bluuebunny/crossref_metadata_2025_split huggingface dataset:
The late-onset dilated cardiomyopathy
Authors: Cannata A , Merlo M , Manca P , Dal Ferro M , Paldino A , Artico J , Gentile P , Jirikowic J , Todd E , Salcedo E , Graw S , McDonagh T , Taylor M , Mestroni L , Sinagra G 
Published: November 2020

Abstract

Background
Dilated Cardiomyopathy (DCM) represents a specific subgroup of non-ischemic cardiomyopathies. Little is known about the genotypic characterization of dilated cardiomyopathy (DCM) patients diagnosed over 60 years of age.

Aim
To investigate prevalence, characterization and prognostic impact of the genetic background of late-onset DCM patients.

Methods
We analyzed a study population of 566 DCM patients from two international referral centers. Genetic background was analyzed and patients were grouped into typical-onset DCM (&lt;60 years of age at diagnosis) or late-onset DCM (&gt;60 years of age at diagnosis).

Results
Approximately 12% of patients (n=70) had late-onset DCM and female sex was significantly more frequent in the late-onset DCM cohort (p&lt;0.001). Diagnostic yield of genetic testing was comparable between typical- and late-onset DCM (53% vs 50%, respectively p=0.438) whereas the prevalence of Titin gene truncation variants (TTNtv) was higher in the late-onset DCM group compared to the younger cohort (23% vs 13% respectively; p&lt;0.05). Notably, patients with late-onset genetic DCM had comparable long-term outcomes to those with typical-onset DCM.

Conclusions
Late-onset DCM patients have nearly double the rate of TTNtv mutations and are more likely to be female compared to younger DCM patients. These observed differences in mutational makeup and sex may reveal insights into age and sex dependent mechanisms for TTNtv and should prompt further study. Notably, the increased prevalence of TTNtv and female sex did not translate into noticeable differences in rates of measurable cardiac events.

Funding Acknowledgement
Type of funding source: None
Myocarditis and arrhythmogenic right ventricular cardiomyopathy: a diagnostic challenge
Authors: Bergonti M , Dello Russo A , Catto V , Gasperetti A , Sicuso R , Vettor G , Ribatti V , Tundo F , Moltrasio M , Sommariva E , Andreini D , Basso C , Natale A , Tondo C , Casella M 
Published: November 2020

Abstract

Background
Current arrhythmogenic right ventricular cardiomyopathy (ARVC) diagnostic criteria are mostly based on ventricle function and dimension. Previous studies have reported a significant overlap between ARVC and chronic myocarditis, at non-invasive assessment.

Purpose
Tto compare biopsy-proven ARVC and myocarditis patients, in order to identify clinical, imaging and invasive electroanatomic voltage mapping (EVM) differences between the two groups.

Methods
Patients with borderline diagnosis of ARVC or suspected myocarditis underwent compete assessment with cardiac magnetic resonance (CMR). All patients underwent endomyocardial biopsy (EMB) with targeted tissue sampling guided by EVM. All patients with an histological diagnosis of myocarditis or ARVC were included.

Results
83 patients were included, divided into 35 (42.2%) ARVC and 48 (57.8%) myocarditis. Among ARVC patients, 25 (71.4%) had right dominant ARVC, 5 (14.3%) left dominant patter and 5 (14.3%) bi-ventricular involvement. Nine patients (23.1%) with suspected clinic diagnosis of ARVC before EMB, received and histological diagnosis of myocarditis. Two (5.7%) patients with suspected myocarditis were proven to have ARVC. When comparing patients with ARVC and patients with myocarditis, univariate analysis showed that age, sex, family history, arrhythmic disorders at presentation and ECG abnormalities were similar between the two groups (P&gt;0.05 for all the variables). There was also no significant difference with regards to bi-ventricular function and dimension at CMR evaluation. More patients with myocarditis resulted positive at late gadolinium enhancement (LGE) evaluation, although non-significantly (P=0.082). Oedema was more frequently present in patients with myocarditis (P=0.01), while adipose tissue infiltration and segmental wall motion abnormalities were more often observed in patients with ARVC (P=0.002 and P&lt;0.001 respectively). At EVM analysis, a significant greater number of patients had a pathological uni- and bi-polar EVM (P&lt;0.05 in all cases) and the scar-area was greater in patients with ARVC: 18.8 vs 11.0 cmq (P=0.041).

Conclusion(s)
A significant number of patients who received a clinical diagnosis of Myocarditis or ARVC according to current guidelines, were subsequently reclassified after histological analysis. Patients with ARVC and myocarditis were not distinguishable on the basis of clinical features and ventricular function and dimensions. Conversely, tissue analysis with CMR demonstrated how patient with ARVC had less oedema, more adipose tissue infiltration and had more extensive scar at EVM evaluation.

Funding Acknowledgement
Type of funding source: None
The myocardial phenotype of Fabry disease pre-hypertrophy and pre-detectable storage
Authors: Bicho Augusto J.A , Johner N , Shah D , Nordin S , Knott K , Lau C , Alfarih M , Seraphim A , Vijapurapu R , Ramaswami U , Steeds R , Kozor R , Hughes D , Moon J , Namdar M 
Published: November 2020

Abstract

Background
Cardiac involvement in Fabry Disease (FD) occurs prior to left ventricular hypertrophy (LVH) and is characterized by low myocardial native T1 with storage reflected by cardiovascular magnetic resonance (CMR) and ECG changes.

Objectives
We hypothesize that a pre-storage myocardial phenotype might occur even earlier, prior to T1 lowering.

Methods
FD patients and age, sex and heart rate matched healthy controls underwent same-day ECG with advanced analysis and multiparametric CMR (cines, global longitudinal strain [GLS], T1 and T2 mapping, stress perfusion [myocardial blood flow, MBF] and late gadolinium enhancement [LGE]).

Results
114 Fabry patients (46±13 years, 61% female) and 76 controls (49±15 years, 50% female) were included. In pre-LVH FD (n=72, 63%), a low T1 (n=32/72, 44%) was associated with a constellation of ECG and functional abnormalities compared to normal T1 FD patients and controls. However, pre-LVH FD with normal T1 (n=40/72, 56%) also had abnormalities compared to controls: reduced GLS (−18±2 vs −20±2%, P&lt;0.001), microvascular changes (lower MBF 2.5±0.7 vs 3.0±0.8mL/g/min, P=0.028), subtle T2 elevation (50±4 vs 48±2ms, p=0.027) and limited LGE (%LGE 0.3±1.1 vs 0%, P=0.004). ECG abnormalities included shorter P wave duration (88±12 vs 94±15ms, P=0.010) and T wave peak time (Tonset–Tpeak; 104±28 vs 115±20ms, P=0.015), resulting in a more symmetric T wave with lower T wave time ratio (Tonset–Tpeak)/(Tpeak–Tend) (1.5±0.4 vs 1.8±0.4, P&lt;0.001) compared to controls.

Conclusions
FD has a measurable myocardial phenotype pre-LVH and pre-detectable myocyte storage with microvascular dysfunction, subtly impaired GLS and altered atrial depolarization and ventricular repolarization intervals.
Proposed stages of cardiac involvement

Funding Acknowledgement
Type of funding source: None
Electrocardiographic differences between Anderson-Fabry and sarcomeric hypertrophic cardiomyopathy and correlation with cardiac magnetic resonance
Authors: Vitale G , Di Nicola F , Tanini I , Camporeale A , Graziani F , Ditaranto R , Zanoni R , Ferrara V , Lombardi M , Olivotto I , Rapezzi C , Galie N , Biagini E 
Published: November 2020

Abstract

Background
Differential diagnosis between Anderson-Fabry (AF) and sarcomeric hypertrophic cardiomyopathy (HCM) is often very challenging particularly in AF patients with late onset cardiac involvement.

Purpose
To gain new insights from standard electrocardiogram (ECG) in AF disease for differential diagnosis from sarcomeric HCM. Additionally, to better understand ECG features in AF patients, a correlation substudy ECG-cardiac magnetic resonance (CMR) has been performed.

Methods
From 162 patients with definite diagnosis of AF disease, 111 [65 males, median age 57 (51–67) years] with pathologic left ventricular hypertrophy (LVH) (Group A) were compared with 111 sarcomeric HCM patients (Group B) sex, age and maximal wall thickness matched by 1:1 propensity score.

Results
AF patients showed shorter PR interval [155 (140–180) vs 163 (149–184) msec; p=0.005) and wider QRS interval [110 (100–134) vs 100 (90–106) msec; p&lt;0.0001). Additionally AF patients had a higher prevalence of complete (22% vs 3%; p&lt;0.0001) and incomplete (13% vs 1%; p&lt;0.0001) right bundle branch block (RBBB) and a higher percentage of ST segment depression (12% vs 1%; p=0.001) and inferior negative T waves (34% vs 19%; p=0.01). No differences in terms of Sokolow-Lyon and Cornell scores were found whereas total QRS score was higher in Group A [20 (16–27) vs 18 [14–22] mV; p=0.0004). Low QRS voltages and inferior Q waves were not present in AF patients. Among the 69 AF patients who underwent MRI, the 44 with late gadolinium enhancement (LGE) were older [59 (52–66) vs 53 (40–59) years; p=0.017] and had more frequently negative T waves on ECG, particularly in the inferior leads (64% vs 8%; p&lt;0.0001), compared to the 25 without LGE. At multivariate analysis, age and negative T waves were independently associated to the presence of LGE on CMR.

Conclusions
Compared to matched sarcomeric HCM, AF patients had a shorter PR, wider QRS and a higher percentage of RBBB in relation to to the different aetiology (storage vs “pure” hypertrophy). The higher total QRS score and the absence of inferior Q waves could reflect the more frequent concentric distribution of LVH. Additionally negative T waves, especially in inferior leads, are related to the presence of LGE on CMR (often in the postero-lateral wall).

Funding Acknowledgement
Type of funding source: None
Differences of ST level at J-point on 12-lead electrocardiography can distinguish takotsubo syndrome and acute anterior myocardial infarction
Authors: Shimizu M , Cho S , Hara K , Ohmori M , Kaneda T , Tateishi R , Yamakami Y , Shimada H , Manno T , Isshiki A , Kimura S , Fujii H , Suzuki M , Nishizaki M , Sasano T 
Published: November 2020

Abstract

Background
Qualitative difference of ST elevation/depression on 12-leads electrocardiography (ECG) at onset was reported in patients with Takotsubo syndrome (TTS) and acute anterior myocardial infarction (ant AMI). However, quantitative difference of those was not elucidated.

Purpose
To investigate differences of ST level at J point on ECG between TTS and ant AMI by automated calculating system.

Methods
We firstly enrolled consecutive 40 patients of TTS, and among 500 ant AMI patients, one to two random matching was done by their age and gender. Finally, 40+80 patients (74.5±11.2 years, 87 females) were enrolled. ECG at onset of both group was measured by automated system (ECAPs12c: Nihon-Koden).

Results
ST level of TTS at J-point in I/II/V4–6 lead was significantly elevated comparing to that of ant AMI. Conversely, Conversely, significant ST depression in aVR and no ST elevation in V1 of TTS was observed in TTS. Logistic regression analysis revealed that ST elevation in I lead and no ST elevation in V1 lead showed high odds ratio and low P value.

Conclusion
Automated measured ST level at J-point was a powerful tool to distinguish TTS and ant AMI at onset.

Funding Acknowledgement
Type of funding source: None
Prognostic value of acute mitral insufficiency among patients admitted with Takotsubo syndrome. Preliminary data from a prospective multicenter registry
Authors: Mallardi A , Santoro F , Leopizzi A , Vitale E , Zimotti T , Ieva R , Caldarola P , Iacoviello M , Cannone M , Brunetti N.D 
Published: November 2020

Abstract

Background
Takotsubo syndrome (TTS) is an acute and reversible left ventricular dysfunction, whose pathophysiological mechanisms are not completely known. Aim of the study is to evaluate the incidence and prognostic value of acute mitral insufficiency among TTS patients.

Methods
Three hundred sixteen consecutive patients admitted for TTS were enrolled from July 2007 to December 2019 in a prospective registry among four hospitals. Clinical features, laboratory data, ECG and echocardiographic parameters and in-hospital complications were recorded.

Results
Eighty-five (27%) patients, mean age 76±8 years, presented with moderate/severe mitral insufficiency (msMI). Compared to the control group, patients that presented with msMI were older (76±8 vs 71±12 years, p&lt;0.01), had lower LVEF (34±7% vs 37±9% p=0.02) and experienced higher rate of in-hospital complications (42 vs 32% p=0.04).
The incidence of in-hospital adverse events was higher in case of both msMI and LVEF &lt;35% than in one of the two previous conditions or neither (69%, 42%, 23% respectively, p&lt;0.05). Differences remained statistically significant even after correction for age and gender in the multivariate analysis.
There was a reduction of mitral insufficiency from moderate/severe into mild in 30 out of 87 (34%) pts after 48h from admission and in 52 out of 87 pts at discharge (60%).
Left ventricular outflow tract obstruction (LVOTO) was found in 13 out of 87 (15%) pts with msMI at admission and was transient in 11 out of 13 pts (84%).
At long term follow up (650 days) patients with msIM when compared to those without, experienced higher rate of mayor cardiovascular events (31.7% vs 20% p=0.03).

Conclusions
Patients with TTS and moderate/severe mitral insufficiency at admission have an increased risk of in and out-of hospital mayor cardiac adverse events.

Funding Acknowledgement
Type of funding source: None
Acute pericarditis: who should stay and who should go?
Authors: Ferreira J , Luis M , Baptista R , Monteiro S , Goncalves L 
Published: November 2020

Abstract

Background
The European Society of Cardiology (ESC) guidelines for the diagnosis and management of pericardial diseases identify predictive factors of poor prognosis and advise either in favour or against hospitalisation accordingly. Our aim is to evaluate the adequacy of hospitalisation criteria in a cohort of patients presenting to the emergency department (ED) with acute pericarditis.

Methods
Retrospective analysis of patients admitted in ED with acute pericarditis, from 2009 to 2019. All patients were evaluated by a cardiologist during ED stay who decided if the patient was to be discharged or hospitalized. Hospitalized and discharged patients were compared regarding primary outcome, defined by a composite of: need for pericardiocentesis and/or cardiac surgery, pericarditis recurrence and all-cause death. Clinical decision was then counterpoised with ESC guidelines.

Results
A total of 192 patients were included in the analysis (aged 46±18.5 years-old, 83.3% male) of which 87 (45.5%) were hospitalized. A total of 25% registered the primary outcome, mainly due to acute pericarditis recurrence, occurring in 21.9%. Predictors of recurrence were: glucocorticoid therapy (OR=11.93, 95% CI 3.13–45.5, p&lt;0.001), fever at admission (OR=2.67, 95% CI 1.29–5.49, p=0.008), immunosuppression (OR=4.03, 95% CI 1.280–12.659, p=0.017) and increased cardiothoracic index (OR 3.85, CI 95% 1.67–8.86, p=0.002). Regarding hospitalisation/discharge decision, the ESC guidelines were respected in 72.9% of the cases. However, no significant difference in primary outcome was noted whether the ESC guidelines were respected or not (27.5% vs. 24.3%, p=0.707).

Conclusions
Discrepancy between current guidelines and clinical decision did not translate into a different outcome.

Funding Acknowledgement
Type of funding source: None
Analysis of risk factors associated with recurrence of acute pericarditis in patients diagnosed in the emergency room
Authors: Izquierdo Ribas M , Martinez-Nadal G , Cepas P , Aldea A , Matas A , Lopez-Sobrino T , Lopez-Barbeito B , Andrea R , Miro O 
Published: November 2020

Abstract

Background
Around 5% of patients consulting to the emergency room (ER) for non-ischemic thoracic pain are diagnosed of acute pericarditis (AP). The good prognosis of this pathology is well known, with a mortality of 1% and a low incidence of serious complications, which has led the research to focus on recurrences. Female sex, corticoid treatment and treatment adherence are related with higher risk of recurrence. Colchicine has been associated with less recurrences.

Purpose
To analyse the factors associated with recurrence after the diagnosis of AP in the ER of a third-level hospital.

Methods
Retrospective review of ER consultations oriented as AP, prospectively documented during 10 years (2008–2018). In 2019, a follow up was done in order to identify the recurrences and to search for associated factors (univariate and multivariate analysis).

Results
610 patients were diagnosed of AP, 175 (29%) recurrences were documented. Factors associated with an increased risk of recurrence were: previous AP, immunosuppression or history of autoimmune disease, fever or increased acute-phase reactants (CRP; ESR), hospitalization and corticoid treatment. Factors associated with less risk of recurrence were: age, non-steroidal anti-inflammatory drug (NSAID) treatment and idiopatic/viral etiology. No association with sex or colchicine treatment was identified. Multivariate analysis identified 3 factors that were independently associated with the risk of recurrence in a direct way: previous history of AP, [OR (IC95%): 2.09 (1.11–3.92)]; increased CRP [OR (IC95%): 1.09 (1.03–1.15)]; hospitalization [OR (IC95%): 2.65 (1.07–6.58)]. 2 factors were inversely associated with the risk of recurrence: age [OR (IC95%): 0.98 (0.96–0.99)]; NSAID treatment [OR (IC95%): 0.56 (0.32–0.97)].

Conclusions
29% of the patients were readmitted to the ER for an AP recurrence. Previous AP, increased CRP and the need of hospitalization were associated with a higher risk of recurrence. Age and NSAID treatment, on the other hand, were associated with less risk of recurrence.

Funding Acknowledgement
Type of funding source: Private grant(s) and/or Sponsorship. Main funding source(s): Ajuts per la Recerca Josep Font
Syncope in relation to pulmonary arterial obstructive burden, hemodynamic status and short- and long-term outcome in patients with acute pulmonary embolism
Authors: Keskin B , Tokgoz H.C , Akbal O.Y , Hakgor A , Tanyeri S , Karagoz A , Turkday S , Kulahcioglu S , Tanboga I.H , Dogan C , Bayram Z , Ozdemir N , Kaymaz C 
Published: November 2020

Abstract

Background and aims
Although syncope (S) has been reported as one of the presenting findings in patients (pts) with acute pulmonary embolism (APE), its clinical and haemodynamic correlates and impacts on the long-term outcome in this setting remains to be determined. In this single-centre study we evaluated the clinical and haemodynamic significance of S in APE in initial asessment, and during short- and long-term follow-up period.

Methods
Our study was based on the retrospective and prospective analysis of the overall 641 pts (age 65 (51–74 IQR) yrs, 56.2% female) with diagnosis of documented APE who underwent anticoagulant (n=207), thrombolytic (n=164), utrasound-facilitated thrombolysis (UFT) (n=218) or rheolytic thrombectomy (RT) (n=52). The systematic work- up including multidetector computed tomography (MDCT), Echo, biomarkers, and PE severity indexes were performed in all pts, and Qanadli score (QS) was used as the measure of the thrombotic burden in the pulmonary arteries (PA).

Results
The S as the presenting symptom In 30.2% of pts with APE. At baseline assessment, S(+) vs S(−) APE subgroups had a significantly shorter symptom-diagnosis interval, a higher risk status according to the significant elevations in troponin T, D-dimer, the higher PE severity indexes, a more deteriorated right ventricle/left ventricle ratio (RV/LV r), right atrial/left atrial ratio (LA/RAr) and RV longitudinal function indexes including tricuspid annular planary excursion (TAPSE) and tissue velocity (St), a significantly higher PA obstructive burden as assessed by QS and PA pressures. Thrombolytic therapy (36.2% vs 21%, p&lt;0.001) and RT (11.9% vs 6.47%, p=0.037) were more frequently utilized S(+) as compared to S(−) group. However, all these differences between two subgroups were found to disappear after evidence-based APE treatments. In-hospital mortality (IHM) (12.95% vs 6%, p=0.007) and minor bleeding (10.36% vs 2.9%, p&lt;0.001) were significantly higher in S(+) pts as compared to those in S(−) subgroup. Binominal logistic regression analysis revealed that PESI score and RV/LVr independently associated with S while IHM was only predicted by age and heart rate. The COX proportional hazard method showed that RV/LVr at discharge and malignancy were independently associated with cumulative mortality during follow-up duration of 620 (200–1170 IQ) days.

Conclusions
The presence of S in pts with APE was found to be asociated with a higher PA obstructive burden, a more deteriorated RV function and haemodynamics and higher risk status which may need more agressive reperfusion treatments. However, in the presence of the optimal treatments, S did not predict neither in-hospital outcome, nor long-term mortality.

Funding Acknowledgement
Type of funding source: None
Evaluation of the REVEAL 2.0 simplified three-category model in a pulmonary arterial hypertension cohort enriched with congenital heart disease
Authors: Yaylali Y.T , Yagmur B , Kilickiran Avci B , Sinan U.Y , Senol H , Nalbantgil S , Kucukoglu M.S , Ongen Z 
Published: November 2020

Abstract

Objectives
Despite a remarkable progress in the management of pulmonary arterial hypertension (PAH) over the past decade, PAH still has a poor long-term outlook and remains an incurable condition. Risk assessment continues to be refined to identify patients at risk of early morbidity and mortality. We aimed to evaluate a new model, the US Registry to Evaluate Early and Long-Term PAH Disease Management (REVEAL) 2.0 risk score proposed for the follow-up of patients in our cohort.

Methods
We enrolled a mixed prevalent and incident cohort of patients with idiopathic PAH (20%), heritable (2.5%), congenital heart disease (CHD) (59.2%), and connective tissue diseases (18.3%) subsets (n=121) from 4 PAH centers from March 2007 to January 2019. Individual patient REVEAL 2.0 risk scores were applied at 12 months after the diagnosis (follow-up). Risk scores were calculated with 7 or more variables. Kaplan-Meier survival was estimated for a simplified three-category (low, intermediate, and high risk) model up to 60 months from 1 year after the diagnosis, with all-cause mortality as the end point. Log-rank test was used to compare estimates.

Results
The mean age was 46±16 years (78.5% women). 2/3 of the patients were CHD. The median survival was 60 months. 25 patients had died. The majority of the patients were NYHA FC II (48.8%) and III (42.1%) at follow-up. Figure 1 demonstrates KM 12- and 60- month survival in our cohort according to the simplified three-category (low, intermediate, and high risk) REVEAL 2.0 model. Overall, 58.7%, 15.7%, and 25.6% of the patients were classified as low, intermediate, and high risk, respectively, at follow-up. The REVEAL 2.0 model effectively discriminated risk in our cohort. Both 1 year- and 5 year-survival differed significantly between the 3 risk categories: 12-month mortality estimates were 1.41% for low risk, 5.3% for intermediate risk, and 16.1% for high risk (log-rank, P=0.013); and 60- month mortality estimates were 2.8% for low risk, 10.5% for intermediate risk, and 51.6% for high risk (log-rank, P=0.0001).

Conclusions
The REVEAL 2.0 simplified three-category model can be applied for risk assessment of the PAH subsets, particularly congenital heart disease at follow-up.
Figure 1

Funding Acknowledgement
Type of funding source: None