Publications by authors named "Maurizio Pieroni"

120 Publications

Myocardial infarction with non-obstructive coronary arteries in hypertrophic cardiomyopathy vs Fabry disease.

Int J Cardiol 2022 Aug 2. Epub 2022 Aug 2.

Department of Cardiovascular Medicine, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy; Catholic University of the Sacred Heart, Rome, Italy.

Background: Little is known about prevalence and predictors of myocardial infarction with non-obstructive coronary arteries (MINOCA) in Fabry disease (FD) and hypertrophic cardiomyopathy (HCM). We assessed and compared the prevalence and predictors of MINOCA in a large cohort of HCM and FD patients.

Methods: In this multicenter, retrospective study we enrolled 2870 adult patients with HCM and 267 with FD. The only exclusion criterion was documented obstructive coronary artery disease. MINOCA was defined according to guidelines. For each patient we collected clinical, ECG and echocardiographic data recorded at initial evaluation.

Results: Overall, 36 patients had MINOCA during a follow-up period of 4.5 ± 11.2 years, MINOCA occurred in 16 patients with HCM (0.5%) and 20 patients with FD (7.5%; p < 0.001). The difference between the 2 groups was highly significant, also after adjustment for the main clinical, ECG and echocardiographic variables (OR 6.12;95%CI:2.80-13.3;p < 0.001). In the FD population MINOCA occurred in 17 out of 96 patients with left ventricle hypertrophy (LVH, 17.7%) and in 3 out of 171 patients without LVH (1.7%; OR 12.0;95%CI 3.43-42.3;p < 0.001). At multivariable analysis, voltage criteria for LVH at ECG (OR 7.3;95%CI 1.93-27.7;p = 0.003) and maximal LV wall thickness at echocardiography (OR 1.15; 95%CI 1.05-1.27;p = 0.002) maintained an independent association with MINOCA. No major significant differences were found in clinical, ECG and echocardiographic findings between HCM patients with or without MINOCA.

Conclusions: MINOCA was rare in HCM patients, and 6-fold more frequent in FD patients. MINOCA may be considered a red flag for FD and aid in the differential diagnosis from HCM.
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http://dx.doi.org/10.1016/j.ijcard.2022.07.046DOI Listing
August 2022

Drug-Eluting Balloon for Below the Knee Angioplasty: Five-Year Outcome of the DEBATE-BTK Randomized Clinical Trial.

Cardiovasc Intervent Radiol 2022 Jun 21;45(6):761-769. Epub 2022 Mar 21.

Cardiovascular Department, San Donato Hospital, via Pietro Nenni 20, 52100, Arezzo, Italy.

Background: The aim of this study is to evaluate the 5-year clinical outcome of the DEBATE-BTK (Drug-eluting balloon for below-the-knee angioplasty evaluation) trial.

Methods: The DEBATE-BTK was a single-center, randomized trial that enrolled 132 diabetic patients with critical limb ischemia. Subjects were randomized 1:1 to DCB or plain old balloon angioplasty (POBA). Major clinical endpoints were, freedom from all-cause death, freedom from clinically driven target lesion revascularization (CDTLR) and the occurrence of major amputation. Additional analysis were conducted to assess overall survival in patients treated with DCB compared to those treated with only POBA in the entire 5-years period and to test the correlation between paclitaxel dose exposure (in terciles) and overall survival.

Results: Freedom from all-cause death at 5 years was 63.1% (41/65) in DCB vs. 53.7%(35/67) POBA patients (p = 0.4). Freedom from CDTLR was 82% in DCB and 63% in POBA patients (p = 0.002) at 1 year and 63 versus 54% at 5 years respectively P = 0.07. One patient in DCB and 2 patients in POBA underwent a major amputation of the target limb. During the 5-year follow-up, 24 patients originally randomized to POBA received DCB treatment for additional limb revascularization. According to DCB treatment in all the 5 years period, overall survival was 66.3.% (30/89) in DCB versus 40%(26/43) in POBA patients, p = 0.003.

Conclusions: Overall survival at 5-year was similar in DCB treated patients compared to POBA. Moreover, survival was higher in patients that received DCB angioplasty at any time of the 5 years period.

Level Of Evidence: Level 1b, Individual inception cohort study with > 80% follow-up.
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http://dx.doi.org/10.1007/s00270-022-03104-3DOI Listing
June 2022

State-of-the-Art of Endomyocardial Biopsy on Acute Myocarditis and Chronic Inflammatory Cardiomyopathy.

Curr Cardiol Rep 2022 05 24;24(5):597-609. Epub 2022 Feb 24.

Cardiovascular Department, ASL8 Arezzo San Donato Hospital, Arezzo, Italy.

Purpose Of Review: Histologic evidence of myocardial inflammatory infiltrate not secondary to an ischemic injury is required by current diagnostic criteria to reach a definite diagnosis of myocarditis. Endomyocardial biopsy (EMB) is therefore often indicated for the diagnosis of myocarditis, although it may lack sufficient sensitivity considering the limited possibility of myocardial sampling. Improving the diagnostic yield and utility of EMB is of high priority in the fields of heart failure cardiology and myocarditis in particular. The aim of the present review is to highlight indications, strengths, and shortcomings of current EMB techniques, and discuss innovations currently being tested in ongoing clinical studies, especially in the setting of acute myocarditis and chronic inflammatory cardiomyopathy.

Recent Findings: EMB provides unique diagnostic elements and prognostic information which can effectively guide the treatment of myocarditis. Issues affecting the diagnostic performance in the setting of acute myocarditis and chronic inflammatory cardiomyopathies will be discussed in this review in the light of recent expert consensus documents on the management of these conditions and on indication to EMB. Recent innovations using electroanatomic mapping (EAM)-guided EMB and fluoroscopic-guided EMB during temporary mechanical circulatory support have improved the utility of the procedure. EMB remains an important diagnostic test whose results need to be interpreted in the context of (1) clinical pre-test probability, (2) timing of sampling, (3) quality of sampling (4) site of sampling, (5) histologic type of myocarditis, and (6) analytic methods that are applied. Herein we will review these caveats as well as perspectives and innovations related to the use of this diagnostic tool.
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http://dx.doi.org/10.1007/s11886-022-01680-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8866555PMC
May 2022

Multimodality Imaging Assessment and Follow-Up in a Case of Rickettsial Myocarditis: Echocardiographic and Cardiac Magnetic Resonance Features.

Circ Cardiovasc Imaging 2021 12 8;14(12):1151-1154. Epub 2021 Dec 8.

Cardiovascular, Neurological and Respiratory Department, San Donato Hospital, Arezzo, Italy.

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http://dx.doi.org/10.1161/CIRCIMAGING.121.013481DOI Listing
December 2021

Diagnosis and Management of Cardiovascular Involvement in Fabry Disease.

Heart Fail Clin 2022 Jan 25;18(1):39-49. Epub 2021 Oct 25.

Department of Translational Medical Sciences, University of Campania "Luigi Vanvitelli", Via L. Bianchi, Naples 80131, Italy; Institute of Cardiovascular Sciences, University College of London and St. Bartholomew's Hospital, Grower Street, London WC1E 6DD, UK. Electronic address:

Fabry disease (FD, OMIM 301500) is an X-linked lysosomal storage disease caused by pathogenic variants in the GLA gene. Cardiac involvement is common in FD and is responsible for impaired quality of life and premature death. The classic cardiac involvement is a nonobstructive form of hypertrophic cardiomyopathy, usually manifesting as concentric left ventricular hypertrophy, with subsequent arrhythmogenic intramural fibrosis. Treatment of patients with FD should be directed to prevent the disease progression to irreversible organ damage and organ failure. The aim of this review is to describe the current state of knowledge regarding cardiovascular involvement in FD, focusing on clinical and instrumental features, cardiovascular management, and targeted therapy.
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http://dx.doi.org/10.1016/j.hfc.2021.07.005DOI Listing
January 2022

Syndrome of Reversible Cardiogenic Shock and Left Ventricular Ballooning in Obstructive Hypertrophic Cardiomyopathy.

J Am Heart Assoc 2021 10 12;10(20):e021141. Epub 2021 Oct 12.

Mount Sinai West New York NY.

Background Cardiogenic shock from most causes has unfavorable prognosis. Hypertrophic cardiomyopathy (HCM) can uncommonly present with apical ballooning and shock in association with sudden development of severe and unrelenting left ventricular (LV) outflow obstruction. Typical HCM phenotypic features of mild septal thickening, outflow gradients, and distinctive mitral abnormalities differentiate these patients from others with Takotsubo syndrome, who have normal mitral valves and no outflow obstruction. Methods and Results We analyzed 8 patients from our 4 HCM centers with obstructive HCM and abrupt presentation of cardiogenic shock with LV ballooning, and 6 cases reported in literature. Of 14 patients, 10 (71%) were women, aged 66±9 years, presenting with acute symptoms: LV ballooning; depressed ejection fraction (25±5%); refractory systemic hypotension; marked LV outflow tract obstruction (peak gradient, 94±28 mm Hg); and elevated troponin, but absence of atherosclerotic coronary disease. Shock was managed with intravenous administration of phenylephrine (n=6), norepinephrine (n=6), β-blocker (n=7), and vasopressin (n=1). Mechanical circulatory support was required in 8, including intra-aortic balloon pump (n=4), venoarterial extracorporeal membrane oxygenation (n=3), and Impella and Tandem Heart in 1 each. In refractory shock, urgent relief of obstruction by myectomy was performed in 5, and alcohol ablation in 1. All patients survived their critical illness, with full recovery of systolic function. Conclusions When cardiogenic shock and LV ballooning occur in obstructive HCM, they are marked by distinctive anatomic and physiologic features. Relief of obstruction with targeted pharmacotherapy, mechanical circulatory support, and myectomy, when necessary for refractory shock, may lead to survival and normalization of systolic function.
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http://dx.doi.org/10.1161/JAHA.121.021141DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8751867PMC
October 2021

Role of serial cardiac F-FDG PET-MRI in Anderson-Fabry disease: a pilot study.

Insights Imaging 2021 Sep 6;12(1):124. Epub 2021 Sep 6.

Department of Advanced Biomedical Sciences, University Federico II, Via Pansini 5, 80131, Naples, Italy.

Aim: We investigated the value of serial cardiac F-FDG PET-MRI in Anderson-Fabry disease (AFD) and the potential relationship of imaging results with FASTEX score.

Methods And Results: Thirteen AFD patients underwent cardiac F-FDG PET-MRI at baseline and follow-up. Coefficient of variation (COV) of FDG uptake and FASTEX score were assessed. At baseline, 9 patients were enzyme replacement therapy (ERT) naïve and 4 patients were under treatment. Two patients presented a FASTEX score of 0 indicating stable disease and did not show any imaging abnormality at baseline and follow-up PET-MRI. Eleven patients had a FASTEX score > 20% indicating disease worsening. Four of these patients without late gadolinium enhancement (LGE) and with normal COV at baseline and follow-up had a FASTEX score of 35%. Three patients without LGE and with abnormal COV at baseline and follow-up had a FASTEX score ranging from 30 to 70%. Three patients with LGE and abnormal COV at baseline and follow-up had a FASTEX score between 35 and 75%. Finally, one patient with LGE and normal COV had a FASTEX score of 100%. Of the 12 patients on ERT at follow-up, FASTEX score was significantly higher in those 4 showing irreversible cardiac injury at baseline compared to 8 with negative LGE (66 ± 24 vs. 32 ± 21, p = 0.03).

Conclusion: F-FDG PET-MRI may be effective to monitor cardiac involvement in AFD.
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http://dx.doi.org/10.1186/s13244-021-01067-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8421465PMC
September 2021

Cardiogenic Shock in Obstructive Hypertrophic Cardiomyopathy Plus Apical Ballooning: Management With VA-ECMO and Myectomy.

JACC Case Rep 2021 Mar 17;3(3):433-437. Epub 2021 Mar 17.

Cardiac Intensive Care Unit, Careggi University Hospital, Florence, Italy.

A patient with known obstructive hypertrophic cardiomyopathy developed worsening left ventricular outflow tract obstruction, severe mitral regurgitation, and apical ballooning leading to cardiogenic shock, a combination in which treatment of each component could worsen the others. Emergency veno-arterial extracorporeal membrane oxygenation, levosimendan, and noradrenaline transiently restored adequate systemic perfusion and gas exchange. Surgical myectomy offered a more definitive solution. ().
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http://dx.doi.org/10.1016/j.jaccas.2020.11.029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8311032PMC
March 2021

[Approach to the diagnosis and management of patients with cardiac amyloidosis. A consensus document by the Tuscan section of the Italian Association of Hospital Cardiologists (ANMCO) and the Tusco-Umbrian section of the Italian Society of Cardiology (SIC)].

G Ital Cardiol (Rome) 2021 Aug;22(8):621-634

U.O.C. Cardiologia, Ospedale della Versilia, Lido di Camaiore (LU).

The diagnosis of cardiac amyloidosis (CA) is challenging because of its phenotypic heterogeneity, multi-organ involvement often requiring the interaction among experts in different specialties and subspecialties, the lack of a single non-invasive diagnostic tool, and limited awareness in the medical community. Recent studies have challenged the dogma of CA as a rare, incurable disease, and have redefined the epidemiology and therapeutic options for this condition. Missing or delaying the diagnosis may have a profound impact on patient outcome, as potentially life-saving treatments may be omitted or delayed, particularly chemotherapy in the case of amyloid light-chain amyloidosis. For a timely identification, clinical cardiologists should be able to recognize the "red flags" prompting a dedicated diagnostic work-up. Cardiologists could also face the challenge of making decisions about drug and device therapies for patients with known CA. The present consensus document aims to provide a practical guide and an organizational framework for professionals belonging to the Tuscan network of hospital cardiologists.
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http://dx.doi.org/10.1714/3641.36218DOI Listing
August 2021

ECG-based score estimates the probability to detect Fabry Disease cardiac involvement.

Int J Cardiol 2021 09 16;339:110-117. Epub 2021 Jul 16.

Multimodality Cardiac Imaging Section, IRCCS Policlinico San Donato, San Donato Milanese, Italy. Electronic address:

Objectives: To elaborate an ECG-based nomogram estimating the probability to detect cardiac involvement by cardiac magnetic resonance (CMR) in Fabry Disease (FD).

Methods: 119 FD patients and 26 healthy controls underwent ECG and CMR. Test (n = 88, 60%) and validation cohorts (n = 57, 40%) were randomly derived. Cardiac involvement was defined as the presence of low myocardial T1 value, a CMR-surrogate of myocardial glycosphingolipid storage. ECG changes associated with low T1 value were identified in the test cohort, included in the nomogram and then tested in the validation cohort.

Results: Sokolow-Lyon index (AUC = 0.769), ratio between P-wave and PR-segment durations (Pwave/PRsegment) (AUC = 0.778), QRS duration (AUC = 0.703), QT (AUC = 0.769) duration were independently associated with the presence of low T1 on CMR at multivariate analysis. An ECG-based nomogram including these four parameters was accurate in identifying patients with CMR evidence of glycosphingolipid storage (c-index of the derived-nomogram = 0.90 in the test group; 0.81 in the validation group).

Conclusion: We propose a practical ECG-based nomogram accurately estimating the probability to detect low T1 values by CMR in FD patients. The application of this tool in clinical practice could improve early detection of FD cardiac involvement.
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http://dx.doi.org/10.1016/j.ijcard.2021.07.022DOI Listing
September 2021

Long-term mortality in patients undergoing lower-limb revascularization with Paclitaxel eluting devices.

Int J Cardiol 2021 Sep 30;339:150-157. Epub 2021 Jun 30.

Cardiovascular and Neurologic Department, San Donato Hospital, Arezzo, Italy.

Background: Paclitaxel-eluting devices (PED) reduce restenosis and target lesion revascularization (TLR) in femoropopliteal intervention. Recent data suggest a two-fold increased long-term mortality in patients treated with PED. The aim of our study is to evaluate if endovascular therapy (EVT) with PED increases mortality risk in patients with symptomatic lower limb peripheral artery disease (PAD) compared to non-eluting devices (NED).

Methods: The study is a retrospective, single-center registry on patients undergoing EVT for PAD from January 2009 to June 2018. Propensity score analysis on logistic regression model for independent predictors of long-term mortality was used to match PED and NED patients. Mortality was assessed at 2, 5 and 7 years in the entired matched population and in a sub-group of patients ≤75 years.

Results: During the study period, 1294 patients, 718 NED and 576 PED, met the inclusion/exclusion criteria and entered in the study. Propensity score matching analysis identified 854 matched patients, 414 PED and 440 NED. The population was mainly characterized by diabetic patients with CLI (80%) and high prevalence of CAD (30%), heart failure (15%) and renal insufficiency (20%). Mean follow-up length was 58 ± 34 months, (median 52.5). Mortality was 18% in NED vs 12% in PED patients at two years (p = 0.01), 36% vs 30% at 5 years (p = 0.03) and 41% vs 39% at seven years (p = 0.2) respectively. In patients ≤75 years, mortality at 7-year was 28% in PED vs 36% in NED, p = 0.07.

Conclusion: These results suggest a reduced mortality at 2 and 5 years with PED as compare to NED treatment in a real-world CLI scenario. At 7-year follow-up, the advantage was numerically evident only in patients ≤75 years.
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http://dx.doi.org/10.1016/j.ijcard.2021.06.049DOI Listing
September 2021

Cytosorb treatment in severe COVID-19 cardiac and pulmonary disease.

Eur Heart J Case Rep 2021 Apr 12;5(4):ytab123. Epub 2021 Apr 12.

Cardiovascular, Respiratory and Neurological Department, Via Pietro Nenni 22, San Donato Hospital, Arezzo 52100, Italy.

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http://dx.doi.org/10.1093/ehjcr/ytab123DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8039116PMC
April 2021

Cardiac Involvement in Fabry Disease: JACC Review Topic of the Week.

J Am Coll Cardiol 2021 02;77(7):922-936

Hôpitaux Universitaires de Genève, Genève, Switzerland.

Fabry disease (FD) is a rare X-linked inherited lysosomal storage disorder caused by deficient α-galactosidase A activity that leads to an accumulation of globotriasylceramide (Gb3) in affected tissues, including the heart. Cardiovascular involvement usually manifests as left ventricular hypertrophy, myocardial fibrosis, heart failure, and arrhythmias, which limit quality of life and represent the most common causes of death. Following the introduction of enzyme replacement therapy, early diagnosis and treatment have become essential to slow disease progression and prevent major cardiac complications. Recent advances in the understanding of FD pathophysiology suggest that in addition to Gb3 accumulation, other mechanisms contribute to the development of Fabry cardiomyopathy. Progress in imaging techniques have improved diagnosis and staging of FD-related cardiac disease, suggesting a central role for myocardial inflammation and setting the stage for further research. In addition, with the recent approval of oral chaperone therapy and new treatment developments, the FD-specific treatment landscape is rapidly evolving.
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http://dx.doi.org/10.1016/j.jacc.2020.12.024DOI Listing
February 2021

Right ventricular strain in Anderson-Fabry disease.

Int J Cardiol 2021 05 15;330:84-90. Epub 2021 Feb 15.

Department of Cardiovascular and Thoracic Sciences, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy; Catholic University of the Sacred Heart, Rome, Italy.

Background: 2D speckle tracking echocardiography (2DSTE) is superior to standard echocardiography in the assessment of subtle right ventricle (RV) systolic dysfunction. In this study we aimed to: 1) test the hypothesis that 2DSTE may unveil subtle RV systolic dysfunction in patients with Fabry disease; 2) investigate whether the physiologic difference between the 3-segment (RV-FWS) and the 6-segment (RV-GLS) RV strain (∆RV strain) is preserved in Fabry patients.

Methods And Results: Standard echocardiography and 2DSTE were performed in 49 Fabry patients and 49 age- and sex-matched healthy controls. Fabry patients were divided in two groups according to the presence/absence of left ventricular hypertrophy (LVH+: left ventricular wall thickness > 12 mm, 49% of total Fabry patients). RV systolic function assessed by standard echocardiography was normal in the majority of Fabry patients (92%) while RV-GLS and RV-FWS were impaired in about 40%. RV-GLS and RV-FWS were significantly worse in patients LVH+ vs LVH- and vs controls (RV-GLS: LVH+ vs LVH-: -18.4 ± -4.3% vs -23.8 ± -3.1% p<0.001; LVH+ vs controls: -18.4 ± -4.3% vs -23.9 ± -2.8% p<0.001; RV-FWS: LVH+ vs LVH-: -21.8 ± -5.3% vs -26.7 ± -3.8% p = 0.002, LVH+ vs controls -21.8 ± -5.3% vs -26.8 ± -3.9% p<0.001). No difference was found between LVH- patients and controls in both RV-GLS (p = 0.65) and RV-FWS (p = 0.79). ∆RV strain was similar among the groups.

Conclusions: In Fabry cardiomyopathy impaired RV-GLS and RV-FWS is a common finding, while RV strain is preserved in Fabry patients without overt cardiac involvement. The physiologic difference between RV-FWS and RV-GLS is maintained in Fabry patients, regardless of the presence of cardiomyopathy.
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http://dx.doi.org/10.1016/j.ijcard.2021.02.038DOI Listing
May 2021

Assessment of patients presenting with life-threatening ventricular arrhythmias and suspected myocarditis: The key role of endomyocardial biopsy.

Heart Rhythm 2021 06 29;18(6):907-915. Epub 2021 Jan 29.

Dipartimento di Scienze Cardiovascolari, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy; Istituto di Cardiologia, Università Cattolica del Sacro Cuore, Rome, Italy.

Background: Life-threatening ventricular tachyarrhythmias (VAs) represent a significant cause of death in myocarditis.

Objective: The purpose of this study was to identify predictors of sustained VAs in patients with myocarditis and ventricular phenotype diagnosed by workflow including endomyocardial biopsy (EMB) guided by 3D electroanatomic mapping (3D-EAM).

Methods: We prospectively enrolled patients with suspected myocarditis and VAs, undergoing cardiac magnetic resonance imaging, coronary angiography, 3D-EAM, and EMB guided by 3D-EAM. At follow-up, sustained VAs were detected by device interrogation and 24-hour electrocardiographic Holter monitoring.

Results: We enrolled 54 consecutive patients (mean age 41 ± 14 years; 32(59%) men) with normal ventricular function; left ventricular and right ventricular (RV) late gadolinium enhancement was present, respectively, in 21 (46%) and 6 (13%) of the 46 patients who underwent cardiac magnetic resonance. In 31 patients, the histological diagnosis was myocarditis, while in 14 patients, focal replacement myocardial fibrosis (FRMF); in 9 patients, specimens were inadequate (diagnostic yield of EMB 83%). 3D-EAM showed a larger endocardial scar area for both ventricles in myocarditis than in FRMF (RV bipolar mean scar area 22 ± 16 cm vs 3 ± 2 cm; P = .02; left ventricular bipolar mean scar area 13 ± 5 cm vs 4 ± 2 cm; P = .02, respectively). At a follow-up of 21 months, freedom from sustained VAs was 58% in myocarditis and 92% in FRMF (log-rank, P = .008). Histological diagnosis of myocarditis and RV endocardial scar were independent predictors of sustained VAs (P = .02 for both).

Conclusion: Our data highlight the need for 3D-EAM-guided EMB in apparently healthy young patients with suspected myocarditis and VAs.
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http://dx.doi.org/10.1016/j.hrthm.2021.01.025DOI Listing
June 2021

Trabecular complexity as an early marker of cardiac involvement in Fabry disease.

Eur Heart J Cardiovasc Imaging 2022 01;23(2):200-208

Multimodality Cardiac Imaging Section, IRCCS Policlinico San Donato, San Donato Milanese, Via Morandi 30, Milan 20097, Italy.

Aims: Fabry cardiomyopathy is characterized by glycosphingolipid storage and increased myocardial trabeculation has also been demonstrated. This study aimed to explore by cardiac magnetic resonance whether myocardial trabecular complexity, quantified by endocardial border fractal analysis, tracks phenotype evolution in Fabry cardiomyopathy.

Methods And Results: Study population included 20 healthy controls (12 males, age 32±9) and 45 Fabry patients divided into three groups: 15 left ventricular hypertrophy (LVH)-negative patients with normal T1 (5 males, age 28±13; Group 1); 15 LVH-negative patients with low T1 (9 males, age 33±9.6; Group 2); 15 LVH-positive patients (11 males, age 53.5±9.6; Group 3). Trabecular fractal dimensions (Dfs) (total, basal, mid-ventricular, and apical) were evaluated on cine images. Total Df was higher in all Fabry groups compared to controls, gradually increasing from controls to Group 3 (1.27±0.02 controls vs. 1.29±0.02 Group 1 vs. 1.30±0.02 Group 2 vs. 1.34±0.02 Group 3; P<0.001). Group 3 showed significantly higher values of all Dfs compared to the other Groups. Both basal and total Dfs were significantly higher in Group 1 compared with controls (basal: 1.30±0.03 vs. 1.26±0.04, P =0.010; total: 1.29±0.02 vs. 1.27±0.02, P=0.044). Total Df showed significant correlations with: (i) T1 value (r=-0.569; P<0.001); (ii) LV mass (r=0.664, P<0.001); (iii) trabecular mass (r=0.676; P <0.001); (iv) Mainz Severity Score Index (r=0.638; P<0.001).

Conclusion: Fabry cardiomyopathy is characterized by a progressive increase in Df of endocardial trabeculae together with shortening of T1 values. Myocardial trabeculation is increased before the presence of detectable sphingolipid storage, thus representing an early sign of cardiac involvement.
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http://dx.doi.org/10.1093/ehjci/jeaa354DOI Listing
January 2022

Prognostic Value of Nonischemic Ringlike Left Ventricular Scar in Patients With Apparently Idiopathic Nonsustained Ventricular Arrhythmias.

Circulation 2021 04 6;143(14):1359-1373. Epub 2021 Jan 6.

Cardiac Electrophysiology, Cardiovascular Division (D.M., S.A.C., I.L., A.E., J.J.L., S.D., R.D., F.C.G., D.J.C., D.S.F., F.E.M., P.S.), Hospital of the University of Pennsylvania, Philadelphia.

Background: Left ventricular (LV) scar on late gadolinium enhancement (LGE) cardiac magnetic resonance has been correlated with life-threatening arrhythmic events in patients with apparently idiopathic ventricular arrhythmias (VAs). We investigated the prognostic significance of a specific LV-LGE phenotype characterized by a ringlike pattern of fibrosis.

Methods: A total of 686 patients with apparently idiopathic nonsustained VA underwent contrast-enhanced cardiac magnetic resonance. A ringlike pattern of LV scar was defined as LV subepicardial/midmyocardial LGE involving at least 3 contiguous segments in the same short-axis slice. The end point of the study was time to the composite outcome of all-cause death, resuscitated cardiac arrest because of ventricular fibrillation or hemodynamically unstable ventricular tachycardia and appropriate implantable cardioverter defibrillator therapy.

Results: A total of 28 patients (4%) had a ringlike pattern of scar (group A), 78 (11%) had a non-ringlike pattern (group B), and 580 (85%) had normal cardiac magnetic resonance with no LGE (group C). Group A patients were younger compared with groups B and C (median age, 40 vs 52 vs 45 years; <0.01), more frequently men (96% vs 82% vs 55%; <0.01), with a higher prevalence of family history of sudden cardiac death or cardiomyopathy (39% vs 14% vs 6%; <0.01) and more frequent history of unexplained syncope (18% vs 9% vs 3%; <0.01). All patients in group A showed VA with a right bundle-branch block morphology versus 69% in group B and 21% in group C (<0.01). Multifocal VAs were observed in 46% of group A patients compared with 26% of group B and 4% of group C (<0.01). After a median follow-up of 61 months (range, 34-84 months), the composite outcome occurred in 14 patients (50.0%) in group A versus 15 (19.0%) in group B and 2 (0.3%) in group C (<0.01). After multivariable adjustment, the presence of LGE with ringlike pattern remained independently associated with increased risk of the composite end point (hazard ratio, 68.98 [95% CI, 14.67-324.39], <0.01).

Conclusions: In patients with apparently idiopathic nonsustained VA, nonischemic LV scar with a ringlike pattern is associated with malignant arrhythmic events.
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http://dx.doi.org/10.1161/CIRCULATIONAHA.120.047640DOI Listing
April 2021

Interpretation of elevated high-sensitivity cardiac troponin I in elite soccer players previously infected by severe acute respiratory syndrome coronavirus 2.

Int J Cardiol 2021 03 23;326:248-251. Epub 2020 Nov 23.

Cardiovascular and Thoracic Department, IRCCS Ospedale Policlinico San Martino, Genova, Italia - Italian IRCCS Cardiovascular Network; Università di Genova, Dipartimento di Medicina Interna e Specialità Mediche (DIMI), Genova, Italy. Electronic address:

Objectives: To clarify the meaning of elevated cardiac troponin in elite soccer athletes previously infected with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and screened for cardiovascular involvement in the wake of competitive sport resumption.

Methods: We designed a retrospective cohort study with the collaboration of two Italian Serie A teams. Soccer players from both rosters (58 athletes) were systematically analysed. For every SARS-CoV-2 positive athlete, the Italian Soccer Federation protocol requested full blood tests including high-sensitivity cardiac troponin I (hs-cTnI), along with a complete cardiovascular examination. We extended the analysis to SARS-CoV-2 negative athletes.

Results: A total of 13/58 players (22.4%) suffered from SARS-CoV-2infection: all had a negative cardiovascular examination and 2/13 (15%) showed increased hs-cTnI values (120.8 pg/ml and 72,6 pg/ml, respectively; upper reference level 39.2 pg/ml), which did not track with inflammatory biomarkers. Regarding the 45/58 (77.6%) non infected athletes, a slight increase in hs-cTnI was observed in 2 (4.5%) subjects (values: 61 pg/ml and 75 pg/ml respectively). All hs-cTnI positive athletes (4/58, 7%) underwent cardiac magnetic resonance (CMR), that excluded any cardiac injury.

Conclusions: In our retrospective study, SARS-CoV-2 infection in elite soccer athletes was not associated to clinical or biomarkers abnormalities. Increased hs-cTnI was rare and not significantly associated with previous SARS-COV2 infection nor with pathological findings at CMR, albeit elevated hs-cTnI was numerically more prevalent in the infected group.
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http://dx.doi.org/10.1016/j.ijcard.2020.11.039DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7682525PMC
March 2021

[Clinical pathway for cardiomyopathies: a genetic testing strategy proposed by ANMCO in Tuscany].

G Ital Cardiol (Rome) 2020 Dec;21(12):926-934

Dipartimento di Cardiologia, Ospedale Versilia, Lucca.

Hereditary cardiomyopathies, hypertrophic cardiomyopathy, dilated cardiomyopathy, arrhythmogenic cardiomyopathy, restrictive cardiomyopathy and left ventricular noncompaction, are clinically and genetically very heterogeneous diseases, and they represent a frequent cause of cardiac arrest and sudden death. To date, over 100 genes are known to be associated with the onset of cardiomyopathies. Genetic testing is performed by next generation sequencing, a technology that has made it possible to analyze hundreds of genes in many patients simultaneously, shortening costs and execution times. However, with the use of this technology, new problems have arisen regarding the indications for access to the test, the interpretation of the data and the clinical implications of the results.This document aims to represent an operational support tool for hospital cardiologists to make the use of genetic testing more accessible and appropriate for their patients with suspected or ascertained hereditary cardiomyopathy.
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http://dx.doi.org/10.1714/3472.34547DOI Listing
December 2020

Evidence of evolution towards left midventricular obstruction in severe Anderson-Fabry cardiomyopathy.

ESC Heart Fail 2021 02 19;8(1):725-728. Epub 2020 Nov 19.

Department of Cardiovascular and Thoracic Sciences, Fondazione Policlinico Universitario A. Gemelli IRCCS, Catholic University of the Sacred Heart, Rome, Italy.

Aims: In Fabry cardiomyopathy, left ventricular outflow tract obstruction mimicking hypertrophic cardiomyopathy is a very rare finding, with few cases reported and successfully treated with cardiac surgery. In our population of patients with Fabry disease and severe left ventricular hypertrophy (LVH) at the time of diagnosis, we observed an evolution towards a midventricular obstructive phenotype.

Methods And Results: We present a case series of three classically affected Fabry male patients with significant diagnostic delay and severe cardiac involvement (maximal wall thickness >20 mm) at first evaluation. All patients developed midventricular obstructive form over time despite prompt initiation and optimal compliance to enzyme replacement therapy. The extension and distribution of the LVH, involving the papillary muscles, was the main mechanism of obstruction, unlike the asymmetric septal basal hypertrophy and the mitral valve abnormalities commonly seen as substrate of left ventricular outflow tract obstruction in hypertrophic cardiomyopathy.

Conclusions: Fabry cardiomyopathy can evolve over time towards a midventricular obstructive form due to massive LVH in classically affected men with significant diagnostic delay and severe LVH before enzyme replacement therapy initiation. This newly described cardiac phenotype could represent an adverse outcome of the disease.
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http://dx.doi.org/10.1002/ehf2.13101DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7835588PMC
February 2021

Randomized Controlled Trial of Acotec Drug-Eluting Balloon Versus Plain Balloon for Below-the-Knee Angioplasty.

JACC Cardiovasc Interv 2020 10 16;13(19):2277-2286. Epub 2020 Sep 16.

Cardiovascular Department, San Donato Hospital, Arezzo, Italy.

Objectives: The aim of this study was to investigate the efficacy and safety of the Litos drug-coated balloon (DCB) versus plain old balloon angioplasty (POBA) for reduction of late lumen loss (LLL) in patients with critical limb ischemia undergoing below-the-knee (BTK) intervention.

Background: Restenosis after balloon angioplasty of BTK arteries approximates 70%. Previous studies of DCBs in BTK arteries produced conflicting results.

Methods: ACOART-BTK (Evaluation of the Use of ACOTEC Drug-Eluting Balloon Litos® in Below-the-Knee Arteries to Treat Critical Limb Ischemia) is a randomized controlled single-center study. Inclusion criteria were critical limb ischemia (Rutherford class ≥4) and significant stenosis or occlusion >40 mm of at least 1 BTK vessel with distal runoff successfully treated with angioplasty. Six-month angiographic LLL was the primary endpoint. Occlusive restenosis at 6 months and clinically driven target lesion revascularization at 12 months were secondary endpoints.

Results: From January 2016 through January 2019, 105 patients with 129 BTK lesions were enrolled in the study. Mean lesion length was 168 ± 109 mm in the DCB group and 187 ± 113 mm in the POBA group (p = 0.30). Almost 70% of lesions were occluded at baseline in both groups. On 6-month angiography, mean LLL was 0.51 ± 0.60 mm in the DCB group and 1.31 ± 0.72 mm in the POBA group (p < 0.001); rates of occlusive restenosis were 8.6% and 48.4%, respectively (p < 0.001). Twelve-month clinically driven target lesion revascularization occurred in 6 of 62 DCB-treated lesions (10%) versus 27 of 66 POBA-treated lesions (41%) (p < 0.001). Complete healing at 12 months was observed in 42 of 47 DCB-treated limbs (89.4) versus 35 of 47 POBA-treated limbs (74.5%) (p = 0.05); no major amputations occurred.

Conclusions: Litos DCBs strikingly reduced LLL, vessel reocclusion, and clinically driven target lesion revascularization compared with POBA in BTK angioplasty.
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http://dx.doi.org/10.1016/j.jcin.2020.06.045DOI Listing
October 2020

Impact of COVID-19 pandemic on patients with Fabry disease: An Italian experience.

Mol Genet Metab 2020 Sep - Oct;131(1-2):124-125. Epub 2020 Jul 28.

Department of Public Health, Nephrology, University Federico II of Naples, Italy.

We conducted an observational study to assess the impact of COVID-19 emergency on management and outcomes of patients with Fabry disease referring to our Center in Naples, Italy. No patient of the 129 included reported suspected symptoms; 3 isolated themselves in auto-quarantine for flu-like symptoms. All treated patients regularly continued their therapies; 8 missed one infusion: 3 for self-isolation with 2 relatives, and 3 refused to receive nurse at home. All elective procedures were deferred and telemedicine was adopted.
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http://dx.doi.org/10.1016/j.ymgme.2020.07.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7386205PMC
January 2021

Prevalence, causes and predictors of cardiovascular hospitalization in patients with hypertrophic cardiomyopathy.

Int J Cardiol 2020 Nov 29;318:94-100. Epub 2020 Jul 29.

Cardiomyopathy Unit, Cardiothoracic and Vascular Department, Careggi University Hospital, Largo Brambilla 3, 50134, Florence, Italy.

Background: Despite numerous studies assessing the natural history of patients with hypertrophic cardiomyopathy (HCM), there is lack of data regarding the burden of hospitalization. Aim of this study was to describe prevalence, causes and predictors of cardiovascular hospitalization in patients with HCM.

Methods: We retrospectively included 253 patients with HCM undergoing first evaluation at our center. Enrolment criteria included cardiac magnetic resonance imaging (CMRI) at baseline and > 1-year follow-up. All hospital admissions were recorded during follow-up and adjudicated as acute vs elective and cardiovascular (CV) vs non-cardiovascular (non-CV).

Results: During 6.4 ± 4.0 years there were 187 hospitalizations in 92 patients (36%, at a rate of 5.7%/year). Most were CV-related (158/187,84.5%; 4.8%/year) while non-CV admissions were 29/187 (15.5%, 0.88%/year). There was a slight predominance of elective (n = 96, 58%, 2.8%/year) vs acute (n = 62, 41.8%, 2.0%/year) CV hospitalizations. Independent predictors of CV hospitalization were baseline symptoms (NYHA class II vs I: HR 2.06; 95% CI 1.24-3.43, NYHA III-IV vs I: HR 3.05; 95% CI 1.40-6.65, p = .004), indexed left atrial (LA) volume (HR 1.03; 95% CI 1.01-1.04, p < .001), and lower indexed right ventricular end-diastolic volume iRVEDV) at cardiac magnetic resonance (HR 0.99; 95% CI 0.97-0.99, p = .03).

Conclusions: In little over 6 years, CV hospitalization was required in over one-in-three of our HCM patients, often unplanned and due to acute disease-related complications. Symptomatic status, larger LA volume and reduced iRVEDV at baseline were independently associated with CV admissions. Strategies aimed at preventing hospitalizations are an important target to reduce the burden of disease in HCM patients.
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http://dx.doi.org/10.1016/j.ijcard.2020.07.036DOI Listing
November 2020

Electroanatomic mapping-guided endomyocardial biopsy in patients with apparently idiopathic ventricular arrhythmias.

Pacing Clin Electrophysiol 2020 09 13;43(9):1028-1038. Epub 2020 Aug 13.

Cardiovascular Department, San Donato Hospital, Arezzo, Italy.

The management of ventricular arrhythmias (VA) in the presence of an apparently normal heart represents a major clinical challenge and a main field of clinical research. In the past years, new imaging techniques and the spreading of new generation genetic testing have improved our knowledge of the pathogenesis of apparently idiopathic VA. However, in the absence of specific recommendations, the type and the number of noninvasive and invasive studies necessary to rule out a possible underlying cause of VA or sudden cardiac death remain extremely variable. Therefore, in many patients the underlying cardiac disease is not recognized, and a possible specific therapeutic approach cannot be initiated. Endomyocardial biopsy (EMB) can provide a significant contribution to the identification of myocardial disorders causing VA but has never been definitively included in the routine diagnostic work-up of these patients due to the possible sampling error particularly in disorders with a focal or patchy distribution. Three-dimensional electroanatomic mapping (EAM) may guide EMB allowing to draw myocardial samples from abnormal voltage, areas of the ventricular wall, thus reducing sampling error and increasing the sensitivity of EMB. The systematic association of EAM with EMB represents a crucial approach to characterize the pathological substrate of electroanatomic abnormalities and VA and to further clarify the arrhythmogenic mechanisms of acquired and also inherited arrhythmic disorders.
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http://dx.doi.org/10.1111/pace.14014DOI Listing
September 2020

An expert consensus document on the management of cardiovascular manifestations of Fabry disease.

Eur J Heart Fail 2020 07 14;22(7):1076-1096. Epub 2020 Aug 14.

Institute of Cardiovascular Science, University College London and Barts Heart Centre, London, UK.

Fabry disease (FD) is an X-linked lysosomal storage disorder caused by pathogenic variants in the α-galactosidase A (GLA) gene that leads to reduced or undetectable α-galactosidase A enzyme activity and progressive accumulation of globotriaosylceramide and its deacylated form globotriaosylsphingosine in cells throughout the body. FD can be multisystemic with neurological, renal, cutaneous and cardiac involvement or be limited to the heart. Cardiac involvement is characterized by progressive cardiac hypertrophy, fibrosis, arrhythmias, heart failure and sudden cardiac death. The cardiac management of FD requires specific measures including enzyme replacement therapy or small pharmacological chaperones in patients carrying amenable pathogenic GLA gene variants and more general management of cardiac symptoms and complications. In this paper, we summarize current knowledge of FD-related heart disease and expert consensus recommendations for its management.
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http://dx.doi.org/10.1002/ejhf.1960DOI Listing
July 2020
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