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Paediatric Cardiomyopathies

Paediatric Cardiomyopathies diagram by Kalumet

Paediatric cardiomyopathy and heart failure are distinct but frequently associated conditions, which have a high mortality. Here is the latest research.

Top 20 most recent papers
JACC. Clinical Electrophysiology

The Real-World Utility of the LINQ Implantable Loop Recorder in Pediatric and Adult Congenital Heart Patients

JACC. Clinical ElectrophysiologyFebruary 1, 2019
Vassilios J BezzeridesDouglas Y Mah

Novel frameshift variant in MYL2 reveals molecular differences between dominant and recessive forms of hypertrophic cardiomyopathy

bioRxivOctober 13, 2019
Sathiya N ManivannanVidu Garg
Genetics in Medicine : Official Journal of the American College of Medical Genetics

Clinical utility of exome sequencing in infantile heart failure

Genetics in Medicine : Official Journal of the American College of Medical GeneticsSeptember 17, 2019
Alyssa L RitterRebecca C Ahrens-Nicklas
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Desensitization of two young patients with infantile-onset Pompe disease and severe reactions to alglucosidase alfa

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyFebruary 20, 2019
V GragnanielloRoberto Della Casa
Cardiology in the Young

Incidental finding of type A aortic dissection in a paediatric heart transplant recipient

Cardiology in the YoungAugust 27, 2019
Laura D'AddeseKenneth G Zahka
Circulation. Genomic and Precision Medicine

Biallelic Variants in ASNA1 , Encoding a Cytosolic Targeting Factor of Tail-Anchored Proteins, Cause Rapidly Progressive Pediatric Cardiomyopathy

Circulation. Genomic and Precision MedicineAugust 29, 2019
Judith M A VerhagenIngrid M B H van de Laar
Frontiers in Immunology

A Computational Pipeline for the Diagnosis of CVID Patients

Frontiers in ImmunologyAugust 30, 2019
Annelies EmmaneelYvan Saeys

CRISPR-Cas9 generated Pompe knock-in murine model exhibits early-onset hypertrophic cardiomyopathy and skeletal muscle weakness

bioRxivSeptember 24, 2019
Jeffrey K HuangRaymond Yu Jeang Wang
NPJ Genomic Medicine

Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese

NPJ Genomic MedicineAugust 5, 2019
Mullin Ho-Chung YuBrian Hon Yin Chung
Cold Spring Harbor Molecular Case Studies

Siblings with lethal primary pulmonary hypoplasia and compound heterozygous variants in the AARS2 gene: further delineation of the phenotypic spectrum

Cold Spring Harbor Molecular Case StudiesMarch 2, 2019
Catherine Kiraly-BorriSaquib Ali Lakhani
Journal of Cardiothoracic and Vascular Anesthesia

Anesthesia in Pediatric Patients With Congenital Heart Disease Undergoing Noncardiac Surgery: Defining the Risk

Journal of Cardiothoracic and Vascular AnesthesiaJune 15, 2019
Morgan L BrownViviane G Nasr
Orphanet Journal of Rare Diseases

Effect and safety of treatment with ACE-inhibitor Enalapril and β-blocker metoprolol on the onset of left ventricular dysfunction in Duchenne muscular dystrophy - a randomized, double-blind, placebo-controlled trial

Orphanet Journal of Rare DiseasesMay 10, 2019
Sven DittrichGerman Competence Network for Congenital Heart Defects and the Treat-NMD Neuromuscular Network Investigators list of additional local Investigators and co-workers of the German Competence Network for Congenital Heart Defects and the Treat-NMD Neur
Annals of Translational Medicine

Variable clinical features and genotype-phenotype correlations in 18 patients with late-onset Pompe disease

Annals of Translational MedicineJuly 1, 2019
Jousef Alandy-DyVirginia E Kimonis
Pediatric Blood & Cancer

Regional practice norms for the care of childhood cancer survivors at risk for cardiomyopathy: A Delphi study

Pediatric Blood & CancerInvalid date
Lisa B KenneyAnju Nohria
Annals of Translational Medicine

Multisystem late onset Pompe disease (LOPD): an update on clinical aspects

Annals of Translational MedicineJuly 1, 2019
Antonio ToscanoOlimpia Musumeci
Journal of Intensive Care

Long-stay pediatric patients in Japanese intensive care units: their significant presence and a newly developed, simple predictive score

Journal of Intensive CareJuly 29, 2019
Emily KnaupJaRPAC Study Group
Vnitr̆ní lékar̆ství

Primary immunodeficiencies in adults

Vnitr̆ní lékar̆stvíJanuary 1, 2019
Jiri Litzman, Jirí Litzman
The Application of Clinical Genetics

Barth syndrome: mechanisms and management

The Application of Clinical GeneticsJune 5, 2019
Sinda Zarrouk-Mahjoub
Human Mutation

Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing

Human MutationMay 3, 2019
Makenzie SaouraMichal Minczuk
Current Treatment Options in Cardiovascular Medicine

Updates on the Genetic Paradigm in Heart Failure

Current Treatment Options in Cardiovascular MedicineJune 28, 2019
Andrew N Rosenbaum, Naveen L Pereira

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