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| http://dx.doi.org/10.1186/s12967-024-05137-3 | DOI Listing |
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Four cardiomyopathy patients with a heterozygous DSG2 p.Arg119Ter variant.
Hum Genome Var
December 2024
Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine, Suita, Osaka, 565-0871, Japan.
DSG2, encoding desmoglein-2, is one of the causative genes of arrhythmogenic cardiomyopathy. We previously identified a homozygous DSG2 p.Arg119Ter stop-gain variant in a patient with juvenile-onset cardiomyopathy and advanced biventricular heart failure.
View Article and Find Full Text PDFCervical Artery Tortuosity Is Associated With Dissection Occurrence and Late Recurrence: A Nested Case-Control Study.
Stroke
December 2024
Department of Neurology, Medical University of Innsbruck, Austria. (L.M.-S., M.K., T.P., S.K., R.P.).
Background: The pathogenesis of spontaneous cervical artery dissection remains unclear, and no established predictors of recurrence exist. Our goal was to investigate the potential association between cervical artery tortuosity, a characteristic of patients with connective tissue disorder, and spontaneous cervical artery dissection.
Methods: The ReSect study (Risk Factors for Recurrent Cervical Artery Dissection) is an observational study that invited all spontaneous cervical artery dissection patients treated at the Innsbruck University Hospital between 1996 and 2018 for clinical and radiological follow-up.
Electrophysiological Phenotype-Genotype Study of Sustained Monomorphic Ventricular Tachycardia in Inherited, High Arrhythmic Risk, Left Ventricular Cardiomyopathy.
Circ Arrhythm Electrophysiol
December 2024
Instituto de Investigación Biosanitaria ibs.GRANADA and Virgen de las Nieves University Hospital, Cardiology Department, Granada, Spain (E.C.-B., F.J.B.-J., P.J.S.-M., M.M.-L., M.A.-L., R.M.-R., L.T.-S., J.J.-J.).
Background: Among inherited cardiomyopathies involving the left ventricle, whether dilated or not, certain genotypes carry a well-established arrhythmic risk, notably manifested as sustained monomorphic ventricular tachycardia (SMVT). Nonetheless, the precise localization and electrophysiological profile of this substrate remain undisclosed across different genotypes.
Methods: Patients diagnosed with cardiomyopathy and left ventricle involvement due to high-risk genetic variants and SMVT treated by electrophysiological study were recruited from 18 European/US centers.
Unlabelled: Desmosomes are essential cell-cell adhesion organelles that enable tension-prone tissue, like the skin and heart, withstand mechanical stress. Desmosomal anomalies are associated with numerous epidermal disorders and cardiomyopathies. Despite their critical role in maintaining tissue resilience, an understanding of how desmosomes respond to mechanical stimuli is lacking.
View Article and Find Full Text PDFPrevalence and Correlates of Anti-DSG2 Antibodies in Arrhythmogenic Right Ventricular Cardiomyopathy and Myocarditis: Immunological Insights from a Multicenter Study.
J Clin Med
November 2024
Cardiology, Department of Cardiac Thoracic Vascular Sciences and Public Health, University of Padova, Via Giustiniani 2, 35128 Padova, Italy.
Article Synopsis
- Autoantibodies against Desmoglein-2 (anti-DSG2-ab) were found in patients with Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) and myocarditis, indicating a potential link to immune responses against desmosomal proteins.
- The study aimed to evaluate the specificity of anti-DSG2-ab in ARVC, compare detection methods (ELISA vs. IFL), and identify clinical correlates related to these antibodies among various patient groups.
- In a cohort of patients, 56% of those with ARVC tested positive for anti-DSG2-ab, showing a higher rate of positivity in those also positive for anti-intercalated disk autoantibodies (A
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