Publications by authors named "Monica DE Gaspari"

Article Synopsis
  • The discovery of hypertrophic cardiomyopathy (HCM) began in 1958 when Donald Teare noted cases of asymmetric ventricular septum hypertrophy during autopsies, linking sudden deaths to this condition.
  • The term "idiopathic hypertrophic subaortic stenosis" emerged in the late 1950s and highlighted the confusion between HCM and valve-related issues, as seen in cases managed by Eugene Braunwald and Andrew Glenn Morrow.
  • Over the decades, HCM has been classified and better understood, evolving from early notions of "functional subaortic stenosis" to a formal classification of cardiomyopathies established by John F. Goodwin and refined by the WHO, recognizing familial links and new types
View Article and Find Full Text PDF
Article Synopsis
  • Coronary artery vasculitis is a rare illness that mainly affects the heart's blood vessels and can happen because of conditions like Kawasaki Disease.
  • A 6-year-old boy with cancer died suddenly because of a blood clot in his heart caused by this vasculitis, likely linked to Kawasaki Disease.
  • Researchers are studying the features of Kawasaki Disease by looking at many studies from the past to learn more about how it affects people of all ages.
View Article and Find Full Text PDF

Arrhythmogenic cardiomyopathy (AC) is a hereditary cardiac disorder characterized by the gradual replacement of cardiomyocytes with fibrous and adipose tissue, leading to ventricular wall thinning, chamber dilation, arrhythmias, and sudden cardiac death. Despite advances in treatment, disease management remains challenging. Animal models, particularly mice and zebrafish, have become invaluable tools for understanding AC's pathophysiology and testing potential therapies.

View Article and Find Full Text PDF

The role of the immune system in myocarditis onset and progression involves a range of complex cellular and molecular pathways. Both innate and adaptive immunity contribute to myocarditis pathogenesis, regardless of its infectious or non-infectious nature and across different histological and clinical subtypes. The heterogeneity of myocarditis etiologies and molecular effectors is one of the determinants of its clinical variability, manifesting as a spectrum of disease phenotype and progression.

View Article and Find Full Text PDF
Article Synopsis
  • Arrhythmogenic cardiomyopathy (ACM) is a genetic heart condition that can lead to sudden death, and understanding its genetic factors is crucial for their diagnosis.
  • A study of 320 ACM patients in Italy identified 35 rare genetic variants, mainly in non-desmosomal genes, with significant findings in the filamin C (FLNC) gene specifically, which accounted for over two-thirds of pathogenic variants.
  • The results suggest that while these non-desmosomal variants are present in some ARVC patients, they are more prevalent in ALVC patients, indicating that clinical decisions should prioritize genes with strong supporting evidence.
View Article and Find Full Text PDF

Vasculitides are diseases that can affect any vessel. When cardiac or aortic involvement is present, the prognosis can worsen significantly. Pathological assessment often plays a key role in reaching a definite diagnosis of cardiac or aortic vasculitis, particularly when the clinical evidence of a systemic inflammatory disease is missing.

View Article and Find Full Text PDF

Aims: Standardized immunosuppressive therapy (IS) had been previously investigated in biopsy-proven (BP) lymphocytic myocarditis with heart failure (HF). This study evaluated efficacy and safety of tailored IS in BP immune-mediated myocarditis, irrespective of histology and clinical presentation.

Methods And Results: Consecutive BP myocarditis patients treated with long-term tailored IS on top of optimal medical therapy (OMT), were compared with OMT non-IS controls using propensity-score weighting.

View Article and Find Full Text PDF

: Cardiovascular magnetic resonance (CMR) has emerged as the most accurate, non-invasive method to support the diagnosis of clinically suspected myocarditis and as a risk-stratification tool in patients with cardiomyopathies. We aim to assess the diagnostic and prognostic role of CMR at diagnosis in patients with myocarditis. We enrolled consecutive single-center patients with 2013 ESC consensus-based endomyocardial biopsy (EMB)-proven or clinically suspected myocarditis undergoing CMR at diagnosis.

View Article and Find Full Text PDF
Article Synopsis
  • The study examined the incidence of sports-related sudden cardiac arrest and death (SCA/D) in children aged 8-15 and the potential benefits of cardiovascular preparticipation screening (PPS) over a 10-year period in Italy.
  • It found that both athletes and non-athletes had a similar incidence of SCA/D, with higher rates occurring in children aged 12 years and older and highlighted that PPS identified a small number of cardiovascular diseases at risk for SCA/D.
  • The findings suggest that systematic cardiovascular screenings may be more beneficial for children aged 12 and older to help better identify those at risk for these serious events.
View Article and Find Full Text PDF

Aims: Clinical features and risk stratification of patients with viral myocarditis (VM) complicated by ventricular arrhythmias (VA) are incompletely understood. We aim to describe arrhythmia patterns and outcomes in patients with VM and early-onset VA.

Methods And Results: We present a single-centre study, enrolling patients with VM proven by endomyocardial biopsy, and evidence of VA within 24 h of hospitalization.

View Article and Find Full Text PDF

Primary malignant cardiac tumors are rare and usually misdiagnosed because they can mimic more common intracardiac lesions, therefore, in clinical practice it is important to always consider even uncommon diseases in order to avoid delayed diagnosis and to plan the most appropriate therapeutic strategy in a timely fashion. We report a case of a 73-year-old man with clinical signs and imaging findings (echocardiography) suggesting infective bacterial endocarditis of the mitral valve. However, intraoperative evaluation raised suspicion that the mitral lesions had a different nature.

View Article and Find Full Text PDF

Background: Cardiac amyloidoses (CAs) are an increasingly recognised group of infiltrative cardiomyopathies associated with high risk of adverse cardiac events. We sought to characterise the characteristics and clinical value of right ventricular (RV) electroanatomic voltage mapping (EVM) in CA.

Methods: Fifteen consecutive patients undergoing endomyocardial biopsy (EMB) for suspected CA (median age 75 years, 1st-3rd quartiles 64-78 years], 67% male) were enrolled in an observational prospective study.

View Article and Find Full Text PDF

Giant cell arteritis (GCA) is the most common systemic vasculitis in adults in Europe and North America, typically involving the extra-cranial branches of the carotid arteries and the thoracic aorta. Despite advances in noninvasive imaging, temporal artery biopsy (TAB) remains the gold standard for establishing a GCA diagnosis. The processing of TAB depends largely on individual institutional protocol, and the interpretation and reporting practices vary among pathologists.

View Article and Find Full Text PDF

The authors present a clinical report focused on the overlap between myocarditis and genetic cardiomyopathies of the dilated and arrhythmogenic spectrum. Our cohort was composed of 25 patients undergoing extensive baseline characterization and prospective reassessment by a dedicated multidisciplinary disease unit during a median follow-up of 69 months. We showed that the use of multimodal imaging allowed both discrimination of specific genotypes and identification of myocardial inflammation proven using endomyocardial biopsy.

View Article and Find Full Text PDF

Background: Chest pain is experienced by patients with cardiac amyloidosis (CA), but a systematic investigation of its frequency, underlying etiologies and clinical significance is lacking.

Methods: Clinical, echocardiographic, laboratory characteristics, available coronary arteries imaging and endomyocardial biopsy (EMB) findings of 174 patients with CA (n = 104 with transthyretin, ATTR; n = 70 with light chains, AL) were analyzed.

Results: Chest pain was reported in 66 (38%) CA patients.

View Article and Find Full Text PDF

Cardiac amyloidosis (CA) is an uncommon, progressive, and fatal disease; the two main forms that can affect the heart are transthyretin CA and light chain CA (AL-CA). AL-CA is a medical urgency for which a diagnostic delay can be catastrophic for patients' outcome. In this manuscript, we focus on the pearls and pitfalls that are relevant to achieve a correct diagnosis and to avoid diagnostic and therapeutical delays.

View Article and Find Full Text PDF

Hypertrophic cardiomyopathy (HCM) is an inherited myocardial disease at risk of sudden cardiac death and heart failure, even requiring heart transplantation. A "muscular mitral-aortic discontinuity" has been reported during surgery in the obstructive form. We aimed to validate these findings through pathological analysis of HCM heart specimens from the cardiovascular pathology tissue registry.

View Article and Find Full Text PDF

Aims: We assessed the feasibility of cardiac magnetic resonance (CMR) and the role of myocardial strain in the diagnostic work-up of patients with acute myocardial infarction (AMI) and a clinical suspicion of cardiac rupture (CR).

Methods And Results: Consecutive patients with AMI complicated by CR who underwent CMR were enrolled. Traditional and strain CMR findings were evaluated; new parameters indicating the relative wall stress between AMI and adjacent segments, named wall stress index (WSI) and WSI ratio, were analysed.

View Article and Find Full Text PDF

Aims: Myocardial longitudinal strain (LS) by two-dimensional (2D) speckle-tracking echocardiography has a diagnostic and prognostic role in cardiac amyloidosis (CA). Typically, the apical segments of the left ventricle (LV) are less affected by LS abnormalities, a finding called relative apical sparing (RELAPS). Whether a variable burden of CA might explain the RELAPS remains unknown.

View Article and Find Full Text PDF

Sudden cardiac death (SCD) pathophysiological point of view can be either mechanical or electrical. In case of mechanical SCD, the most frequent causes are pulmonary thromboembolism and cardiac tamponade due to intrapericardial rupture (aortic dissection, heart rupture). This distinction is important because cardiac arrest retains survival potential through cardiopulmonary resuscitation and defibrillators only if the rhythm is shockable.

View Article and Find Full Text PDF

Cardiomyopathies (CMP) comprise a heterogenous group of diseases affecting primarily the myocardium, either genetic and/or acquired in origin. While many classification systems have been proposed in the clinical setting, there is no internationally agreed pathological consensus concerning the diagnostic approach to inherited CMP at autopsy. A document on autopsy diagnosis of CMP is needed because the complexity of the pathologic backgrounds requires proper insight and expertise.

View Article and Find Full Text PDF