Spatial QRS-T angle can indicate presence of myocardial fibrosis in pediatric and young adult patients with hypertrophic cardiomyopathy.

Background: Myocardial fibrosis, expressed as late gadolinium enhancement (LGE) on cardiac magnetic resonance imaging (CMR), is an important risk factor for malignant cardiac events in hypertrophic cardiomyopathy (HCM). However, CMR is not easily available, expensive, also needing intravenous access and contrast.

Objective: To determine if derived vectorcardiographic spatial QRS-T angles, an aspect of advanced ECG (A-ECG), can indicate LGE to appropriately prioritize young HCM-patients for CMR.

Biomarkers and Proteomics in Sarcomeric Hypertrophic Cardiomyopathy in the Young-FGF-21 Highly Associated with Overt Disease.

Any difference in biomarkers between genotype-positive individuals with overt hypertrophic cardiomyopathy (HCM), and genotype-positive but phenotype-negative individuals (G+P-) in HCM-associated pathways might shed light on pathophysiological mechanisms. We studied this in young HCM patients. 29 HCM patients, 17 G+P--individuals, and age- and sex-matched controls were prospectively included.

Screening for Critical Congenital Heart Defects in Sweden.

Objectives: Early diagnosis of critical congenital heart defects (CCHD) improves survival. We evaluated the relative contributions of prenatal ultrasound, neonatal pulse oximetry screening (POS), and neonatal physical examination (NPE) to the early detection (before discharge) of CCHD in the context of increasing prenatal detection, and POS being a national standard since 2013.

Methods: Retrospective, nationwide population-based study.

Indications and management of implantable cardioverter-defibrillator therapy in childhood hypertrophic cardiomyopathy.

Sudden cardiac death is the most common mode of death during childhood and adolescence in hypertrophic cardiomyopathy, and identifying those individuals at highest risk is a major aspect of clinical care. The mainstay of preventative therapy is the implantable cardioverter-defibrillator, which has been shown to be effective at terminating malignant ventricular arrhythmias in children with hypertrophic cardiomyopathy but can be associated with substantial morbidity. Accurate identification of those children at highest risk who would benefit most from implantable cardioverter-defibrillator implantation while minimising the risk of complications is, therefore, essential.

What Aspects of Phenotype Determine Risk for Sudden Cardiac Death in Pediatric Hypertrophic Cardiomyopathy?

Sudden cardiac death due to hypertrophic cardiomyopathy (HCM), is the most common autopsy-proven cause of unexpected medical death in children after infancy. This mode of death is preventable by implantation of an internal cardiac defibrillator (ICD), a procedure that has considerable morbidity in childhood patients, and even mortality. Since HCM is an inheritable disease (usually autosomal dominant, occasionally recessive), family screening may identify subjects at risk.

Factors associated with excess female mortality in obstructive hypertrophic cardiomyopathy.

Background: Several studies have reported excess female mortality in patients with hypertrophic cardiomyopathy, but the cause is unknown.

Aims: To compare risk-factors for disease-related death in both sexes in a geographical cohort of patients with obstructive hypertrophic cardiomyopathy (oHCM).

Methods And Results: Data-bases in all ten hospitals within West Götaland Region yielded 250 oHCM-patients (123 females, 127 males).

Management of growth failure and other endocrine aspects in patients with Noonan syndrome across Europe: A sub-analysis of a European clinical practice survey.

Aim: To date, there is a lack of international guidelines regarding the management of the endocrine features of individuals with Noonan syndrome (NS). The aim was to develop a clinical practice survey to gather information on current treatment and management of these patients across Europe.

Materials And Methods: A group of 10 experts from three clinical specialities involved in the management of NS patients (clinical geneticists, paediatric endocrinologists, and paediatric cardiologists) developed a 60-question clinical practice survey.

European Medical Education Initiative on Noonan syndrome: A clinical practice survey assessing the diagnosis and clinical management of individuals with Noonan syndrome across Europe.

Introduction: Noonan syndrome (NS) is a rare genetic disorder caused by mutations in genes encoding components of the RAS/mitogen-activated protein kinase (MAPK) signalling pathway. Patients with NS exhibit certain characteristic features, including cardiac defects, short stature, distinctive facial appearance, skeletal abnormalities, cognitive deficits, and predisposition to certain cancers. Here, a clinical practice survey was developed to learn more about differences in the diagnosis and management of this disease across Europe.

Management of cardiac aspects in children with Noonan syndrome - results from a European clinical practice survey among paediatric cardiologists.

Background: The majority of children with Noonan syndrome (NS) or other diseases from the RASopathy spectrum suffer from congenital heart disease. This study aims to survey cardiac care of this patient cohort within Europe.

Methods: A cross-sectional exploratory survey assessing the treatment and management of patients with NS by paediatric endocrinologists, cardiologists and clinical geneticists was developed.

Sudden cardiac death in childhood hypertrophic cardiomyopathy is best predicted by a combination of electrocardiogram risk-score and HCMRisk-Kids score.

Aim: To compare risk algorithms (HCMRisk-Kids, ECG Risk-score) in hypertrophic cardiomyopathy (HCM) without syndrome association (ns-HCM) and with Noonan-like syndromes (RAS-HCM).

Methods: A national paediatric HCM cohort (n = 151), presenting <19 years of age, mean follow-up 13.3 years, from all Swedish centres of Paediatric Cardiology (presenting 1972-2015), with 41 RAS-HCM patients (61% males), and 110 ns-HCM patients (68% familial; 65% males).

High ECG Risk-Scores Predict Late Gadolinium Enhancement on Magnetic Resonance Imaging in HCM in the Young.

An ECG risk-score has been described that predicts high risk of subsequent cardiac arrest in young patients with hypertrophic cardiomyopathy (HCM). Myocardial fibrosis measured by cardiac magnetic resonance (CMR) late gadolinium enhancement (LGE) also affects prognosis. We assessed whether an ECG risk-score could be used as an indicator of myocardial fibrosis or perfusion deficit on CMR in HCM.

Morbidity and resource usage after myectomy- or pacing-treatment in hypertrophic obstructive cardiomyopathy: A case-control study.

Background: Treatment of left ventricular outflow-obstruction (LVOTO) in hypertrophic obstructive cardiomyopathy (HOCM) by short atrio-ventricular delay pacing has long-term hemodynamic results that are not inferior to myectomy, but publications comparing long-term morbidity following those treatments are lacking.

Methods: A search for HOCM-patients attending all ten hospitals in the West Götaland Region, Sweden, from 2002 through 2013, identified 251 patients (42 treated with myectomy, 88 with pacing and 121 conservatively). As the age at procedure was significantly lower in the myectomy-group compared to the pacing-group, morbidity was compared by case-control methodology, matching patients for age, maximal wall thickness and LVOT-gradient.

Factors influencing long-term heart failure mortality in patients with obstructive hypertrophic cardiomyopathy in Western Sweden: probable dose-related protection from beta-blocker therapy.

Objective: In order to avoid effects of referral bias, we assessed risk factors for disease-related mortality in a geographical cohort of patients with hypertrophic obstructive cardiomyopathy (HOCM), and any therapy effect on survival.

Methods: Diagnostic databases in 10 hospitals in the West Götaland Region yielded 251 adult patients with HOCM (128 male, 123 female). Case notes were reviewed for clinical data and ECG and ultrasound findings.

Short atrioventricular delay pacing therapy in young and old patients with hypertrophic obstructive cardiomyopathy: good long-term results and a low need for reinterventions.

Aims: Examination of long-term results following different treatments in hypertrophic obstructive cardiomyopathy (HOCM) in a complete geographical cohort.

Methods And Results: HOCM patients attending during 2002-13 in all 10 hospitals in the West Götaland Region, Sweden, were identified (n = 251), follow-up 14.4 (±8.

Predictors of risk for sudden death in childhood hypertrophic cardiomyopathy: the importance of the ECG risk score.

Objective: To establish which risk factors are predictive for sudden death in hypertrophic cardiomyopathy (HCM) diagnosed in childhood.

Methods: A Swedish national cohort of patients with HCM diagnosed <19 years of age was collected between 1972 and 2014, consisting of 155 patients with available ECGs, with average follow-up of 10.9±(SD 9.

Early onset cardiomyopathy in females with Danon disease.

Danon disease is caused by mutations in the lysosome-associated membrane protein-2 gene, LAMP2, located on the X chromosome. Female carriers with LAMP2 mutations most often present with late onset cardiomyopathy and slow disease progress; however, there are unusual cases that emerge early and show a more severe disease course. We investigated the explanted heart and skeletal muscle biopsies in two girls, aged ten and thirteen years, who underwent cardiac transplantation because of hypertrophic cardiomyopathy secondary to LAMP2 mutations and a 41-year old female with late-onset familial LAMP2 cardiomyopathy with more typical clinical phenotype.

Beta-Blockers in Pediatric Hypertrophic Cardiomyopathies.

Unlabelled: Congestive cardiac failure accounts for 36% of childhood deaths in hypertrophic cardiomyopathy, and in infants with heart failure symptoms before two years of age, the mortality is extremely high unless treatment with beta-receptor antagonists is instituted. The mechanism of heart failure is not systolic dysfunction, but rather extreme diastolic dysfunction leading to high filling pressures. Risk factors for development of heart failure are a generalized pattern of hypertrophy with a left ventricular posterior wall-to- cavity ratio >0.

Differential diagnosis between left ventricular hypertrophy and cardiomyopathy in childhood.

The sensitivity and specificity of the electrocardiogram for the diagnosis of left ventricular hypertrophy of different etiologies are described. The sensitivity of the electrocardiogram for detecting left ventricular pressure overload is substantially lower (<35%) than the sensitivity for detecting evidence of a cardiomyopathy (55% to around 87%). Attention is drawn to the finding that in many differing etiologies of left ventricular hypertrophy ST-T-wave changes commonly referred to as "strain"-pattern are a harbinger of an increased risk of malignant cardiac arrhythmias and sudden death.

Effects of lifestyle changes and high-dose β-blocker therapy on exercise capacity in children, adolescents, and young adults with hypertrophic cardiomyopathy.

Aim: The use of β-blocker therapy in asymptomatic patients with hypertrophic cardiomyopathy is controversial. This study evaluates the effect of lifestyle changes and high-dose β-blocker therapy on their exercise capacity.

Methods And Results: A total of 29 consecutive newly diagnosed asymptomatic patients with familial hypertrophic cardiomyopathy, median age 15 years (range 7-25), were recruited.

Hypertrophic cardiomyopathy: do sudden death prevention strategies in children differ between Europe and North America?

Purpose Of Review: Hypertrophic cardiomyopathy (HCM) is the second most common childhood heart muscle disease and is the most common cause of unexpected sudden cardiac death in young people. The purpose of this review is to describe the risk of sudden death, to assess which of the criteria conventionally used as indication for a primary prevention defibrillator placement in adults are applicable in children with HCM, and to review differences in management between Europe and North America.

Recent Findings: There is no uniform 'annual mortality rate' in childhood, and the risk of sudden death is at its highest level between 8 and 16 years.

Cardiac autonomic function in adolescents operated by arterial switch surgery.

Background: Children with transposition of the great arteries, in whom an arterial switch operation (ASO) is performed, have been shown to have an increased incidence of sudden death, which may be due to cardiac autonomic imbalance and repolarisation instability. We hypothesised that i) cardiac norepinephrine (NE) kinetics and ii) arterial baroreflex sensitivity (BRS), reflecting sympathetic activity and vagal function respectively, are altered in this group.

Methods And Results: 17 children (15.