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Article ; Online: Novel SCN5A gene mutation in a patient affected by multifocal ectopic premature Purkinje-related contractions syndrome.

Ventrella, Nicoletta / Bianchini, Lorenzo / Riva, Stefania / Pizzamiglio, Francesca / Dessanai, Maria Antonietta / Tundo, Fabrizio / Sattin, Tommaso / De Lio, Francesca / Cellucci, Selene / Tondo, Claudio

ESC heart failure

2024

Abstract: We report the case of a 36-year-old woman who presented to the emergency department complaining of palpitations and asthenia. Investigations showed frequent ventricular ectopy and severe left ventricular ejection fraction impairment. She was diagnosed ... ...

Abstract	We report the case of a 36-year-old woman who presented to the emergency department complaining of palpitations and asthenia. Investigations showed frequent ventricular ectopy and severe left ventricular ejection fraction impairment. She was diagnosed with a peculiar condition defined multifocal ectopic premature Purkinje-related contractions syndrome, which in some cases can be associated with a dilated cardiomyopathy phenotype. Genetic testing showed a novel mutation in the SCN5A gene (c.673C > G). In the context of acute left ventricular dysfunction in a young patient, we discuss the clinical presentation of this rare condition and its clinical management, as well as its genetic substrate.
Language	English
Publishing date	2024-03-19
Publishing country	England
Document type	Case Reports
ZDB-ID	2814355-3
ISSN	2055-5822 ; 2055-5822
ISSN (online)	2055-5822
ISSN	2055-5822
DOI	10.1002/ehf2.14677
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Article ; Online: Sudden Cardiac Death in Athletes: From the Basics to the Practical Work-Up.

Kochi, Adriano Nunes / Vettor, Giulia / Dessanai, Maria Antonietta / Pizzamiglio, Francesca / Tondo, Claudio

Medicina (Kaunas, Lithuania)

2021 Volume 57, Issue 2

Abstract: Sudden cardiac death in athletes is a relatively rare event, but due to the increasing number of individuals practicing high-performance sports, in absolute terms, it has become an important issue to be addressed. Since etiologies are many and the ... ...

Abstract	Sudden cardiac death in athletes is a relatively rare event, but due to the increasing number of individuals practicing high-performance sports, in absolute terms, it has become an important issue to be addressed. Since etiologies are many and the occurrence is rare, tracing the ideal preparticipation screening program is challenging. So far, as screening tools, a comprehensive clinical evaluation and a simple 12-lead electrocardiogram (ECG) seem to be the most cost-effective strategy. Recent technological advances came to significantly help as second-line investigation tools, especially the cardiac magnetic resonance, which allows for a more detailed ventricular evaluation, cardiac tissue characterization, and eliminates the poor acoustic window problem. This article aims to review all aspects related to sudden cardiac death in athletes, beginning with definitions and epidemiology, passing through etiology and clinical characteristics, then finishing with a discussion about the best ambulatory investigational approach.
MeSH term(s)	Athletes ; Death, Sudden, Cardiac/epidemiology ; Death, Sudden, Cardiac/etiology ; Death, Sudden, Cardiac/prevention & control ; Electrocardiography ; Humans ; Mass Screening
Language	English
Publishing date	2021-02-14
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2188113-3
ISSN	1648-9144 ; 1010-660X
ISSN (online)	1648-9144
ISSN	1010-660X
DOI	10.3390/medicina57020168
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Article ; Online: Pulsed-field ablation of pulmonary vein and left atrial posterior wall combined with left atrial appendage occlusion as single procedure.

Bianchini, Lorenzo / Moltrasio, Massimo / Fassini, Gaetano / Cellucci, Selene / Sicuso, Rita / Ribatti, Valentina / Dessanai, Maria Antonietta / Pizzamiglio, Francesca / Vettor, Giulia / Majocchi, Benedetta / Tundo, Fabrizio / Riva, Stefania / Carbucicchio, Corrado / Tondo, Claudio

Pacing and clinical electrophysiology : PACE

2023 Volume 47, Issue 5, Page(s) 691–693

Abstract: Pulmonary vein isolation and left atrial posterior wall ablation using the Farapulse system, followed by left atrial appendage occlusion, have been achieved as single combined procedure to treat long-standing persistent atrial fibrillation in a patient ... ...

Abstract	Pulmonary vein isolation and left atrial posterior wall ablation using the Farapulse system, followed by left atrial appendage occlusion, have been achieved as single combined procedure to treat long-standing persistent atrial fibrillation in a patient at high hemorrhagic risk.
MeSH term(s)	Humans ; Atrial Fibrillation/surgery ; Pulmonary Veins/surgery ; Atrial Appendage/surgery ; Catheter Ablation/methods ; Male ; Middle Aged ; Heart Atria/surgery
Language	English
Publishing date	2023-09-14
Publishing country	United States
Document type	Journal Article ; Case Reports
ZDB-ID	424437-0
ISSN	1540-8159 ; 0147-8389
ISSN (online)	1540-8159
ISSN	0147-8389
DOI	10.1111/pace.14823
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Article ; Online: S-ICD is effective in preventing sudden death in arrhythmogenic cardiomyopathy athletes during exercise.

Catto, Valentina / Dessanai, Maria Antonietta / Sommariva, Elena / Tondo, Claudio / Dello Russo, Antonio

Pacing and clinical electrophysiology : PACE

2019 Volume 42, Issue 9, Page(s) 1269–1272

Abstract: Here, we describe the cases of two elite athletes, with a diagnosis of arrhythmogenic cardiomyopathy (ACM), in which a subcutaneous implantable cardioverter defibrillator (S-ICD) has been implanted. Both patients experienced a ventricular tachycardia ... ...

Abstract	Here, we describe the cases of two elite athletes, with a diagnosis of arrhythmogenic cardiomyopathy (ACM), in which a subcutaneous implantable cardioverter defibrillator (S-ICD) has been implanted. Both patients experienced a ventricular tachycardia during exercise and received effective S-ICD shocks that interrupted arrhythmias. This report reveals for the first time that the S-ICD is effective in reverting arrhythmias in ACM patients, even during exercise. Moreover, these cases may confirm that competition/physical activity is associated with ICD shocks.
MeSH term(s)	Basketball ; Bicycling ; Death, Sudden, Cardiac/prevention & control ; Defibrillators, Implantable ; Exercise ; Humans ; Male ; Tachycardia, Ventricular/prevention & control ; Young Adult
Language	English
Publishing date	2019-05-13
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	424437-0
ISSN	1540-8159 ; 0147-8389
ISSN (online)	1540-8159
ISSN	0147-8389
DOI	10.1111/pace.13702
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Article ; Online: Prevalence and prognosis of structural heart disease among athletes with negative T waves and normal transthoracic echocardiography.

Clinical research in cardiology : official journal of the German Cardiac Society

2023 Volume 113, Issue 5, Page(s) 706–715

Abstract: Introduction: The aim of the present study was to evaluate the prevalence and prognosis of structural heart disease (SHD) among competitive athletes with negative T waves without pathological findings at transthoracic echocardiogram.: Methods: From a ...

Abstract	Introduction: The aim of the present study was to evaluate the prevalence and prognosis of structural heart disease (SHD) among competitive athletes with negative T waves without pathological findings at transthoracic echocardiogram. Methods: From a prospective register of 450 athletes consecutively evaluated during a second-level cardiological examination, we retrospectively identified all subjects with the following inclusion criteria: (1) not previously known cardiovascular disease; (2) negative T waves in leads other than V1-V2; (3) normal transthoracic echocardiogram. Patients underwent cardiac MRI and CT. The primary endpoint was the diagnosis of definite SHD after multimodality imaging evaluation. A follow-up was collected for a combined end-point of sudden death, resuscitated sudden cardiac death and hospitalization for any cardiovascular causes. Results: A total of 55 competitive athletes were finally enrolled (50 males, 90%) with a mean age of 27.5 ± 14.1 years. Among the population enrolled 16 (29.1%) athletes had a final diagnosis of SHD. At multivariate analysis, only deep negative T waves remained statistically significant [OR (95% CI) 7.81 (1.24-49.08), p = 0.0285]. Contemporary identification of deep negative T waves and complex arrhythmias in the same patients appeared to have an incremental diagnostic value. No events were collected at 49.3 ± 12.3 months of follow-up. Conclusions: In a cohort of athletes with negative T waves at ECG, cardiac MRI (and selected use of cardiac CT) enabled the identification of 16 (29.1%) subjects with SHD despite normal transthoracic echocardiography. Deep negative T waves and complex ventricular arrhythmias were the only clinical characteristic associated with SHD diagnosis.
MeSH term(s)	Male ; Humans ; Adolescent ; Young Adult ; Adult ; Retrospective Studies ; Prevalence ; Electrocardiography ; Heart Diseases/diagnosis ; Arrhythmias, Cardiac ; Death, Sudden, Cardiac/etiology ; Athletes ; Echocardiography/methods ; Prognosis
Language	English
Publishing date	2023-08-15
Publishing country	Germany
Document type	Journal Article
ZDB-ID	2213295-8
ISSN	1861-0692 ; 1861-0684
ISSN (online)	1861-0692
ISSN	1861-0684
DOI	10.1007/s00392-023-02282-5
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Article ; Online: Ventricular arrhythmias in athletes: Role of a comprehensive diagnostic workup.

Heart rhythm

2021 Volume 19, Issue 1, Page(s) 90–99

Abstract: Background: Ventricular arrhythmias (VAs) represent a critical issue with regard to sports eligibility assessment in athletes. The ideal diagnostic evaluation of competitive and leisure-time athletes with complex VAs has not been clearly defined.: ... ...

Abstract	Background: Ventricular arrhythmias (VAs) represent a critical issue with regard to sports eligibility assessment in athletes. The ideal diagnostic evaluation of competitive and leisure-time athletes with complex VAs has not been clearly defined. Objective: The purpose of this study was to assess the clinical implications of invasive electrophysiological assessments and endomyocardial biopsy (EMB) among athletes with VAs. Methods: We evaluated 227 consecutive athletes who presented to our institutions after being disqualified from participating in sports because of VAs. After noninvasive tests, electrophysiological study (EPS), electroanatomic mapping (EAM), and EAM- or cardiac magnetic resonance imaging-guided EMB was performed, following a prespecified protocol. Sports eligibility status was redefined at 6-month follow-up. Results: From our sample, 188 athletes (82.8%) underwent EAM and EPS, and 42 (15.2%) underwent EMB. A diagnosis of heart disease could be formulated in 30% of the study population (67/227; 95% confidence interval [CI] 0.24-0.36) after noninvasive tests; in 37% (83/227; 95% CI 31%-43%) after EPS and EAM; and in 45% (102/227; 95% CI 39%-51%) after EMB. In the subset of athletes undergoing EMB, invasive diagnostic workup allowed diagnostic reclassification of half of the athletes (n = 21 [50%]). Reclassification was particularly common among subjects without definitive findings after noninvasive evaluation (n = 23; 87% reclassified). History of syncope, abnormal echocardiogram, presence of late gadolinium enhancement, and abnormal EAM were linked to sports ineligibility at 6-month follow-up. Conclusion: A comprehensive invasive workup provided additional diagnostic elements and could improve the sports eligibility assessment of athletes presenting with VAs. The extensive invasive evaluation presented could be especially helpful when noninvasive tests show unclear findings.
MeSH term(s)	Adult ; Arrhythmogenic Right Ventricular Dysplasia/diagnosis ; Arrhythmogenic Right Ventricular Dysplasia/physiopathology ; Athletes ; Biopsy ; Electrophysiologic Techniques, Cardiac/methods ; Female ; Humans ; Male ; Retrospective Studies ; Tachycardia, Ventricular/diagnosis ; Tachycardia, Ventricular/physiopathology
Language	English
Publishing date	2021-09-15
Publishing country	United States
Document type	Journal Article ; Multicenter Study
ZDB-ID	2229357-7
ISSN	1556-3871 ; 1547-5271
ISSN (online)	1556-3871
ISSN	1547-5271
DOI	10.1016/j.hrthm.2021.09.013
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Article ; Online: Long-Term Outcomes of Near-Zero Radiation Ablation of Paroxysmal Supraventricular Tachycardia: A Comparison With Fluoroscopy-Guided Approach.

JACC. Clinical electrophysiology

2021 Volume 7, Issue 9, Page(s) 1108–1117

Abstract: Objectives: This study aimed to assess the long-term outcomes of minimally fluoroscopic approach (MFA) compared with conventional fluoroscopic ablation (ConvA) in terms of recurrences of arrhythmia and long-term complications.: Background: Catheter ... ...

Abstract	Objectives: This study aimed to assess the long-term outcomes of minimally fluoroscopic approach (MFA) compared with conventional fluoroscopic ablation (ConvA) in terms of recurrences of arrhythmia and long-term complications. Background: Catheter ablation (CA) of supraventricular tachycardia (SVT) with an MFA, under the guidance of electroanatomic mapping (EAM) systems, results in a significant reduction in exposure to ionizing radiations without impairing acute procedural success and complication rate. However, data regarding long-term outcomes of MFA compared with ConvA are lacking. Methods: This is a retrospective observational study. All patients undergoing MFA CA of SVT (atrioventricular nodal re-entrant tachycardia and atrioventricular re-entrant tachycardia) between 2010 and 2015 were enrolled and were compared with matched subjects (1 MFA: 2 ConvA) undergoing ConvA during the same period. The 2 co-primary outcomes were recurrence of arrhythmias and long-term complications. Results: A total of 618 patients (mean age 38 ± 15 years, 60% female) were enrolled. MFA included 206 patients, whereas 412 were treated with ConvA. Acute success (99% vs. 97%; p = 0.10) and acute complications (2.4% vs. 5.3%; p = 0.14) were similar in the 2 groups. During a median follow-up of 4.4 years, 5.9% of patients experienced recurrence of arrhythmias. At multivariate analysis, ConvA (hazard ratio [HR]: 3.03) and procedural success (HR: 0.10) were independently associated with recurrence of arrhythmias. Late complications (i.e., advance atrioventricular block and need for pacemaker implantation) occurred more frequently in ConvA (3.4% vs. 0.5%; p = 0.03) compared with MFA. Conclusions: CA guided by EAM systems with MFA provided better long-term results and reduced risk of complications compared with ConvA.
MeSH term(s)	Adult ; Catheter Ablation ; Female ; Fluoroscopy ; Humans ; Male ; Middle Aged ; Tachycardia, Supraventricular/surgery ; Tachycardia, Ventricular ; Treatment Outcome ; Young Adult
Language	English
Publishing date	2021-04-28
Publishing country	United States
Document type	Journal Article ; Observational Study
ZDB-ID	2846739-5
ISSN	2405-5018 ; 2405-500X ; 2405-500X
ISSN (online)	2405-5018 ; 2405-500X
ISSN	2405-500X
DOI	10.1016/j.jacep.2021.02.017
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Article ; Online: X-Ray Exposure in Cardiac Electrophysiology: A Retrospective Analysis in 8150 Patients Over 7 Years of Activity in a Modern, Large-Volume Laboratory.

Journal of the American Heart Association

2018 Volume 7, Issue 11

Abstract: Background: Only a few studies have systematically evaluated fluoroscopy data of electrophysiological and device implantation procedures. Aims of this study were to quantify ionizing radiation exposure for electrophysiological/device implantation ... ...

Abstract	Background: Only a few studies have systematically evaluated fluoroscopy data of electrophysiological and device implantation procedures. Aims of this study were to quantify ionizing radiation exposure for electrophysiological/device implantation procedures in a large series of patients and to analyze the x-ray exposure trend over years and radiation exposure in patients undergoing atrial fibrillation ablation considering different technical aspects. Methods and results: We performed a retrospective analysis of all electrophysiological/device implantation procedures performed during the past 7 years in a modern, large-volume laboratory. We reported complete fluoroscopy data on 8150 electrophysiological/device implantation procedures (6095 electrophysiological and 2055 device implantation procedures); for each type of procedure, effective dose and lifetime attributable risk of cancer incidence and mortality were calculated. Over the 7-year period, we observed a significant trend reduction in fluoroscopy time, dose area product, and effective dose for all electrophysiological procedures ( Conclusions: Electrophysiological procedures involve a nonnegligible x-ray use, leading to an increased risk of malignancy. Awareness of radiation-related risk, together with technological advances, can successfully optimize fluoroscopy use.
MeSH term(s)	Aged ; Arrhythmias, Cardiac/diagnosis ; Arrhythmias, Cardiac/therapy ; Cardiac Catheterization/adverse effects ; Catheter Ablation/adverse effects ; Cryosurgery/adverse effects ; Electrophysiologic Techniques, Cardiac/adverse effects ; Female ; Fluoroscopy/adverse effects ; Humans ; Male ; Middle Aged ; Occupational Exposure/adverse effects ; Occupational Health ; Operative Time ; Prosthesis Implantation/adverse effects ; Radiation Dosage ; Radiation Exposure/adverse effects ; Radiography, Interventional/adverse effects ; Retrospective Studies ; Risk Assessment ; Risk Factors ; Time Factors
Language	English
Publishing date	2018-05-22
Publishing country	England
Document type	Journal Article
ZDB-ID	2653953-6
ISSN	2047-9980 ; 2047-9980
ISSN (online)	2047-9980
ISSN	2047-9980
DOI	10.1161/JAHA.117.008233
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Article ; Online: Lesion index: a novel guide in the path of successful pulmonary vein isolation.

Journal of interventional cardiac electrophysiology : an international journal of arrhythmias and pacing

2018 Volume 55, Issue 1, Page(s) 27–34

Abstract: Purpose: Previous studies indicate force time integral (FTI) as a radiofrequency (RF) lesion quality marker, while not considering power supply. Tacticath™ Quartz catheter provides Lesion index (LSI), a lesion quality marker derived by contact force (CF) ...

Abstract	Purpose: Previous studies indicate force time integral (FTI) as a radiofrequency (RF) lesion quality marker, while not considering power supply. Tacticath™ Quartz catheter provides Lesion index (LSI), a lesion quality marker derived by contact force (CF), power supply, and RF time combined. Our aim is to assess LSI and FTI correlation and a LSI-related cutoff of atrial fibrillation (AF) recurrences 12 months after pulmonary vein isolation (PVI). Methods: We retrospectively enrolled 37 patients who underwent RF ablation using Tacticath™ Quartz catheter. AF recurrence rate was evaluated 3, 6, and 12 months after PVI procedure. Results: AF recurrence was detected in 32% of patients. FTI mean value was significantly lower in left superior pulmonary vein (LSPV: 256 ± 86 gs vs 329 ± 117 gs, p = 0.05) and right inferior pulmonary vein (RIPV: 253 ± 128 gs vs 394 ± 123 gs p = 0.006) in patients with AF recurrences; no significant differences were found in right superior pulmonary vein (RSPV) and left inferior pulmonary vein (LIPV). LSI instead was significantly higher for all veins in patients without AF recurrences: LSPV (5.2 ± 0.7 vs 4.6 ± 0.8, p = 0.03), LIPV (5.0 ± 0.8 vs 4.5 ± 0.6, p = 0.04), RSPV (5.5 ± 0.6 vs 5.1 ± 0.6, p = 0.05), and RIPV (5.5 ± 0.7 vs 4.7 ± 0.8, p = 0.006). Receiver operator characteristic curve suggests 5.3 as LSI overall cutoff value predicting freedom from disease at 1-year follow-up. Conclusions: Our preliminary data suggest that a LSI mean value higher than 5.3 can be considered a good predictor of AF freedom at 1-year follow-up.
MeSH term(s)	Atrial Fibrillation/surgery ; Echocardiography ; Electrocardiography ; Epicardial Mapping ; Female ; Humans ; Male ; Middle Aged ; Pulmonary Veins/surgery ; Radiofrequency Ablation/instrumentation ; Recurrence ; Retrospective Studies
Language	English
Publishing date	2018-12-04
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	1329179-8
ISSN	1572-8595 ; 1383-875X
ISSN (online)	1572-8595
ISSN	1383-875X
DOI	10.1007/s10840-018-0487-z
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