) measurements and diagnoses of EH to reduce the heterogeneity in the phenotype.

Whole-exome sequencing reveals an inherited R566X mutation of the epithelial sodium channel β-subunit in a case of early-onset phenotype of Liddle syndrome.

To comprehensively evaluate a European-American child with severe hypertension, whole-exome sequencing (WES) was performed on the child and parents, which identified causal variation of the proband's early-onset disease. The proband's hypertension was resistant to treatment, requiring a multiple drug regimen including amiloride, spironolactone, and hydrochlorothiazide. We suspected a monogenic form of hypertension because of the persistent hypokalemia with low plasma levels of renin and aldosterone.

Blood pressure percentile charts to identify high or low blood pressure in children.

Background: The goal was to develop familiar blood pressure (BP) charts representing BP percentile curves similar to CDC growth charts to improve screening of both high and low BP in children.

Methods: Since height accounts for substantially more BP variability than age and is a more direct measure of body size and maturation in children, height-specific BP percentile curves were drawn separately for males and females. We used the 2004 Fourth Report data source and equations to calculate the BP threshold value for each gender and 5 cm height group.

Childhood-Onset Essential Hypertension and the Family Structure.

The prevalence and effect of single-parent families in childhood-onset essential hypertension (EH) is unknown. Children with EH and age-, sex-, and ethnicity-matched controls were enrolled. Family structure data were obtained by in-person interview.

Left Ventricular Hypertrophy Phenotype in Childhood-Onset Essential Hypertension.

The aim of this study was to determine the risk factors associated with left ventricular (LV) hypertrophy (LVH) among 89 untreated children with primary hypertension. Clinic hypertension was confirmed by 24-hour ambulatory blood pressure (BP) monitoring. LV mass (LVM) index was calculated as LVM (g)/height (m)(2.

Myocardial Performance Index in Childhood Onset Essential Hypertension and White Coat Hypertension.

Background: As a global measure of ventricular systolic and diastolic function, the myocardial performance index (MPI) can be an early indicator of hypertensive cardiomyopathy in children with essential hypertension (EH).

Methods: Children with untreated newly diagnosed EH and white coat hypertension (WCH) by a 24-hour ambulatory blood pressure monitoring (ABPM), both groups without any identifiable etiology for the hypertension, were enrolled for the study. Echocardiograms and vascular ultrasounds for carotid artery intimal medial thickness were performed on all children prior to therapy.

Immunoglobulin Resistance in Kawasaki Disease.

The aim of this study was to identify risk factors for immunoglobulin resistance, including clinical symptoms such as arthritis and the pH of intravenous immunoglobulin. The data of children with Kawasaki disease who had received immunoglobulin were evaluated. Data regarding the brand of immunoglobulin administered were abstracted from the pharmacy records.

Characteristics of systemic hypertension in preterm children.

The prevalence of essential hypertension (EH) among preterm children is unknown. The authors evaluated consecutive children with a diagnosis of hypertension and prematurity (gestational age <37 weeks) in a tertiary pediatric hypertension clinic and identified 36 preterm hypertensive children. Among these preterm children, 23 were diagnosed in the neonatal intensive care unit (NICU; infantile) and 13 were diagnosed at an older age (childhood).

Essential hypertension vs. secondary hypertension among children.

Background: The aim was to determine the proportions and correlates of essential hypertension among children in a tertiary pediatric hypertension clinic.

Methods: We evaluated 423 consecutive children and collected demographic and clinical history by retrospective chart review.

Results: We identified 275 (65%) hypertensive children (blood pressure >95th percentile per the "Fourth Report on the Diagnosis, Evaluation, and Treatment of High Blood Pressure in Children and Adolescents") from 423 children referred to the clinic for history of elevated blood pressure.

Detection of early diastolic alterations by tissue Doppler imaging in untreated childhood-onset essential hypertension.

The aim of the study was to determine the presence of preclinical diastolic dysfunction in hypertensive children relative to normotensive children by Tissue Doppler Imaging (TDI). We prospectively enrolled children with untreated essential hypertension in absence of any other disease and a matched healthy control group with normal blood pressure (BP); both groups confirmed by clinic BP and a 24-hour ambulatory BP monitoring. Echocardiographic diastolic parameters were determined using spectral transmitral inflow Doppler, flow propagation velocity, TDI, and systolic parameters were determined via midwall shortening fraction and ejection fraction.

Aortic dilatation in children with systemic hypertension.

The aim of the study was to determine the presence of aortic dilatation in hypertensive children, the prevalence of which is 4% to 10% in hypertensive adults. Prospectively enrolled multiethnic children, untreated for their hypertension, underwent an echocardiogram to exclude congenital heart disease and evaluate for end-organ damage and aortic size. The aorta was measured in the parasternal long-axis view at three levels: the sinus of Valsalva, supra-tubular junction, and the ascending aorta.

Systemic hypertension requiring treatment in the neonatal intensive care unit.

Objectives: To determine the difference in the risk factors for systemic hypertension in preterm and term infants in the neonatal intensive care unit (NICU).

Study Design: Data were collected from an existing database of NICU children and confirmed by chart review. Systemic hypertension was defined when 3 separate measurements of systolic and/or diastolic blood pressure were >95th percentile and an antihypertensive medication was administered for >2 weeks in the NICU.

Descriptive epidemiology of non-syndromic complete atrioventricular canal defects.

Background: Complete atrioventricular canal defects (CAVC) are a common heart defect, but few epidemiologic studies have evaluated non-syndromic CAVC. Risk factors for non-syndromic CAVC have not been well established.

Methods: To assess the relationship between risk for non-syndromic CAVC in offspring and several sociodemographic and reproductive parental factors, including maternal diabetes and obesity, we conducted Poisson regression analyses, using data ascertained through the Texas Birth Defects Registry, a large, population-based birth defects registry.

Sudden unexplained cardiac arrest in apparently healthy children: a single-center experience.

This study aimed to determine the causes of sudden cardiac arrest (SCA) in apparently healthy children at a single center in the era of primary prevention (screening questionnaire [SQ]) and secondary prevention (automated external defibrillator [AED] and the automated implantable cardioverter defibrillator [AICD]). Any child 0 to 18 years of age without prior known disease, except for attention deficit disorder, who underwent out-of-the hospital cardiopulmonary resuscitation was included in the study as a SCA subject. A retrospective chart review was used to evaluate the efficacy of the SQ, electrocardiogram (ECG), chest roentgenogram (CXR), and echocardiogram.

Cardiac troponin I after cardiopulmonary bypass in infants in comparison with older children.

Objective: At the present time, there is a trend towards performing open heart surgery at a younger age. Myocardium of infants has been thought to be more vulnerable to cardiopulmonary bypass in comparison with adults. For this study, we evaluated the degree of myocardial injury by measurement of cardiac troponin levels in infants in comparison with older children for similar surgeries.

Deterioration of cutaneous microcirculatory status of Kawasaki disease.

Kawasaki disease (KD) is associated with generalized vasculitis with a predilection for coronary artery leading to ectasia and aneurysm in some cases. The aim of this study was to noninvasively assess the cutaneous microcirculation and correlate it with the coronary artery diameter in these patients. Laser Doppler flowmetry and dynamic capillaroscopy were performed at the nailbeds to assess total cutaneous blood flow and microcirculation in children with KD, both in the afebrile phase (after the resolution of fever) and convalescent phases, in comparison to controls.

An approach to imaging adult congenital heart disease: pitfalls and pearls.

Noninvasive cardiovascular evaluation of an adult congenital heart disease (ACHD) patient is a multimodality endeavor that can include chest roentgenograms, electrocardiograms, echocardiography (including stress, three-dimensional, intravascular and intracardiac ultrasound, and transesophageal), cardiac magnetic resonance imaging (CMR), computed tomography angiography (CTA), single photon emission computed tomographic (SPECT) perfusion imaging, and positron emission tomography (PET). The cost-benefit ratio and limitations of each modality should always be considered (Table 1). Adults with ACHD often need repetitive imaging, making them vulnerable to radiation-induced cancer; hence, modalities using ionizing radiation should be minimized.

Acute-phase reactants and a supplemental diagnostic aid for Kawasaki disease.

The diagnosis of acute Kawasaki disease (KD) is based on characteristic clinical signs and not on a specific diagnostic test. The authors performed a comprehensive evaluation of acute-phase reactants in KD to determine which of the acute-phase reactants would most accurately distinguish KD from other febrile illnesses. Blood was collected from 218 cases of febrile children with KD (64 cases); bacterial pneumonia (74 cases); hand, foot, and mouth disease (31 cases); and upper respiratory tract infection (49 cases) in acute-stage illness before any therapy.

Early pleural effusions related to the myocardial injury after open-heart surgery for congenital heart disease.

Objectives: The degree of effusion immediately after cardiopulmonary bypass (CPB) can vary and may reflect several factors including the degree of myocardial injury. We compared the degree of pleural effusions after CPB to the overall myocardial injury as determined by serum cardiac troponin I (cTnI) levels after elective repair of a variety of congenital heart defects, including univentricular surgeries via cavopulmonary shunts.

Methods: Serum was collected pre-CPB, post-CPB, and daily after that and cTnI level measured.