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Aims: Cardiac amyloidosis (CA) is due to a deposition of amyloid fibrils in the heart causing an increase in wall thickness. A left ventricular (LV) wall thickness ≥12 mm plus at least one red flag should raise the suspicion of CA. As normal values of LV wall thickness are lower in women, the adoption or the same cut-off values for men and women could lead to underdiagnosis or delayed diagnosis in women. We investigated the relationship between LV wall thickness and the severity of cardiac involvement in women and men with transthyretin (ATTR) CA., Methods and Results: We evaluated 330 consecutive patients diagnosed with ATTR-CA at three centres (Pisa, n = 232; Brescia, n = 69; Trieste, n = 29). Interventricular septum (IVS) and posterior wall (PW) thickness values were lower in women (n = 53, 16%) than men, but most differences were abolished when indexing by body surface area (BSA), height, or height 2.7 , suggesting similar disease severity when accounting for the smaller body size of women. PW thickness indexed for height 2.7 was even higher in women. We also searched for correlations between IVS and PW thickness and other indicators of the severity of cardiac disease. IVS values indexed by height 2.7 displayed tighter associations with N-terminal pro-B-type natriuretic peptide values than non-indexed IVS values. Similarly, indexed values displayed closer relationships with relative wall thickness, E/e' ratio, and tricuspid annular plane systolic excursion., Conclusions: Indexed LV wall thickness values, particularly by height 2.7 , reflect more accurately the severity of cardiac involvement than non-indexed values., (© 2023 The Authors. European Journal of Heart Failure published by John Wiley & Sons Ltd on behalf of European Society of Cardiology.)

Background: The multidisciplinary network of Emilia-Romagna for the study of juvenile sudden cardiac death (SCD) was started in Bologna in June 2018 in order to: (1) define the spectrum of etiologies and mechanisms of SCD in young people; (ii) standardize diagnostic terminology and categories; (iii) identify potentially hereditary genetic heart diseases and define the contribution of post-mortem genetic analysis (so-called molecular autopsy) to the overall diagnostic process; (iv) identify preclinical forms of the pathologies in the first-degree relatives of the deceased subject using both phenotypic and genotypic evaluation and, where possible, undertake therapeutic/prophylactic measures (primary prevention)., Methods: In the first 2 years of activity (01/06/2018-27/08/2020) 50 cases of SCD came to the attention of the Cardiovascular Pathology Unit of the S. Orsola-Malpighi Polyclinic in Bologna, from Centres of Forensic Medicine and Pathological Anatomy in most of the region., Results: Sixty-two percent of cases were sent by forensic pathologists, 36% by clinical pathologists and 2% by the family of the deceased. Medico-legal cases were prompted by autopsies requested by the Judicial Authority in 70% of cases; 55.5% of patients referred by pathologists came from the Cardiovascular Tissue Bank, as part of the regional program for the quality and safety control of organs and tissues from multiorgan-multitissue donors. The average age of the subjects was 35 ± 13.6 years (70% male, range: 1-55 years; median: 38 years). The spectrum of the final diagnoses includes: structurally normal hearts 14%, cardiomyopathies 40%, coronary heart disease 23%, Brugada syndrome 6%, aortic dissection 4%, substance abuse 6%, valvular heart disease 2%, mixed causes 2%., Conclusions: The network is necessarily centered on post-mortem pathological activities, but it does not end with these. If in 60% of cases the pathological autopsy examination was decisive in identifying the cause of death, in the other cases a detailed final diagnosis was reached only with more complex pathways involving molecular genetics, clinical genetics, and toxicology.

Tissue characterization represents a prerogative of cardiac magnetic resonance. Beside late gadolinium enhancement, native T1 mapping (nT1m) reveals tissue composition. It could represent a useful tool for example when contrast medium can't be administrated. The present review summarises current evidence about nT1m in main heart diseases., (Copyright © 2020 Elsevier Inc. All rights reserved.)

Cardiac amyloidosis is a serious and progressive infiltrative disease that is caused by the deposition of amyloid fibrils at the cardiac level. It can be due to rare genetic variants in the hereditary forms or as a consequence of acquired conditions. Thanks to advances in imaging techniques and the possibility of achieving a non-invasive diagnosis, we now know that cardiac amyloidosis is a more frequent disease than traditionally considered. In this position paper the Working Group on Myocardial and Pericardial Disease proposes an invasive and non-invasive definition of cardiac amyloidosis, addresses clinical scenarios and situations to suspect the condition and proposes a diagnostic algorithm to aid diagnosis. Furthermore, we also review how to monitor and treat cardiac amyloidosis, in an attempt to bridge the gap between the latest advances in the field and clinical practice., (© European Society of Cardiology 2021 This article has been co-published with permission in European Heart Journal (published by Oxford University Press on behalf of European Society of Cardiology) and European Journal of Heart Failure (published by John Wiley & Sons Ltd on behalf of European Society of Cardiology) These articles are identical except for minor stylistic and spelling differences in keeping with each journal’s style. Either citation can be used when citing this article.)

Cardiac amyloidosis is a serious and progressive infiltrative disease that is caused by the deposition of amyloid fibrils at the cardiac level. It can be due to rare genetic variants in the hereditary forms or as a consequence of acquired conditions. Thanks to advances in imaging techniques and the possibility of achieving a non-invasive diagnosis, we now know that cardiac amyloidosis is a more frequent disease than traditionally considered. In this position paper the Working Group on Myocardial and Pericardial Disease proposes an invasive and non-invasive definition of cardiac amyloidosis, addresses clinical scenarios and situations to suspect the condition and proposes a diagnostic algorithm to aid diagnosis. Furthermore, we also review how to monitor and treat cardiac amyloidosis, in an attempt to bridge the gap between the latest advances in the field and clinical practice., (© European Society of Cardiology 2021.)

Background: Intracardiac thrombosis is reported to occur frequently in cardiac amyloidosis (CA). However, data regarding arterial thrombo-embolic events (AEs) in CA are limited. We aimed at assessing prevalence, clinical characteristics and predictors of AEs in a large multicentric CA cohort., Methods and Results: Four-hundred-six consecutive CA patients (134 AL, 73 ATTRm and 199 ATTRwt) from 5 Italian referral centres were retrospectively evaluated and followed-up for a median time of 19 months. Thirty-one patients (7.6%) suffered from an AE, of whom 10 (32.2%) were in sinus rhythm and had no history of AF. There were no significant differences in terms of age, gender and type of CA between patients with or without AEs. Fourteen (7.6%) of 185 patients on anticoagulation had an AE despite therapy. Anticoagulation therapy did not appear to fully protect from the risk of events (HR 1.23, 95%CI 0.52-2.92, p  = .64). The only predictor of AEs, in particular among CA patients in sinus rhythm, was a CHA2DS2-VASC score ≥ 3 (HR 2.84, 95%CI 1.02-7.92, p  = .05 in overall population; HR 10.13, 95%CI 1.12-91.19, p  = .04 in patients in sinus rhythm)., Conclusions: In our large, multicentric, real-world cohort, prevalence and incidence rate of AEs was high. A consistent proportion of events occurred despite anticoagulation therapy or in patients in sinus rhythm. A higher CHA2DS2-VASc score might identify patients at risk of AEs also among those in sinus rhythm.

Mucopolysaccharidoses (MPS) represent a group of rare lysosomal storage disorders, with a heterogeneous clinical presentation in terms of inheritance (autosomal and X-linked recessive), age of onset (infants, children, and adults), systemic and cardiac manifestations (mild to severe disease forms). Evidence-based recommendations on the diagnosis and management of cardiovascular disease in MPS are scarce. GICEM (Gruppo Italiano Cardiologi Esperti Malattie Metaboliche) is a group of cardiologists, cardiac surgeons and pediatricians with a specific expertise in metabolic diseases including MPS. In this paper, we report our experience and recommendations on the diagnosis and management of cardiovascular aspects in MPS, with a tailored approach based on current evidence, and taking into account MPS phenotype (particularly, I, II, IVa, VI), age at presentation, and severity of systemic and cardiac manifestations.

Multimodal imaging plays a pivotal role in the assessment of the thoracic aorta, both in chronic and acute settings. Moving from improved knowledge on the structure and function of the aortic wall, as well as on its pathophysiology and histopathology, appropriate utilization of each imaging modality results into a better definition of the patient's need and proper treatment strategy. This review is aimed at highlighting the most critical aspects in this field, providing cardiologists with some novel clues for the imaging approach to patients with thoracic aortic disease.

The term cardiac amyloidosis refers to the involvement of the heart as a result of amyloid deposition in heart tissue either in the context of a systemic disease or as a localized form. Several proamyloid proteins can produce amyloid deposits in the heart. Each of these amyloidoses has characteristic clinical (cardiac and extracardiac) features, its own course, and a specific diagnosis and treatment. Since cardiac involvement may be the first-manifestation of amyloidosis, the cardiologist may be the first healthcare professional to see the patient and must always consider this diagnosis. In this review, we consider the amyloidosis characteristics that may present with cardiac involvement, from the cardiologist's viewpoint and in light of our experience. We review in detail when and how to establish the diagnosis and how to treat these patients' cardiac involvement and the underlying amyloid disease., (Copyright © 2011 Sociedad Española de Cardiología. Published by Elsevier Espana. All rights reserved.)

The Italian Scientific Associations of Cardiologists and Cardiovascular Pathologists have produced this consensus document on the diagnostic role of endomyocardial biopsy (EMB) in terms of techniques, analysis and reporting. The document is intended for clinical cardiologists, hemodynamic experts, electrophysiologists, surgical pathologists, and cardiac surgeons. It has three main aims: a) to collocate EMB in the context of currently available tools for diagnosis of heart diseases; b) to provide recommendations for rational implementation; c) to outline key characteristics (standards) for Italian cardiology and surgical pathology centers that perform and analyze EMB. A general lack of prospective, controlled studies addressing EMB prohibited the use of traditional evidence-based recommendations that rely on classes of available evidence. Thus, it was agreed that three key points should be taken into account: a) the specific pathology to be diagnosed (or excluded); b) the existence of any alternative, non-invasive diagnostic techniques; c) the overall consequences of reaching a definite diagnosis on patients' clinical management. Accordingly, we propose recommendations for EMB based on the following levels of diagnostic value: level 1: no alternative method exists to reach a definite diagnosis that can have obvious consequences for clinical management; level 2a: no alternative method exists to reach a definite diagnosis; however, the implications for clinical management are uncertain; level 2b: no alternative method exists to reach a definite diagnosis; however, the diagnosis would not influence clinical management; level 3: an alternative method exists to reach a definite diagnosis. The second part of the document proposes current protocols for the preparation, analysis and reporting of EMB in the context of each main pathologic entity. Particular attention is given to tissue characterization and implementation of molecular tests.

Sudden cardiac death (SCD) is the most common cause of death and often occurs in low-risk patients. Present prevention strategies, mainly confined to high-risk subjects (proposed implantable cardioverter defibrillators recipients), have a limited effect on SCD burden in the general population. A relatively unexplored strategy for extending SCD prevention could imply targeting the early (upstream) processes of the complex cascade leading to SCD by non-antiarrhythmic drugs (i.e., beta-blockers, aldosterone antagonists, angiotensin-converting enzyme inhibitors, angiotensin receptor-blocker agents, statins and omega-3 fatty acids). In this innovative pharmacological perspective, agents with upstream effects may also be used in high-risk patients in association with a strictly downstream intervention, such as the implantable cardioverter defibrillator, in an attempt to obtain an additive/synergetic effect.

Objectives: We investigated the diagnostic accuracy of 99mTc-3,3-diphosphono-1,2-propanodicarboxylic acid (99mTc-DPD) scintigraphy for differentiation of monoclonal immunoglobulin light-chain (AL) and transthyretin (TTR)-related cardiac amyloidosis., Background: Differential diagnosis between TTR-related and AL amyloidosis is often complex and time-consuming., Methods: Patients under routine observation with TTR-related/AL systemic amyloidosis and echocardiographic evidence of cardiac involvement were studied with 99mTc-DPD scintigraphy., Results: Patients with cardiac involvement of TTR-related (group A; n = 15) and AL (group B; n = 10) etiology were comparable for left ventricular mass and renal function. Heart and heart/whole-body tracer retention were significantly higher (p < 0.05) in group A as compared with group B and with 10 unaffected controls. At visual scoring, cardiac 99mTc-DPD uptake was present in all group A patients and absent in all group B patients; thus, using genotyping/immunohistochemistry as the reference technique, the accuracy of 99mTc-DPD scintigraphy for distinction of TTR-related and AL etiology was 100%. Cardiac 99mTc-DPD uptake was also absent among unaffected controls. Using echocardiography as the reference standard for recognition of cardiac involvement, sensitivity and specificity of scintigraphy were both 100% for group A patients; in group B, sensitivity was 0% and specificity was 100% (accuracy, 50%). Eleven patients with myocardial 99mTc-DPD uptake underwent 99mTc-methylene diphosphonate (99mTc-MDP) scintigraphy; all patients showed a 99mTc-MDP myocardial visual score of 0., Conclusions: Etiology is a third major cause--in addition to type of organ-involved (soft-tissue/heart) and tracer type--of scintigraphic variability in cardiac amyloidosis. This is a highly relevant consideration for future studies. We conclude that 99mTc-DPD scintigraphy is a useful step in the workup of the differential diagnosis of TTR versus AL etiology in patients with documented cardiac amyloidosis.

Background and Purpose: Emery-Dreifuss muscular dystrophy (EDMD) is a rare inherited disorder associated with cardiac involvement. We investigated the spectrum and relevance of the cardiac manifestations of EDMD, focusing on bradyarrhythmias and tachyarrhythmias (including atrial fibrillation/flutter), embolic stroke, and heart failure., Methods and Results: Eighteen patients (age 42.8+/-19.6 years) with genetically confirmed X-linked (n=10, including 3 carriers) or autosomal dominant (n=8) EDMD were followed for a period ranging from 1 to 30 years in a research center for neuromuscular diseases and in a university cardiological department. Pacemakers were required by 10 of 18 (56%) patients for bradyarrhythmia, and related complications occurred in 3 of 10 (30%) cases. Atrial fibrillation/flutter developed in 11 of 18 (61%) patients, with atrial standstill subsequently occurring in 5 of 11 (45%) cases and embolic stroke (most often disabling) in 4 of 11 (36%). Heart failure requiring transplantation occurred in 1 of 18 (6%) patients, and asymptomatic left ventricular dysfunction in a further 3 (17%). No relationship was evident between neuromuscular impairment and cardiac involvement., Conclusions: Both X-linked and autosomal dominant EDMD patients risk not only bradyarrhythmia (requiring pacemaker implant) but also atrial fibrillation/flutter, which often anticipates atrial standstill and can cause disabling embolic stroke at a relatively young age. Antithromboembolic prophylaxis has to be recommended in EDMD patients with atrial fibrillation/flutter or atrial standstill. With careful monitoring, survival after pacemaker implant may be long. Heart failure, which seems to occur only in a minority of patients, may be severe.

Cardiac abnormalities are frequently reported in patients with acquired immunodeficiency syndrome (AIDS). Much less is known about the true prevalence of cardiac involvement in patients with human immunodeficiency virus (HIV) infection. We prospectively examined 138 consecutive patients with HIV infection including 41 with AIDS, 49 with AIDS-related complex (ARC), 32 with chronic lymphoadenopathy syndrome (LAS) and 16 with asymptomatic HIV infection. Sixty-one patients had opportunistic infection. The prevalence of cardiac involvement progressively increased from patients with HIV infections or LAS (4%) to ARC (14%) to AIDS (37%). "Major" echocardiographic abnormalities (dilated cardiomyopathy and/or infective endocarditis and/or severe pericardial effusion) were identified in 3 patients (2%), "minor" abnormalities (mild pericardial effusion, hypokinesis of the interventricular septum, mild dilatation of the left ventricle in 21 (15%). Electrocardiographic abnormalities unassociated with echo abnormalities or clinical problems were seen in other 11 patients. End diastolic left ventricular dimension (normalized for body surface area) was higher among AIDS respect to pre-AIDS patients (30.1 +/- 7.1 vs 27.6 +/- 7.5; p less than 0.01) and among patients with respect to patients without opportunistic infections (29.5 +/- 6.5 vs 27.5 +/- 2.4; p less than 0.05). Left ventricular shortening fraction was lower in the subgroup with and absolute CD4 lymphocyte count less than 100/mm3 (31 +/- 7 vs 34 +/- 5; p less than 0.055). In conclusion, in a large, unselected group of patients with HIV infection, echocardiogram discloses cardiac abnormalities in 17% of the cases; their clinical relevance is generally low but in selected patients cardiac tamponade and/or dilated cardiomyopathy (secondary to viral myocarditis) may cause death.(ABSTRACT TRUNCATED AT 250 WORDS)