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http://dx.doi.org/10.1714/3689.36748 | DOI Listing |
Front Physiol
August 2025
Department of Electrophysiology, King Abdulaziz Cardiac Center, King Abdullah International Medical Research Center (KAIMRC), MNGHA, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
Background: Mitral valve prolapse (MVP) is a common condition, typically benign, but in a small subset of patients, it may lead to life-threatening arrhythmias and sudden cardiac death (SCD). This arrhythmogenic MVP phenotype is often associated with bileaflet prolapse, mitral annular disjunction (MAD), and myocardial fibrosis identified via late gadolinium enhancement (LGE) on cardiac MRI.
Case Summary: Our patient is a 49-year-old man presented with monomorphic ventricular tachycardia and near-syncope.
J Clin Med
August 2025
Department of Cardiac, Thoracic, and Vascular Sciences and Public Health, University of Padova, 35128 Padova, Italy.
Arrhythmogenic cardiomyopathy (ACM) is an inherited heart disorder characterized by structural and functional myocardial alterations, often accompanied by ventricular arrhythmias (VAs), which may ultimately result in sudden cardiac death (SCD). While mutations in genes coding for desmosomal components are commonly identified in affected individuals, genetic variants involving non-desmosomal proteins have recently been recognized as contributors to the disease's etiology. In 2008, a mutation in the transmembrane protein 43 () was identified as being responsible for a fully penetrant, sex-related, and severe form of ACM.
View Article and Find Full Text PDFJ Cardiovasc Electrophysiol
August 2025
Department of Cardiology, Division Heart & Lungs, University Medical Center Utrecht, Utrecht, the Netherlands.
Background: Advances in implantable cardioverter-defibrillator (ICD) programming strategies have achieved significant reductions in inappropriate shocks. However, further refinement is needed to minimize appropriate but unnecessary therapies. The ENHANCED-ICD study initially demonstrated the short-term safety and efficacy of programming a number of intervals to detect (NID) of 60/80 over a median follow-up of 1.
View Article and Find Full Text PDFNeurogenetics
August 2025
Human Genetics Lab, Altamedica Main Centre, Viale Liegi 45, Rome, 00198, Italy.
Type 2 Long QT Syndrome (type 2 LQTS) is a cardiac channelopathy caused by pathogenic variants in the KCNH2 gene, often associated with delayed cardiac repolarization and increased risk of arrhythmias. While its impact is traditionally considered cardiac, emerging studies suggest a potential role of KCNH2 dysfunction in neurogical disorders. We describe monozygotic twin sisters carrying the pathogenic frameshift variant KCNH2 c.
View Article and Find Full Text PDFJACC Case Rep
August 2025
First Coast Cardiovascular Institute, Jacksonville, Florida, USA.
Background: Brugada syndrome is a disorder associated with an increased risk of syncope, ventricular fibrillation, and sudden cardiac death in a structurally normal heart. The condition is related to mutations in cardiac cell transmembrane channels, but many cases do not have identifiable genetic mutations. Arrhythmic events are usually induced by specific triggers including a number of medications.
View Article and Find Full Text PDF