bluuebunny/crossref_metadata_2025_split huggingface dataset:
299 LEFT VENTRICULAR APICAL THROMBUS
Authors: Tansella Donatella , Rigato Ilaria , Marra Martina Perazzolo , Famoso Giulia 
Published: December 2022

Abstract
LV thrombus is a complication of AMI. It is estimated that 40-60% of patients with large anterior wall MI will develop a LV thrombus. The risk is highest during the first 3 months following AMI. Accurate and timely detection is important as it poses a high risk for thromboembolic events. Advances in technology have improved the detection rate of intracardiac thrombi, but several uncertainties still remain regarding the optimal treatment strategy within daily clinical practice. We report a case of large LV thrombus in a 61-year-old male with extensive anterior wall MI.
A 61-year-old man, hypertension, former smoker, subjected to epatic orthotopic transplant for HCC and treated with immunosuppressive therapy (Everolimus), following development of lymphocytic leukemia in fu. He underwent thoracic ct, wich showed a hypodense imaging in the left ventricular apex referable to thrombotic formation large 2cm, with endocardial rim hypointense like ischemic outcomes. The ECG demonstrated Q waves in anterior leads and biphasic T waves in the same leads. The patient was absolutely asyntomatic. A transthoracic echocardiography, showed the apical mass (2×0,9cm) very mobile and akinesia and thinning of the left ventricol middle-apical wall with apical aneurysmatic evolution. A CMR, confirmed the presence of the thrombus and showed defects at the subendocardial layer of the anterior wall and interventricular septal with also involvement of all the apex; the burden of late gadolinium enhancement (ischemic pattern) extended to the same segment. Coronary angiography showed subocclusion involving the second tract of the left anterior descending (99%) and critical coronary stenosis of the third tract of the right coronary (70%). The thrombus was completely removed surgically through left atriotomy, in prevention of embolization due to the thrombus dimension, the motility and the labile docking station. The histological examination confirmed the thrombotic nature of the mass. International guidelines agree on recommending anticoagulation therapy for patients affected by left ventricular thrombosis. OAC with vitamin K antagonists should be started as soon as LVT is identified, as first-line therapy and parenteral anticoagulation should be discontinued when effective therapeutic range with warfarin has been achieved (INR of 2–3). European and American guidelines stressing the efficacy of parenteral therapy with heparin; there are no randomized trials that have examined the efficacy of VKA anticoagulation compared with parenteral therapy. DOACs are attractive alternatives because of their potential efficacy and safety even though there is no trial that proves the effect of DOACs in LVT. Oral anticoagulation should be discontinued as soon as thrombus resolution has been established. Surgical removal of the LVT is an option for patients with high embolic risk, as in our patient. The high morbidity and mortality of this approach outweigh the benefits of performing surgery solely for the indication of LVT.
983 COMPARISON OF DEMOGRAPHIC, CLINICAL, BIOCHEMICAL AND IMAGING AND IMAGING FINDINGS IN HYPERTROPHIC CARDIOMYOPATHY PROGNOSIS: A NETWORK META-ANALYSES
Authors: Beltrami Matteo , Olivotto Iacopo , Figliozzi Stefano , Pateras Kostantinos , Niccoli Flavia , Bampatsias Dimitrios , Finocchiaro Gherardo , Chiribiri Amedeo , Masci Pier Giorgio , Georgiopoulos Georgios 
Published: December 2022

Abstract

Background
Despite hypertrophic cardiomyopathy (HCM) being the most common inherited heart disease and conferring increased risk for heart failure (HF) and sudden cardiac death (SCD), risk assessment in HCM patients is still largely unresolved.

Objective
To synthesize and compare the prognostic impact of demographic, clinical, biochemical, and imaging findings in patients with HCM.

Methods
We searched PubMed, Embase, and Cochrane Library for studies published from inception to November 2020, and the endpoints were: i) all-cause death; ii) an arrhythmic endpoint including SCD, sustained ventricular tachycardia, ventricular fibrillation, or aborted SCD; iii) a composite endpoint including i) or ii) plus hospitalization for HF or cardiac transplantation. We performed a pairwise meta-analysis obtaining the pooled estimate separately for the association between baseline variables and study endpoints. A random-effects network meta-analysis (NMA) was subsequently used to comparatively assess the prognostic value of outcome predictors.

Results
One-hundred-eleven studies with 56,792 HCM patients were included. Among others, increased BNP/NT-proBNP, late-gadolinium-enhancement (LGE), positive genotype, impaired global longitudinal strain and presence of apical aneurysm conferred increased risk for the composite endpoint. At NMA, LGE showed the highest prognostic value for all endpoints and was superior to all other predictors except NYHA class≥II. A multiparametric imaging-based model was superior in predicting the composite endpoint compared to a pre-specified model based on conventional risk factors.

Conclusions
This network meta-analysis supports the development of multiparametric risk prediction algorithms, including advanced imaging markers additively to conventional risk factors, for refined risk stratification in HCM.
153 CARDIAC METASTASES: WHEN YOU HEAR THE HOOFBEATS YOU SHOULD ALSO THINK ABOUT ZEBRAS
Authors: Boccadoro Alberto , Gibiino Federico , Scala Antonella , Vitali Francesco , Tonet Elisabetta , Campo Gianluca 
Published: December 2022

Abstract

Background
Cardiac metastases (CM) are rare findings and their diagnosis is often challenging due to the large panel of symptoms they can cause. CM are frequently clinically silent, and their diagnosis is frequently made post-mortem. Even in the rare cases in which they clinically manifest themselves, it's harsh to distinguish them from other (more common) cardiovascular conditions presenting with the same panel of symptoms. The diagnosis could be very challenging, in particular in subjects with occult primary neoplasm. Electrocardiogram, although not specific, is frequently abnormal and imaging tools play a key role in the diagnostic process.

Case Report
A 75-year-old man went to the emergency room for chest pain and fever. The pain differs from that experienced in previous myocardial infarction. Laboratory tests showed plateau rise in troponins and the electrocardiogram showed diffuse changes in depolarization and repolarization. Transthoracic echocardiographic assessment showed a non-dilated left ventricle (LV) with a huge thickening of the interventricular septum and of the LV apex. The inferior wall was akinetic and the ejection fraction of the left ventricle was 45%; diffuse pericardial effusion was also present. To characterize the nature of this finding, a chest CT scan an a Cardiac Magnetic Resonance were performed. The diagnosis of a cardiac metastasis and its occult primary lung cancer was then made.

Discussion
In this clinical case, metastases manifest themselves mimicking an acute coronary syndrome, albeit with atypical characteristics; the atypical symptoms and the instrumental findings made us hypothesize that we were not dealing with a myocardial infarction. The peculiarity of this clinical case lies in the fact that the onset of symptoms led to the diagnosis of the cardiac metastasis and, subsequently, of the occult primary lung tumor. Our case report warn us that, sometimes, when you hear the hoofbeats you should also have to think about zebras.
1152 INVESTIGATION ON THE HIGH INCIDENCE OF THE ATTRV-CAUSING TRANSTHYRETIN VARIANT VAL142ILE IN CENTRAL ITALY
Authors: Cappelli Francesco , Argiro´ Alessia , Zampieri Mattia , Giotti Irene , Boschi Beatrice , Frusconi Sabrina , Buxbaum Joel , Gennarelli Massimo , Polimanti Renato , Olivotto Iacopo , Perfetto Federico , Mazzarotto Francesco 
Published: December 2022

Abstract
The p.Val142Ile variant in transthyretin (encoded by the TTR gene) is the most common genetic cause of transthyretin-related amyloidosis. This allele is particularly prevalent in communities of African descent compared with populations of different ancestries, where its frequency is two orders of magnitude lower. For this reason, p.Val142Ile has always been considered an “African” variant, with limited studies performed on individuals of European descent. However, recent reports of higher-than-expected prevalence in European-ancestry populations question the African specificity of this allele. Here we show that the high recurrence of p.Val142Ile in central Italy is due to a founder effect and not to recent admixture from African populations, highlighting how this may be the case in other communities. This suggests a probable underestimate of the global prevalence of p.Val142Ile, and further emphasizes the importance of routine inclusion of TTR in gene panels used for clinical genetic testing in hypertrophic cardiomyopathy (independently of the patient's geographical origin), that transthyretin-related amyloidosis can mimic. Figure.Principal Component Analysis (PCA) of the 16 probands together with the 25044 individuals of the 1000 Genomes Project (Phase 3) having been genotyped both within the 1000 Genomes Project (NA10851_1KG) and in-house (NA10851_internal). The proband clustering within the smear of native Americans is A228.
1107 PLASMA CIRCULATING TRANSTHYRETIN FORMS IN PATIENTS WITH WILD TYPE TRANSTHYRETIN CARDIAC AMYLOIDOSIS
Authors: Castiglione Vincenzo , Sanguinetti Chiara , Panichella Giorgia , Minniti Marianna , Caponi Laura , Aimo Alberto , Paolicchi Aldo , Emdin Michele , Vergaro Giuseppe , Franzini Maria 
Published: December 2022

Abstract

Background and aims
Wild type transthyretin (TTR) cardiac amyloidosis (ATTRwt-CA) is caused by the misfolding, aggregation and tissue deposition of native TTR, leading to cardiac structural remodeling. In the last decade, the validation of non-invasive diagnostic approaches and the development of novel therapeutic options targeting the amyloidogenic cascade, such as the TTR stabilizer tafamidis, have dramatically changed the epidemiology and the prognosis of the disease. Nonetheless, the basic pathophysiological mechanisms underlying TTR misfolding and aggregation are still poorly understood. We aimed to characterize circulating TTR forms in plasma samples of ATTRwt-CA patients before and after treatment with tafamidis through a native electrophoretic method.

Methods
Plasma samples from 6 male patients with ATTRwt amyloidosis (median age 82 years, IQR 80-83), collected before (T0) and during tafamidis treatment, and from 6 healthy controls were collected. Plasma samples were separated on a native 4–20% Tris-Gly polyacrylamide gel. Western blot analysis was performed with anti-TTR or anti-retinol-binding protein (RBP) antibodies. Proteins were detected by Clarity ECL substrate.

Results
Circulating TTR forms were qualitatively similar between ATTRwt-CA patients at T0 and controls. In both groups, the most represented forms were TTR dimers or trimers (∼37-50 kDa), TTR tetramers complexed with RBP in 1:1 ratio (∼80 kDa) or 1:2 ratio (∼100 kDa), and high molecular weight (MW) aggregates (&gt;150 kDa). Neither TTR monomers nor tetramers could be detected. RBP protein was detectable in association with TTR tetramers and some of the higher MW fractions (∼150 kDa, &gt;250 kDa). Following tafamidis treatment, all ATTRwt-CA patients displayed a progressive increase of the intensity of the band corresponding to TTR-RBP complexes, in agreement with the a stabilizing action on TTR tetramers. Interestingly, dimers and trimers, detectable at T0, were progressively lost during tafamidis treatment.

Conclusions
TTR tetramer exists only complexed with RBP and in equilibrium with low and high MW forms, without apparent qualitative differences between ATTR-CA and healthy controls. Tafamidis increases circulating TTR tetramers complexed with RBP. Evaluation of TTR isoform may prove useful as a circulating biomarker for the assessment of response to treatment in patients with ATTRwt-CA.
62 MYOCARDIAL WORK IN CARDIAC AMYLOIDOSIS AND HYPERTENSIVE HEART DISEASE: A PRELIMINARY REPORT
Authors: Trimarchi Giancarlo , Campisi Mariapaola , Luongo Alfredo , De Sarro Rosalba , Poleggi Cristina , Lofrumento Francesca , Licordari Roberto , Mancinelli Anna , Dattilo Giuseppe , Recupero Antonino , Zito Concetta , Carerj Scipione , Di Bella Gianluca , De Gregorio Cesare 
Published: December 2022

Abstract

Objective
Assessment of myocardial work (MW) by pressure-strain loops is a recently introduced ultrasound-based technique allowing a noninvasive estimation of left ventricular (LV) myocardial performance, in a more precise fashion than ejection fraction (LVEF) and global longitudinal strain (GLS). Early studies have shown that MW clusters, such as efficiency (MWE), global wasted work (GWW), global constructive work (GCW) and myocardial work index (MWI) are likely to impair in most patients with hypertrophic heart. These markers can be predictive of myocardial dysfunction from the early stages of the disease and a trend towards fibrosis. To date, there are only scanty information about MW analysis in patients with heart failure (HF) and preserved/mildly reduced left ventricular ejection fraction (LVEF), as in those with cardiac transthyretin amyloidosis (ATTR). This pilot study aimed at evaluating differential MW features in aTTRCA vs hypertensive patients.

Methods
26 male patients, 13 affected by ATTR wild-type (mean aged 74±6 years) and 13 with hypertensive heart disease (HHD, mean aged 63±8 years), were investigated by transthoracic speckle-tracking strain ultrasound. Offline pressure-strain loop analysis was performed by a dedicated software. LV mass index (LVMI), LVEF, GLS, MWE, GWW, GCW and MWI were recognized.

Results
Main findings are reported in Table underneath, and the reference MW values provided by the European multi-centre NORRE study* are also displayed. As expected, ATTR patients showed greater LVMI and lower LVEF than those with HHD. MW indices were almost all impaired in ATTR patients, whereas they were in the lower range of normality in the HHD group. Noteworthy, all patients showed normal GWW values, indicative of a complex pathophysiology conveying different HF settings.

Conclusions
Findings from this hypothesis generating research indicate that MW is significantly impaired in ATTR compared to HHD patients, whose values, however, were in the low range of normality. Global wasted work was the sole marker to be normal in both groups, suggesting further studies still needed to shed lights on the intricate pathophysiology of myocardial function in cardiac amyloidosis.
183 GLOBAL LONGITUDINAL STRAIN BY SPECKLE TRACKING ECHOCARDIOGRAPHY IN SUBCLINICAL ORTHOTOPIC HEART TRANSPLANT REJECTION
Authors: Mancuso Filippo , Fontana Alessandra , Messina Margaret , Cipriani Manlio , De Gregorio Cesare 
Published: December 2022

Abstract

Objective
heart transplant (HT) patients need to be strictly monitored, especially within the first months after surgery by advanced and sensitive techniques, in order to rule out possible acute or subacute cellular rejection (CR) and hinder poor outcomes. This includes frequently repeated endomyocardial biopsy (EMB) and biomarkers. Echocardiography has emerged as an easily available and powered technique able to detect morphofunctional changes in various clinical settings. More recently, speckle tracking ultrasound and left ventricular (LV) strain have been documented as more accurate tools for detecting early myocardial dysfunction in most cardiac diseases. This study aimed at recognizing whether strain echocardiography can improve early diagnosis of subclinical CR.

Methods
We studied 32 patients, mean aged 52±4 years, who had undergone heart transplantation over the last 3 years at IRCCS ISMETT-UPMC (Palermo, Italy). They were scheduled for EMBs on a regular basis, and multisite biopsy specimens served to make diagnosis of CR. Conventional and advanced ultrasound measurements were performed on the same day of EMB. LV ejection fraction (LVEF) was assessed by using the Simpson rule biplane method and global longitudinal strain (GLS) by speckle tracking. Diastolic function was achieved by PW-Doppler/TDI sampling, as the E/E’ ratio. Echocardiographic findings were also related to anti-HLA antibodies (HAb).

Results
Multiple EMBs and ultrasound studies were performed in each patient. Echocardiographic findings from those likely to be healthy (CR- group) or with possible CR (CR+ group) are summarized in Table underneath (numbers are the average values of the various appraisals). Overall, 300 EMBs were negative (score 0-1) and 94 were positive (score 2-3). Global longitudinal strain and E/E’ ratio were significantly impaired in the first group, despite preserved LVEF. Tacrolimus therapeutic levels were similar between the groups, whereas a higher title of HAb was recognized in the CR+ group (13.3% vs 10.8%, p=0.012).

Conclusions
Cardiac ultrasound was confirmed to be a useful technique for monitoring HT patients over time. In those likely to have CR as by EMB specimens and HAb title, GLS and diastolic indices were significantly impaired irrespective of LVEF, suggesting speckle tracking echocardiography as a choice modality for detecting subclinical LV dysfunction in patients at risk of CR.
433 A PRO-ARRHYTHMIC DOUBLE HIT
Authors: Graziano Francesca , Brunetti Giulia , Cipriani Alberto , Cecere Annagrazia , Bauce Barbara , Rigato Ilaria , Basso Cristina , Pilichou Kalliopi , Iliceto Sabino , Corrado Domenico , Marra Martina Perazzolo , Zorzi Alessandro 
Published: December 2022

Abstract
A 42-year-old man went to the emergency room complaining about dyspnea and palpitations. He reported an episode of atrial fibrillation (AF) with symptoms of dizziness 8 years before. He had a family history of ischemic cardiopathy, his father has suffered from AF since a young age.Acute course: The ECG revealed AF at high ventricular frequency. The echocardiography demonstrated mild reduction of the left ventricular function (EF 45%) with diffuse hypokinesis, and mitral valve prolapse (MVP) with mild mitral regurgitation. The blood tests showed a troponin peak of 750 ng/L (n.v. 0–34 ng/L). The suspect was acute coronary syndrome. Thus, he was treated with dual antiplatet therapy and low doses of beta-blockers, and he underwent coronarography, which demonstrated no significant lesions. So, after a transesophageal echocardiography that excluded thrombosis, and a loading dose of amiodarone, a successful electrical cardioversion was performed. The discharge diagnosis was AF with mild left ventricular disfunction. Three months later: He came back to the emergency room because of suffering some days of progressive epigastric and retrosternal pain radiating to the shoulders. The ECG and the echocardiography were unchanged, the troponin-I values were 79 ng/L-74 ng/L. Therefore, he underwent cardiac magnetic resonance (CMR), which showed normal biventricular dimensions and function (LVEF 64%, LVEDV 80 ml/mq), MVP with mitral annular disjunction (MAD) and curling of the infero-lateral basal wall (Figure A). The native T1, T2 and ECV values were increased, and there was a wide left ventricular subepicardial late gadolinium enhancement (LGE). The conclusion was MVP and active myocarditis. Moreover, he underwent endomyocardial biopsy that revealed focal lymphocytic infiltration, PCRs for common cardiotropic viruses or bacteria were negative. Six months later: The basal ECG was characterized by low QRS voltages in limb leads (Figure B). The CMR revealed a wide left ventricular non-ischemic fibrosis with a ring-like pattern (Figure C). The 24-hours Holter ECG showed premature ventricular beats with a right bundle branch block/superior and inferior axis morphology (Figure D), in keeping with MVP. The next step was the genetic testing that resulted positive for a Filamin-C (FLNC) mutation associated with cardiomyopathy. The final diagnosis was “Hot-phase of Left Ventricular Arrhythmogenic Cardiomyopathy (ACM), MVP and paroxysmal AF”. Discussion: The ACM is a rare hereditary heart muscle disease, and the “hot phase” represents its uncommon clinical presentation. Mutations in FLNC gene could be involved in the pathogenesis of ACM. Moreover, there are few cases in literature about the correlation between FLNC mutations and MVP. FLNC mutation may be a cross-sectional substrate for both these pro-arrhythmic conditions.
207 RE-DEFINING ARRHYTHMOGENIC CARDIOMYOPATHY: CHARACTERIZATION AND LONG-TERM PROGNOSTIC IMPLICATIONS
Authors: Setti Martina , Merlo Marco , Gigli Marta , Munaretto Laura , Paldino Alessia , Stolfo Davide , Loco Carola Pio , Medo Kristen , Barbati Giulia , Graw Sharon , Ribichini Flavio Luciano , Ferro Matteo Dal , Taylor Matthew , Sinagra Gianfranco , Mestroni Luisa 
Published: December 2022

Abstract

Background
Arrhythmogenic dilated cardiomyopathy (AR-DCM) combines phenotypical aspects of dilated cardiomyopathy (DCM) and risk of sudden cardiac death (SCD), typical of the arrhythmogenic form (ACM). However, AR-DCM is often ambiguously defined leaving clinicians uncertain on how to identify these high-risk patients.
The aims of the study were to re-define AR-DCM based on outcome related arrhythmic markers and to test the usefulness of the novel AR-DCM definition in identifying arrhythmogenic genotypes (i.e., LMNA, FLNC, RBM20, and desmosomal genes).

Materials and methods
Consecutive DCM patients with genetic evaluation and Holter ECG monitoring or telemetry in two referral institution were analyzed. The arrhythmic markers tested to define AR-DCM were: SCD or major ventricular arrhythmias (MVA), unexplained syncope, rapid nonsustained ventricular tachycardia (nsTV), ≥1000 premature ventricular contractions/24 hours, or ≥50 ventricular couplets/24 hours. Patients were labeled as Early AR-DCM if criteria were met within 12 months from enrolment. The primary endpoint was a composite of SCD/MVA; the secondary endpoint was a composite of all-cause mortality/heart transplant/LVAD implantation (D/HTx/LVAD).

Results
Among the 743 DCM patients included, 290 had disease-related variants (39%), 94 (30%) of these carried arrhythmogenic genotype. Early AR-DCM was identified in 429 (58%) patients. During a median follow-up of 7.0 [2.2-13.8] years, among arrhythmic markers the occurrence of syncope and/or nsVT within 12 months from enrolment were the only arrhythmic markers independently associated with SCD/MVA (Figure), while the occurrence of early MVA and/or nsTV emerged as the strongest long-term predictors of D/ HTx/LVAD. Family history of MVA was also independently associated with primary and secondary endpoints, and together with MVA, nsTV or unexplained syncope increased the agreement between AR-DCM and arrhythmogenic genotypes in 1 out 2 patients.

Conclusions
A combination of early (i.e., within 1 year from diagnosis) MVA or nsVT or unexplained syncope might be proposed as a clinically useful new definition of AR-DCM, especially if associated to family history of MVA. This definition in fact allows clinicians to anticipates worse long-term arrhythmic and global outcomes, and to accurately identify malignant arrhythmogenic genotypes.