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http://dx.doi.org/10.1016/j.hrcr.2025.01.019 | DOI Listing |
JACC Clin Electrophysiol
September 2025
Istituto Auxologico Italiano IRCCS, Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, Milano, Italy; Department of Medicine and Surgery, University of Milano-Bicocca, Milano, Italy. Electronic address:
Calmodulinopathies are very rare genetic disorders associated with a high risk for sudden cardiac death. Disease-causing variants in 1 of the 3 identical CALM genes cause severe forms of long QT syndrome, catecholaminergic polymorphic ventricular tachycardia, or idiopathic ventricular fibrillation, and there are many unanswered questions concerning management and underlying mechanisms. What is currently known depends largely on the initial publications from the ICamR (International Calmodulinopathy Registry).
View Article and Find Full Text PDFJACC Case Rep
August 2025
Department of Neuroscience, Imaging and Clinical Sciences, G. d'Annunzio University of Chieti-Pescara, Chieti, Italy; University Cardiology Division, SS Annunziata Polyclinic University Hospital, Chieti, Italy; Department of Clinical Sciences, Lund University, Malmö, Sweden. Electronic address: fab
Background: Imagenomics is an emerging clinical framework that combines advanced imaging and genetic profiling to refine risk stratification and advance precision medicine in the management of ventricular arrhythmias.
Case Summary: A 43-year-old woman presented with palpitations and presyncope. Ambulatory electrocardiogram revealed frequent premature ventricular contractions and nonsustained ventricular tachycardia, consistently initiated by a premature ventricular contraction with distinct morphology.
Circ Arrhythm Electrophysiol
August 2025
Department of Physiology and Cellular Biophysics, Clyde and Helen Wu Center for Molecular Cardiology, Vagelos College of Physicians and Surgeons, New York, NY (A.C., H.B., L.S., M.C.M., H.D., C.M., S.R., Y.L., Z.D., C.T., S.E., A.R.M.).
Background: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare inherited arrhythmia, with pathogenic variants in the gene responsible for 60% of clinically well-defined CPVT cases. Diagnosis of CPVT often occurs after a major cardiac event, posing a severe threat to the patient's life. A data set of patients with CPVT would improve the diagnosis and treatment of patients with CPVT.
View Article and Find Full Text PDFAm J Physiol Cell Physiol
August 2025
Department of Biomedical Sciences, University of Padova, Italy.
Inherited arrhythmogenic syndromes encompass a spectrum of genetic cardiac disorders unified by heightened vulnerability to sympathetic stimulation and risk of sudden cardiac death. Traditionally categorized as either functional (e.g.
View Article and Find Full Text PDFMed Sci (Basel)
July 2025
Second Department of Cardiology, Hippokration General Hospital, Aristotle University of Thessaloniki, 54642 Thessaloniki, Greece.
Cardiac arrhythmias remain a major source of morbidity and mortality, often stemming from molecular and structural abnormalities that are insufficiently addressed by current pharmacologic and interventional therapies. Gene therapy has emerged as a transformative approach, offering precise and durable interventions that directly target the arrhythmogenic substrate. Across the spectrum of inherited and acquired arrhythmias-including long QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, atrial fibrillation, and post-infarction ventricular tachycardia-gene-based strategies such as allele-specific silencing, gene replacement, CRISPR-mediated editing, and suppression-and-replacement constructs are showing growing translational potential.
View Article and Find Full Text PDF