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1. ECG/echo indexes in the diagnostic approach to amyloid cardiomyopathy: A head-to-head comparison from the AC-TIVE study

Author

Pagura, L, Porcari, A, Cameli, M, Biagini, E, Canepa, M, Crotti, L, Imazio, M, Forleo, C, Pavasini, R, Limongelli, G, Perlini, S, Metra, M, Boriani, G, Emdin, M, Sinagra, G, Merlo, M, Longo, F, Rossi, M, Varrà, G, Saro, R, Dore, F, Girardi, F, Vergaro, G, Musumeci, B, Autore, C, Cappelli, F, Perfetto, F, Olivotto, I, Favale, S, Carella, M, Guaricci, A, Ciccone, M, Di Bella, G, Tomasoni, D, Rella, V, Branzi, G, Badano, L, Parati, G, Palmiero, G, Caiazza, M, Caponetti, A, Saturi, G, Labate, M, Andreis, A, Paneva, E, De Ferrari, G, Di Ienno, L, De Carli, G, Giacomin, E, Arzilli, C, Pagura L., Porcari A., Cameli M., Biagini E., Canepa M., Crotti L., Imazio M., Forleo C., Pavasini R., Limongelli G., Perlini S., Metra M., Boriani G., Emdin M., Sinagra G., Merlo M., Longo F., Rossi M., Varrà G. G., Saro R., Dore F., Girardi F., Vergaro G., Musumeci B., Autore C., Cappelli F., Perfetto F., Olivotto I., Favale S., Carella M. C., Guaricci A. I., Ciccone M. M., Di Bella G., Tomasoni D., Rella V., Branzi G., Badano L., Parati G., Palmiero G., Caiazza M., Caponetti A. G., Saturi G., Labate M. E., Andreis A., Paneva E., De Ferrari G. M., Di Ienno L., De Carli G., Giacomin E., Arzilli C., Pagura, L, Porcari, A, Cameli, M, Biagini, E, Canepa, M, Crotti, L, Imazio, M, Forleo, C, Pavasini, R, Limongelli, G, Perlini, S, Metra, M, Boriani, G, Emdin, M, Sinagra, G, Merlo, M, Longo, F, Rossi, M, Varrà, G, Saro, R, Dore, F, Girardi, F, Vergaro, G, Musumeci, B, Autore, C, Cappelli, F, Perfetto, F, Olivotto, I, Favale, S, Carella, M, Guaricci, A, Ciccone, M, Di Bella, G, Tomasoni, D, Rella, V, Branzi, G, Badano, L, Parati, G, Palmiero, G, Caiazza, M, Caponetti, A, Saturi, G, Labate, M, Andreis, A, Paneva, E, De Ferrari, G, Di Ienno, L, De Carli, G, Giacomin, E, Arzilli, C, Pagura L., Porcari A., Cameli M., Biagini E., Canepa M., Crotti L., Imazio M., Forleo C., Pavasini R., Limongelli G., Perlini S., Metra M., Boriani G., Emdin M., Sinagra G., Merlo M., Longo F., Rossi M., Varrà G. G., Saro R., Dore F., Girardi F., Vergaro G., Musumeci B., Autore C., Cappelli F., Perfetto F., Olivotto I., Favale S., Carella M. C., Guaricci A. I., Ciccone M. M., Di Bella G., Tomasoni D., Rella V., Branzi G., Badano L., Parati G., Palmiero G., Caiazza M., Caponetti A. G., Saturi G., Labate M. E., Andreis A., Paneva E., De Ferrari G. M., Di Ienno L., De Carli G., Giacomin E., and Arzilli C.

Abstract

Background and aims: The discordance between QRS voltages on electrocardiogram (ECG) and left ventricle (LV) wall thickness (LVWT) on echocardiogram (echo) is a recognized red flag (RF) of amyloid cardiomyopathy (AC) and can be measured by specific indexes. No head-to-head comparison of different ECG/echo indexes among subjects with echocardiographic suspicion of AC has yet been undertaken. The study aimed at evaluating the performance and the incremental diagnostic value of different ECG/echo indexes in this subset of patients. Methods: Electrocardiograms of subjects with LV hypertrophy, preserved ejection fraction and ≥ 1 echocardiographic RF of AC participating in the AC-TIVE study, an Italian prospective multicenter study, were independently analyzed by two cardiologists. Low QRS voltages and 8 different ECG/echo indexes were evaluated. Cohort specific cut-offs were computed. Results: Among 170 patients, 55 (32 %) were diagnosed with AC. Combination of low QRS voltages with interventricular septum ≥ 1,6 cm was the most specific (specificity 100 %, positive predictive value 100 %) ECG/echo index, while the ratio between the sum of all QRS voltages and LVWT <7,8 was the most sensitive and accurate (sensitivity 94 %, negative predictive value 97 %, accuracy 82 %). When the latter index was added to a model using easily-accessible clinical variables, the diagnostic accuracy for AC greatly increased (AUC from 0,84 to 0,95; p = 0,007). Conclusions: Among patients with non-dilated hypertrophic ventricles with normal ejection fraction and echocardiographic RF of AC, easily-measurable ECG/echo indexes, mainly when added to few clinical variables, can help the physician orient second level investigations. External validation of the results is warranted.

Published
2024

2. Clinical course of hypertrophic cardiomyopathy patients implanted with a transvenous or subcutaneous defibrillator

Author

Francia, P, Ziacchi, M, Adduci, C, Ammendola, E, Pieragnoli, P, Filippo, P, Rapacciuolo, A, Rella, V, Migliore, F, Viani, S, Musumeci, M, Biagini, E, Lovecchio, M, Baldini, R, Falasconi, G, Autore, C, Biffi, M, Cecchi, F, Francia P., Ziacchi M., Adduci C., Ammendola E., Pieragnoli P., Filippo P. D., Rapacciuolo A., Rella V., Migliore F., Viani S., Musumeci M. B., Biagini E., Lovecchio M., Baldini R., Falasconi G., Autore C., Biffi M., Cecchi F., Francia, P, Ziacchi, M, Adduci, C, Ammendola, E, Pieragnoli, P, Filippo, P, Rapacciuolo, A, Rella, V, Migliore, F, Viani, S, Musumeci, M, Biagini, E, Lovecchio, M, Baldini, R, Falasconi, G, Autore, C, Biffi, M, Cecchi, F, Francia P., Ziacchi M., Adduci C., Ammendola E., Pieragnoli P., Filippo P. D., Rapacciuolo A., Rella V., Migliore F., Viani S., Musumeci M. B., Biagini E., Lovecchio M., Baldini R., Falasconi G., Autore C., Biffi M., and Cecchi F.

Abstract

Aims The implantable cardioverter-defibrillator (ICD) is a life-saving therapy in patients with hypertrophic cardiomyopathy (HCM) at risk of sudden cardiac death. Implantable cardioverter-defibrillator complications are of concern. The subcutaneous ICD (S-ICD) does not use transvenous leads and is expected to reduce complications. However, it does not provide bradycardia and anti-tachycardia pacing (ATP). The aim of this study was to compare appropriate and inappropriate ICD interventions, complications, disease-related adverse events and mortality between HCM patients implanted with a S- or transvenous (TV)-ICD.Methods and results Consecutive HCM patients implanted with a S- (n = 216) or TV-ICD (n = 211) were enrolled. Propensity-adjusted cumulative Kaplan-Meier curves and multivariate Cox proportional hazard ratios were used to compare 5-year event-free survival and the risk of events. The S-ICD patients had lower 5-year risk of appropriate (HR: 0.32; 95%CI: 0.15-0.65; P = 0.002) and inappropriate (HR: 0.44; 95%CI: 0.20-0.95; P = 0.038) ICD interventions, driven by a high incidence of ATP therapy in the TV-ICD group. The S- and TV-ICD patients experienced similar 5-year rate of device-related complications, albeit the risk of major lead-related complications was lower in S-ICD patients (HR: 0.17; 95%CI: 0.038-0.79; P = 0.023). The TV- and S-ICD patients displayed similar risk of disease-related complications (HR: 0.64; 95%CI: 0.27-1.52; P = 0.309) and mortality (HR: 0.74; 95%CI: 0.29-1.87; P = 0.521).Conclusion Hypertrophic cardiomyopathy patients implanted with a S-ICD had lower 5-year risk of appropriate and inappropriate ICD therapies as well as of major lead-related complications as compared to those implanted with a TV-ICD. Long-term comparative follow-up studies will clarify whether the lower incidence of major lead-related complications will translate into a morbidity or survival benefit.Graphical Abstract

Published
2023

3. Diagnostic pathways to wild-type transthyretin amyloid cardiomyopathy: a multicentre network study

Author

Tini, G, Milani, P, Zampieri, M, Caponetti, A, Fabris, F, Foli, A, Argiro, A, Mazzoni, C, Gagliardi, C, Longhi, S, Saturi, G, Vergaro, G, Aimo, A, Russo, D, Varra, G, Serenelli, M, Fabbri, G, De Michieli, L, Palmiero, G, Ciliberti, G, Carigi, S, Sessarego, E, Mandoli, G, Ricci Lucchi, G, Rella, V, Monti, E, Gardini, E, Bartolotti, M, Crotti, L, Merli, E, Mussinelli, R, Vianello, P, Cameli, M, Marzo, F, Guerra, F, Limongelli, G, Cipriani, A, Perlini, S, Obici, L, Perfetto, F, Autore, C, Porto, I, Rapezzi, C, Sinagra, G, Merlo, M, Musumeci, B, Emdin, M, Biagini, E, Cappelli, F, Palladini, G, Canepa, M, Tini G., Milani P., Zampieri M., Caponetti A. G., Fabris F., Foli A., Argiro A., Mazzoni C., Gagliardi C., Longhi S., Saturi G., Vergaro G., Aimo A., Russo D., Varra G. G., Serenelli M., Fabbri G., De Michieli L., Palmiero G., Ciliberti G., Carigi S., Sessarego E., Mandoli G. E., Ricci Lucchi G., Rella V., Monti E., Gardini E., Bartolotti M., Crotti L., Merli E., Mussinelli R., Vianello P. F., Cameli M., Marzo F., Guerra F., Limongelli G., Cipriani A., Perlini S., Obici L., Perfetto F., Autore C., Porto I., Rapezzi C., Sinagra G., Merlo M., Musumeci B., Emdin M., Biagini E., Cappelli F., Palladini G., Canepa M., Tini, G, Milani, P, Zampieri, M, Caponetti, A, Fabris, F, Foli, A, Argiro, A, Mazzoni, C, Gagliardi, C, Longhi, S, Saturi, G, Vergaro, G, Aimo, A, Russo, D, Varra, G, Serenelli, M, Fabbri, G, De Michieli, L, Palmiero, G, Ciliberti, G, Carigi, S, Sessarego, E, Mandoli, G, Ricci Lucchi, G, Rella, V, Monti, E, Gardini, E, Bartolotti, M, Crotti, L, Merli, E, Mussinelli, R, Vianello, P, Cameli, M, Marzo, F, Guerra, F, Limongelli, G, Cipriani, A, Perlini, S, Obici, L, Perfetto, F, Autore, C, Porto, I, Rapezzi, C, Sinagra, G, Merlo, M, Musumeci, B, Emdin, M, Biagini, E, Cappelli, F, Palladini, G, Canepa, M, Tini G., Milani P., Zampieri M., Caponetti A. G., Fabris F., Foli A., Argiro A., Mazzoni C., Gagliardi C., Longhi S., Saturi G., Vergaro G., Aimo A., Russo D., Varra G. G., Serenelli M., Fabbri G., De Michieli L., Palmiero G., Ciliberti G., Carigi S., Sessarego E., Mandoli G. E., Ricci Lucchi G., Rella V., Monti E., Gardini E., Bartolotti M., Crotti L., Merli E., Mussinelli R., Vianello P. F., Cameli M., Marzo F., Guerra F., Limongelli G., Cipriani A., Perlini S., Obici L., Perfetto F., Autore C., Porto I., Rapezzi C., Sinagra G., Merlo M., Musumeci B., Emdin M., Biagini E., Cappelli F., Palladini G., and Canepa M.

Abstract

Aim: Epidemiology of wild-type transthyretin cardiac amyloidosis (ATTRwt-CA) remains poorly defined. A better characterization of pathways leading to ATTRwt-CA diagnosis is of key importance, and potentially informative of disease course and prognosis. The aim of this study was to describe the characteristics of contemporary pathways leading to ATTRwt-CA diagnosis, and their potential association with survival. Methods and results: This was a retrospective study of patients diagnosed with ATTRwt-CA at 17 Italian referral centres for CA. Patients were categorized into different ‘pathways’ according to the medical reason that triggered the diagnosis of ATTRwt-CA (hypertrophic cardiomyopathy [HCM] pathway, heart failure [HF] pathway, incidental imaging or incidental clinical pathway). Prognosis was investigated with all-cause mortality as endpoint. Overall, 1281 ATTRwt-CA patients were included in the study. The diagnostic pathway leading to ATTRwt-CA diagnosis was HCM in 7% of patients, HF in 51%, incidental imaging in 23%, incidental clinical in 19%. Patients in the HF pathway, as compared to the others, were older and had a greater prevalence of New York Heart Association (NYHA) class III–IV and chronic kidney disease. Survival was significantly worse in the HF versus other pathways, but similar among the three others. In multivariate model, older age at diagnosis, NYHA class III–IV and some comorbidities but not the HF pathway were independently associated with worse survival. Conclusions: Half of contemporary ATTRwt-CA diagnoses occur in a HF setting. These patients had worse clinical profile and outcome than those diagnosed either due to suspected HCM or incidentally, although prognosis remained primarily related to age, NYHA functional class and comorbidities rather than the diagnostic pathway itself.

Published
2023

4. From the phenotype to precision medicine: An update on the cardiomyopathies diagnostic workflow

Author

Autore, C, Bariani, R, Bauce, B, Biagini, E, Canepa, M, Castelletti, S, Crotti, L, Limongelli, G, Merlo, M, Monda, E, Pio Loco Detto Gava, C, Parisi, V, Tini, G, Imazio, M, Autore C., Bariani R., Bauce B., Biagini E., Canepa M., Castelletti S., Crotti L., Limongelli G., Merlo M., Monda E., Pio Loco Detto Gava C., Parisi V., Tini G., Imazio M., Autore, C, Bariani, R, Bauce, B, Biagini, E, Canepa, M, Castelletti, S, Crotti, L, Limongelli, G, Merlo, M, Monda, E, Pio Loco Detto Gava, C, Parisi, V, Tini, G, Imazio, M, Autore C., Bariani R., Bauce B., Biagini E., Canepa M., Castelletti S., Crotti L., Limongelli G., Merlo M., Monda E., Pio Loco Detto Gava C., Parisi V., Tini G., and Imazio M.

Abstract

Cardiomyopathies are disease of the cardiac muscle largely due to genetic alterations of proteins with 'structural' or 'functional' roles within the cardiomyocyte, going from the regulation of contraction-relaxation, metabolic and energetic processes to ionic fluxes. Modifications occurring to these proteins are responsible, in the vast majority of cases, for the phenotypic manifestations of the disease, including hypertrophic, dilated, arrhythmogenic and restrictive cardiomyopathies. Secondary nonhereditary causes to be excluded include infections, toxicity from drugs or alcohol or medications, hormonal imbalance and so on. Obtaining a phenotypic definition and an etiological diagnosis is becoming increasingly relevant and feasible, thanks to the availability of new tailored treatments and the diagnostic advancements made particularly in the field of genetics. This is, for example, the case for transthyretin cardiac amyloidosis, Fabry disease or dilated cardiomyopathies due to laminopathies. For these diseases, specific medications have been developed, and a more tailored arrhythmic risk stratification guides the implantation of a defibrillator. In addition, new medications directly targeting the altered protein responsible for the phenotype are becoming available (including the myosin inhibitors mavacantem and aficamten, monoclonal antibodies against Ras-MAPK, genetic therapies for sarcoglycanopathies), thus making a precision medicine approach less unrealistic even in the field of cardiomyopathies. For these reasons, a contemporary approach to cardiomyopathies must consider diagnostic algorithms founded on the clinical suspicion of the disease and developed towards a more precise phenotypic definition and etiological diagnosis, based on a multidisciplinary methodology putting together specialists from different disciplines, facilities for advanced imaging testing and genetic and anatomopathological competencies.

Published
2023

5. Razionale e valore fondamentale della Rete Italiana integrata dell’Amiloidosi Cardiaca [Rationale and significance of the Italian Network for Cardiac Amyloidosis]

Author

Sinagra, G, Emdin, M, Merlo, M, Vergaro, G, Aimo, A, Biagini, E, Imazio, M, Porcari, A, Limongelli, G, Cipriani, A, Canepa, M, Musumeci, B, Cameli, M, Crotti, L, Di Bella, G, Di Lenarda, A, Cappelli, F, Chimenti, C, Obici, L, Iacoviello, M, Perlini, S, Pieroni, M, Metra, M, Oliva, F, Perrone Filardi, P, Colivicchi, F, Indolfi, C, Sinagra G., Emdin M., Merlo M., Vergaro G., Aimo A., Biagini E., Imazio M., Porcari A., Limongelli G., Cipriani A., Canepa M., Musumeci B., Cameli M., Crotti L., Di Bella G., Di Lenarda A., Cappelli F., Chimenti C., Obici L., Iacoviello M., Perlini S., Pieroni M., Metra M., Oliva F., Perrone Filardi P., Colivicchi F., Indolfi C., Sinagra, G, Emdin, M, Merlo, M, Vergaro, G, Aimo, A, Biagini, E, Imazio, M, Porcari, A, Limongelli, G, Cipriani, A, Canepa, M, Musumeci, B, Cameli, M, Crotti, L, Di Bella, G, Di Lenarda, A, Cappelli, F, Chimenti, C, Obici, L, Iacoviello, M, Perlini, S, Pieroni, M, Metra, M, Oliva, F, Perrone Filardi, P, Colivicchi, F, Indolfi, C, Sinagra G., Emdin M., Merlo M., Vergaro G., Aimo A., Biagini E., Imazio M., Porcari A., Limongelli G., Cipriani A., Canepa M., Musumeci B., Cameli M., Crotti L., Di Bella G., Di Lenarda A., Cappelli F., Chimenti C., Obici L., Iacoviello M., Perlini S., Pieroni M., Metra M., Oliva F., Perrone Filardi P., Colivicchi F., and Indolfi C.

Abstract

The perspective on amyloidosis has changed deeply over the last 10 years following major advances in diagnosis and treatment options, especially in cardiac amyloidosis. This intrinsically heterogeneous disease exposes to the risk of fragmentation of knowledge and requires the interaction among experts of different specialties and subspecialties. Suspicion of disease, timely recognition and confirmation of final diagnosis, prognostic stratification, clinical management and therapeutic strategies represent essential steps to be taken. Missing or delaying the diagnosis may have dramatic impact on patient outcome, as in the case of chemotherapy in unrecognized light-chain amyloidosis. Therefore, there is an urgent need for the foundation of an Italian Amyloidosis Network to deal with the challenges of this condition and orient clinical management at national and local levels. The present consensus document aims to provide the rationale and scopes of the Italian Amyloidosis Network, which has been conceived as an organizational framework for professionals managing patients with amyloidosis.

Published
2023

6. Long-Term Implications of Atrial Fibrillation in Patients With Degenerative Mitral Regurgitation

Author

Suri, R., Clavel, M.A, Maalouf, J., Michelena, H., Nkomo, Vuyisile T., Enriquez-Sarano, M., Tribouilloy, C., Trojette, F., Szymanski, C., Rusinaru, D., Touati, G., Remadi, J.P., Guerra, F., Capucci, A., Grigioni, F., Russo, A., Biagini, E., Pasquale, F., Ferlito, M., Rapezzi, C., Savini, C., Marinelli, G., Pacini, D., Gargiulo, G.D., Di Bartolomeo, R., Boulif, J., de Meester, C., El Khoury, G., Gerber, B., Lazam, S., Pasquet, A., Noirhomme, P., Vancraeynest, D., Vanoverschelde, J-L., Avierinos, J.F., Collard, F., Théron, A., Habib, G., Barbieri, A., Bursi, F., Mantovani, F., Lugli, R., Modena, M.G., Boriani, G., Bacchi-Reggiani, L., Grigioni, Francesco, Benfari, Giovanni, Vanoverschelde, Jean-Louis, Tribouilloy, Christophe, Avierinos, Jean-Francois, Bursi, Francesca, Suri, Rakesh M., Guerra, Federico, Pasquet, Agnés, Rusinaru, Dan, Marcelli, Emanuela, Théron, Alexis, Barbieri, Andrea, Michelena, Hector, Lazam, Siham, Szymanski, Catherine, Capucci, Alessandro, Thapa, Prabin, and Enriquez-Sarano, Maurice

Published
2019
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7. X-linked Emery-Dreifuss muscular dystrophy is associated with a high risk of malignant ventricular arrhythmia

Author

Cannie, D, primary, Syrris, P, additional, Rodriguez-Palomares, J F, additional, Marini-Bettolo, C, additional, Mestroni, L, additional, Parikh, V N, additional, Barriales-Villa, R, additional, Jiminez-Jaimez, J, additional, Garcia-Pavia, P, additional, Charron, P, additional, Biagini, E, additional, Garcia-Pinilla, J M, additional, Savvatis, K, additional, Wahbi, K, additional, and Elliott, P M, additional

Published
2023
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8. Electrocardiographic evolution in Anderson-Fabry disease: a valuable tool to detect progressive cardiac involvement

Author

Baldassarre, R, primary, Parisi, V, additional, Di Taranto, R, additional, Barlocco, F, additional, Lillo, R, additional, Re, F, additional, Marchi, G, additional, Di Nicola, F, additional, Barile, L, additional, Schiavo, M A, additional, Gimeno Blanes, J R, additional, Graziani, F, additional, Olivotto, I, additional, Galie', N, additional, and Biagini, E, additional

Published
2023
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9. The potential role of the aortic valve calcium score by computed tomography scan in the diagnosis of concomitant cardiac amyloidosis in patients with severe aortic stenosis

Author

Ponziani, A, primary, Saturi, G, additional, Caponetti, A G, additional, Accietto, A, additional, Giovannetti, A, additional, Longhi, S, additional, Gagliardi, C, additional, Laurenzano, F, additional, Cecchieri, F, additional, Ini, E, additional, Parisi, V, additional, Saia, F, additional, Attina, D, additional, Galie, N, additional, and Biagini, E, additional

Published
2023
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11. Characterization and natural history of phenotypes in hereditary transthyretin amyloidosis

Author

Saturi, G, primary, Sguazzotti, M, additional, Caponetti, A G, additional, Ponziani, A, additional, Accietto, A, additional, Giovannetti, A, additional, Ruotolo, I, additional, Massa, P, additional, Laurenzano, F, additional, Cecchieri, F, additional, Gagliardi, C, additional, Biagini, E, additional, Guaraldi, P, additional, Galie, N, additional, and Longhi, S, additional

Published
2023
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12. Electrocardiogram evolution in Anderson-Fabry disease patients during follow-up

Author

Parisi, V, primary, Di Nicola, F, additional, Lillo, R, additional, Marchi, G, additional, Gimeno Blanes, J R, additional, Re, F, additional, Chiti, C, additional, Ditaranto, R, additional, Baldassarre, R, additional, Schiavo, M A, additional, Taglieri, N, additional, Galie', N, additional, Graziani, F, additional, Olivotto, I, additional, and Biagini, E, additional

Published
2023
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13. Acute changes of right ventricular longitudinal strain after transcatheter edge-to-edge repair in patients with functional mitral regurgitation

Author

Ruotolo, I, primary, Marcelli, C, additional, Barile, L, additional, Catalano, C, additional, Saturi, G, additional, Ditaranto, R, additional, Parisi, V, additional, Baldassarre, R, additional, Di Nicola, F, additional, Nardi, E, additional, Palmerini, T, additional, Saia, F, additional, Galie', N, additional, Berardini, A, additional, and Biagini, E, additional

Published
2023
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14. Arrhythmic risk stratification in patients with left ventricular ring-like scar

Author

Parisi, V, primary, Graziosi, M, additional, Lopes, R L, additional, Pasquale, F, additional, De Luca, A, additional, Targetti, M, additional, Tini, G, additional, Torlasco, C, additional, Ditaranto, R, additional, Chiti, C, additional, Crotti, L, additional, Olivotto, I, additional, Merlo, M, additional, Elliott, P, additional, and Biagini, E, additional

Published
2023
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15. Myocardial inflammation in Fabry disease: correlations between myocardial histology, T2 mapping, and troponin

Author

Ditaranto, R, primary, Leone, O, additional, Lovato, L, additional, Baldovini, C, additional, Niro, F, additional, Kurdi, H, additional, Parisi, V, additional, Schiavo, M A, additional, Di Nicola, F, additional, Baldassarre, R, additional, Potena, L, additional, Martin Suarez, S, additional, Galie', N, additional, Moon, J A M E S, additional, and Biagini, E L E N A, additional

Published
2023
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16. Razionale e valore fondamentale della Rete Italiana integrata dell’Amiloidosi Cardiaca [Rationale and significance of the Italian Network for Cardiac Amyloidosis]

Author

Sinagra G., Emdin M., Merlo M., Vergaro G., Aimo A., Biagini E., Imazio M., Porcari A., Limongelli G., Cipriani A., Canepa M., Musumeci B., Cameli M., Crotti L., Di Bella G., Di Lenarda A., Cappelli F., Chimenti C., Obici L., Iacoviello M., Perlini S., Pieroni M., Metra M., Oliva F., Perrone Filardi P., Colivicchi F., Indolfi C., Sinagra, G, Emdin, M, Merlo, M, Vergaro, G, Aimo, A, Biagini, E, Imazio, M, Porcari, A, Limongelli, G, Cipriani, A, Canepa, M, Musumeci, B, Cameli, M, Crotti, L, Di Bella, G, Di Lenarda, A, Cappelli, F, Chimenti, C, Obici, L, Iacoviello, M, Perlini, S, Pieroni, M, Metra, M, Oliva, F, Perrone Filardi, P, Colivicchi, F, and Indolfi, C

Subjects
Treatment, Clinical management, Cardiac amyloidosi, Differential diagnosi, Perspective
Abstract

The perspective on amyloidosis has changed deeply over the last 10 years following major advances in diagnosis and treatment options, especially in cardiac amyloidosis. This intrinsically heterogeneous disease exposes to the risk of fragmentation of knowledge and requires the interaction among experts of different specialties and subspecialties. Suspicion of disease, timely recognition and confirmation of final diagnosis, prognostic stratification, clinical management and therapeutic strategies represent essential steps to be taken. Missing or delaying the diagnosis may have dramatic impact on patient outcome, as in the case of chemotherapy in unrecognized light-chain amyloidosis. Therefore, there is an urgent need for the foundation of an Italian Amyloidosis Network to deal with the challenges of this condition and orient clinical management at national and local levels. The present consensus document aims to provide the rationale and scopes of the Italian Amyloidosis Network, which has been conceived as an organizational framework for professionals managing patients with amyloidosis.

Published
2023

17. Unmasking the prevalence of amyloid cardiomyopathy in the real world: results from Phase 2 of the AC-TIVE study, an Italian nationwide survey

Author

Merlo, M, Pagura, L, Porcari, A, Cameli, M, Vergaro, G, Musumeci, B, Biagini, E, Canepa, M, Crotti, L, Imazio, M, Forleo, C, Cappelli, F, Perfetto, F, Favale, S, Di Bella, G, Dore, F, Girardi, F, Tomasoni, D, Pavasini, R, Rella, V, Palmiero, G, Caiazza, M, Carella, M, Igoren Guaricci, A, Branzi, G, Caponetti, A, Saturi, G, La Malfa, G, Merlo, A, Andreis, A, Bruno, F, Longo, F, Rossi, M, Varra, G, Saro, R, Di Ienno, L, De Carli, G, Giacomin, E, Arzilli, C, Limongelli, G, Autore, C, Olivotto, I, Badano, L, Parati, G, Perlini, S, Metra, M, Emdin, M, Rapezzi, C, Sinagra, G, Merlo M., Pagura L., Porcari A., Cameli M., Vergaro G., Musumeci B., Biagini E., Canepa M., Crotti L., Imazio M., Forleo C., Cappelli F., Perfetto F., Favale S., Di Bella G., Dore F., Girardi F., Tomasoni D., Pavasini R., Rella V., Palmiero G., Caiazza M., Carella M. C., Igoren Guaricci A., Branzi G., Caponetti A. G., Saturi G., La Malfa G., Merlo A. C., Andreis A., Bruno F., Longo F., Rossi M., Varra G. G., Saro R., Di Ienno L., De Carli G., Giacomin E., Arzilli C., Limongelli G., Autore C., Olivotto I., Badano L., Parati G., Perlini S., Metra M., Emdin M., Rapezzi C., Sinagra G., Merlo, M, Pagura, L, Porcari, A, Cameli, M, Vergaro, G, Musumeci, B, Biagini, E, Canepa, M, Crotti, L, Imazio, M, Forleo, C, Cappelli, F, Perfetto, F, Favale, S, Di Bella, G, Dore, F, Girardi, F, Tomasoni, D, Pavasini, R, Rella, V, Palmiero, G, Caiazza, M, Carella, M, Igoren Guaricci, A, Branzi, G, Caponetti, A, Saturi, G, La Malfa, G, Merlo, A, Andreis, A, Bruno, F, Longo, F, Rossi, M, Varra, G, Saro, R, Di Ienno, L, De Carli, G, Giacomin, E, Arzilli, C, Limongelli, G, Autore, C, Olivotto, I, Badano, L, Parati, G, Perlini, S, Metra, M, Emdin, M, Rapezzi, C, Sinagra, G, Merlo M., Pagura L., Porcari A., Cameli M., Vergaro G., Musumeci B., Biagini E., Canepa M., Crotti L., Imazio M., Forleo C., Cappelli F., Perfetto F., Favale S., Di Bella G., Dore F., Girardi F., Tomasoni D., Pavasini R., Rella V., Palmiero G., Caiazza M., Carella M. C., Igoren Guaricci A., Branzi G., Caponetti A. G., Saturi G., La Malfa G., Merlo A. C., Andreis A., Bruno F., Longo F., Rossi M., Varra G. G., Saro R., Di Ienno L., De Carli G., Giacomin E., Arzilli C., Limongelli G., Autore C., Olivotto I., Badano L., Parati G., Perlini S., Metra M., Emdin M., Rapezzi C., and Sinagra G.

Abstract

Aim: To investigate the prevalence of amyloid cardiomyopathy (AC) and the diagnostic accuracy of echocardiographic red flags of AC among consecutive adult patients undergoing transthoracic echocardiogram for reason other than AC in 13 Italian institutions. Methods and results: This is an Italian prospective multicentre study, involving a clinical and instrumental work-up to assess AC prevalence among patients ≥55 years old with an echocardiogram suggestive of AC (i.e. at least one echocardiographic red flag of AC in hypertrophic, non-dilated left ventricles with preserved ejection fraction). The study was registered at ClinicalTrials.gov (NCT04738266). Overall, 381 patients with an echocardiogram suggestive of AC were identified among a cohort of 5315 screened subjects, and 217 patients completed the investigations. A final diagnosis of AC was made in 62 patients with an estimated prevalence of 29% (95% confidence interval 23%–35%). Transthyretin-related AC (ATTR-AC) was diagnosed in 51 and light chain-related AC (AL-AC) in 11 patients. Either apical sparing or a combination of ≥2 other echocardiographic red flags, excluding interatrial septum thickness, provided a diagnostic accuracy >70%. Conclusion: In a cohort of consecutive adults with echocardiographic findings suggestive of AC and preserved left ventricular ejection fraction, the prevalence of AC (either ATTR or AL) was 29%. Easily available echocardiographic red flags, when combined together, demonstrated good diagnostic accuracy.

Published
2022

18. Electrocardiogram analysis in Anderson-Fabry disease: a valuable tool for progressive phenotypic expression tracking

Author

Parisi, V., primary, Baldassarre, R., additional, Ferrara, V., additional, Ditaranto, R., additional, Barlocco, F., additional, Lillo, R., additional, Re, F., additional, Marchi, G., additional, Chiti, C., additional, Di Nicola, F., additional, Catalano, C., additional, Barile, L., additional, Schiavo, M. A., additional, Ponziani, A., additional, Saturi, G., additional, Caponetti, A. G., additional, Berardini, A., additional, Graziosi, M., additional, Pasquale, F., additional, Salamon, I., additional, Ferracin, M., additional, Nardi, E., additional, Capelli, I., additional, Girelli, D., additional, Gimeno Blanes, J. R., additional, Biffi, M., additional, Galiè, N., additional, Olivotto, I., additional, Graziani, F., additional, and Biagini, E., additional

Published
2023
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19. Scar architecture determinants of ventricular arrhythmias in patients with hypertrophic cardiomyopathy: a cardiac magnetic resonance study

Author

Francia, P, primary, Sclafani, M, additional, Franco, P, additional, Falasconi, G, additional, Soto-Iglesias, D, additional, Cigliese, B, additional, Schiavo, M A, additional, Parisi, V, additional, Biagini, E, additional, Musumeci, M B, additional, Autore, C, additional, Alderete, J, additional, Marti-Almor, J, additional, Penela, D, additional, and Berruezo, A, additional

Published
2023
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21. Differences between familial and sporadic dilated cardiomyopathy: ESC EORP Cardiomyopathy & Myocarditis registry

Author

Asselbergs F. W., Sammani A., Elliott P., Gimeno J. R., Tavazzi L., Tendera M., Kaski J. P., Maggioni A. P., Rubis P. P., Jurcut R., Helio T., Calo L., Sinagra G., Zdravkovic M., Olivotto I., Kavoliuniene A., Laroche C., Caforio A. L. P., Charron P., Komissarova S., Chakova N., Niyazova S., Linhart A., Kuchynka P., Palecek T., Podzimkova J., Fikrle M., Nemecek E., Bundgaard H., Tfelt-Hansen J., Theilade J., Thune J. J., Axelsson A., Mogensen J., Henriksen F., Hey T., Nielsen S. K., Videbaek L., Andreasen S., Arnsted H., Saad A., Ali M., Lommi J., Nieminennew M. S., Dubourg O., Mansencal N., Arslan M., Siam Tsieu V., Damy T., Guellich A., Guendouz S., Tissot C. M., Lamine A., Rappeneau S., Hagege A., Desnos M., Bachet A., Hamzaoui M., Isnard R., Legrand L., Maupain C., Gandjbakhch E., Kerneis M., Pruny J. -F., Bauer A., Pfeiffer B., Felix S. B., Dorr M., Kaczmarek S., Lehnert K., Pedersen A. -L., Beug D., Bruder M., Bohm M., Kindermann I., Linicus Y., Werner C., Neurath B., Schild-Ungerbuehler M., Seggewiss H., Neugebauer A., McKeown P., Muir A., McOsker J., Jardine T., Divine G., Lorenzini M., Watkinson O., Wicks E., Iqbal H., Mohiddin S., O'Mahony C., Sekri N., Carr-White G., Bueser T., Rajani R., Clack L., Damm J., Jones S., Sanchez-Vidal R., Smith M., Walters T., Wilson K., Rosmini S., Anastasakis A., Ritsatos K., Vlagkouli V., Forster T., Sepp R., Borbas J., Nagy V., Tringer A., Kakonyi K., Szabo L. A., Maleki M., Noohi Bezanjani F., Amin A., Naderi N., Parsaee M., Taghavi S., Ghadrdoost B., Jafari S., Khoshavi M., Rapezzi C., Biagini E., Corsini A., Gagliardi C., Graziosi M., Longhi S., Milandri A., Ragni L., Palmieri S., Arretini A., Castelli G., Cecchi F., Fornaro A., Tomberli B., Spirito P., Devoto E., Della Bella P., Maccabelli G., Sala S., Guarracini F., Peretto G., Russo M. G., Calabro R., Pacileo G., Limongelli G., Masarone D., Pazzanese V., Rea A., Rubino M., Tramonte S., Valente F., Caiazza M., Cirillo A., Del Giorno G., Esposito A., Gravino R., Marrazzo T., Trimarco B., Losi M. -A., Di Nardo C., Giamundo A., Musella F., Pacelli F., Scatteia A., Canciello G., Caforio A., Iliceto S., Calore C., Leoni L., Perazzolo Marra M., Rigato I., Tarantini G., Schiavo A., Testolina M., Arbustini E., Di Toro A., Giuliani L. P., Serio A., Fedele F., Frustaci A., Alfarano M., Chimenti C., Drago F., Baban A., Lanzillo C., Martino A., Uguccioni M., Zachara E., Halasz G., Re F., Carriere C., Merlo M., Ramani F., Krivickiene A., Tamuleviciute-Prasciene E., Viezelis M., Celutkiene J., Balkeviciene L., Laukyte M., Paleviciute E., Pinto Y., Wilde A., Van Der Heijden J., Van Laake L., De Jonge N., Hassink R., Kirkels J. H., Ajuluchukwu J., Olusegun-Joseph A., Ekure E., Mizia-Stec K., Czekaj A., Sikora-Puz A., Skoczynska A., Wybraniec M., Rubis P., Dziewiecka E., Wisniowska-Smialek S., Bilinska Z., Chmielewski P., Foss-Nieradko B., Michalak E., Stepien-Wojno M., Mazek B., Rocha Lopes L., Almeida A. R., Cruz I., Gomes A. C., Pereira A. R., Brito D., Madeira H., Francisco A. R., Menezes M., Moldovan O., Oliveira Guimaraes T., Silva D., Ginghina C., Mursa A., Popescu B. A., Apetrei E., Militaru S., Mircea Coman I., Frigy A., Fogarasi Z., Kocsis I., Szabo I. A., Fehervari L., Nikitin I., Resnik E., Komissarova M., Lazarev V., Shebzukhova M., Ustyuzhanin D., Blagova O., Alieva I., Kulikova V., Lutokhina Y., Pavlenko E., Varionchik N., Ristic A. D., Seferovic P. M., Veljic I., Zivkovic I., Milinkovic I., Pavlovic A., Radovanovic G., Simeunovic D., Aleksic M., Djokic J., Hinic S., Klasnja S., Mircetic K., Monserrat L., Fernandez X., Garcia-Giustiniani D., Larranaga J. M., Ortiz-Genga M., Barriales-Villa R., Martinez-Veira C., Veira E., Cequier A., Salazar-Mendiguchia J., Manito N., Gonzalez J., Fernandez-Aviles F., Medrano C., Yotti R., Cuenca S., Espinosa M. A., Mendez I., Zatarain E., Alvarez R., Garcia-Pavia P., Briceno A., Cobo-Marcos M., Dominguez F., De Teresa Galvan E., Garcia Pinilla J. M., Abdeselam-Mohamed N., Lopez-Garrido M. A., Morcillo Hidalgo L., Ortega-Jimenez M. V., Robles Mezcua A., Guijarro-Contreras A., Gomez-Garcia D., Robles-Mezcua M., Gimeno Blanes J. R., Castro F. J., Munoz Esparza C., Sabater Molina M., Sorli Garcia M., Lopez Cuenca D., Ripoll-Vera T., Alvarez J., Nunez J., Gomez Y., Sanchez Fernandez P. L., Villacorta E., Avila C., Bravo L., Diaz-Pelaez E., Gallego-Delgado M., Garcia-Cuenllas L., Plata B., Lopez-Haldon J. E., Pena Pena M. L., Cantero Perez E. M., Zorio E., Arnau M. A., Sanz J., Marques-Sulex E., University Medical Center [Utrecht], University College of London [London] (UCL), Hospital Univeristario Virgen de la Arrixaca, University Hospital of Ferrara and Maria Cecilia Hospital, Medical University of Silesia, Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA), Chair of Medical Biochemistry, Jagiellonian University - Medical College, Chair of Medical Biochemistry, Emergency Hospital Floreasca Bucharest, Emergency Hospital Floreasca Bucharest, 8 Calea Floresca, Sector 1, 014461 Bucharest, Romania, University of Helsinki, Policlinico Casilino (Ospedale Policlinico Casilino), University of Trieste, University of Belgrade [Belgrade], Careggi University Hospital, Lithuanian University of health Sciences [Kaunas], Universita degli Studi di Padova, Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Institute of cardiometabolism and nutrition (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hospital Clínico Universitario Virgen de la Arrixaca = University Hospital Virgen de la Arrixaca [Murcia], Medical University of Silesia (SUM), Université Nice Sophia Antipolis (1965 - 2019) (UNS), Helsingin yliopisto = Helsingfors universitet = University of Helsinki, Università degli studi di Trieste = University of Trieste, Università degli Studi di Padova = University of Padua (Unipd), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Institut de Cardiométabolisme et Nutrition = Institute of Cardiometabolism and Nutrition [CHU Pitié Salpêtrière] (IHU ICAN), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), HAL-SU, Gestionnaire, Asselbergs, F. W., Sammani, A., Elliott, P., Gimeno, J. R., Tavazzi, L., Tendera, M., Kaski, J. P., Maggioni, A. P., Rubis, P. P., Jurcut, R., Helio, T., Calo, L., Sinagra, G., Zdravkovic, M., Olivotto, I., Kavoliuniene, A., Laroche, C., Caforio, A. L. P., Charron, P., Komissarova, S., Chakova, N., Niyazova, S., Linhart, A., Kuchynka, P., Palecek, T., Podzimkova, J., Fikrle, M., Nemecek, E., Bundgaard, H., Tfelt-Hansen, J., Theilade, J., Thune, J. J., Axelsson, A., Mogensen, J., Henriksen, F., Hey, T., Nielsen, S. K., Videbaek, L., Andreasen, S., Arnsted, H., Saad, A., Ali, M., Lommi, J., Nieminennew, M. S., Dubourg, O., Mansencal, N., Arslan, M., Siam Tsieu, V., Damy, T., Guellich, A., Guendouz, S., Tissot, C. M., Lamine, A., Rappeneau, S., Hagege, A., Desnos, M., Bachet, A., Hamzaoui, M., Isnard, R., Legrand, L., Maupain, C., Gandjbakhch, E., Kerneis, M., Pruny, J. -F., Bauer, A., Pfeiffer, B., Felix, S. B., Dorr, M., Kaczmarek, S., Lehnert, K., Pedersen, A. -L., Beug, D., Bruder, M., Bohm, M., Kindermann, I., Linicus, Y., Werner, C., Neurath, B., Schild-Ungerbuehler, M., Seggewiss, H., Neugebauer, A., Mckeown, P., Muir, A., Mcosker, J., Jardine, T., Divine, G., Lorenzini, M., Watkinson, O., Wicks, E., Iqbal, H., Mohiddin, S., O'Mahony, C., Sekri, N., Carr-White, G., Bueser, T., Rajani, R., Clack, L., Damm, J., Jones, S., Sanchez-Vidal, R., Smith, M., Walters, T., Wilson, K., Rosmini, S., Anastasakis, A., Ritsatos, K., Vlagkouli, V., Forster, T., Sepp, R., Borbas, J., Nagy, V., Tringer, A., Kakonyi, K., Szabo, L. A., Maleki, M., Noohi Bezanjani, F., Amin, A., Naderi, N., Parsaee, M., Taghavi, S., Ghadrdoost, B., Jafari, S., Khoshavi, M., Rapezzi, C., Biagini, E., Corsini, A., Gagliardi, C., Graziosi, M., Longhi, S., Milandri, A., Ragni, L., Palmieri, S., Arretini, A., Castelli, G., Cecchi, F., Fornaro, A., Tomberli, B., Spirito, P., Devoto, E., Della Bella, P., Maccabelli, G., Sala, S., Guarracini, F., Peretto, G., Russo, M. G., Calabro, R., Pacileo, G., Limongelli, G., Masarone, D., Pazzanese, V., Rea, A., Rubino, M., Tramonte, S., Valente, F., Caiazza, M., Cirillo, A., Del Giorno, G., Esposito, A., Gravino, R., Marrazzo, T., Trimarco, B., Losi, M. -A., Di Nardo, C., Giamundo, A., Musella, F., Pacelli, F., Scatteia, A., Canciello, G., Caforio, A., Iliceto, S., Calore, C., Leoni, L., Perazzolo Marra, M., Rigato, I., Tarantini, G., Schiavo, A., Testolina, M., Arbustini, E., Di Toro, A., Giuliani, L. P., Serio, A., Fedele, F., Frustaci, A., Alfarano, M., Chimenti, C., Drago, F., Baban, A., Lanzillo, C., Martino, A., Uguccioni, M., Zachara, E., Halasz, G., Re, F., Carriere, C., Merlo, M., Ramani, F., Krivickiene, A., Tamuleviciute-Prasciene, E., Viezelis, M., Celutkiene, J., Balkeviciene, L., Laukyte, M., Paleviciute, E., Pinto, Y., Wilde, A., Van Der Heijden, J., Van Laake, L., De Jonge, N., Hassink, R., Kirkels, J. H., Ajuluchukwu, J., Olusegun-Joseph, A., Ekure, E., Mizia-Stec, K., Czekaj, A., Sikora-Puz, A., Skoczynska, A., Wybraniec, M., Rubis, P., Dziewiecka, E., Wisniowska-Smialek, S., Bilinska, Z., Chmielewski, P., Foss-Nieradko, B., Michalak, E., Stepien-Wojno, M., Mazek, B., Rocha Lopes, L., Almeida, A. R., Cruz, I., Gomes, A. C., Pereira, A. R., Brito, D., Madeira, H., Francisco, A. R., Menezes, M., Moldovan, O., Oliveira Guimaraes, T., Silva, D., Ginghina, C., Mursa, A., Popescu, B. A., Apetrei, E., Militaru, S., Mircea Coman, I., Frigy, A., Fogarasi, Z., Kocsis, I., Szabo, I. A., Fehervari, L., Nikitin, I., Resnik, E., Komissarova, M., Lazarev, V., Shebzukhova, M., Ustyuzhanin, D., Blagova, O., Alieva, I., Kulikova, V., Lutokhina, Y., Pavlenko, E., Varionchik, N., Ristic, A. D., Seferovic, P. M., Veljic, I., Zivkovic, I., Milinkovic, I., Pavlovic, A., Radovanovic, G., Simeunovic, D., Aleksic, M., Djokic, J., Hinic, S., Klasnja, S., Mircetic, K., Monserrat, L., Fernandez, X., Garcia-Giustiniani, D., Larranaga, J. M., Ortiz-Genga, M., Barriales-Villa, R., Martinez-Veira, C., Veira, E., Cequier, A., Salazar-Mendiguchia, J., Manito, N., Gonzalez, J., Fernandez-Aviles, F., Medrano, C., Yotti, R., Cuenca, S., Espinosa, M. A., Mendez, I., Zatarain, E., Alvarez, R., Garcia-Pavia, P., Briceno, A., Cobo-Marcos, M., Dominguez, F., De Teresa Galvan, E., Garcia Pinilla, J. M., Abdeselam-Mohamed, N., Lopez-Garrido, M. A., Morcillo Hidalgo, L., Ortega-Jimenez, M. V., Robles Mezcua, A., Guijarro-Contreras, A., Gomez-Garcia, D., Robles-Mezcua, M., Gimeno Blanes, J. R., Castro, F. J., Munoz Esparza, C., Sabater Molina, M., Sorli Garcia, M., Lopez Cuenca, D., Ripoll-Vera, T., Alvarez, J., Nunez, J., Gomez, Y., Sanchez Fernandez, P. L., Villacorta, E., Avila, C., Bravo, L., Diaz-Pelaez, E., Gallego-Delgado, M., Garcia-Cuenllas, L., Plata, B., Lopez-Haldon, J. E., Pena Pena, M. L., Cantero Perez, E. M., Zorio, E., Arnau, M. A., Sanz, J., Marques-Sulex, E., Cardiology, ACS - Heart failure & arrhythmias, HUS Heart and Lung Center, Clinicum, Department of Medicine, Kardiologian yksikkö, Helsinki University Hospital Area, and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)

Subjects
Registrie, lcsh:Diseases of the circulatory (Cardiovascular) system, EUROBSERVATIONAL RESEARCH-PROGRAM, Dilated cardiomyopathy, Europe, Familial, Genetic, Prognosis, Sporadic, Adult, Humans, Prospective Studies, Registries, Cardiomyopathies, Cardiomyopathy, Dilated, Myocarditis, Cardiomyopathy, 030204 cardiovascular system & hematology, 0302 clinical medicine, Original Research Articles, Dilated, PILOT, Original Research Article, 030212 general & internal medicine, Prospective cohort study, Ejection fraction, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, medicine.diagnostic_test, Guideline adherence, 3. Good health, Cardiology and Cardiovascular Medicine, Human, medicine.medical_specialty, Prognosi, FREQUENCY, 03 medical and health sciences, Internal medicine, medicine, Cardiomyopathie, Genetic testing, business.industry, medicine.disease, Prospective Studie, lcsh:RC666-701, 3121 General medicine, internal medicine and other clinical medicine, Heart failure, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract

International audience; AimsDilated cardiomyopathy (DCM) is a complex disease where genetics interplay with extrinsic factors. This study aims to compare the phenotype, management, and outcome of familial DCM (FDCM) and non‐familial (sporadic) DCM (SDCM) across Europe.Methods and resultsPatients with DCM that were enrolled in the prospective ESC EORP Cardiomyopathy & Myocarditis Registry were included. Baseline characteristics, genetic testing, genetic yield, and outcome were analysed comparing FDCM and SDCM; 1260 adult patients were studied (238 FDCM, 707 SDCM, and 315 not disclosed). Patients with FDCM were younger (P < 0.01), had less severe disease phenotype at presentation (P < 0.02), more favourable baseline cardiovascular risk profiles (P ≤ 0.007), and less medication use (P ≤ 0.042). Outcome at 1 year was similar and predicted by NYHA class (HR 0.45; 95% CI [0.25–0.81]) and LVEF per % decrease (HR 1.05; 95% CI [1.02–1.08]. Throughout Europe, patients with FDCM received more genetic testing (47% vs. 8%, P < 0.01) and had higher genetic yield (55% vs. 22%, P < 0.01).ConclusionsWe observed that FDCM and SDCM have significant differences at baseline but similar short‐term prognosis. Whether modification of associated cardiovascular risk factors provide opportunities for treatment remains to be investigated. Our results also show a prevalent role of genetics in FDCM and a non‐marginal yield in SDCM although genetic testing is largely neglected in SDCM. Limited genetic testing and heterogeneity in panels provides a scaffold for improvement of guideline adherence.

Published
2021
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22. Risk stratification in Arrhythmogenic Right Ventricular Cardiomyopathy: the impact of genotype on the 2019 ARVC risk calculator

Author

Protonotarios, A, primary, Barriales-Villa, R, additional, Antoniades, L, additional, Mogensen, J, additional, Garcia-Pavia, P, additional, Wahbi, K, additional, Biagini, E, additional, Anastasakis, A, additional, Tsatsopoulou, A, additional, Zorio, E, additional, Gimeno, J R, additional, Garcia-Pinilla, J M, additional, Sinagra, G, additional, Bauce, B, additional, and Elliott, P M, additional

Published
2022
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23. ECG as a storytelling of cardiac involvement evolution in Anderson Fabry disease

Author

Chiti, C, primary, Ditaranto, R, additional, Barlocco, F, additional, Lillo, R, additional, Re, F, additional, Marchi, G, additional, Parisi, V, additional, Ferrara, V, additional, Baldassarre, R, additional, Di Nicola, F, additional, Gimeno Blanes, J R, additional, Graziani, F, additional, Galie', N, additional, Olivotto, I, additional, and Biagini, E, additional

Published
2022
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24. Prognostic implications of biventricular uptake of bone tracers at planar scintigraphy in transthyretin cardiac amyloidosis

Author

Porcari, A, primary, Pagura, L, additional, Canepa, M, additional, Biagini, E, additional, Cappelli, F, additional, Tini, G, additional, Dore, F, additional, Longhi, S, additional, Sciagra', R, additional, Fontana, M, additional, Gillmore, J, additional, Rapezzi, C, additional, Merlo, M, additional, and Sinagra, G, additional

Published
2022
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25. Electrocardiographic evolution in Anderson-Fabry disease patients on and off specific therapy: a potential marker to study the therapeutic cardiac goal

Author

Baldassarre, R, primary, Ditaranto, R, additional, Barlocco, F, additional, Lillo, R, additional, Re, F, additional, Marchi, G, additional, Parisi, V, additional, Ferrrara, V, additional, Di Nicola, F, additional, Chiti, C, additional, Gimeno Blanes, J R, additional, Graziani, F, additional, Galie', N, additional, Zancarano, A, additional, and Biagini, E, additional

Published
2022
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26. Diagnostic pathways leading to arrhythmogenic left ventricular cardiomyopathy in a single center cohort

Author

Parisi, V, primary, Graziosi, M, additional, Ditaranto, R, additional, Chiti, C, additional, Caponetti, A G, additional, Minnucci, M, additional, Baldassarre, R, additional, Di Nicola, F, additional, Catalano, C, additional, Saturi, G, additional, Berardini, A, additional, Pasquale, F, additional, Leone, O, additional, Galie', N, additional, and Biagini, E, additional

Published
2022
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27. Electrocardiographic findings in Anderson-Fabry patients on disease specific therapy: can treatment prevent ECG changes?

Author

Di Nicola, F, primary, Ditaranto, R, additional, Barlocco, F, additional, Lillo, R, additional, Re, F, additional, Marchi, G, additional, Baldassarre, R, additional, Parisi, V, additional, Ferrara, V, additional, Chiti, C, additional, Gimeno Blanes, J R, additional, Graziani, F, additional, Galie', N, additional, Olivotto, I, additional, and Biagini, E, additional

Published
2022
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28. Association between common cardiovascular risk factors and clinical phenotype in patients with hypertrophic cardiomyopathy from the European Society of Cardiology (ESC) EurObservational Research Programme (EORP) Cardiomyopathy/Myocarditis registry

Author

Lopes, Luis R, Losi, Maria-Angela, Sheikh, Nabeel, Laroche, Cécile, Charron, Philippe, Gimeno, Juan, Kaski, Juan P, Maggioni, Aldo P, Tavazzi, Luigi, Arbustini, Eloisa, Brito, Dulce, Celutkiene, Jelena, Hagege, Albert, Linhart, Ales, Mogensen, Jens, Garcia-Pinilla, José Manuel, Ripoll-Vera, Tomas, Seggewiss, Hubert, Villacorta, Eduardo, Caforio, Alida, Elliott, Perry M, Komissarova, S, Chakova, N, Niyazova, S, Linhart, A, Kuchynka, P, Palecek, T, Podzimkova, J, Fikrle, M, Nemecek, E, Bundgaard, H, Tfelt-Hansen, J, Theilade, J, Thune, J J, Axelsson, A, Mogensen, J, Henriksen, F, Hey, T, Nielsen, S K, Videbaek, L, Andreasen, S, Arnsted, H, Saad, A, Ali, M, Lommi, J, Helio, T, Nieminen, M S, Dubourg, O, Mansencal, N, Arslan, M, Tsieu, V Siam, Damy, T, Guellich, A, Guendouz, S, Tissot, C M, Lamine, A, Rappeneau, S, Hagege, A, Desnos, M, Bachet, A, Hamzaoui, M, Charron, P, Isnard, R, Legrand, L, Maupain, C, Gandjbakhch, E, Kerneis, M, Pruny, J-F, Bauer, A, Pfeiffer, B, Felix, S B, Dorr, M, Kaczmarek, S, Lehnert, K, Pedersen, A-L, Beug, D, Bruder, M, Böhm, M, Kindermann, I, Linicus, Y, Werner, C, Neurath, B, Schild-Ungerbuehler, M, Seggewiss, H, Neugebauer, A, Mckeown, P, Muir, A, Mcosker, J, Jardine, T, Divine, G, Elliott, P, Lorenzini, M, Watkinson, O, Wicks, E, Iqbal, H, Mohiddin, S, O'Mahony, C, Sekri, N, Carr-White, G, Bueser, T, Rajani, R, Clack, L, Damm, J, Jones, S, Sanchez-Vidal, R, Smith, M, Walters, T, Wilson, K, Rosmini, S, Anastasakis, A, Ritsatos, K, Vlagkouli, V, Forster, T, Sepp, R, Borbas, J, Nagy, V, Tringer, A, Kakonyi, K, Szabo, L A, Maleki, M, Bezanjani, F Noohi, Amin, A, Naderi, N, Parsaee, M, Taghavi, S, Ghadrdoost, B, Jafari, S, Khoshavi, M, Rapezzi, C, Biagini, E, Corsini, A, Gagliardi, C, Graziosi, M, Longhi, S, Milandri, A, Ragni, L, Palmieri, S, Olivotto, I, Arretini, A, Castelli, G, Cecchi, F, Fornaro, A, Tomberli, B, Spirito, P, Devoto, E, Bella, P Della, Maccabelli, G, Sala, S, Guarracini, F, Peretto, G, Russo, M G, Calabro, R, Pacileo, G, Limongelli, G, Masarone, D, Pazzanese, V, Rea, A, Rubino, M, Tramonte, S, Valente, F, Caiazza, M, Cirillo, A, Del Giorno, G, Esposito, A, Gravino, R, Marrazzo, T, Trimarco, B, Losi, M-A, Nardo, C Di, Giamundo, A, Musella, F, Pacelli, F, Scatteia, A, Canciello, G, Caforio, A, Iliceto, S, Calore, C, Leoni, L, Marra, M Perazzolo, Rigato, I, Tarantini, G, Schiavo, A, Testolina, M, Arbustini, E, Toro, A Di, Giuliani, L P, Serio, A, Fedele, F, Frustaci, A, Alfarano, M, Chimenti, C, Drago, F, Baban, A, Calò, L, Lanzillo, C, Martino, A, Uguccioni, M, Zachara, E, Halasz, G, Re, F, Sinagra, G, Carriere, C, Merlo, M, Ramani, F, Kavoliuniene, A, Krivickiene, A, Tamuleviciute-Prasciene, E, Viezelis, M, Celutkiene, J, Balkeviciene, L, Laukyte, M, Paleviciute, E, Pinto, Y, Wilde, A, Asselbergs, F W, Sammani, A, Van Der Heijden, J, Van Laake, L, De Jonge, N, Hassink, R, Kirkels, J H, Ajuluchukwu, J, Olusegun-Joseph, A, Ekure, E, Mizia-Stec, K, Tendera, M, Czekaj, A, Sikora-Puz, A, Skoczynska, A, Wybraniec, M, Rubis, P, Dziewiecka, E, Wisniowska-Smialek, S, Bilinska, Z, Chmielewski, P, Nieradko, B Foss, Michalak, E, Stepien-Wojno, M, Mazek, B, Lopes, L Rocha, Almeida, A R, Cruz, I, Gomes, A C, Pereira, A R, Brito, D, Madeira, H, Francisco, A R, Menezes, M, Moldovan, O, Guimaraes, T Oliveira, Silva, D, Ginghina, C, Jurcut, R, Mursa, A, Popescu, B A, Apetrei, E, Militaru, S, Coman, I Mircea, Frigy, A, Fogarasi, Z, Kocsis, I, Szabo, I A, Fehervari, L, Nikitin, I, Resnik, E, Komissarova, M, Lazarev, V, Shebzukhova, M, Ustyuzhanin, D, Blagova, O, Alieva, I, Kulikova, V, Lutokhina, Y, Pavlenko, E, Varionchik, N, Ristic, A D, Seferovic, P M, Veljic, I, Zivkovic, I, Milinkovic, I, Pavlovic, A, Radovanovic, G, Simeunovic, D, Zdravkovic, M, Aleksic, M, Djokic, J, Hinic, S, Klasnja, S, Mircetic, K, Monserrat, L, Fernandez, X, Garcia-Giustiniani, D, Larrañaga, J M, Ortiz-Genga, M, Barriales-Villa, R, Martinez-Veira, C, Veira, E, Cequier, A, Salazar-Mendiguchia, J, Manito, N, Gonzalez, J, Fernández-Avilés, F, Medrano, C, Yotti, R, Cuenca, S, Espinosa, M A, Mendez, I, Zatarain, E, Alvarez, R, Pavia, P Garcia, Briceno, A, Cobo-Marcos, M, Dominguez, F, Galvan, E De Teresa, Pinilla, J M García, Abdeselam-Mohamed, N, Lopez-Garrido, M A, Hidalgo, L Morcillo, Ortega-Jimenez, M V, Mezcua, A Robles, Guijarro-Contreras, A, Gomez-Garcia, D, Robles-Mezcua, M, Blanes, J R Gimeno, Castro, F J, Esparza, C Munoz, Molina, M Sabater, García, M Sorli, Cuenca, D Lopez, Ripoll-Vera, T, Alvarez, J, Nunez, J, Gomez, Y, Fernandez, P L Sanchez, Villacorta, E, Avila, C, Bravo, L, Diaz-Pelaez, E, Gallego-Delgado, M, Garcia-Cuenllas, L, Plata, B, Lopez-Haldon, J E, Pena Pena, M L, Perez, E M Cantero, Zorio, E, Arnau, M A, Sanz, J, Marques-Sule, E, Gale, Christopher Peter, Beleslin, Branko, Budaj, Andrzej, Chioncel, Ovidiu, Dagres, Nikolaos, Danchin, Nicolas, Erlinge, David, Emberson, Jonathan, Glikson, Michael, Gray, Alastair, Kayikcioglu, Meral, Maggioni, Aldo, Nagy, Klaudia Vivien, Nedoshivin, Aleksandr, Petronio, Anna-Sonia, Hesselink, Jolien Roo, Wallentin, Lars, Zeymer, Uwe, Caforio, Alida, Blanes, Juan Ramon Gimeno, Charron, Philippe, Elliott, Perry, Kaski, Juan Pablo, Maggioni, Aldo P, Tavazzi, Luigi, Tendera, Michal, Komissarova, S., Chakova, N., Niyazova, S., Linhart, A., Kuchynka, P., Palecek, T., Podzimkova, J., Fikrle, M., Nemecek, E., Bundgaard, H., Tfelt-Hansen, J., Theilade, J., Thune, J J, Axelsson, A., Mogensen, J., Henriksen, F., Hey, T., Nielsen, S K, Videbaek, L., Andreasen, S., Arnsted, H., Saad, A., Ali, M., Lommi, J., Helio, T., Nieminen, M S, Dubourg, O., Mansencal, N., Arslan, M., Tsieu, V Siam, Damy, T., Guellich, A., Guendouz, S., Tissot, C M, Lamine, A., Rappeneau, S., Hagege, A., Desnos, M., Bachet, A., Hamzaoui, M., Charron, P., Isnard, R., Legrand, L., Maupain, C., Gandjbakhch, E., Kerneis, M., Pruny, J-F, Bauer, A., Pfeiffer, B., Felix, S B, Dorr, M., Kaczmarek, S., Lehnert, K., Pedersen, A-L, Beug, D., Bruder, M., Böhm, M., Kindermann, I., Linicus, Y., Werner, C., Neurath, B., Schild-Ungerbuehler, M., Seggewiss, H., Neugebauer, A., McKeown, P., Muir, A., McOsker, J., Jardine, T., Divine, G., Elliott, P., Lorenzini, M., Watkinson, O., Wicks, E., Iqbal, H., Mohiddin, S., O'Mahony, C., Sekri, N., Carr-White, G., Bueser, T., Rajani, R., Clack, L., Damm, J., Jones, S., Sanchez-Vidal, R., Smith, M., Walters, T., Wilson, K., Rosmini, S., Anastasakis, A., Ritsatos, K., Vlagkouli, V., Forster, T., Sepp, R., Borbas, J., Nagy, V., Tringer, A., Kakonyi, K., Szabo, L A, Maleki, M., Bezanjani, F Noohi, Amin, A., Naderi, N., Parsaee, M., Taghavi, S., Ghadrdoost, B., Jafari, S., Khoshavi, M., Rapezzi, C., Biagini, E., Corsini, A., Gagliardi, C., Graziosi, M., Longhi, S., Milandri, A., Ragni, L., Palmieri, S., Olivotto, I., Arretini, A., Castelli, G., Cecchi, F., Fornaro, A., Tomberli, B., Spirito, P., Devoto, E., Bella, P Della, Maccabelli, G., Sala, S., Guarracini, F., Peretto, G., Russo, M G, Calabro, R., Pacileo, G., Limongelli, G., Masarone, D., Pazzanese, V., Rea, A., Rubino, M., Tramonte, S., Valente, F., Caiazza, M., Cirillo, A., Del Giorno, G., Esposito, A., Gravino, R., Marrazzo, T., Trimarco, B., Losi, M-A, Di Nardo, C., Giamundo, A., Musella, F., Pacelli, F., Scatteia, A., Canciello, G., Caforio, A., Iliceto, S., Calore, C., Leoni, L., Marra, M Perazzolo, Rigato, I., Tarantini, G., Schiavo, A., Testolina, M., Arbustini, E., Di Toro, A., Giuliani, L P, Serio, A., Fedele, F., Frustaci, A., Alfarano, M., Chimenti, C., Drago, F., Baban, A., Calò, L., Lanzillo, C., Martino, A., Uguccioni, M., Zachara, E., Halasz, G., Re, F., Sinagra, G., Carriere, C., Merlo, M., Ramani, F., Kavoliūnienė, Aušra, Krivickienė, Aušra, Tamulevičiūtė-Prascienė, Eglė, Vieželis, Mindaugas, Balkevičienė, Laura, Laukytė, M., Palevičiūtė, Eglė, Pinto, Y., Wilde, A., Asselbergs, F W, Sammani, A., Van Der Heijden, J., Van Laake, L., De Jonge, N., Hassink, R., Kirkels, J H, Ajuluchukwu, J., Olusegun-Joseph, A., Ekure, E., Mizia-Stec, K., Tendera, M., Czekaj, A., Sikora-Puz, A., Skoczynska, A., Wybraniec, M., Rubis, P., Dziewiecka, E., Wisniowska-Smialek, S., Bilinska, Z., Chmielewski, P., Foss-Nieradko, B., Michalak, E., Stepien-Wojno, M., Mazek, B., Lopes, L Rocha, Almeida, A R, Cruz, I., Gomes, A C, Pereira, A R, Brito, D., Madeira, H., Francisco, A R, Menezes, M., Moldovan, O., Guimaraes, T Oliveira, Silva, D., Ginghina, C., Jurcut, R., Mursa, A., Popescu, B A, Apetrei, E., Militaru, S., Coman, I Mircea, Frigy, A., Fogarasi, Z., Kocsis, I., Szabo, I A, Fehervari, L., Nikitin, I., Resnik, E., Komissarova, M., Lazarev, V., Shebzukhova, M., Ustyuzhanin, D., Blagova, O., Alieva, I., Kulikova, V., Lutokhina, Y., Pavlenko, E., Varionchik, N., Ristic, A D, Seferovic, P M, Veljic, I., Zivkovic, I., Milinkovic, I., Pavlovic, A., Radovanovic, G., Simeunovic, D., Zdravkovic, M., Aleksic, M., Djokic, J., Hinic, S., Klasnja, S., Mircetic, K., Monserrat, L., Fernandez, X., Garcia-Giustiniani, D., Larrañaga, J M, Ortiz-Genga, M., Barriales-Villa, R., Martinez-Veira, C., Veira, E., Cequier, A., Salazar-Mendiguchia, J., Manito, N., Gonzalez, J., Fernández-Avilés, F., Medrano, C., Yotti, R., Cuenca, S., Espinosa, M A, Mendez, I., Zatarain, E., Alvarez, R., Pavia, P Garcia, Briceno, A., Cobo-Marcos, M., Dominguez, F., Galvan, E De Teresa, Pinilla, J M García, Abdeselam-Mohamed, N., Lopez-Garrido, M A, Hidalgo, L Morcillo, Ortega-Jimenez, M V, Mezcua, A Robles, Guijarro-Contreras, A., Gomez-Garcia, D., Robles-Mezcua, M., Blanes, J R Gimeno, Castro, F J, Esparza, C Munoz, Molina, M Sabater, García, M Sorli, Cuenca, D Lopez, de Mallorca, Palma, Ripoll-Vera, T., Alvarez, J., Nunez, J., Gomez, Y., Fernandez, P L Sanchez, Villacorta, E., Avila, C., Bravo, L., Diaz-Pelaez, E., Gallego-Delgado, M., Garcia-Cuenllas, L., Plata, B., Lopez-Haldon, J E, Pena Pena, M L, Perez, E M Cantero, Zorio, E., Arnau, M A, Sanz, J., Marques-Sule, E., Repositório da Universidade de Lisboa, Lopes, Lr, Losi, Ma, Sheikh, N, Laroche, C, Charron, P, Gimeno, J, Kaski, Jp, Maggioni, Ap, Tavazzi, L, Arbustini, E, Brito, D, Celutkiene, J, Hagege, A, Linhart, A, Mogensen, J, Garcia-Pinilla, Jm, Ripoll-Vera, T, Seggewiss, H, Villacorta, E, Caforio, A, and Elliott, Pm

Subjects
Genotype, Health Policy, Diabetes, Cardiovascular risk factors, Hypertension, Hypertrophic cardiomyopathy, Obesity, Cardiomyopathy, Hypertrophic, Ventricular Dysfunction, Left, diabete, Cardiovascular Diseases, Risk Factors, Heart Disease Risk Factors, cardiovascular risk factor, Humans, Female, 03.02. Klinikai orvostan, Cardiology and Cardiovascular Medicine, Cardiomyopathies, obesity
Abstract

© The Author(s) 2022. Published by Oxford University Press on behalf of the European Society of Cardiology. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited., Aims: The interaction between common cardiovascular risk factors (CVRF) and hypertrophic cardiomyopathy (HCM) is poorly studied. We sought to explore the relation between CVRF and the clinical characteristics of patients with HCM enrolled in the EURObservational Research Programme (EORP) Cardiomyopathy registry. Methods and results: 1739 patients with HCM were studied. The relation between hypertension (HT), diabetes (DM), body mass index (BMI) and clinical traits was analyzed. Analyses were stratified according to the presence or absence of a pathogenic variant in a sarcomere gene.The prevalence of HT, DM and obesity (Ob) was 37%, 10%, and 21%, respectively. HT, DM and Ob were associated with older age (p

Published
2022

29. Current patterns of beta-blocker prescription in cardiac amyloidosis: an Italian nationwide survey

Author

Tini, G, Cappelli, F, Biagini, E, Musumeci, B, Merlo, M, Crotti, L, Cameli, M, Di Bella, G, Cipriani, A, Marzo, F, Guerra, F, Forleo, C, Gagliardi, C, Zampieri, M, Carigi, S, Vianello, P, Mandoli, G, Ciliberti, G, Lichelli, L, Mariani, D, Porcari, A, Russo, D, Licordari, R, Ponziani, A, Porto, I, Perfetto, F, Autore, C, Rapezzi, C, Sinagra, G, Canepa, M, Tini G., Cappelli F., Biagini E., Musumeci B., Merlo M., Crotti L., Cameli M., Di Bella G., Cipriani A., Marzo F., Guerra F., Forleo C., Gagliardi C., Zampieri M., Carigi S., Vianello P. F., Mandoli G. E., Ciliberti G., Lichelli L., Mariani D., Porcari A., Russo D., Licordari R., Ponziani A., Porto I., Perfetto F., Autore C., Rapezzi C., Sinagra G., Canepa M., Tini, G, Cappelli, F, Biagini, E, Musumeci, B, Merlo, M, Crotti, L, Cameli, M, Di Bella, G, Cipriani, A, Marzo, F, Guerra, F, Forleo, C, Gagliardi, C, Zampieri, M, Carigi, S, Vianello, P, Mandoli, G, Ciliberti, G, Lichelli, L, Mariani, D, Porcari, A, Russo, D, Licordari, R, Ponziani, A, Porto, I, Perfetto, F, Autore, C, Rapezzi, C, Sinagra, G, Canepa, M, Tini G., Cappelli F., Biagini E., Musumeci B., Merlo M., Crotti L., Cameli M., Di Bella G., Cipriani A., Marzo F., Guerra F., Forleo C., Gagliardi C., Zampieri M., Carigi S., Vianello P. F., Mandoli G. E., Ciliberti G., Lichelli L., Mariani D., Porcari A., Russo D., Licordari R., Ponziani A., Porto I., Perfetto F., Autore C., Rapezzi C., Sinagra G., and Canepa M.

Abstract

Aims: The use of beta-blocker therapy in cardiac amyloidosis (CA) is debated. We aimed at describing patterns of beta-blocker prescription through a nationwide survey. Methods and results: From 11 referral centres, we retrospectively collected data of CA patients with a first evaluation after 2016 (n = 642). Clinical characteristics at first and last evaluation were collected, with a focus on medical therapy. For patients in whom beta-blocker therapy was started, stopped, or continued between first and last evaluation, the main reason for beta-blocker management was requested. Median age of study population was 77 years; 81% were men. Arterial hypertension was found in 58% of patients, atrial fibrillation (AF) in 57%, and coronary artery disease in 16%. Left ventricular ejection fraction was preserved in 62% of cases, and 74% of patients had advanced diastolic dysfunction. Out of the 250 CA patients on beta-blockers at last evaluation, 215 (33%) were already taking this therapy at first evaluation, while 35 (5%) were started it, in both cases primarily because of high-rate AF. One-hundred-nineteen patients (19%) who were on beta-blocker at first evaluation had this therapy withdrawn, mainly because of intolerance in the presence of heart failure with advanced diastolic dysfunction. The remaining 273 patients (43%) had never received beta-blocker therapy. Beta-blockers usage was similar between CA aetiologies. Patients taking vs. not taking beta-blockers differed only for a greater prevalence of arterial hypertension, coronary artery disease, AF, and non-restrictive filling pattern (P < 0.01 for all) in the former group. Conclusions: Beta-blockers prescription is not infrequent in CA. Such therapy may be tolerated in the presence of co-morbidities for which beta-blockers are routinely used and in the absence of advanced diastolic dysfunction.

Published
2021

30. Clinical Features and Natural History of Preadolescent Nonsyndromic Hypertrophic Cardiomyopathy.

Author

Norrish, G, Cleary, A, Field, E, Cervi, E, Boleti, O, Ziółkowska, L, Olivotto, I, Khraiche, D, Limongelli, G, Anastasakis, A, Weintraub, R, Biagini, E, Ragni, L, Prendiville, T, Duignan, S, McLeod, K, Ilina, M, Fernandez, A, Marrone, C, Bökenkamp, R, Baban, A, Kubus, P, Daubeney, PEF, Sarquella-Brugada, G, Cesar, S, Klaassen, S, Ojala, TH, Bhole, V, Medrano, C, Uzun, O, Brown, E, Gran, F, Sinagra, G, Castro, FJ, Stuart, G, Yamazawa, H, Barriales-Villa, R, Garcia-Guereta, L, Adwani, S, Linter, K, Bharucha, T, Gonzales-Lopez, E, Siles, A, Rasmussen, TB, Calcagnino, M, Jones, CB, De Wilde, H, Kubo, T, Felice, T, Popoiu, A, Mogensen, J, Mathur, S, Centeno, F, Reinhardt, Z, Schouvey, S, Elliott, PM, Kaski, JP, Norrish, G, Cleary, A, Field, E, Cervi, E, Boleti, O, Ziółkowska, L, Olivotto, I, Khraiche, D, Limongelli, G, Anastasakis, A, Weintraub, R, Biagini, E, Ragni, L, Prendiville, T, Duignan, S, McLeod, K, Ilina, M, Fernandez, A, Marrone, C, Bökenkamp, R, Baban, A, Kubus, P, Daubeney, PEF, Sarquella-Brugada, G, Cesar, S, Klaassen, S, Ojala, TH, Bhole, V, Medrano, C, Uzun, O, Brown, E, Gran, F, Sinagra, G, Castro, FJ, Stuart, G, Yamazawa, H, Barriales-Villa, R, Garcia-Guereta, L, Adwani, S, Linter, K, Bharucha, T, Gonzales-Lopez, E, Siles, A, Rasmussen, TB, Calcagnino, M, Jones, CB, De Wilde, H, Kubo, T, Felice, T, Popoiu, A, Mogensen, J, Mathur, S, Centeno, F, Reinhardt, Z, Schouvey, S, Elliott, PM, and Kaski, JP

Abstract

BACKGROUND: Up to one-half of childhood sarcomeric hypertrophic cardiomyopathy (HCM) presents before the age of 12 years, but this patient group has not been systematically characterized. OBJECTIVES: The aim of this study was to describe the clinical presentation and natural history of patients presenting with nonsyndromic HCM before the age of 12 years. METHODS: Data from the International Paediatric Hypertrophic Cardiomyopathy Consortium on 639 children diagnosed with HCM younger than 12 years were collected and compared with those from 568 children diagnosed between 12 and 16 years. RESULTS: At baseline, 339 patients (53.6%) had family histories of HCM, 132 (20.9%) had heart failure symptoms, and 250 (39.2%) were prescribed cardiac medications. The median maximal left ventricular wall thickness z-score was 8.7 (IQR: 5.3-14.4), and 145 patients (27.2%) had left ventricular outflow tract obstruction. Over a median follow-up period of 5.6 years (IQR: 2.3-10.0 years), 42 patients (6.6%) died, 21 (3.3%) underwent cardiac transplantation, and 69 (10.8%) had life-threatening arrhythmic events. Compared with those presenting after 12 years, a higher proportion of younger patients underwent myectomy (10.5% vs 7.2%; P = 0.045), but fewer received primary prevention implantable cardioverter-defibrillators (18.9% vs 30.1%; P = 0.041). The incidence of mortality or life-threatening arrhythmic events did not differ, but events occurred at a younger age. CONCLUSIONS: Early-onset childhood HCM is associated with a comparable symptom burden and cardiac phenotype as in patients presenting later in childhood. Long-term outcomes including mortality did not differ by age of presentation, but patients presenting at younger than 12 years experienced adverse events at younger ages.

Published
2022

31. The role of the electrocardiographic phenotype in risk stratification for sudden cardiac death in childhood hypertrophic cardiomyopathy

Author

Norrish, G, Topriceanu, C, Qu, C, Field, E, Walsh, H, Ziolkowska, L, Olivotto, I, Passantino, S, Favilli, S, Anastasakis, A, Vlagkouli, V, Weintraub, R, King, I, Biagini, E, Ragni, L, Prendiville, T, Duignan, S, McLeod, K, Ilina, M, Fernandez, A, Bokenkamp, R, Baban, A, Drago, F, Kubus, P, Daubeney, PEF, Chivers, S, Sarquella-Brugada, G, Cesar, S, Marrone, C, Medrano, C, Garcia-Roves, RA, Uzun, O, Gran, F, Castro, FJ, Gimeno, JR, Barriales-Villa, R, Rueda, F, Adwani, S, Searle, J, Bharucha, T, Siles, A, Usano, A, Rasmussen, TB, Jones, CB, Kubo, T, Mogensen, J, Reinhardt, Z, Cervi, E, Elliott, PM, Omar, RZ, Kaski, JP, Norrish, G, Topriceanu, C, Qu, C, Field, E, Walsh, H, Ziolkowska, L, Olivotto, I, Passantino, S, Favilli, S, Anastasakis, A, Vlagkouli, V, Weintraub, R, King, I, Biagini, E, Ragni, L, Prendiville, T, Duignan, S, McLeod, K, Ilina, M, Fernandez, A, Bokenkamp, R, Baban, A, Drago, F, Kubus, P, Daubeney, PEF, Chivers, S, Sarquella-Brugada, G, Cesar, S, Marrone, C, Medrano, C, Garcia-Roves, RA, Uzun, O, Gran, F, Castro, FJ, Gimeno, JR, Barriales-Villa, R, Rueda, F, Adwani, S, Searle, J, Bharucha, T, Siles, A, Usano, A, Rasmussen, TB, Jones, CB, Kubo, T, Mogensen, J, Reinhardt, Z, Cervi, E, Elliott, PM, Omar, RZ, and Kaski, JP

Abstract

AIMS: The 12-lead electrocardiogram (ECG) is routinely performed in children with hypertrophic cardiomyopathy (HCM). An ECG risk score has been suggested as a useful tool for risk stratification, but this has not been independently validated. This aim of this study was to describe the ECG phenotype of childhood HCM in a large, international, multi-centre cohort and investigate its role in risk prediction for arrhythmic events. METHODS AND RESULTS: Data from 356 childhood HCM patients with a mean age of 10.1 years (±4.5) were collected from a retrospective, multi-centre international cohort. Three hundred and forty-seven (97.5%) patients had ECG abnormalities at baseline, most commonly repolarization abnormalities (n = 277, 77.8%); left ventricular hypertrophy (n = 240, 67.7%); abnormal QRS axis (n = 126, 35.4%); or QT prolongation (n = 131, 36.8%). Over a median follow-up of 3.9 years (interquartile range 2.0-7.7), 25 (7%) had an arrhythmic event, with an overall annual event rate of 1.38 (95% CI 0.93-2.04). No ECG variables were associated with 5-year arrhythmic event on univariable or multivariable analysis. The ECG risk score threshold of >5 had modest discriminatory ability [C-index 0.60 (95% CI 0.484-0.715)], with corresponding negative and positive predictive values of 96.7% and 6.7. CONCLUSION: In a large, international, multi-centre cohort of childhood HCM, ECG abnormalities were common and varied. No ECG characteristic, either in isolation or combined in the previously described ECG risk score, was associated with 5-year sudden cardiac death risk. This suggests that the role of baseline ECG phenotype in improving risk stratification in childhood HCM is limited.

Published
2022

32. Relationship Between Maximal Left Ventricular Wall Thickness and Sudden Cardiac Death in Childhood Onset Hypertrophic Cardiomyopathy.

Author

Norrish, G, Ding, T, Field, E, Cervi, E, Ziółkowska, L, Olivotto, I, Khraiche, D, Limongelli, G, Anastasakis, A, Weintraub, R, Biagini, E, Ragni, L, Prendiville, T, Duignan, S, McLeod, K, Ilina, M, Fernández, A, Marrone, C, Bökenkamp, R, Baban, A, Kubus, P, Daubeney, PEF, Sarquella-Brugada, G, Cesar, S, Klaassen, S, Ojala, TH, Bhole, V, Medrano, C, Uzun, O, Brown, E, Gran, F, Sinagra, G, Castro, FJ, Stuart, G, Vignati, G, Yamazawa, H, Barriales-Villa, R, Garcia-Guereta, L, Adwani, S, Linter, K, Bharucha, T, Garcia-Pavia, P, Siles, A, Rasmussen, TB, Calcagnino, M, Jones, CB, De Wilde, H, Kubo, T, Felice, T, Popoiu, A, Mogensen, J, Mathur, S, Centeno, F, Reinhardt, Z, Schouvey, S, O'Mahony, C, Omar, RZ, Elliott, PM, Kaski, JP, Norrish, G, Ding, T, Field, E, Cervi, E, Ziółkowska, L, Olivotto, I, Khraiche, D, Limongelli, G, Anastasakis, A, Weintraub, R, Biagini, E, Ragni, L, Prendiville, T, Duignan, S, McLeod, K, Ilina, M, Fernández, A, Marrone, C, Bökenkamp, R, Baban, A, Kubus, P, Daubeney, PEF, Sarquella-Brugada, G, Cesar, S, Klaassen, S, Ojala, TH, Bhole, V, Medrano, C, Uzun, O, Brown, E, Gran, F, Sinagra, G, Castro, FJ, Stuart, G, Vignati, G, Yamazawa, H, Barriales-Villa, R, Garcia-Guereta, L, Adwani, S, Linter, K, Bharucha, T, Garcia-Pavia, P, Siles, A, Rasmussen, TB, Calcagnino, M, Jones, CB, De Wilde, H, Kubo, T, Felice, T, Popoiu, A, Mogensen, J, Mathur, S, Centeno, F, Reinhardt, Z, Schouvey, S, O'Mahony, C, Omar, RZ, Elliott, PM, and Kaski, JP

Abstract

BACKGROUND: Maximal left ventricular wall thickness (MLVWT) is a risk factor for sudden cardiac death (SCD) in hypertrophic cardiomyopathy (HCM). In adults, the severity of left ventricular hypertrophy has a nonlinear relationship with SCD, but it is not known whether the same complex relationship is seen in childhood. The aim of this study was to describe the relationship between left ventricular hypertrophy and SCD risk in a large international pediatric HCM cohort. METHODS: The study cohort comprised 1075 children (mean age, 10.2 years [±4.4]) diagnosed with HCM (1-16 years) from the International Paediatric Hypertrophic Cardiomyopathy Consortium. Anonymized, noninvasive clinical data were collected from baseline evaluation and follow-up, and 5-year estimated SCD risk was calculated (HCM Risk-Kids). RESULTS: MLVWT Z score was <10 in 598 (58.1%), ≥10 to <20 in 334 (31.1%), and ≥20 in 143 (13.3%). Higher MLVWT Z scores were associated with heart failure symptoms, unexplained syncope, left ventricular outflow tract obstruction, left atrial dilatation, and nonsustained ventricular tachycardia. One hundred twenty-two patients (71.3%) with MLVWT Z score ≥20 had coexisting risk factors for SCD. Over a median follow-up of 4.9 years (interquartile range, 2.3-9.3), 115 (10.7%) had an SCD event. Freedom from SCD event at 5 years for those with MLVWT Z scores <10, ≥10 to <20, and ≥20 was 95.6%, 87.4%, and 86.0, respectively. The estimated SCD risk at 5 years had a nonlinear, inverted U-shaped relationship with MLVWT Z score, peaking at Z score +23. The presence of coexisting risk factors had a summative effect on risk. CONCLUSIONS: In children with HCM, an inverted U-shaped relationship exists between left ventricular hypertrophy and estimated SCD risk. The presence of additional risk factors has a summative effect on risk. While MLVWT is important for risk stratification, it should not be used either as a binary variable or in isolation to guide implantable cardioverter def

Published
2022

33. A national survey on prevalence of possible echocardiographic red flags of amyloid cardiomyopathy in consecutive patients undergoing routine echocardiography: study design and patients characterization-the first insight from the AC-TIVE Study

Author

Merlo, M, Porcari, A, Pagura, L, Cameli, M, Vergaro, G, Musumeci, B, Biagini, E, Canepa, M, Crotti, L, Imazio, M, Forleo, C, Cappelli, F, Favale, S, Di Bella, G, Dore, F, Lombardi, C, Pavasini, R, Rella, V, Palmiero, G, Caiazza, M, Albanese, M, Guaricci, A, Branzi, G, Caponetti, A, Saturi, G, La Malfa, G, Merlo, A, Andreis, A, Bruno, F, Longo, F, Sfriso, E, Di Ienno, L, De Carli, G, Giacomin, E, Spini, V, Milidoni, A, Limongelli, G, Autore, C, Olivotto, I, Badano, L, Parati, G, Perlini, S, Metra, M, Emdin, M, Rapezzi, C, Sinagra, G, Merlo, Marco, Porcari, Aldostefano, Pagura, Linda, Cameli, Matteo, Vergaro, Giuseppe, Musumeci, Beatrice, Biagini, Elena, Canepa, Marco, Crotti, Lia, Imazio, Massimo, Forleo, Cinzia, Cappelli, Francesco, Favale, Stefano, Di Bella, Gianluca, Dore, Franca, Lombardi, Carlo Mario, Pavasini, Rita, Rella, Valeria, Palmiero, Giuseppe, Caiazza, Martina, Albanese, Miriam, Guaricci, Andrea Igoren, Branzi, Giovanna, Caponetti, Angelo Giuseppe, Saturi, Giulia, La Malfa, Giovanni, Merlo, Andrea Carlo, Andreis, Alessandro, Bruno, Francesco, Longo, Francesca, Sfriso, Enrico, Di Ienno, Luca, De Carli, Giuseppe, Giacomin, Elisa, Spini, Valentina, Milidoni, Antonino, Limongelli, Giuseppe, Autore, Camillo, Olivotto, Iacopo, Badano, Luigi, Parati, Gianfranco, Perlini, Stefano, Metra, Marco, Emdin, Michele, Rapezzi, Claudio, Sinagra, Gianfranco, Merlo, M, Porcari, A, Pagura, L, Cameli, M, Vergaro, G, Musumeci, B, Biagini, E, Canepa, M, Crotti, L, Imazio, M, Forleo, C, Cappelli, F, Favale, S, Di Bella, G, Dore, F, Lombardi, C, Pavasini, R, Rella, V, Palmiero, G, Caiazza, M, Albanese, M, Guaricci, A, Branzi, G, Caponetti, A, Saturi, G, La Malfa, G, Merlo, A, Andreis, A, Bruno, F, Longo, F, Sfriso, E, Di Ienno, L, De Carli, G, Giacomin, E, Spini, V, Milidoni, A, Limongelli, G, Autore, C, Olivotto, I, Badano, L, Parati, G, Perlini, S, Metra, M, Emdin, M, Rapezzi, C, Sinagra, G, Merlo, Marco, Porcari, Aldostefano, Pagura, Linda, Cameli, Matteo, Vergaro, Giuseppe, Musumeci, Beatrice, Biagini, Elena, Canepa, Marco, Crotti, Lia, Imazio, Massimo, Forleo, Cinzia, Cappelli, Francesco, Favale, Stefano, Di Bella, Gianluca, Dore, Franca, Lombardi, Carlo Mario, Pavasini, Rita, Rella, Valeria, Palmiero, Giuseppe, Caiazza, Martina, Albanese, Miriam, Guaricci, Andrea Igoren, Branzi, Giovanna, Caponetti, Angelo Giuseppe, Saturi, Giulia, La Malfa, Giovanni, Merlo, Andrea Carlo, Andreis, Alessandro, Bruno, Francesco, Longo, Francesca, Sfriso, Enrico, Di Ienno, Luca, De Carli, Giuseppe, Giacomin, Elisa, Spini, Valentina, Milidoni, Antonino, Limongelli, Giuseppe, Autore, Camillo, Olivotto, Iacopo, Badano, Luigi, Parati, Gianfranco, Perlini, Stefano, Metra, Marco, Emdin, Michele, Rapezzi, Claudio, and Sinagra, Gianfranco

Published
2022

34. C64 UNMASKING THE PREVALENCE OF AMYLOID CARDIOMYOPATHY IN THE REAL WORLD: RESULTS FROM PHASE 2 OF AC–TIVE STUDY, AN ITALIAN NATIONWIDE SURVEY

Author

Merlo, M, primary, Pagura, L, additional, Porcari, A, additional, Cameli, M, additional, Vergaro, G, additional, Musumeci, B, additional, Biagini, E, additional, Canepa, M, additional, Crotti, L, additional, Imazio, M, additional, Forleo, C, additional, Cappelli, F, additional, Favale, S, additional, Di Bella, G, additional, Dore, F, additional, Girardi, F, additional, Tomasoni, D, additional, Pavasini, R, additional, Rella, V, additional, Palmiero, G, additional, Caiazza, M, additional, Albanese, M, additional, Igoren Guarrucci, A, additional, Branzi, G, additional, Caponetti, A, additional, Saturi, G, additional, La Malfa, G, additional, Merlo, A, additional, Andreis, A, additional, Bruno, F, additional, Longo, F, additional, Rossi, M, additional, Varra‘, G, additional, Saro, R, additional, Di Ienno, L, additional, De Carli, G, additional, Giacomin, E, additional, Spini, V, additional, Limongelli, G, additional, Autore, C, additional, Olivotto, I, additional, Badano, L, additional, Parati, G, additional, Perlini, S, additional, Metra, M, additional, Emdin, M, additional, Rapezzi, C, additional, and Sinagra, G, additional

Published
2022
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35. Current use of cardiac magnetic resonance in tertiary referral centres for the diagnosis of cardiomyopathy: the ESC EORP Cardiomyopathy/Myocarditis Registry

Author

Mizia-Stec K, Charron P, Gimeno Blanes JR, Elliott P, Kaski JP, Maggioni AP, Tavazzi L, Tendera M, Felix SB, Dominguez F, Ojrzynska N, Losi MA, Limongelli G, Barriales-Villa R, Seferovic PM, Biagini E, Wybraniec M, Laroche C, Caforio ALP, Mizia-Stec, K, Charron, P, Gimeno Blanes, Jr, Elliott, P, Kaski, Jp, Maggioni, Ap, Tavazzi, L, Tendera, M, Felix, Sb, Dominguez, F, Ojrzynska, N, Losi, Ma, Limongelli, G, Barriales-Villa, R, Seferovic, Pm, Biagini, E, Wybraniec, M, Laroche, C, and Caforio, Alp

Subjects
transthoracic echocardiography, registry, cardiomyopathy, cardiac magnetic resonance
Abstract

ims: Cardiac magnetic resonance (CMR) is recommended in the diagnosis of cardiomyopathies, but it is time-consuming, expensive, and limited in availability in some European regions. The aim of this study was to determine the use of CMR in cardiomyopathy patients enrolled into the European Society of Cardiology (ESC) cardiomyopathy registry [part of the EURObservational Research Programme (EORP)]. Methods and results: Three thousand, two hundred, and eight consecutive adult patients (34.6% female; median age: 53.0 ± 15 years) with cardiomyopathy were studied: 1260 with dilated (DCM), 1739 with hypertrophic (HCM), 66 with restrictive (RCM), and 143 with arrhythmogenic right ventricular cardiomyopathy (ARVC). CMR scans were performed at baseline in only 29.4% of patients. CMR utilization was variable according to cardiomyopathy subtypes: from 51.1% in ARVC to 36.4% in RCM, 33.8% in HCM, and 20.6% in DCM (P < 0.001). CMR use in tertiary referral centres located in different European countries varied from 1% to 63.2%. Patients undergoing CMR were younger, less symptomatic, less frequently had implantable cardioverter-defibrillator (ICD)/pacemaker implanted, had fewer cardiovascular risk factors and comorbidities (P < 0.001). In 28.6% of patients, CMR was used along with transthoracic echocardiography (TTE); 67.6% patients underwent TTE alone, and 0.9% only CMR. Conclusion: Less than one-third of patients enrolled in the registry underwent CMR and the use varied greatly between cardiomyopathy subtypes, clinical profiles of patients, and European tertiary referral centres. This gap with current guidelines needs to be considered carefully by scientific societies to promote wider availability and use of CMR in patients with cardiomyopathies.

Published
2021

36. Different aortic valve calcium scores by computed tomography scan in patients with severe aortic stenosis and concomitant cardiac amyloidosis

Author

Saturi, G, primary, Santona, L, additional, Sguazzotti, M S, additional, Caponetti, A G, additional, Massa, P, additional, Ponziani, A, additional, Gagliardi, C, additional, Giovannetti, A G, additional, Lovato, L, additional, Attina, D, additional, Bonfiglioli, R, additional, Saia, F, additional, Galie, N, additional, Biagini, E, additional, and Longhi, S, additional

Published
2021
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37. Analysis of characteristics and prognostic impact of phenotypes in hereditary ATTR

Author

Sguazzotti, M, primary, Caponetti, A G, additional, Saturi, G, additional, Ponziani, A, additional, Massa, P, additional, Dal Passo, B, additional, Accietto, A, additional, Longhi, S, additional, Bonfiglioli, R, additional, Mattana, F, additional, Guaraldi, P, additional, Cortelli, P, additional, Galie, N, additional, Biagini, E, additional, and Gagliardi, C, additional

Published
2021
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41. Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity

Author

Harper, A. R., Goel, A., Grace, C., Thomson, K. L., Petersen, S. E., Xu, X., Waring, A., Ormondroyd, E., Kramer, C. M., C. Y., Ho, Neubauer, S., Kolm, P., Kwong, R., Dolman, S. F., Desvigne-Nickens, P., Dimarco, J. P., Geller, N., Kim, D. -Y., Zhang, C., Weintraub, W., Abraham, T., Anderson, L., Appelbaum, E., Autore, C., Berry, C., Biagini, E., Bradlow, W., Bucciarelli-Ducci, C., Chiribiri, A., Choudhury, L., Crean, A., Dawson, D., Desai, M. Y., Elstein, E., Flett, A., Friedrich, M., Heitner, S., Helms, A., Jacoby, D. L., Kim, H., Kim, B., Larose, E., Mahmod, M., Mahrholdt, H., Maron, M., Mccann, G., Michels, M., Mohiddin, S., Nagueh, S., Newby, D., Olivotto, I., Owens, A., Pierre-Mongeon, F., Prasad, S., Rimoldi, O., Salerno, M., Schulz-Menger, J., Sherrid, M., Swoboda, P., van Rossum, A., Weinsaft, J., White, J., Williamson, E., Tadros, R., Ware, J. S., Bezzina, C. R., Farrall, M., Watkins, H., Cardiology, and ACS - Heart failure & arrhythmias

Subjects
LOCI, Genome-wide association study, Blood Pressure, Bioinformatics, DISEASE, SYSTOLIC HYPERTENSION, 0302 clinical medicine, Adolescent, Adult, Aged, Cardiac Myosins, Cardiomyopathy, Hypertrophic, Carrier Proteins, Case-Control Studies, Formins, Genetic Predisposition to Disease, Genome-Wide Association Study, Heterozygote, Humans, Middle Aged, Myosin Heavy Chains, Risk Factors, Sarcomeres, Young Adult, Polymorphism, Single Nucleotide, 11 Medical and Health Sciences, Genetics & Heredity, 0303 health sciences, Hypertrophic cardiomyopathy, Single Nucleotide, 3. Good health, GENOTYPE, cardiovascular system, Life Sciences & Biomedicine, Cardiomyopathy, macromolecular substances, Biology, AMERICAN-COLLEGE, 03 medical and health sciences, Heart disorder, Mendelian randomization, Genetics, medicine, Expressivity (genetics), cardiovascular diseases, Risk factor, GENOME-WIDE ASSOCIATION, Polymorphism, 030304 developmental biology, HCMR Investigators, Science & Technology, Genetic heterogeneity, Case-control study, 06 Biological Sciences, medicine.disease, Hypertrophic, DISCOVERY, 030217 neurology & neurosurgery, Developmental Biology
Abstract

Hypertrophic cardiomyopathy (HCM) is a common, serious, genetic heart disorder. Rare pathogenic variants in sarcomere genes cause HCM, but with unexplained phenotypic heterogeneity. Moreover, most patients do not carry such variants. We report a genome-wide association study of 2,780 cases and 47,486 controls that identified 12 genome-wide-significant susceptibility loci for HCM. Single-nucleotide polymorphism heritability indicated a strong polygenic influence, especially for sarcomere-negative HCM (64% of cases; h2g = 0.34 ± 0.02). A genetic risk score showed substantial influence on the odds of HCM in a validation study, halving the odds in the lowest quintile and doubling them in the highest quintile, and also influenced phenotypic severity in sarcomere variant carriers. Mendelian randomization identified diastolic blood pressure (DBP) as a key modifiable risk factor for sarcomere-negative HCM, with a one standard deviation increase in DBP increasing the HCM risk fourfold. Common variants and modifiable risk factors have important roles in HCM that we suggest will be clinically actionable.

Published
2021

44. Mortality among Referral Patients with Hypertrophic Cardiomyopathy vs the General European Population

Author

Lorenzini, M. Anastasiou, Z. O'Mahony, C. Guttman, O.P. Gimeno, J.R. Monserrat, L. Anastasakis, A. Rapezzi, C. Biagini, E. Garcia-Pavia, P. Limongelli, G. Pavlou, M. Elliott, P.M.

Abstract

Importance: It is unclear whether hypertrophic cardiomyopathy (HCM) conveys excess mortality when compared with the general population. Objective: To compare the survival of patients with HCM with that of the general European population. Design, Setting, and Participants: Retrospective cohort study of 4893 consecutive adult patients with HCM presenting at 7 European referral centers between 1980 and 2013. The data were analyzed between April 2018 and August 2019. Main Outcomes and Measures: Survival was compared using standardized mortality ratios (SMRs) calculated with data from Eurostat, stratified by study period, country, sex, and age, and using a composite end point in the HCM cohort of all-cause mortality, aborted sudden cardiac death, and heart transplant. Results: Of 4893 patients with HCM, 3126 (63.9%) were male, and the mean (SD) age at presentation was 49.2 (16.4) years. During a median follow-up of 6.2 years (interquartile range, 3.1-9.8 years), 721 patients (14.7%) reached the composite end point. Compared with the general population, patients with HCM had excess mortality throughout the age spectrum (SMR, 2.0, 95% CI, 1.48-2.63). Excess mortality was highest among patients presenting prior to the year 2000 but persisted in the cohort presenting between 2006 and 2013 (SMR, 1.84; 95% CI, 1.55-2.18). Women had higher excess mortality than men (SMR, 2.66; 95% CI, 2.38-2.97; vs SMR, 1.68; 95% CI, 1.52-1.85; P

Published
2020

45. Prospective follow-up in various subtypes of cardiomyopathies: Insights from the EORP Cardiomyopathy Registry of the ESC

Author

Gimeno, J., primary, Elliott, P.M., additional, Tavazzi, L., additional, Tendera, M., additional, Kaski, J.P., additional, Laroche, C., additional, Barriales, R., additional, Seferovic, P., additional, Biagini, E., additional, Arbustini, E., additional, Rochas Lopes, L., additional, Linhart, A., additional, Mogensen, J., additional, Hagège, A., additional, Espinosa, M.A., additional, Saad, A., additional, Maggioni, A.P., additional, Caforio, A.L.P., additional, and Charron, P., additional

Published
2021
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46. Impact on clinical outcomes of right ventricular response to percutaneous correction of secondary mitral regurgitation

Author

Caiffa, T, primary, Castrichini, M, additional, Biagini, E, additional, De Luca, A, additional, Compagnone, M, additional, Berardini, A, additional, Merlo, M, additional, Fabris, E, additional, Vitrella, G, additional, Pinamonti, B, additional, Korcova, R, additional, Barbati, G, additional, Saia, F, additional, Stolfo, D, additional, and Sinagra, G, additional

Published
2021
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48. Cardiac tissue characterization with t1 and t2 mapping in anderson fabry patients: new pathophysiological concepts and early cardiac involvement

Author

Zanoni, R, primary, Ferrara, V, additional, Lanati, G, additional, Vitale, G, additional, Di Nicola, F, additional, Pasquale, F, additional, Graziosi, M, additional, Berardini, A, additional, Ditaranto, R, additional, Niro, F, additional, Lovato, L, additional, Rapezzi, C, additional, Galie', N, additional, and Biagini, E, additional

Published
2020
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49. Electrocardiographic differences between Anderson-Fabry and sarcomeric hypertrophic cardiomyopathy and correlation with cardiac magnetic resonance

Author

Vitale, G, primary, Di Nicola, F, additional, Tanini, I, additional, Camporeale, A, additional, Graziani, F, additional, Ditaranto, R, additional, Zanoni, R, additional, Ferrara, V, additional, Lombardi, M, additional, Olivotto, I, additional, Rapezzi, C, additional, Galie, N, additional, and Biagini, E, additional

Published
2020
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