Cargando…

Impact of cardiovascular involvement on the clinical course of paediatric mitochondrial disorders

BACKGROUND: Primary mitochondrial disorders (PMD) are rare conditions resulting in progressive multi-organ failure. Cardiovascular involvement (CVI) has been reported in paediatric patients. However, its age-related prevalence, clinical presentation and prognostic impact are unresolved. We detailed...

Descripción completa

Detalles Bibliográficos
Autores principales:	Brambilla, Alice, Olivotto, Iacopo, Favilli, Silvia, Spaziani, Gaia, Passantino, Silvia, Procopio, Elena, Morrone, Amelia, Donati, Maria Alice
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2020
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7393884/ https://www.ncbi.nlm.nih.gov/pubmed/32736646 http://dx.doi.org/10.1186/s13023-020-01466-w

Ejemplares similares

Aortic Dilatation in Pediatric Patients with Bicuspid Aortic Valve: How the Choice of Nomograms May Change Prevalence
por: Spaziani, Gaia, et al.
Publicado: (2023)

Genetic Testing and Counselling in Hypertrophic Cardiomyopathy: Frequently Asked Questions
por: Girolami, Francesca, et al.
Publicado: (2023)

Multimodality imaging in complex aortic arch anomaly
por: Spaziani, Gaia, et al.
Publicado: (2022)

Neonatal heart failure and noncompaction/dilated cardiomyopathy from mucopolysaccharidosis. First description in literature
por: Miselli, Francesca, et al.
Publicado: (2021)

Advances in Stem Cell Modeling of Dystrophin-Associated Disease: Implications for the Wider World of Dilated Cardiomyopathy
por: Pioner, Josè Manuel, et al.
Publicado: (2020)

SARS-CoV-2 infection in a patient with propionic acidemia
por: Caciotti, Anna, et al.
Publicado: (2020)

A rare case of pediatric cardiomyopathy: Alström syndrome identified by gene panel analysis
por: Spinelli, Valentina, et al.
Publicado: (2020)

Determinants and Regression Equations for the Calculation of z Scores of Left Ventricular Tissue Doppler Longitudinal Indexes in a Healthy Italian Pediatric Population
por: Fibbi, Veronica, et al.
Publicado: (2015)

Differential Diagnosis between Marfan Syndrome and Loeys–Dietz Syndrome Type 4: A Novel Chromosomal Deletion Covering TGFB2
por: Nistri, Stefano, et al.
Publicado: (2021)

Acute Coronary Syndrome Treated with Percutaneous Coronary Intervention in Hutchinson–Gilford Progeria
por: De Simone, Luciano, et al.
Publicado: (2023)

High frequency of biotinidase deficiency in Italian population identified by newborn screening
por: Funghini, Silvia, et al.
Publicado: (2020)

Two-Dimensional Aortic Size Normalcy: A Novelty Detection Approach
por: Frasconi, Paolo, et al.
Publicado: (2021)

Bicuspid Aortic Valve in Children and Adolescents: A Comprehensive Review
por: Spaziani, Gaia, et al.
Publicado: (2022)

Transcatheter Treatment of Native Idiopathic Multiloculated Aortic Aneurysm Guided by 3D Printing Technology
por: Pizzuto, Alessandra, et al.
Publicado: (2022)

Supraventricular tachycardias in the first year of life: what is the best pharmacological treatment? 24 years of experience in a single centre
por: Capponi, Guglielmo, et al.
Publicado: (2021)

Case Report: Perioperative Kounis Syndrome in an Adolescent With Congenital Glaucoma
por: Capponi, Guglielmo, et al.
Publicado: (2021)

COVID-19 and paediatric patient involvement (cardiovascular aspects)
por: Müller, Jan, et al.
Publicado: (2020)

Genetic characterization of juvenile sudden cardiac arrest and death in Tuscany: The ToRSADE registry
por: Girolami, Francesca, et al.
Publicado: (2022)

Progressive myoclonus epilepsy in Gaucher Disease due to a new Gly–Gly mutation causing loss of an Exonic Splicing Enhancer
por: Tonin, Rodolfo, et al.
Publicado: (2018)

Osteopathic Manipulative Treatment in a Paediatric Patient with Oesophageal Atresia and Tracheo-Oesophageal Fistula
por: Barni, Alice, et al.
Publicado: (2019)

Procedures for the content, conduct and format of EULAR/PReS paediatric musculoskeletal ultrasound courses
por: Magni-Manzoni, Silvia, et al.
Publicado: (2022)

Real-World Use and Predictors of Response to Disopyramide in Patients with Obstructive Hypertrophic Cardiomyopathy
por: Maurizi, Niccolò, et al.
Publicado: (2023)

New clinical and molecular insights on Barth syndrome
por: Ferri, Lorenzo, et al.
Publicado: (2013)

Essential elements nurses have to address to promote a safe discharge in paediatrics: A systematic review and narrative synthesis
por: Rossi, Silvia, et al.
Publicado: (2023)

Peer Teaching in Paediatrics - Medical Students as Learners and Teachers on a Paediatric Course
por: Schauseil-Zipf, Ulrike, et al.
Publicado: (2010)

Defective IGF-1 prohormone N-glycosylation and reduced IGF-1 receptor signaling activation in congenital disorders of glycosylation
por: Di Patria, Laura, et al.
Publicado: (2022)

Late-Onset N-Acetylglutamate Synthase Deficiency: Report of a Paradigmatic Adult Case Presenting with Headaches and Review of the Literature
por: Cavicchi, Catia, et al.
Publicado: (2018)

Clinical relevance of short-chain acyl-CoA dehydrogenase (SCAD) deficiency: Exploring the role of new variants including the first SCAD-disease-causing allele carrying a synonymous mutation
por: Tonin, Rodolfo, et al.
Publicado: (2016)

The coronary microcirculation in sepsis: not of micro-importance
por: Argirò, Alessia, et al.
Publicado: (2020)

Cardiac Myosin Inhibitors as a Novel Treatment Option for Obstructive Hypertrophic Cardiomyopathy: Addressing the Core of the Matter
por: Masri, Ahmad, et al.
Publicado: (2022)

Paediatric long-term noninvasive ventilation: course report
por: Fauroux, Brigitte, et al.
Publicado: (2018)

International Paediatric Mitochondrial Disease Scale
por: Koene, Saskia, et al.
Publicado: (2016)

Myopathology of Adult and Paediatric Mitochondrial Diseases
por: Phadke, Rahul
Publicado: (2017)

Cardiopulmonary exercise testing for personalized job reintegration after acute cardiovascular attacks: a pilot cross-sectional study
por: Tanzi, Chiara, et al.
Publicado: (2020)

Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment
por: Cavicchi, Catia, et al.
Publicado: (2014)

Lysosomal storage disorders: Molecular basis and laboratory testing
por: Filocamo, Mirella, et al.
Publicado: (2011)

Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases
por: Ardissone, Anna, et al.
Publicado: (2021)

Movement Disorders in Children with a Mitochondrial Disease: A Cross-Sectional Survey from the Nationwide Italian Collaborative Network of Mitochondrial Diseases
por: Ticci, Chiara, et al.
Publicado: (2021)

INHERIT (INHibition of the renin angiotensin system in hypertrophic cardiomyopathy and the Effect on hypertrophy—a Randomised Intervention Trial with losartan)
por: Olivotto, Iacopo, et al.
Publicado: (2015)

Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome
por: Garone, Caterina, et al.
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_geo1jendlf8oltqvlbfrhfon7v