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Contains fulltext : 282587.pdf (Publisher’s version ) (Open Access) LAMA2-related muscular dystrophy (LAMA2-MD) and SELENON(SEPN1)-related myopathy (SELENON-RM) are rare neuromuscular diseases caused by mutations in the LAMA2 and SELENON (SEPN1) gene, respectively. Systematic reviews on cardiac features in both neuromuscular diseases are lacking. This scoping review aims to elucidate the cardiac involvement in LAMA2-MD or SELENON-RM. Three electronic databases (PubMed, Embase and Cochrane) were searched. All studies, case reports and case series with information on cardiac features in LAMA2-MD or SELENON-RM patients were included. Study selection and data extraction were performed by two independent reviewers. 31 Articles on LAMA2-MD and 17 articles on SELENON-RM met the inclusion criteria, resulting in the inclusion of 131 LAMA2-MD and 192 SELENON-RM cases. In 41% of LAMA2-RM cases, a cardiac abnormality was present. Left ventricular systolic dysfunction and arrhythmia were most frequently described. In 15% of SELENON-RM cases, a cardiac abnormality was reported, of which pulmonary hypertension, including right ventricular dysfunction secondary to pulmonary failure, was most prevalent. We conclude that in LAMA2-MD primary left ventricular dysfunction and in SELENON-RM secondary right ventricular dysfunction are frequently reported. Optimal cardiorespiratory surveillance by screening of asymptomatic patients every two years with ECG, Holter and echocardiography is necessary for early detection and/or treatment of cardiac manifestations.

Objectives: The goal of this study was to describe characteristics, cascade screening results, and predictors of adverse outcome in pediatric-onset arrhythmogenic right ventricular cardiomyopathy (ARVC). Background: Although ARVC is increasingly recognized in children, pediatric ARVC cohorts remain underrepresented in the literature. Methods: This study included 12 probands with pediatric-onset ARVC (aged 1-V 3 (P < 0.01), premature ventricular complexes/runs (P ≤ 0.01), and decrease in biventricular ejection fraction (P ≤ 0.01) were associated with VT occurrence. Conclusions: Pediatric ARVC carries high arrhythmic risk, especially in probands. Disease progression is particularly observed on electrocardiogram or Holter monitoring. Arrhythmic events are associated with male sex, T-wave inversions, premature ventricular complexes/runs, and reduced biventricular ejection fraction.

Bradycardia due to high-degree atrioventricular (AV) block remains the main indication for permanent cardiac pacing in childhood. Although there are major differences in the etiology of AV block in children and adults, the same pacing systems and leads are used in both age groups. The first pacemaker was implanted in a child in the late 1960s (Martin et al., 1966). Nowadays, implantation of a permanent pacing system is a straightforward and safe procedure with excellent pacemaker performance during follow-up, even in infants and small children (Welisch et al., 2010). Applying permanent pacing therapy in the young can be challenging. Many paediatric issues, such as patient size, body growth, coexistence of congenital heart disease, presence of residual intracardiac shunts and life style, have to be considered. Selecting the best pacing system for a child requires a firm understanding of modern pacing design, pacing indications, advantages and drawbacks of epicardial and endocardial lead pacing, and possible complications. The aim of this chapter is to give a dedicated overview of the practical implications of pacing in children with complete AV block.

Contains fulltext : 208423.pdf (Publisher’s version ) (Closed access) We describe a Fontan patient with severe heart failure who was successfully treated with biventricular cardiac resynchronization therapy (CRT). Our case shows that strain imaging might play a crucial role in guiding placement of pacing leads and in characterizing the electromechanical substrate associated with a favorable CRT response. Furthermore, we demonstrate for the first time that ventriculo-ventricular interdependency seems an important mechanical concept, which can be utilized to augment cardiac performance in failing Fontan patients with a functional hypoplastic ventricle.

Item does not contain fulltext OBJECTIVE: We sought to evaluate the feasibility, technical aspects, and outcome of transcatheter perimembranous ventricular septal defect (pmVSD) closure using duct occluder devices with a single retention disc. BACKGROUND: Use of duct occluder devices to close pmVSD seems a promising alternative therapy. However, limited data exist on this technique. METHODS: From 2010 to 2016, 222 patients (female 47.7%) were identified from databases of five participating institutions in whom pmVSD closure was attempted using an Amplatzer Duct Occluder I or Lifetech duct occluder device. RESULTS: Patients ranged in age from 0.7 to 52 years (median, 7.0 years) and in weight from 4.0 to 70 kg (median, 18.0 kg). The mean size of the VSD was 6.8 +/- 2.2 mm. A large defect (> 6 mm) was present in 137 patients (61.7%). Device closure was successful in 218 patients (98.2%). The 10/8 mm device was used in most patients (n = 85, 38.3%), and the vascular approach was from the femoral vein in 169 patients (76.1%). There were 18 early complications in 17/218 patients (7.8%). Three patients (1.4%) developed complete heart block (transient n = 2; requiring permanent pacing n = 1). Median follow-up was 6 months (6 months-6 years). A mild residual shunt was seen in 10 patients at 6 months follow-up. CONCLUSIONS: The immediate results of transcatheter pmVSD closure using a duct occluder device with a single retention disc are promising. It is an effective technique with a lower rate of complications than for other currently available devices.

Item does not contain fulltext BACKGROUND: Primary hyperoxaluria (PH) is characterized by progressive chronic kidney disease (CKD) and systemic oxalate deposition. Myocardial dysfunction might be present early in the course of the disease. However, this hypothesis has not yet been tested in the PH population. Therefore, we aimed to determine whether strain imaging using two-dimensional speckle tracking echocardiography (2D-STE) might detect subclinical myocardial disease in otherwise asymptomatic PH patients. METHODS: Prospective study of pediatric and adolescent PH patients with preserved LV ejection fraction (LV EF) and without renal replacement therapy. Subjects underwent conventional echocardiography and 2D-STE. Global (GLS) and segmental peak systolic LV longitudinal strain (LS) measurements were obtained. Data were compared with age- and gender-matched controls, and Z-scores were calculated as appropriate. RESULTS: Fifteen PH patients (age 14.1 +/- 5.9 years; 13/15 in CKD stages 1-2) were studied. Although LV EF was preserved (63 +/- 6%) in patients, GLS was significantly impaired (GLS - 17.1 +/- 2.2% vs - 22.4 +/- 1.9%, p < 0.001). This was mainly due to decreased LS values in the apical segments (p < 0.05). Echocardiographic indices of ventricular wall thickness were significantly increased in patients compared to controls (all p < 0.03). GLS correlated significantly with Z-scores of diastolic interventricular wall thickness (r = - 0.57, p = 0.025) and moderately with serum creatinine levels (r = 0.53, p = 0.044). No correlation was found between GLS and blood pressure measurements. CONCLUSIONS: Subclinical myocardial disease is already present early in the course of disease in PH patients with preserved LV EF and some degree of renal dysfunction, but without overt systemic oxalosis. Current recommendations to screen only PH patients with advanced CKD for cardiac disease should be revised accordingly.

Objective A standardised diagnostic definition of protein-losing enteropathy (PLE) in Fontan patients serves both patient care and research. The present study determined whether a diagnostic definition of PLE was routinely used in published clinical Fontan studies, and to identify potentially relevant diagnostic criteria for composing a uniform PLE definition. Methods A systematic review was conducted in adherence to the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) recommendations. Published clinical Fontan studies that were written in English and included at least four patients with PLE were selected. PLE definitions were quantitatively analysed using a lateral thinking tool in which definitions were fractionated into constituent pieces of information (building blocks or diagnostic criteria). Results We identified 364 papers. In the final analysis, data from 62 published articles were extracted. A diagnostic definition of PLE was used in only 27/62 (43.5%) of selected studies, and definitions were very heterogeneous. We identified eight major diagnostic criteria. Hypoalbuminaemia (n=23 studies, 85.2%), clinical presentation (n=18, 66.7%), documentation of enteric protein loss (n=16, 59.3%) and exclusion of other causes of hypoproteinaemia (n=17, 63.0%), were the most frequently used diagnostic criteria. Most studies used three diagnostic variables (n=13/27, 48.1%). Cut-off values for laboratory parameters (serum albumin, protein or faecal α-1-antitrypsin) were frequently incorporated in the PLE definition (n=16, 59.3%). Conclusions Establishment of a universally accepted PLE definition for routine use in clinical research and daily practice is required. The diagnostic criteria may help constitute a diagnostic PLE definition.

Objectives The primary aim of this multi-institutional study was to describe our 18-year experience of ductal stenting (DS) in infants with a duct-dependent pulmonary circulation. The secondary aim sought to identify a subgroup of patients who may benefit the most using this evolving technique. Background No study has examined the extraordinary evolution of this promising therapy over the last two decades. Methods Between 1991 and 2009, 65 neonates and infants (39 male, 60%) underwent cardiac catheterization for DS in 3 participating centres. Patients were divided according to whether DS was attempted between 1991–2000 (Group 1, n = 20) or between 2001–2009 (Group 2, n = 45). Results DS was successful in 52/65 (80%) patients. DS outcome was associated with ductal morphology and cardiac diagnosis. DS failed more often in patients with univentricular physiology and tortuous duct morphology (p

We read with interest the recent paper by Itkin et al. [(1)][1]. The authors are to be commended for their effort. However, the results should be viewed in the context of specific limitations. First, the serum albumin level is frequently being used as a surrogate endpoint in Fontan patients with

The aim of this registry is to provide data on age-related clinical features of suspected myocarditis and to create a study platform allowing for deriving diagnostic criteria and, at a later stage, testing therapeutic interventions in patients with myocarditis.After an initial 6-month pilot phase, MYKKE was opened in June 2014 as a prospective multicenter registry for patients from pediatric heart centers, university hospitals, and community hospitals with pediatric cardiology wards in Germany. Inclusion criteria consisted of age18 years and hospitalization for suspected myocarditis as leading diagnosis at the discretion of the treating physician. By December 31, 2015, fifteen centers across Germany were actively participating and had enrolled 149 patients. Baseline data reveal 2 age peaks (2 years,12 years), show higher proportions of males, and document a high prevalence of severe disease courses in pediatric patients with suspected myocarditis. Severe clinical courses and early adverse events were more prevalent in younger patients and were related to severely impaired leftventricular ejection fraction at initial presentation.MYKKE represents a multicenter registry and research platform for children and adolescents with suspected myocarditis that achieve steady recruitment and generate a wide range of real-world data on clinical course, diagnostic workup, and treatment of this group of patients. The baseline data reveal the presence of 2 age peaks and provide important insights into the severity of disease in children with suspected myocarditis. In the future, MYKKE might facilitate interventional substudies by providing an established collaborating network using common diagnostic approaches.

Background Familial hypercholesterolemia (FH), the prevalent monogenic form of hypercholesterolemia, carries the risk of premature coronary heart disease. Lipoprotein-apheresis is established in children with severe dyslipidemia. We present 3 siblings with a negative/negative residual low-density lipoprotein (LDL) receptor mutation (p.Trp577Arg), unresponsive to drug treatment. Objective Intensified lipoprotein-apheresis is well tolerated and results in permanently low lipid values without harming the health-related quality of life in children. Methods Three homozygous FH siblings, aged 7–13 years, had been treated with statins and ezetimibe for 12 months but still showed highly elevated low-density lipoprotein cholesterol (LDL-C) plasma concentrations. They were started on double-filtration plasmapheresis that was subsequently intensified according to plasma lipid levels. Results Each lipoprotein apheresis session reduced LDL-C concentration by 66% to 70%. Treated plasma volume was doubled after 6 months due to a sustained rebound of LDL-C between sessions. However, the rebound remained unchanged. Only an increase in frequency of sessions to every 3 to 4 days resulted in acceptable pre-treatment LDL-C concentrations (Cmax). Neither cessation of statins nor reduction of plasma exchange volume to 1.5 fold in follow-up influenced Cmax. Intensified therapy did not harm health-related quality of life as assessed by PedsQL and was well tolerated. Conclusions In pediatric FH patients unresponsive to drug treatment, intensified lipoprotein apheresis can normalize plasma lipid levels. Apparently, treatment frequency rather than volume has greater influence on its efficacy. The potential burden of intensified therapy to daily life has to be regarded. Serum lipid levels in FH should be normalized to minimize cardiovascular risk.

We report two unbalanced translocations involving the short arms of chromosomes 7 and 18 due to a balanced translocation 7;18 in the mother. Karyotyping and fluorescence in situ hybridization analysis of the female fetus revealed an unbalanced subtelomeric translocation (karyotype 46,XX,der(18)t(7;18)(p22.3;p11.32)mat resulting in a partial trisomy 7p and a partial monosomy 18p. Array comparative genomic hybridization (CGH) detected a 4.44-Mb heterozygous duplication at 7p22.3 to 7p22.1 and a 0.178-Mb heterozygous deletion at 18p11.32. Clinical characteristics comprised a mildly stenotic bicuspid aortic valve and a small aortic arch without coarctation. The patient’s older brother displayed a reciprocal version of her chromosomal aberration (46,XY,der(7)t(7;18)(p22;p11.32) resulting in a partial monosomy 7p and a partial trisomy 18p. Array CGH revealed a 4.75-Mb heterozygous deletion at 7p22.3p22.1 and a 0.579-Mb duplication at 18p11.32. He presented with tetralogy of Fallot, cleft palate, microcephalus without craniosynostosis, growth retardation, ptosis of the right eyelid, right-sided renal agenesis, unilateral cryptorchism, and mental retardation. In this report, we present the clinical phenotype in patients with aberrations of chromosomes 7p and 18p and reviewed the literature to summarize cardiovascular malformations in these patients.

Network Heart Failure, funded by the Federal Ministry of Education and Research, grant no. 01GI0205. The authors are indebted to Mike T. John and Wolfgang Micheelis for the kind permission to use the reference data of the OHIP-G questionnaire [12] for validation purposes. The authors of this manuscript have certified that they comply with the Principles of Ethical Publishing in the International Journal of Cardiology (Shewan and Coats 2010;144:1–2). They declare no conflict of interest.

Background Ventricular preexcitation may be associated with dilated cardiomyopathy, even in the absence of recurrent and incessant tachycardia. Methods This report describes the clinical and electrophysiologic characteristics of 10 consecutive children (6 males), with median age of 8 years (range, 1-17 years), who presented with dilated cardiomyopathy and overt ventricular preexcitation on the 12-lead electrocardiogram. Incessant tachycardia as the cause of dilated cardiomyopathy could be excluded. Coronary angiography, right ventricular endomyocardial biopsy (4/10 patients), and metabolic and microbiologic screening were nondiagnostic. Results The electrocardiograms suggested right-sided pathways in all patients. A right-sided accessory pathway was demonstrated in 8 patients during invasive electrophysiologic study (superoparaseptal, n = 5; septal, n = 2; fasciculoventricular, n = 1). All pathways were successfully ablated (radiofrequency ablation in 7, cryoablation in 1). Two patients had spontaneous loss of ventricular preexcitation during follow-up. Left ventricular (LV) function completely recovered after a loss of preexcitation in all patients. Conclusions Right-sided accessory pathways with overt ventricular preexcitation and LV dyssynchrony may cause dilated cardiomyopathy. An association between such pathways and dilated cardiomyopathy is suggested by the rapid normalization of ventricular function and reverse LV remodeling after a loss of ventricular preexcitation.

BackgroundLimited data exist on the vitamin D status in Fontan patients. We determined the prevalence and potential risk factors of vitamin D deficiency in this patient subset.Methods and resultsData were collected from 27 Fontan patients (55.6% male, mean age 8.1±5.3 years). Protein-losing enteropathy was diagnosed in six patients (22.2%). Vitamin D deficiency was defined as a serum 25-hydroxyvitamin D level of ConclusionsA high prevalence of vitamin D deficiency was found among Fontan patients, independent of age, time after Fontan procedure, ventricular morphology, and presence of protein-losing enteropathy. A potentially important link between parathyroid hormone levels and systemic inflammation is suggested.

Aims In young patients, slow pathway ablation for treatment of atrioventricular nodal reentrant tachycardia (AVNRT) carries a small but definite risk of permanent AV block. The aim was to assess the efficacy of slow pathway ablation aided by the LocaLisa mapping system. Patients and methods Radiofrequency (RF) modification of the slow AV nodal pathway was performed in 26 children

Important advances in the diagnosis and therapy of various arrhythmic disorders have been made in the last two decades. These, in turn, have necessitated a re-examination of current practice guidelines, with a view to deciding on optimal management of young patients with suspected or proven arrhythmia syndromes and in assessing the risk of adverse arrhythmic events during sport participation. There has also been a concomitant emphasis on identifying individuals at risk by nationwide screening programs using the ECG and excluding them from competitive sport. This review identifies some of these issues, looks at the data critically and offers some suggestions for current care and future research.

Background Cardiac dysfunction frequently complicates the clinical course of patients with end-stage renal failure (ESRF). Recently, we observed abnormal longitudinal cardiac rotation (LR) among patients with ESRF. In this study, we sought to quantify LR mechanics in patients undergoing hemodialysis (HD). Methods Twenty-four subjects, 12 ESRF patients (58% male; age 17.5 ± 4.4 years) receiving HD, and 12 aged-matched controls, were prospectively studied. Patients underwent echocardiographic studies before and after HD. LR mechanics were quantified with two-dimensional speckle tracking echocardiography. Peak systolic left ventricular (LV) longitudinal strain and displacement measurements were obtained in all subjects. Results LR mechanics were successfully quantified in all subjects using 5 key echocardiographic features of LR. We identified two different inhomogeneous LR motion patterns in 41.7% of ESRF patients, characterized by a delayed timing of LR or increased segmental apical rotation. Inhomogeneous LR patterns were not found in controls. Timing of early-systolic counterclockwise LR increased after HD (P = 0.006). In patients, late-systolic clockwise LR occurred earlier (P = 0.043), and showed a significant prolongation after HD (P = 0.003). Longitudinal strain was significantly impaired in patients (P = 0.015), and further decreased after HD (P

The 12-lead surface electrocardiogram is a valuable and feasible clinical tool in the management of patients following tetralogy of Fallot (TOF) repair. The importance of QRS duration in TOF patients has long been acknowledged. A prolonged QRS complex has been associated with increased risk for subsequent life-threatening ventricular arrhythmia and sudden cardiac death. Our current ability to risk-stratify TOF patients for malignant arrhythmogenic events primarily on the basis of QRS duration is rather limited. Nevertheless, increasing evidence suggests that QRS morphology and duration may be useful as surrogate markers of infundibular and regional right ventricular myocardial disease. The aim of this review is to provide a critical appraisal of the clinical implications of established and new electrocardiographic markers of ventricular conduction delay in TOF patients following surgical correction with a particular focus on QRS duration, lengthening, and fragmentation. In addition, the pathophysiological background of these parameters is addressed.

OBJECTIVESWe sought to identify the risk factors predicting the development of dilated cardiomyopathy (DCM) in patients with isolated congenital complete atrioventricular block (CCAVB).BACKGROUNDRecently evidence has emerged that a subset of patients with CCAVB develop DCM.METHODSThis was a retrospective study of 149 patients with CCAVB who had heart size and left ventricular (LV) function assessed by echocardiography and chest radiography over a follow-up period of 10 ± 7 years.RESULTSNine patients developed DCM at the age of 6.5 ± 5 years. No definite cause could be identified. In these nine patients, CCAVB was diagnosed in eight at 23 ± 2.3 weeks gestation and in one at birth. Maternal SSA/SSB antibodies were confirmed in seven of the nine patients. Pacemakers were implanted in eight patients in the first month and in one patient at five years of age. The initial left ventricular end-diastolic dimension (LVEDD) was in the 96th ± 2.6 percentile and the cardiothoracic (CT) ratio was 64 ± 3.8% in the nine patients who developed DCM, and differed significantly in patients with CCAVB (p < 0.005) who did not develop DCM. The LVEDD and CT ratio did not decrease in the patients with CCAVB and DCM, but decreased significantly in the patients with CCAVB without DCM (p < 0.001) once pacing was initiated. Two patients with DCM died within two months of diagnosis; one patient is neurologically compromised; two patients received a heart transplant; and four patients are listed for heart transplantation.CONCLUSIONSIsolated CCAVB is associated with a long-term risk for the development of DCM. Risk factors may be SSA/SSB antibodies, increased heart size at initial evaluation and the absence of pacemaker-associated improvement.

A 24-year-old woman with end-stage renal failure because of primary hyperoxaluria type 1 was evaluated in our hospital for systemic calcium oxalate deposition in the course of long-term (5 years) hemodialysis therapy. Diagnosis of primary hyperoxaluria type 1, a hereditary cause of calcium oxalate kidney stones or progressive nephrocalcinosis that frequently results in end-stage renal failure,1 was made by liver biopsy (reduced alanine:glyoxylate aminotransferase activity, 3.0 µmol/h per milligram protein; normal, 19.1–47.9) and by genetic testing (homozygosity for the c.302 T>C, AGXT mutation). Her plasma oxalate level on regular hemodialysis (3× per week over 4 hours) was increased (86 µmol/L predialysis; normal

Structural mitral valve (MV) abnormalities are common in patients with hypertrophic cardiomyopathy (HCM). This is the first report demonstrating MV abnormalities in very young children as the sole overt clinical feature of a known HCM-causing sarcomere protein gene mutation. Due to MV leaflet elongation, we also noticed a typical fast diastolic swinging motion of the MV in our patients. This novel echocardiographic feature may be used as a clinical marker of HCM disease in the absence of left ventricular hypertrophy.

Manipulation of a pacemaker with consequent malfunction of the device has been called Twiddler's syndrome. Use of active-fixation leads and subpectoral pacemaker pockets has been considered to help in avoiding this problem. We describe a child in whom twiddling was not prevented despite implantation of a lumenless atrial lead and insertion of the pacemaker generator in a subpectoral pocket.