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Exploring the Familial Phenotypic Variability Associated With TTN Truncating Variants in Cardiomyopathies: Variant Spectrum, Genotype-Phenotype Correlation and Consequences in Genetic Counseling.
Clin Genet
January 2025
Sorbonne Université- DMU BioGem-Unité Fonctionnelle de Cardiogénétique et Myogénétique Moléculaire et Cellulaire, Service de Biochimie Métabolique, APHP-Hôpital Universitaire Pitié Salpêtrière, Paris, France.
Titin truncating variants (TTNtv) are the main genetic cause of dilated cardiomyopathies (DCMs). The phenotype and prognosis of probands have been evaluated in several large cohorts. However, few data are available on intrafamilial expressivity.
View Article and Find Full Text PDF[Role of ventricular tachycardia ablation in patients with systolic heart failure].
Herzschrittmacherther Elektrophysiol
January 2025
Sektion Rhythmologie, Klinik für Innere Medizin und Kardiologie, Herzzentrum Dresden, Medizinische Fakultät und Universitätsklinikum Carl Gustav Carus, Technische Universität Dresden, Fetscherstr. 76, 01307, Dresden, Deutschland.
Patients with systolic heart failure (HF) and structural heart disease often suffer from ventricular tachycardias (VTs), which lead to increased morbidity and mortality. Despite advancements in pharmacological therapy and the use of implantable cardioverter-defibrillators, treatment options are limited due to side effects and decreased effectiveness. Catheter ablation (CA) has emerged as a promising therapy for drug-refractory VTs, especially in patients with structural heart disease.
View Article and Find Full Text PDFWhich Brugada patient deserves continuous ECG monitoring through implantable loop recorder? An evidence update.
J Cardiovasc Med (Hagerstown)
February 2025
Division of Cardiology, Department of Pharmacy, Health and Nutritional Sciences, University of Calabria, Rende (CS).
Brugada syndrome (BrS) is a genetic condition that increases the risk of life-threatening arrhythmias, which can result in sudden cardiac death (SCD). Implantable loop recorders (ILRs) have become a key tool in managing patients with unexplained syncope, and guidelines advise their use in individuals with recurrent, unexplained syncope or palpitations. However, the role of ILRs in inherited arrhythmic conditions like BrS remains a topic of debate.
View Article and Find Full Text PDFPhysical cardiac rehabilitation effects on cardio-metabolic outcomes in the patients with hypertrophic cardiomyopathy: a systematic review.
Am J Cardiovasc Dis
December 2024
Cardiovascular Division, Brigham and Women's Hospital, Harvard Medical School Boston, MA, USA.
Objectives: This systematic review aimed to review existing evidence to evaluate the effects of physical cardiac rehabilitation on cardio-pulmonary outcomes in the patients with hypertrophic cardiomyopathy (HCM).
Methods: We conducted a systematic search of the databases PubMed, Web of Science, Embase, Scopus, and Google Scholar. The initial search led to 1222 citations after removing duplicate results.
2021 European Society of Cardiology guidelines on cardiac pacing and cardiac resynchronisation therapy : Statement of endorsement by the NVVC.
Neth Heart J
February 2025
Department of Cardiology, Cardiovascular Research Institute Maastricht, Maastricht University Medical Centre, Maastricht, The Netherlands.
The European Society of Cardiology (ESC) has updated its guidelines on cardiac pacing and cardiac resynchronisation. As the majority are class II recommendations (61%) and based on expert opinion (59%), a critical appraisal for the Dutch situation was warranted. A working group has been established, consisting of specialists in cardiology, cardiothoracic surgery, geriatrics, allied professionals in cardiac pacing, and patient organisations with support from the Knowledge Institute of the Dutch Association of Medical Specialists.
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