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Priori S.G.,IRCCS Fondazione Salvatore Maugeri | Priori S.G.,University of Pavia | Priori S.G.,New York University
Circulation Research | Year: 2010

This article serves as an introductory overview to a thematic review series that will present the latest advancements in the field of inherited arrhythmias. This area of cardiac electrophysiology started approximately 15 years ago thanks to the contribution of Mark Keating and coworkers, who discovered the molecular basis of long QT syndrome. The field rapidly expanded when clinicians, molecular biologists, geneticists, and cellular electrophysiologists, who undertook an impressive collaborative effort to clarify the genetic basis of "cardiac channelopathies." As a result of this hard work, the paradigms for diagnosis and management of patients with inherited arrhythmogenic diseases were substantially modified, demonstrating once more the value of "translational research." As more and more genes have been implicated in the genesis of inherited arrhythmias, we keep broadening our understanding of the complexity of ion channels and their multifaceted regulatory processes. Despite the fact that several discoveries have already been made, the field is facing new challenges that are attracting young investigators who share with the pioneers the ambitious goal of finding new therapies and even a cure for these conditions. © 2010 American Heart Association. All rights reserved. Source

Scalvini S.,Telemedicine Service | Rivadossi F.,IRCCS Fondazione Salvatore Maugeri | Comini L.,Telemedicine Service | Muiesan M.L.,University of Brescia | Glisenti F.,A+ Network
Blood Pressure | Year: 2011

Rationale. To evaluate the feasibility of a second-opinion consultation in supporting general practitioners (GPs) during the daily diagnosis and therapeutic management of patients with essential hypertension. Methods. Italian GPs were encouraged to follow-up their patients by the use of the Telemedicine Service. All known hypertensive patients with signs and symptoms (teleconsultation for symptoms) and all asymptomatic patients (teleconsultation for clinical control) undergoing a visit by their GPs were enrolled. During the first visit, the GP performed electrocardiography (ECG), measured blood pressure and required cardiological teleconsultation. Results. 399 GPs examined 1719 consecutive patients (mean age 73±13 years, 38% male). During teleconsultation for a routine control, GPs identified 36% of new episodes of atrial fibrillation in the absence of any symptom and about 70% of patients with uncontrolled blood pressure. In about 50% of the cases, 10 min of teleconsultation helped GP to quicken the solution of the clinical problems, reducing time and number of specialist's visit. In 8% of cases, an emergency department admission was suggested. Conclusions. Telemedicine applied to hypertensive patients at high risk of cardiovascular problems offers to GPs an easy-to-use tool to control blood pressure by improving connection with second-opinion specialist consultations. © 2011 Scandinavian Foundation for Cardiovascular Research. Source

Denegri M.,Molecular Cardiology | Avelino-Cruz J.E.,Molecular Cardiology | Boncompagni S.,University of Chieti Pescara | De Simone S.A.,Molecular Cardiology | And 10 more authors.
Circulation Research | Year: 2012

RATIONALE:: Catecholaminergic polymorphic ventricular tachycardia is an inherited disease that predisposes to cardiac arrest and sudden death. The disease is associated with mutations in the genes encoding for the cardiac ryanodine receptor (RyR2) and cardiac calsequestrin (CASQ2). CASQ2 mutations lead to a major loss of CASQ2 monomers, possibly because of enhanced degradation of the mutant protein. The decrease of CASQ2 is associated with a reduction in the levels of Triadin (TrD) and Junctin (JnC), two proteins that form, with CASQ2 and RyR2, a macromolecular complex devoted to control of calcium release from the sarcoplasmic reticulum. OBJECTIVE:: We intended to evaluate whether viral gene transfer of wild-type CASQ2 may rescue the broad spectrum of abnormalities caused by mutant CASQ2. METHODS AND RESULTS:: We used an adeno-associated serotype 9 viral vector to express a green fluorescent protein-tagged CASQ2 construct. Twenty weeks after intraperitoneal injection of the vector in neonate CASQ2 KO mice, we observed normalization of the levels of calsequestrin, triadin, and junctin, rescue of electrophysiological and ultrastructural abnormalities caused by CASQ2 ablation, and lack of life-threatening arrhythmias. CONCLUSIONS:: We have proven the concept that induction of CASQ2 expression in knockout mice reverts the molecular, structural, and electric abnormalities and prevents life-threatening arrhythmias in CASQ2-defective catecholaminergic polymorphic ventricular tachycardia mice. These data support the view that development of CASQ2 viral gene transfer could have clinical application. © 2012 American Heart Association, Inc. Source

Diegoli M.,Center for Inherited Cardiovascular Diseases | Diegoli M.,University of Pavia | Grasso M.,Center for Inherited Cardiovascular Diseases | Favalli V.,Center for Inherited Cardiovascular Diseases | And 12 more authors.
Journal of the American College of Cardiology | Year: 2011

Objectives: We sought to describe the diagnostic work-up, phenotype, and long-term evolution of dilated cardiomyopathy (DCM) associated with Dystrophin (DYS) defects. Background: X-linked DCM associated with DYS defects can be clinically indistinguishable from other types of DCM. Methods: The series comprises 436 consecutive male patients diagnosed with DCM. Patients underwent endomyocardial biopsy (EMB). Genetic testing employed multiplex polymerase chain reaction and multiple ligation dependent probe assay for deletions and direct sequencing of the 79 exons and flanking regions of the gene for point mutations or small rearrangements. Results: We identified DYS defects in 34 of 436 patients (7.8%) (onset age 34 ± 11 years, age range 17 to 54 years); 30 had proven X-linked inheritance. The 2 phenotypes included DCM with mild skeletal myopathy and/or increased serum creatine phosphokinase (n = 28) or DCM only (n = 6). The EMB showed defective dystrophin immunostain. The DYS defects consisted of 21 in-frame deletions and 11 out-of-frame deletions as well as 1 stop and 1 splice-site mutation. During a median follow-up of 60 months (interquartile range: 11.25 to 101.34 months) we observed 17 events, all related to heart failure (HF) (median event-free survival: 83.5 months). Eight patients (23%) underwent transplantation, and 9 (26%) died of HF while waiting for transplantation. Eight patients received an implantable cardioverter- defibrillator, although none had device intervention during a median follow-up of 14 months (interquartile range: 5 to 25 months). No patient died suddenly, suffered syncope, or developed life-threatening ventricular arrhythmias. Conclusions: DYS-related DCM should be suspected in male patients with increased serum creatine phosphokinase (82%) and X-linked inheritance. The disease shows a high risk of end-stage HF but a lower risk of life-threatening arrhythmias. © 2011 American College of Cardiology Foundation. Source

Brunetti N.D.,University of Foggia | Scalvini S.,IRCCS Fondazione Salvatore Maugeri | Acquistapace F.,Istituto Clinico Cardiologico | Parati G.,University of Milan Bicocca | And 3 more authors.
International Journal of Cardiology | Year: 2015

Telemedicine is the provision of health care services, through the use of information and communication technology, in situationswhere the health care profeßional and the patient, or 2 health care profeßionals, are not in the same location. It involves the secure transmißion of medical data and information, through text, sound, images, or other forms needed for the prevention, diagnosis, treatment, and follow-up of a patient. First data on implementation of telemedicine for the diagnosis and treatment of acutemyocardial infarction date from more than 10 years ago. Telemedicine has a potential broad application to the cardiovascular disease continuum and inmany branches of cardiology, at least including heart failure, ischemic heart disease and arrhythmias. Telemedicine might have an important role as part of a strategy for the delivery of effective health care for patients with cardiovascular disease. In this document the Working Group on Telecardiology and Informatics of the Italian Society of Cardiology intends to remark some key-points regarding potential benefit achievable with the implementation of telemedicine support in the continuum of cardiovascular disease. © 2015 Elsevier Ireland Ltd. All rights reserved. Source

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