Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.ijcard.2012.12.078 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Generation of a CRISPR/Cas9-edited Plakoglobin (JUP) knock-out (JMUi001-A-4) iPSC line to model the cardiac phenotype of arrhythmogenic cardiomyopathy.
Stem Cell Res
December 2023
Comprehensive Heart Failure Center and Medicine I, University Hospital Würzburg, Würzburg, Germany. Electronic address:
Arrhythmogenic cardiomyopathy (ACM) represents the cardiac phenotype of Naxos disease, an autosomal recessive disease with an additional cutaneous phenotype. ACM is mainly caused by mutated desmosomal proteins, which are part of cardiac adherens junctions and provide mechanical and electrical stability. Here, we generated a knock-out (KO) of the junctional protein Plakoglobin (JUP-KO; JMUi001-A-4) using the CRISPR/Cas9 system in healthy control induced pluripotent stem cells (iPSCs, (JMUi001-A).
View Article and Find Full Text PDFCardiomyopathies in children: An overview.
Hellenic J Cardiol
November 2023
Unit of Inherited Cardiac Conditions and Sports Cardiology, 1st Department of Cardiology, National and Kapodistrian University of Athens, Athens, Greece. Electronic address:
Paediatric cardiomyopathies form a heterogeneous group of disorders characterized by structural and electrical abnormalities of the heart muscle, commonly due to a gene variant of the myocardial cell structure. Mostly inherited as a dominant or occasionally recessive trait, they might be part of a syndromic disorder of underlying metabolic or neuromuscular defects or combine early developing extracardiac abnormalities (i.e.
View Article and Find Full Text PDFCarvajal Syndrome- A Variant of Naxos Disease: A Case Report.
JNMA J Nepal Med Assoc
February 2022
Kanti Children's Hospital, Maharajgunj, Kathmandu, Nepal.
Carvajal syndrome is a rare variant of Naxos disease, a recessive mutation of the desmoplakin gene characterized by presence of woolly hair, palmoplantar keratoderma and dilated cardiomyopathy, mainly left ventricular involvement. The main clinical complication is progressive heart disease which may lead to heart failure and sudden cardiac death in childhood and adolescence. Cardiomyopathy is diagnosed by Task Force Criteria.
View Article and Find Full Text PDFArrhythmogenic Right Ventricular Cardiomyopathy in Pediatric Patients: An Important but Underrecognized Clinical Entity.
Front Pediatr
December 2021
Unit of Inherited and Rare Cardiovascular Diseases, Onassis Cardiac Surgery Center, Athens, Greece.
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiomyopathy characterized by fibrofatty infiltration of predominantly the right ventricular (RV) myocardium. Affected patients typically present as young adults with hemodynamically stable ventricular tachycardia, although pediatric cases are increasingly recognized. These young subjects often have a more severe phenotype with a high risk of sudden cardiac death (SCD) and progression toward heart failure.
View Article and Find Full Text PDFClinical and Molecular Aspects of Naxos Disease.
Heart Fail Clin
January 2022
Paediatric Clinic, Hora Naxos 84300, Greece. Electronic address:
Naxos disease is a recessively inherited pattern of arrhythmogenic cardiomyopathy with palmoplantar keratoderma and woolly hair. The causative mutation identified in plakoglobin protein gene indicated a potential role of the desmosomal protein complex as culprit for cardiomyopathy. In the context of a family, the early evident cutaneous features may serve as a clinical screening tool to spot arrhythmogenic cardiomyopathy in subclinical stage.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!