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Keywords Hypertrophic cardiomyopathy in...

Hypertrophic cardiomyopathy in children

https://read.qxmd.com/read/38433549/prevalence-and-clinical-significance-of-late-gadolinium-enhancement-in-children-and-adolescents-with-hypertrophic-cardiomyopathy-a-systematic-review-and-meta-analysis
#1
JOURNAL ARTICLE
Leong Tung Ong, Si Wei David Fan
OBJECTIVES: Hypertrophic cardiomyopathy is the leading cause of sudden cardiac death among the paediatric population. The aim of this study is to investigate the prevalence and clinical significance of late gadolinium enhancement, as assessed by cardiac MRI, in paediatric hypertrophic cardiomyopathy. METHODS: A systematic literature search was conducted in PubMed, SCOPUS, and Ovid SP to identify relevant studies. Pooled estimates with a 95% confidence interval were calculated using the random-effects generic inverse variance model...
March 4, 2024: Cardiology in the Young
https://read.qxmd.com/read/38427064/cardiomyopathies-in-children-and-adolescents-aetiology-management-and-outcomes-in-the-european-society-of-cardiology-eurobservational-research-programme-cardiomyopathy-and-myocarditis-registry
#2
JOURNAL ARTICLE
Juan Pablo Kaski, Gabrielle Norrish, Juan Ramon Gimeno Blanes, Philippe Charron, Perry Elliott, Luigi Tavazzi, Michal Tendera, Cécile Laroche, Aldo P Maggioni, Anwar Baban, Diala Khraiche, Lidia Ziolkowska, Giuseppe Limongelli, Tiina Ojala, Matthias Gorenflo, Aris Anastasakis, Shaimaa Mostafa, Alida L P Caforio
BACKGROUND AND AIMS: Childhood-onset cardiomyopathies are rare and poorly characterized. This study examined the baseline characteristics and 1-year follow-up of children with cardiomyopathy in the first European Cardiomyopathy Registry. METHODS: Prospective data were collected on individuals aged 1-<18 years enrolled in the European Society of Cardiology EURObservational Research Programme Cardiomyopathy and Myocarditis long-term registry (June 2014-December 2016)...
March 1, 2024: European Heart Journal
https://read.qxmd.com/read/38372211/experience-with-cascade-screening-a-comprehensive-family-pedigree-analysis-of-two-index-patients-with-fabry-disease
#3
JOURNAL ARTICLE
Pelin Teke Kisa, Burcu Ozturk Hismi, Mehmet Kocabey, Zumrut Arslan Gulten, Bulent Huddam, Selim Ekinci, Evrim Bozkaya, Harun Akar, Ozge K Karalar Pekuz, Ayca Aydogan, Nur Arslan
The wide range of clinical symptoms observed in patients with Fabry disease (FD) often leads to delays in diagnosis and initiation of treatment. Delayed initiation of therapy may result in end-organ damage, such as chronic renal failure, hypertrophic cardiomyopathy, and stroke. Although some tools are available to identify undiagnosed patients, new comprehensive screening methods are needed. In this study, the outcomes of the cascade screening applied to three index cases with FD from 2 familes were investigated...
February 19, 2024: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/38356193/prevalence-and-phenotypes-associated-with-alpk3-null-variants-in-a-large-french-multicentric-cohort-confirming-its-involvement-in-hypertrophic-cardiomyopathy
#4
JOURNAL ARTICLE
Flavie Ader, Guillaume Jedraszak, Alexandre Janin, Clarisse Billon, Nathalie Roux Buisson, Adrien Bloch, Meriem Bensalah, Anachiara De Sandre-Giovannoli, Adeline Goudal, Luisa Marsili, Cécile Cazeneuve, Philippe Charron, Gilles Millat, Pascale Richard
Biallelic disease-causing variants in the ALPK3 gene were first identified in children presenting with a severe cardiomyopathy. More recently, it was shown that carriers of heterozygous ALPK3 null variants are at risk of developing hypertrophic cardiomyopathy (HCM) with an adult onset. Since the number of reported ALPK3 patients is small, the mutational spectrum and clinical data are not fully described. In this multi-centric study, we described the molecular and clinical spectrum of a large cohort of ALPK3 patients...
February 14, 2024: Clinical Genetics
https://read.qxmd.com/read/38340604/pathological-causes-of-sudden-death-in-autopsied-children-with-reference-to-peculiar-findings-an-egyptian-perspective
#5
JOURNAL ARTICLE
Nora Fawzy Fnon, Nour El-Hoda Sayed Ismael, Hanan Hosney Hassan, Samar Abd-Elmonem El-Sheikh, Zahraa Khalifa Sobh
Childhood is a long period extending up to the age of 18 years. Childhood encompasses different developmental stages; each stage has specific characteristics. This 5-year study included 244 autopsied children who died unexpectedly due to natural causes. This study was conducted in the forensic pathology unit of the Egyptian Forensic Medicine Authority (EFMA). Pathological causes of death were diagnosed in 181 cases, representing nearly three-quarters (74.2 %) of cases. Males represented 60.8 % of these cases...
February 6, 2024: Journal of Forensic and Legal Medicine
https://read.qxmd.com/read/38335407/naa10-gene-related-ogden-syndrome-with-obstructive-hypertrophic-cardiomyopathy-a-rare-case-report
#6
JOURNAL ARTICLE
Feihong Li, Wenyang Wang, Yazhou Li, Xiwang Liu, Zhirui Zhu, Jian Tang, Yaoqin Hu
RATIONALE: Ogden syndrome is an exceptionally rare X-linked disease caused by mutations in the NAA10 gene. Reported cases of this syndrome are approximately 20 children and are associated with facial dysmorphism, growth delay, developmental disorders, congenital heart disease, and arrhythmia. PATIENT CONCERNS: We present the clinical profile of a 3-year-old girl with Ogden syndrome carrying a de novo NAA10 variant [NM_003491:c.247C>T, p.(Arg83Cys)]. During infancy, she exhibited features such as left ventricular hypertrophy, protruding eyeballs, and facial deformities...
February 9, 2024: Medicine (Baltimore)
https://read.qxmd.com/read/38331407/cardiac-mri-in-diagnosis-prognosis-and-follow-up-of-hypertrophic-cardiomyopathy-in-children-current-perspectives
#7
JOURNAL ARTICLE
Tessa O M Spaapen, Anneloes E Bohte, Martijn G Slieker, Heynric B Grotenhuis
Hypertrophic Cardiomyopathy (HCM) is an inherited myocardial disease characterised by left ventricular hypertrophy, which carries an increased risk of life-threatening arrhythmias and sudden cardiac death. The age of presentation and the underlying aetiology have a significant impact on the prognosis and quality of life of children with HCM, as childhood-onset HCM is associated with high mortality risk and poor long-term outcomes. Accurate cardiac assessment and identification of the HCM phenotype are therefore crucial to determine the diagnosis, prognostic stratification, and follow-up...
February 8, 2024: British Journal of Radiology
https://read.qxmd.com/read/38308002/disease-features-and-management-of-cardiomyopathies-in-women
#8
REVIEW
Alberto Aimo, Paolo Morfino, Chiara Arzilli, Giuseppe Vergaro, Valentina Spini, Iacopo Fabiani, Vincenzo Castiglione, Claudio Rapezzi, Michele Emdin
Over the last years, there has been a growing interest in the clinical manifestations and outcomes of cardiomyopathies in women. Peripartum cardiomyopathy is the only women-specific cardiomyopathy. In cardiomyopathies with X-linked transmission, women are not simply healthy carriers of the disorder, but can show a wide spectrum of clinical manifestations ranging from mild to severe manifestations because of heterogeneous patterns of X-chromosome inactivation. In mitochondrial disorders with a matrilinear transmission, cardiomyopathy is part of a systemic disorder affecting both men and women...
February 3, 2024: Heart Failure Reviews
https://read.qxmd.com/read/38296631/childhood-onset-hypertrophic-cardiomyopathy-caused-by-thin-filament-sarcomeric-variants
#9
JOURNAL ARTICLE
Gabrielle Norrish, Marisa Gasparini, Ella Field, Elena Cervi, Juan Pablo Kaski
Up to 20% of children with sarcomeric hypertrophic cardiomyopathy (HCM) have disease-causing variants in genes coding for thin-filament proteins. However, data on genotype-phenotype correlations for thin-filament disease are limited. This study describes the natural history and outcomes of children with thin-filament-associated HCM and compares it to thick-filament-associated disease.Longitudinal data were collected from 40 children under 18 years with a disease-causing variant in a thin-filament protein from a single quaternary referral centre...
January 31, 2024: Journal of Medical Genetics
https://read.qxmd.com/read/38256355/inherited-arrhythmias-in-the-pediatric-population-an-updated-overview
#10
REVIEW
Marco Valerio Mariani, Nicola Pierucci, Francesca Fanisio, Domenico Laviola, Giacomo Silvetti, Agostino Piro, Vincenzo Mirco La Fazia, Cristina Chimenti, Marco Rebecchi, Fabrizio Drago, Fabio Miraldi, Andrea Natale, Carmine Dario Vizza, Carlo Lavalle
Pediatric cardiomyopathies (CMs) and electrical diseases constitute a heterogeneous spectrum of disorders distinguished by structural and electrical abnormalities in the heart muscle, attributed to a genetic variant. They rank among the main causes of morbidity and mortality in the pediatric population, with an annual incidence of 1.1-1.5 per 100,000 in children under the age of 18. The most common conditions are dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM). Despite great enthusiasm for research in this field, studies in this population are still limited, and the management and treatment often follow adult recommendations, which have significantly more data on treatment benefits...
January 3, 2024: Medicina
https://read.qxmd.com/read/38244986/unique-aspects-of-hypertrophic-cardiomyopathy-in-children
#11
REVIEW
Madeleine Townsend, Aamir Jeewa, Michael Khoury, Chentel Cunningham, Kristen George, Jennifer Conway
Hypertrophic cardiomyopathy (HCM) is a primary heart muscle disease characterized by left ventricular hypertrophy that can be asymptomatic or with presentations that vary from left ventricular outflow tract obstruction, heart failure from diastolic dysfunction, arrhythmias, and/or sudden cardiac death (SCD). Children <1 year of age tend to have worse outcomes and often have HCM secondary to inborn errors of metabolism or syndromes such as RASopathies. For children who survive or are diagnosed >1 year of age, HCM outcomes are often favourable and similar to those seen in adults...
January 18, 2024: Canadian Journal of Cardiology
https://read.qxmd.com/read/38217456/natural-history-and-outcomes-in-paediatric-rasopathy-associated-hypertrophic-cardiomyopathy
#12
JOURNAL ARTICLE
Olga Boleti, Gabrielle Norrish, Ella Field, Kathleen Dady, Kim Summers, Gauri Nepali, Vinay Bhole, Orhan Uzun, Amos Wong, Piers E F Daubeney, Graham Stuart, Precylia Fernandes, Karen McLeod, Maria Ilina, Muhammad Najih Liaqath Ali, Tara Bharucha, Grazia Delle Donne, Elspeth Brown, Katie Linter, Caroline B Jones, Jonathan Searle, William Regan, Sujeev Mathur, Nicola Boyd, Zdenka Reinhardt, Sophie Duignan, Terence Prendiville, Satish Adwani, Juan Pablo Kaski
AIMS: This study aimed to describe the natural history and predictors of all-cause mortality and sudden cardiac death (SCD)/equivalent events in children with a RASopathy syndrome and hypertrophic cardiomyopathy (HCM). METHODS AND RESULTS: This is a retrospective cohort study from 14 paediatric cardiology centres in the United Kingdom and Ireland. We included children <18 years with HCM and a clinical and/or genetic diagnosis of a RASopathy syndrome [Noonan syndrome (NS), NS with multiple lentigines (NSML), Costello syndrome (CS), cardiofaciocutaneous syndrome (CFCS), and NS with loose anagen hair (NS-LAH)]...
January 13, 2024: ESC Heart Failure
https://read.qxmd.com/read/38205249/transcriptome-analysis-of-human-hypertrophic-cardiomyopathy-reveals-inhibited-cardiac-development-pathways-in-children
#13
JOURNAL ARTICLE
Shi Chen, Jingjing Hu, Yidan Xu, Jun Yan, Shoujun Li, Liang Chen, Jing Zhang
The epidemiological, etiological, and clinical characteristics vary greatly between pediatric (P-HCM) and adult (A-HCM) hypertrophic cardiomyopathy (HCM) patients, and the understanding of the heterogeneous pathogenesis mechanisms is insufficient to date. In this study, we aimed to comprehensively assess the respective transcriptome signatures and uncover the essential differences in gene expression patterns among A-HCM and P-HCM. The transcriptome data of adults were collected from public data (GSE89714), and novel pediatric data were first obtained by RNA sequencing from 14 P-HCM and 9 infantile donor heart samples...
January 19, 2024: IScience
https://read.qxmd.com/read/38165464/the-clinical-profile-genetic-basis-and-survival-of-childhood-cardiomyopathy-a-single-center-retrospective-study
#14
JOURNAL ARTICLE
Wenjing Yuan, Zhongli Jia, Jiajin Li, Lingjuan Liu, Jie Tian, Xupei Huang, Junjun Quan
UNLABELLED: Cardiomyopathy (CM) is a heterogeneous group of myocardial diseases in children. This study aimed to identify demographic features, clinical presentation and prognosis of children with CM. Clinical characteristics and prognostic factors associated with mortality were evaluated by Cox proportional hazards regression analyses. Genetic testing was also conducted on a portion of patients. Among the 317 patients, 40.1%, 25.2%, 24.6% and 10.1% were diagnosed with dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), left ventricular noncompaction cardiomyopathy (LVNC) and restrictive cardiomyopathy (RCM), respectively...
January 2, 2024: European Journal of Pediatrics
https://read.qxmd.com/read/38136934/the-cardiofaciocutaneous-syndrome-from-genetics-to-prognostic-therapeutic-implications
#15
REVIEW
Giovanna Scorrano, Emanuele David, Elisa Calì, Roberto Chimenz, Saverio La Bella, Armando Di Ludovico, Gabriella Di Rosa, Eloisa Gitto, Kshitij Mankad, Rosaria Nardello, Giuseppe Donato Mangano, Chiara Leoni, Giorgia Ceravolo
Cardiofaciocutaneous (CFC) syndrome is one of the rarest RASopathies characterized by multiple congenital ectodermal, cardiac and craniofacial abnormalities with a mild to severe ocular, gastrointestinal and neurological involvement. It is an autosomal dominant syndrome, with complete penetrance, caused by heterozygous pathogenic variants in the genes BRAF , MAP2K1/MEK1 , MAP2K2/MEK2 , KRAS or, rarely, YWHAZ , all part of the RAS-MAPK pathway. This pathway is a signal transduction cascade that plays a crucial role in normal cellular processes such as cell growth, proliferation, differentiation, survival, metabolism and migration...
November 22, 2023: Genes
https://read.qxmd.com/read/38123611/sudden-death-in-young-south-european-population-a-cross-sectional-study-of-postmortem-cases
#16
JOURNAL ARTICLE
Mafalda Carrington, Rosa Henriques de Gouveia, Rogério Teixeira, Francisco Corte-Real, Lino Gonçalves, Rui Providência
To describe the annual incidence and the leading causes of sudden non-cardiac and cardiac death (SCD) in children and young adult Portuguese population. We retrospectively reviewed autopsy of sudden unexpected deaths reports from the Portuguese National Institute of Legal Medicine and Forensic Sciences' database, between 2012 and 2016, for the central region of Portugal, Azores and Madeira (ages 1-40: 26% of the total population). During a 5-year period, 159 SD were identified, corresponding to an annual incidence of 2,4 (95%confidence interval, 1,5-3,6) per 100...
December 20, 2023: Scientific Reports
https://read.qxmd.com/read/38097053/modeling-the-relationship-between-diastolic-phenotype-and-outcomes-in-pediatric-hypertrophic-cardiomyopathy
#17
JOURNAL ARTICLE
Minh B Nguyen, Maelys Venet, Chun-Po Steve Fan, Andreea Dragulescu, Craig G Rusin, Luc L Mertens, Seema Mital, Olivier Villemain
AIMS: Pediatric hypertrophic cardiomyopathy (HCM) is associated with adverse events. The contribution of diastolic dysfunction to adverse events is poorly understood. We explored the association between diastolic phenotype and outcomes in pediatric patients with HCM. METHODS/RESULTS: Children <18 years of age with diagnosed with HCM were included. We measured diastolic function parameters from the first echocardiogram at time of diagnosis including Doppler flow velocities, tissue Doppler velocities, and left atrial (LA) volume and function...
December 12, 2023: Journal of the American Society of Echocardiography
https://read.qxmd.com/read/38094187/neonatal-hypertrophic-cardiomyopathy-with-dyspnoea-as-the-first-symptom-a-case-report
#18
Xiaoxia Li, Shu-Jun Hong, Hui Hong, Zhi-Qun Zhang, Jing Li
Neonatal hypertrophic cardiomyopathy (HCM) is an idiopathic disease characterised by myocardial hypertrophy with normal or small ventricular chambers, a systolic hyperdynamic state and diastolic dysfunction. The etiology, pathogenesis and clinical manifestations of HCM are diverse, and it is likely to progress to sudden cardiac death. The highly heterogeneous nature of this disease determines the difficulty of its diagnosis, and it is especially rare to report that can be diagnosed conclusively in the neonatal period...
2023: Frontiers in Pediatrics
https://read.qxmd.com/read/38010634/-morphology-of-the-myocardium-of-the-interventricular-septum-in-children-with-hypertrophic-cardiomyopathy
#19
JOURNAL ARTICLE
T V Sukhacheva, R A Serov, D A Malenkov, M I Berseneva, L A Bokeria
OBJECTIVE: To carry out a comparative analysis of the morphology of the interventricular septum (IVS) myocardium in children with hypertrophic cardiomyopathy (HCM) and without cardiovascular pathology. MATERIAL AND METHODS: A study of myocardial biopsies of the IVS in children with HCM ( n =18, 1.2-17 years) and children without cardiovascular pathology ( n =11, 1-16 years) was carried out. The volume of interstitial tissue in the IVS myocardium was determined, a morphometric study of the size of cardiomyocytes (CMCs), the myofibrillogenesis level and the ploidy of CMCs was carried out, the ultrastructure of the CMCs was studied, and the localization of the gap junction protein, connexin43 (Cx43), was revealed by immunohistochemistry...
2023: Arkhiv Patologii
https://read.qxmd.com/read/37995093/performance-of-the-primacy-sudden-death-risk-prediction-model-for-childhood-hypertrophic-cardiomyopathy-implications-for-implantable-cardioverter-defibrillator-decision-making
#20
JOURNAL ARTICLE
Gabrielle Norrish, Alexandros Protonotarios, Maria Stec, Olga Boleti, Ella Field, Elena Cervi, Perry M Elliott, Juan P Kaski
AIMS: The validated HCM Risk-Kids model provides accurate individualized estimates of sudden cardiac death risk in children with hypertrophic cardiomyopathy (HCM). A second validated model, PRIMaCY, also provides individualized estimates of risk, but its performance and clinical impact has not been independently investigated. The aim of this study was to investigate the clinical impact of using the PRIMaCY sudden cardiac death (SCD) risk model in childhood HCM. METHODS AND RESULTS: The estimated 5-year SCD risk was calculated for children meeting diagnostic criteria for HCM in a large single-centre cohort using PRIMaCY (clinical and genetic) and HCM Risk-Kids model, and model performance was assessed...
November 2, 2023: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
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