The Impact of Syndromic Genetic Disorders on Medical Management and Mortality in Pediatric Hypertrophic Cardiomyopathy Patients

AbstractHypertrophic cardiomyopathy (HCM) is a prevalent cardiomyopathy in children, with variable etiologies, phenotypes, and associated syndromic genetic disorders (GD). The spectrum of evaluation in this heterogeneous population has not been well described. We aimed to describe mortality and medical management in the pediatric HCM population, and compare HCM pediatric patients with GD to those without GD. Children (
Source: Pediatric Cardiology - Category: Cardiology Source Type: research

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Dilated Cardiomyopathy Mutations in Thin Filament Regulatory Proteins Reduce Contractility, Suppress Systolic Ca2+ &Activate NFAT &AKT Signalling. Am J Physiol Heart Circ Physiol. 2020 Jul 03;: Authors: Robinson P, Sparrow AJ, Patel S, Malinowska M, Reilly SN, Zhang YH, Casadei B, Watkins H, Redwood C Abstract Dilated cardiomyopathy (DCM) is clinically characterised by dilated ventricular cavities and reduced ejection fraction, leading to heart failure and increased thromboembolic risk. Mutations in thin filament regulatory proteins can cause DCM and have been shown in vitro to reduce contract...
Source: American Journal of Physiology. Heart and Circulatory Physiology - Category: Physiology Authors: Tags: Am J Physiol Heart Circ Physiol Source Type: research
Abstract BACKGROUND: Chronic valvular heart disease leads to systolic dysfunction and left atrial enlargement that ultimately results in heart failure. PURPOSE: To investigate prognostic importance of Echocardiography and plasma natriuretic peptide levels that increase as a compensatory response and can be used as predictive markers for cardiac hypertrophy. MATERIAL AND METHODS: The patients were divided into three groups: 51 with left ventricle hypertrophy due to aortic valve disease; 126 with left atrial enlargement due to mitral valve dysfunction; and 76 with both conditions. Atrial natriuretic peptid...
Source: Acta Radiologica - Category: Radiology Authors: Tags: Acta Radiol Source Type: research
In this study we aimed to evaluate management strategies in our pediatric cardiac transplantation candidates with PH and high PVR prior to OHT. METHOD: Twenty-six cardiac transplantation candidates (age: 10.2 ± 4.6, 1-17 years) underwent cardiac catheterization for the determination of PVR and pulmonary arterial pressure. They were admitted to the hospital and received 1-3 days of intravenous (IV) vasodilator therapy; 0.5-3 μg/kg/min nitroglyserin and/or 0.5-3 μg/kg/min nitroprusside, 5-15 μg/kg/min dobutamin and/or dopamin to keep systolic blood pressure above 80 mmHg. RESULTS: Thirteen patients ...
Source: The Turkish Journal of Pediatrics - Category: Pediatrics Authors: Tags: Turk J Pediatr Source Type: research
AbstractSudden cardiac death (SCD) is a pivotal health problem worldwide. The identification of subjects at increased risk of SCD is crucial for the accurate selection of candidates for implantable cardioverter defibrillator (ICD) therapy. Current strategies for arrhythmic stratification largely rely on left ventricular (LV) ejection fraction (EF), mostly measured by echocardiography, and New York Heart Association functional status for heart failure with reduced EF. For specific diseases, such as hypertrophic and arrhythmogenic cardiomyopathy, some risk scores have been proposed; however, these scores take into account so...
Source: Heart Failure Reviews - Category: Cardiology Source Type: research
Conclusions: These data reveal a critical role of SAP97 in maintaining the integrity of cardiac β1AR signaling and a detrimental cardiac GRK5-CaMKII axis that can be potentially targeted in heart failure therapy. PMID: 32507058 [PubMed - as supplied by publisher]
Source: Circulation Research - Category: Cardiology Authors: Tags: Circ Res Source Type: research
A mitral L-wave indicates advanced diastolic dysfunction with elevated left ventricular filling pressure. Previous studies have reported that the presence of a mitral L-wave is associated with a poor prognosis in patients with heart failure. However, whether the L-wave can predict adverse events in patients with hypertrophic cardiomyopathy (HC) is still unclear. Therefore, we aimed to investigate the prevalence of a mitral L-wave in patients with HC, and the prognosis of patients with or without an L-wave.
Source: The American Journal of Cardiology - Category: Cardiology Authors: Source Type: research
CONCLUSION: The results of our study show that similar to many centers, the etiology of HCM is often uncertain. In the absence of etiology, treatment aimed at the cause is either impossible or, at best, empirical. PMID: 32419413 [PubMed - in process]
Source: The Turkish Journal of Pediatrics - Category: Pediatrics Authors: Tags: Turk J Pediatr Source Type: research
Conclusions BBs differ within the class in so many ways that it is not only logical but also practical for real-life clinical practice that experts in the field make a list of the compelling indications for individual BBs. Time has come to incorporate our knowledge about BBs into a new approach of presenting these useful and very individual drugs. PMID: 32418526 [PubMed - as supplied by publisher]
Source: Current Vascular Pharmacology - Category: Drugs & Pharmacology Authors: Tags: Curr Vasc Pharmacol Source Type: research
Abstract BACKGROUND: Although elevated B-type natriuretic peptide (BNP) levels predict outcome in patients with hypertrophic cardiomyopathy (HCM), the association between BNP levels and outcome in patients with the apical phenotype of HCM remains unclear. We evaluated the impact of elevated BNP levels on outcome in a cohort of apical HCM patients. METHODS: Among 432 HCM patients, 144 with an apical phenotype were examined. Plasma BNP levels were measured at the time of the initial evaluation. RESULTS: The median (interquartile range) BNP level at initial evaluation in these patients was 188.5 (72.0-334.4...
Source: Journal of Cardiology - Category: Cardiology Authors: Tags: J Cardiol Source Type: research
This study aims to develop a mapping algorithm between the MLHFQ and the Assessment of Quality of Life (AQoL) 8D utility instrument in patients with dilated cardiomyopathy (DCM).MethodsMLHFQ and AQoL-8D data were collected on 61 Australian adults with idiopathic DCM or other non-hypertrophic cardiomyopathies. Three statistical methods were used as follows: ordinary least squares (OLS) regression, the robust MM estimator, and the generalised linear models (GLM). Each included a range of explanatory variables. Model performance was assessed using key goodness-of-fit measures, the mean absolute error (MAE), and the root-mean-...
Source: Quality of Life Research - Category: Health Management Source Type: research
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