A5074221016- Cardiomyopathy and Myosin Studies
- Congenital Heart Disease Studies
- Cardiovascular Function and Risk Factors
- Cardiovascular Effects of Exercise
- Congenital heart defects research
- Cardiac Arrhythmias and Treatments
- Viral Infections and Immunology Research
- Coronary Artery Anomalies
- Cardiac pacing and defibrillation studies
- Mitochondrial Function and Pathology
- Retinal Imaging and Analysis
- Neurogenetic and Muscular Disorders Research
- Kawasaki Disease and Coronary Complications
- Trypanosoma species research and implications
- Infective Endocarditis Diagnosis and Management
- ATP Synthase and ATPases Research
- Pulmonary Hypertension Research and Treatments
- Cardiovascular Issues in Pregnancy
- Retinal Diseases and Treatments
- Muscle Physiology and Disorders
- Streptococcal Infections and Treatments
- Takotsubo Cardiomyopathy and Associated Phenomena
- Eosinophilic Disorders and Syndromes
- Heme Oxygenase-1 and Carbon Monoxide
- Protein Tyrosine Phosphatases
Children's Memorial Health Institute
2016-2025
European Society of Cardiology
2024
Associazione Nazionale Medici Cardiologi Ospedalieri
2024
Institute of Cardiology
2021-2022
Pitié-Salpêtrière Hospital
2014
Assistance Publique – Hôpitaux de Paris
2014
Assaf Harofeh Medical Center
2014
Benha University
2014
Hacettepe University
2014
Centro Cardiologico Monzino
2014
Sudden cardiac death (SCD) is the most common mode of in childhood hypertrophic cardiomyopathy (HCM), but there no validated algorithm to identify those at highest risk.
Childhood-onset cardiomyopathies are rare and poorly characterized. This study examined the baseline characteristics 1-year follow-up of children with cardiomyopathy in first European Cardiomyopathy Registry.
Up to one-half of childhood sarcomeric hypertrophic cardiomyopathy (HCM) presents before the age 12 years, but this patient group has not been systematically characterized. The aim study was describe clinical presentation and natural history patients presenting with nonsyndromic HCM years. Data from International Paediatric Hypertrophic Cardiomyopathy Consortium on 639 children diagnosed younger than years were collected compared those 568 between 16 At baseline, 339 (53.6%) had family...
To date limited data are available to predict the progression end-stage heart failure (HF) with subsequent death (non-SCD), need for transplantation, or sudden cardiac (SCD) in children hypertrophic cardiomyopathy (HCM). We aimed determine predictors of long-term outcome HCM. A total 112 (median 14.1, IQR 7.8–16.6 years) were followed up median 6.5 years development morbidity and mortality, including arrhythmic HF-related secondary end points. HF point included transplant, resuscitated...
In hypertrophic cardiomyopathy (HCM), the following five risk factors have a major role in primary prevention of sudden death (SD): family history SD (FHSD), syncope, massive wall thickness (MWTh) >30 mm, non-sustained ventricular tachycardia (nsVT) Holter monitoring electrocardiography, and abnormal blood pressure response to exercise (aBPRE). HCM, as genetic cardiac disease, for may also exist from birth. The aim study was compare survival curves constructed each traditional follow-up...
Children presenting with hypertrophic cardiomyopathy (HCM) in infancy are reported to have a poor prognosis, but this heterogeneous group has not been systematically characterized. This study aimed describe the aetiology, phenotype, and outcomes of infantile HCM well-characterized multicentre European cohort.Of 301 children diagnosed between 1987 2019 17 centres [male n = 187 (62.1%)], underlying aetiology was non-syndromic (n 138, 45.6%), RASopathy 101, 33.6%), or inborn error metabolism...
According to the latest guidelines of European and American medical societies, genetic testing (GT) is essential in cardiovascular diseases for establishing diagnosis, predicting prognosis, enabling initiation disease-modifying therapy, preventing sudden cardiac death. The GT result may be relevant cascade patient's relatives, planning his/her profession physical activity, procreative counseling. This position statement has been prepared due scarcity Poland need expand its availability. We...
Abstract Aims The 12-lead electrocardiogram (ECG) is routinely performed in children with hypertrophic cardiomyopathy (HCM). An ECG risk score has been suggested as a useful tool for stratification, but this not independently validated. This aim of study was to describe the phenotype childhood HCM large, international, multi-centre cohort and investigate its role prediction arrhythmic events. Methods results Data from 356 patients mean age 10.1 years (±4.5) were collected retrospective,...
Background: Maximal left ventricular wall thickness (MLVWT) is a risk factor for sudden cardiac death (SCD) in hypertrophic cardiomyopathy (HCM). In adults, the severity of hypertrophy has nonlinear relationship with SCD, but it not known whether same complex seen childhood. The aim this study was to describe between and SCD large international pediatric HCM cohort. Methods: cohort comprised 1075 children (mean age, 10.2 years [±4.4]) diagnosed (1–16 years) from International Paediatric...
Erythropoietic protoporphyria (EPP) is an autosomal recessive disorder of the heme biosynthesis pathway caused by pathogenic variants in FECH gene resulting a decreased activity ferrochelatase. Liver involvement observed 5%–20% patients harbouring loss-of-function and its manifestations are heterogeneous, ranging from mildly elevated liver transaminases, cholelithiasis to severe acute cholestatic hepatitis/liver failure. This paper presents case Polish infant with EPP associated two novel...
(1) Introduction: The aim of this study is to assess retinal vessel density (VD) in the superficial capillary plexus layer (SP) and deep (DP) children with chronic heart failure (CHF) course dilated cardiomyopathy (DCM) using optical coherence tomography angiography (OCTA). (2) Methods: Thirty CHF due DCM lasting more than six months, an enlarged left ventricle impaired ventricular systolic function (left ejection fraction (LVEF) ≤ 55%), were enrolled have both their eyes assessed for study....
Background: Left ventricular noncompaction (LVNC) is a genetically and phenotypically heterogeneous cardiomyopathy in which myocardium consists of two, distinct compacted noncompacted layers, prominent trabeculations deep intertrabecular recesses are present. LVNC associated with an increased risk heart failure, atrial arrhythmias thromboembolic events. Familial forms primary sinus bradycardia have been attributed to alterations HCN4. There very few reports about the association between HCN4...
Barth syndrome (BTHS) is an X-linked mitochondrial defect characterised by dilated cardiomyopathy, neutropaenia and 3-methylglutaconic aciduria (3-MGCA). We report on two affected brothers with c.646G > A (p.G216R) TAZ gene mutations. The pathogenicity of the mutation, as indicated structure-based functional analyses, was further confirmed abnormal monolysocardiolipin/cardiolipin ratio in dry blood spots patients well occurrence this mutation another reported BTHS proband. In both brothers,...
Background: Left ventricular non-compaction (LVNC) is a rare cardiomyopathy typically involving the left ventricle (LV); however, right (RV) can also be affected. This case-control study aimed to assess morphology and function of LV RV in children with LVNC. Methods: Sixteen (13 ± 3 years, six girls) LVNC were compared 16 sex- age-matched controls. evaluated cardiovascular magnetic resonance (CMR) studies. Additionally, global radial (GRS), circumferential (GCS), longitudinal strain (GLS)...
In children with hypertrophic cardiomyopathy (HCM) there often occurs a non-ischemic pattern of myocardial fibrosis, which could be the cause impaired left ventricular (LV) diastolic function assessed by tissue Doppler imaging (TDI). The aim study was to determine prevalence fibrosis in HCM, and evaluate its relationship echocardiographic parameters including LV dysfunction.Sixty-three mean age 12.2 ±4.5 years, underwent magnetic resonance (MRI) from January 2010 April 2014. results MRI,...
Background: Left ventricular noncompaction cardiomyopathy (LVNC) is a rare cardiac disorder characterised by the presence of two-layer myocardium with prominent trabeculation, intertrabecular deep depressions and an increased risk heart failure, atrial arrhythmias systemic thromboembolic events in affected patients. The heterogeneous molecular aetiology solved 10%–50% patients more frequently involves sarcomeric, cytoskeletal or ion channel protein dysfunction—mainly related to causative...
Abstract Myocardial ischemia caused by microvascular dysfunction is an important pathophysiologic component of hypertrophic cardiomyopathy (HCM), promoting myocardial fibrosis, adverse left ventricular remodeling, and impacting on clinical course outcome in HCM patients. The aim study was to assess the prevalence significance children with using 99mTc-MIBI single-photon emission computed tomography (SPECT). Ninety-one HCM, median age 13.6 years, underwent SPECT evaluation from 2006 2017....
To investigate biatrial mechanics and their relation with left ventricular outflow tract (LVOT) obstruction (LVOTO), the degree of hypertrophy, indices diastolic function fibrosis in children hypertrophic cardiomyopathy (HCM). Fifty-five consecutive, prospectively recruited HCM (mean age 12.5 ± 4.6 years, 69.1% male), 19 (34.5%) whom had LVOTO, underwent cardiac magnetic resonance echocardiography quantification phasic components function, biventricular fibrosis. Twenty healthy, sex-matched...