bluuebunny/crossref_metadata_2025_split huggingface dataset:
938 ARRHYTHMOGENIC CARDIOMYOPATHY IN A PATIENT CARRYING A PATHOGENIC LMNA VARIANT
Authors: Bariani Riccardo , Deola Petra , Rigato Ilaria , Cipriani Alberto , Cason Marco , Pilichou Kalliopi , Bauce Barbara 
Published: December 2022

Abstract

Background
Lamin A (LMNA) protein is one of the main constituents of the nuclear lamina. Pathogenic variants of LMNA gene have been demonstrated to be linked to a wide spectrum of disorders, including cardiac diseases. The first reported heart disease linked to LMNA was dilated cardiomyopathy (DCM), in a form typically characterized by the presence of conduction disorders and high incidence of sudden cardiac death (SCD) disrespectfully of left ventricular systolic function. Genetic variants of the same gene have been associated with Arrhythmogenic Cardiomyopathy (ACM), but its putative role as disease causing gene is still debated.

Case summary
a man with positive familial history for DCM presented to the Emergency Department because of palpitations. The electrocardiogram showed first degree AV-block, complete right bundle branch block and low QRS voltages on limb leads. Cardiac magnetic resonance revealed severe dilatation of the right ventricle with wall motion abnormalities in keeping with ACM, associated with mild dilatation and moderate dysfunction of left ventricle. The genetic test identified a pathogenic variant in LMNA. Moreover, non-sustained ventricular tachycardias were present on the ECG Holter. According to international guidelines on SCD prevention, the patient underwent ICD implantation, with one appropriate ICD discharge on a sustained ventricular tachycardia episode after few months.

Discussion
LMNA pathogenic variants can lead to a broad spectrum of cardiac manifestations, including Arrhythmogenic Cardiomyopathy. A genetic test should be considered if there is a familial cardiomyopathy associated with conduction disorders, in order to achieve a proper risk stratification for sudden death.
242 PRIMARY CARDIAC LYMPHOMA: A CASE REPORT
Authors: Di Cesare Annamaria , Gaudenzi Eleonora , Gardi Andrea , Ruggero Rossella , Moriconi Veronica , Spighi Lorenzo , Testa Paola , Piovaccari Giancarlo , Campo Gianluca , Carigi Samuela 
Published: December 2022

Abstract

Introduction
Primary cardiac lymphomas in immunocompetent patients are an uncommon malignancy, accounting for 1.3% of primary cardiac tumors, while metastases secondaries to extracardiac lymphomas are more common. Mean age at diagnosis is 63 years old. They mainly involve the right side of the heart, particularly right atrium. Symptoms of primary cardiac lymphoma are non-specific. Cardiac lymphoma typically follows an aggressive clinical course and the prognosis is poor, with more than 60% of patients dying within 2 months of diagnosis. Predictors of worse outcome are immune status, left ventricular involvement, arrhythmias and the presence of an extracardiac disease.

Case report
48-year-old obese and hypertensive man, in therapy for OSAS. In February 2022 admission to the emergency department due to jugular pressure and mild exertion dyspnoea. Neck CT excluded inflammatory collections; echocardiography showed normal cavitary dimensions and biventricular systolic function, absence of major valvulopathies and circumferential pericardial effusion of n.d.d. with TD max 2.5 cm and partial collapse of the right atrium, for which started corticosteroid therapy. Chest CT showed mediastinal lymphadenopathy and persistence of pericardial effusion. In April, due to worsening dyspnoea, cardiac CT demonstated a solid mass at the passage from the superior vena cava to the right atrium (50×37×67 mm), leading to compression-infiltration phenomena on the superior vena cava, and thrombosis of the right mammary vein. Cardiac MR confirmed a voluminous expansive-infiltrative lesion, with an irregular lobular profile, projecting into the superior vena cava and extended to the right atrium. This mass appears very iperintensive in T2 stir sequences with an early contrast impregnation and uneven intralesional late enhancement (picture 1). With suspicion of lymphoma, after collegial discussion between thoracic surgeons, cardiologists, interventional radiologists and cardiac surgeons, a right transjugular radio- and echo-guided biopsy was performed to complete diagnostic iter; biopsy was positive for peripheral B lymphocyte-derived large-cell diffuse lymphoma with large necrotic and subnecrotic areas. Chemotherapy showed initial benefit,with a clear reduction in size of the cardiac mass and mediastinal lymphnodes at 2 months follow up, with regression of dyspnoea.

Conclusions
In our patient, despite an early lymphoma onset and a typical poor prognosis compared to literature, an early diagnostic-therapeutic iter, an immunocompetent status, the absence of extracardiac disease and a preserved left ventricular ejection fraction, ensured an immediate clinical benefit with an improvement of his quality of life.
1080 EFFECTS OF ENZYME REPLACEMENT THERAPY ON CMR PARAMETERS IN PATIENTS WITH FABRY DISEASE: A SYSTEMATIC REVIEW AND META-ANALYSIS
Authors: Figliozzi Stefano , Georgiopoulos Georgios , Stankowski Kamil M , Camporeale Antonia , Pieroni Maurizio 
Published: December 2022

Abstract

Background
Cardiovascular death is the leading cause of mortality in patients affected by Fabry Disease (FD). Cardiac magnetic resonance (CMR) is the gold-standard imaging modality to assess FD heart involvement and enzyme replacement therapy (ERT) has the potential to slow or revert FD organ involvement and dysfunction. However, the effect of ERT on cardiac disease progression remains undefined. Thus, we performed a systematic review and meta-analysis to assess the impact of ERT on CMR parameters in FD patients.

Methods
Data search was conducted from inception through June 1, 2022, using the following Medical Subject Heading terms: “Fabry Disease” AND (“Cardiac MRI” OR “Cardiac Magnetic Resonance” OR “Cardiovascular Magnetic Resonance” OR “CMR”) AND (“ERT” OR “Enzyme Replacement Therapy”. Studies were included if contemplated FD patients undergoing baseline and follow-up CMR after ERT. Pre-defined study outcomes were the change of i) left ventricular wall mass (LVM; grams); ii) LVM indexed (grams/mq); iii) maximum left ventricular wall thickness (MLVWT, mm), iv) Late gadolinium enhancement (LGE; % of LVM) and v) native-T1 mapping (msec) between baseline and follow-up CMR. The study protocol was registered in the PROSPERO database (CRD42022336223).

Results
Ten studies including 517 FD patients were included. Between baseline and follow-up CMR, there was a significant decrease in LVM (pooled hazard ratio: -19.5 grams [95% CIs, -34.3; -4.63]), LVM indexed (-2.84 grams/mq [95% CIs, -5.24; -0.44]), MLVWT (-0.96 mm [95% CIs -1.9; -0.02]), and an increase in LGE (0.8% [95% CIs, 0.47; 1.14). T1-mapping did not significantly change (pooled hazard ratio: 6.12 msec [95% CIs -2.39; 14.62]). There was publication bias in LVM (Egger test: p-value = 0.047) but not in LVM index, MLVWT, T1-mapping and LGE.

Conclusion
In a pooled-analysis including 427 FD patients treated with ERT undergoing baseline and follow-up CMR, there was a significant decrease in LVM, LVM indexed, and LVMWT. In contrast, there was an increase in LGE extent whereas native-T1 mapping values did not significantly change.
584 AN UNUSUAL CASE OF A STRESSED HEART
Authors: Gigante Carlo 
Published: December 2022

Abstract
A 53-year-old woman was admitted to our emergency department complaining severe stabbing and oppressive retrosternal pain radiating posteriorly to left scapulae and left arm The onset was followed by general malaise, nausea, vomiting which she attributed to a period of intense emotional stress. She denied common cardiovascular risk factors, but in 2019 had a suspected acute coronary syndrome with subsequent finding of normal coronary artery at angiography in another institute. Her past medical history included severe asthma on multiple drug therapy with regular follow-up. Physical exam was normal. Electrocardiogram (ECG) showed subtle diphasic-negative T wave in anterior leads with mild ST depression in V4-V5, with patient still symptomatic. Lab examinations showed significantly increased troponins levels (hsTnI 664 ng/L, reference &lt; 34 ng/L) with other lab values within normal range. A transthoracic echocardiogram at the bedside revealed mildly reduced systolic function with hypo-akinesis of the mid-apical anteroseptal and anterior left ventricular myocardial wall. Therefore, acute coronary syndrome was suspected and heparin and aspirin at a loading dose were administered. Still symptomatic, the patient was admitted in the ICU. In the same day a left heart catheterization revealed normal aspect of epicardial coronary arteries and ventriculography showed preserved basal and apical myocardial wall motion but hypo-akinesis of mid-cavitary walls, suggesting a possible mid-ventricular variant of Takotsubo syndrome (Figure 1). The patient was still symptomatic for stabbing chest pain after coronarography. To rule out the suspicion of acute aortic syndrome and pulmonary embolism, she also underwent a contrast-enhanced chest CT scan, that was fortunately normal. During her hospital stay, the patient had no arrhythmic and hemodynamic complications. Peak troponin level was 5027 ng/L. At serial ECGs, she developed diffuse deep T-wave inversion and a mild prolonged QT interval. Echocardiogram was repeated after 4 days showing complete normalization of left ventricular wall motion and restored ejection fraction also.
From the traditional “apical ballooning” Takotsubo Syndrome with apical akinesia and basal hypercontractility, different variants have been described. The mid-ventricular variant, seen in our patient was found in only 14.6% of the cases in the International Takotsubo Registry, followed by basal “reverse” and focal variants (2.2% and 1.5%, respectively).
439 TRANSIENT SEVERE MITRAL REGURGITATION IN REVERSED TAKOTSUBO SYNDROME
Authors: Leopizzi Alessandra , Santoro Francesco , Costantino Roberto , Giorda Gianpaolo , Passero Tommaso , Ignone Gianfranco , Brunetti Natale Daniele 
Published: December 2022

Abstract
A 65-years old Caucasian woman was referred to the emergency department for chest pain, dyspnoea and high systolic blood pressure. In the previous days she complained a constant state of anxiety and worries due to family troubles.
At the admission 12 – lead EKG showed sinus rhythm, ST-T segment depression &gt;1 mm in the lateral and anterior leads (from V2 to V6). Laboratory exams showed elevated values of high sensivity troponin levels (high-sensitive troponin: 41 pg/mL – maximum laboratory cut off value: 12 pg/mL).
Bedside echocardiogram showed an LVEF of 40% due to apical hyperkinesis, akynesis of the basal segments and hypokinesis of the mid segments of the left ventricle; a severe double jet MR (Fig.1); a type II diastolic dysfunction (E/A: 1,5; E/e’: 14). Several B lines (&gt; 3) were present in all pulmonary regions assessed by lung POCUS.
Cardiac angiography demonstrated non obstructive coronary artery disease. Left ventriculography showed an hyperdynamic apex and severe basal hypokinesis.
Clinical and functional status rapidly improved. Daily EKGs were registered with a progressive resolution of the ST-T segment depression. She was discharged on the 7th days and the TTE in pre-discharge showed an LVEF of 60%, without wall motion abnormalities and complete recovery of mitral regurgitation.
We report a case of reversible severe mitral regurgitation in a patient with basal ballooning TTS. Mital regurgitation is generally described in the contest of classical apical TTS. The potential mechanisms for severe MR are similar to those of acute myocardial infarction. Admission and daily echocardiographic evaluation is crucial in this subset of patients, with a tailored therapy following the severity of mitral valve disease.
Fig. 1
115 DIURETIC DOSE TRAJECTORIES IN DILATED CARDIOMYOPATHY: PROGNOSTIC IMPLICATIONS
Authors: Nuzzi Vincenzo , Cannatà Antonio , Pellicori Pierpaolo , Manca Paolo , Stolfo Davide , Gregorio Caterina , Barbati Giulia , Bromage Daniel I , Mcdonagh Theresa , Cleland John Gf , Merlo Marco , Sinagra Gianfranco 
Published: December 2022

Abstract

Background
For patients with heart failure, prescription of loop diuretics (LD) and higher doses are associated with adverse prognosis. We investigated LD dose trajectories and their associations with outcomes in patients with dilated cardiomyopathy (DCM).

Methods
Associations between outcomes and both furosemide equivalent dose (FED) at enrolment and change in FED in the subsequent 24 months were evaluated. According to FED trajectory, patients were divided in i) dose↑ (FED increase by ≥50% or newly initiated); ii) dose↓ (FED decrease by ≥50%); iii) stable dose (change in FED by &lt;50%); iv) never-users. Primary outcome was all-cause-death/heart transplantation/ventricular-assist-device/heart failure hospitalization. Secondary outcome was all-cause-death/heart transplantation/ventricular-assist-device.

Results
Of 1,131 patients enrolled, 738 (65%) were prescribed LD at baseline. Baseline FED was independently associated with outcome (HR per 20mg increase: 1.12 [95% CI 1.04-1.22, p=0.003]. Of the 908 with information on FED within 24 months from enrolment, 31% were never-users; 29% dose↓; 26% stable dose and 14% dose↑. In adjusted models, compared to never-users, stable dose had a higher risk of primary outcome (HR 2.42 [95% CI: 1.19-4.93], p=0.015), while dose↑ had the worst prognosis (HR 2.76 [95% C.I. 1.27-6.03], p=0.011). The results were consistent for the secondary outcome. Compared to patients who remained on LD, discontinuation of LD (143, 24%) was associated with improved outcome (HR 0.43 [95% C.I. 0.28-0.65], p&lt;0.001).

Conclusions
In a large cohort of patients with DCM, LD use and increasing FED are powerful markers of adverse outcomes. Patients who never require LD have an excellent prognosis.
130 PROGNOSTIC IMPLICATION OF NEUTROPHIL-LYMPHOCYTE RATIO (NLR) IN MYOCARDITIS: RESULTS FROM A MULTICENTRE, MULTINATIONAL STUDY
Authors: Baggio Chiara , Cannatà Antonio , Scott Paul , Bromage Daniel , Piper Susan , Mcdonagh Theresa , Merlo Marco , Sinagra Gianfranco 
Published: December 2022

Abstract

Background
Neutrophil–lymphocyte ratio (NLR) is an easily obtained inflammatory biomarker. Recently it has emerged as baseline NLR is independently associated with incident cardiovascular (CV) events and all-cause mortality. However, its role in acute myocarditis (AM) has not been evaluated.

Purpose
The aim of the present study was to investigate the prognostic value of NLR in patients with AM.

Methods
All consecutive patients with a diagnosis of AM admitted to two tertiary referral cardiac centres (King's College Hospital, London, UK and Azienda Sanitaria Universitaria Giuliano-Isontina, Trieste, Italy) between October 2006 and June 2020 were included in the study. Diagnosis was confirmed by either cardiac magnetic resonance or endomyocardial biopsy. The outcome measure was all-cause mortality. Patients were divided into two groups according to NLR value defined in previous studies (i.e, 2.5).

Results
A total of 260 patients with AM were included in the study. Baseline characteristics were comparable in both groups. Approximately two thirds of patients were males (n=175, 67%) with a mean age of 45±16 years. Main clinical presentation was predominantly infarct-like (n=189, 73%), followed by heart failure (HF) (n=46, 18%) and arrhythmic (n=25, 10%). Patients admitted with a HF presentation were more prevalent in the group with elevated NLR, while no difference was found in the other clinical presentations. For all patients, ECG features were comparable between groups. However, patients with elevated NLR presented with slightly lower LVEF (54±11% vs 49±13% respectively, p=0.001). Higher NLR was associated with worse prognosis (Figure 1, p=0.02).

Conclusions
The NLR is a promising and accessible inflammatory biomarker. In patients with AM, elevated NLR is associated with worse prognosis. Further research is advocated to confirm these data in larger populations.
228 PD-1-TARGETED T-CELL CHECKPOINT INHIBITORS-RELATED MYOCARDITIS COMPLICATED BY COMPLETE ATRIOVENTRICULAR BLOCK: A CASE SERIES OF SUCCESSFUL MANAGEMENT
Authors: Collini Valentino , Imazio Massimo , De Biasio Marzia , Lepre Veronica , Burelli Massimo , Taurian Marco , Pellin Lisa , Sinagra Gianfranco 
Published: December 2022

Abstract

Background
Immune checkpoint inhibitors (ICI) have revolutionized the clinical management of a broad spectrum of solid and hematopoietic malignancies over the past decade. ICI are associated with several Immune-related Adverse Events, among which myocarditis and atrioventricular blocks are uncommon but potentially fatal toxicities.

Material and Methods
We describe two patients undergoing treatment with PD-1 checkpoint inhibitors for metastatic cancers who developed myositis and myocarditis complicated by complete atrioventricular block (CAVB). The first patient had a history of metastatic sarcomatoid urothelial carcinoma treated with Pembrolizumab. After two cycles, he developed eyelid ptosis and was hospitalized for syncopal episodes due to CAVB associated with ICI myocarditis.
The second patient had a history of metastatic melanoma and was hospitalized for myocarditis and myositis after the second infusion of Nivolumab.

Results
In the first case, high-dose corticosteroid therapy was promptly initiated, with subsequent rapid recovery of sinus rhythm and rapid resolution of symptoms.
The second patient, despite high-dose corticosteroid therapy, developed CAVB requiring implantation of a definitive PM. After initiation of mycophenolate mofetil and intravenous immunoglobulin therapy, gradual recovery was observed.
Both patients had normal left ventricular function with no wall motion abnormalities. However, speckle tracking echocardiography revealed a normal global longitudinal left ventricular strain (GLS) of -19.8% in patient 1 and a depressed GLS of -14.7% in patient 2, consistent with the different evolution of the two myocarditis.

Conclusions
We recommend a high degree of caution and awareness to all physicians when treating immunotherapy patients. Myocarditis is a relatively rare but potentially fatal event due to its early onset, non-specific clinical presentation and fulminant progression. GLS may be useful in detecting myocardial damage in these patients. Discontinuation of ICI, cardiac pacing, treatment with high-dose corticosteroids and immunosuppressive agents may improve the outcome.
493 A CASE REPORT OF SUBACUTE INFLAMMATORY HEART DISEASE WITH AN ATYPICAL ONSET
Authors: Gonano Nicola , Nuzzi Vincenzo , Pavan Daniela , Piazza Rita , Pecoraro Rosa , Bussani Rossana , Fabris Enrico , Merlo Marco , Sinagra Gianfranco 
Published: December 2022

Abstract

Background
Inflammatory heart disease is a heterogeneous process with variegate clinical manifestations. The acute phase is characterized by a sudden injury involving cardiomyocytes, cardiac conduction system and/or pericardium, with different pathophysiological implications.

Case Summary
A 26-year-old previously healthy woman presented for worsening fatigue and bradycardia. The ECG at admission showed total heart block with infra-Hisian escape rhythm, heart rate was 36 bpm. She reported no history of tick bite or recent inflammatory event; body temperature was 36,8 °C. Laboratory assessment showed persistently raised troponin (28943 -&gt; 32632 ng/l), C-reactive protein was 0,70 mg/l, white blood cells 4,86×10^3/µl, procalcitonin 0,03 µg/l, interleukin-6 was 60,5 pg/ml (n.v. &lt;28,0) and NT-pro-BNP was 312 pg/ml. Borrelia, Salmonella, Ricketsiae, Toxoplasma screening was negative for acute infection as well as any other viral serology. Comprehensive laboratory autoimmunity assessment was negative. Echocardiography revealed normal biventricular volume and kinetics, no valvulopathies and no pericardial effusion. Coronary angiogram was normal. The cardiac magnetic resonance showed extensive oedema and contextual late gadolinium enhancement predominantly in the interventricular septum and mid segment of the anterior wall. Serum angiotensin-converting enzyme concentration was normal. Due to persistent heart block, after 5 days the patient underwent endomyocardial biopsy that showed slight oedema and mild fibrosis without lymphocytic infiltration nor histochemical findings suggestive of active myocarditis. Granulomas were absent. Viral analysis on myocardium was negative. An intermediate dose of steroids was started with a progressive restoration of 1:1 atrioventricular conduction and shortening of QRS up to incomplete right bundle branch block, hence the patient was discharged without pacemaker implantation.

Discussion
In heart inflammatory diseases with bradyarrhythmic onset, atrioventricular conduction may be restored with targeted therapy. Multimodality assessment is crucial in the diagnostic and therapeutic work-up of these cases.
871 AN ADVANCED BREATHING DISORDER IN HEART FAILURE: IS THERE AN OVERLAP THROUGH EXERCISE OSCILLATORY VENTILATION AND CHEYNE-STOKES RESPIRATION? A CASE REPORT
Authors: Baracchini Nikita , De Martino Fabiana , Cunha Goncalo , Carriere Cosimo , Merlo Marco , Agostoni Piergiuseppe , Sinagra Gianfranco 
Published: December 2022

Abstract

Case summary
A 60-year-old man, normal-weighted, former smoker with a known non obstructive hypertrophic cardiomyopathy (HCM), severe mitral and tricuspid regurgitation and permanent atrial fibrillation was hospitalized for decompensated heart failure (recent worsening of exertional dyspnoea and appearance of lower limbs oedema). At the admission the ECG documented a permanent AF with normal average heart rate (66 rpm). Blood tests showed only a mildly elevation of BNP (497 pg/ml). Before the valvular repair surgery patient completed the diagnostic work-up with spirometry and cardiopulmonary exercise testing (CPET). The spirometry showed a mixed disorder predominantly obstructive (FEV1 1.8 L/min, 51% of predicted value), consistent with COPD. Also DLCO was moderately reduced. CPET documented a severe reduction in functional capacity (VO2 peak/Kg 9.2 ml/Kg/min, 32% of predicted value, Watt at peak 61), clear signs of cardiac and pulmonary vascular limitation (VO2 Work Slope 7.1, VE/VCO2 Slope 45). Interestingly, during the entire duration of the effort there were an exercise oscillatory ventilation (EOV). Instead, cardiopulmonary registration at rest showed an advanced oscillatory breathing disorder with regular long phases of apnea (average duration of 40 sec). Apnea phases were diurnal and were associated with desaturation at pulsossimetry (SpO2 93-92%).
This rest breathing disorder consisted with the definition of Cheyne-Stokes respiration. Of note, the patient had no previous history of OSAS or central sleeping disorder.

Discussion
Cheyne-Stokes respiration (CSR) is historically considered as a central sleeping disorder, particularly common in patients with heart failure with reduced ejection fraction (HFrEF) with a wide prevalence range between 16% up to 50%. It is also well known its negative prognostic value as it highly impairs quality of life and increases cardiac mortality. Recently, in HFrEF patients emerged that CSR could be also diurnal and sometimes associated to EOV.
The peculiarity of this clinical case lies firstly in the fact that we clearly documented a possible overlap through EOV and CSR, respectively seen as exerctional and rest advanced breathing disorders. Secondly, CSR was previously reported predominantly in case of LVEF &lt; 40%, but this patient had a non obstructive HCM without systolic disfunction (LVEF was 63%). This suggest that CSR and EOV could have the same pathophysiology pathway, with a continuum through each other, regardless the model of HF (reduced vs preserved ejection fraction).
Keywords: Cardiopulmonary Exercise Testing, Exercise Oscillatory Ventilation, Cheyne-Stokes Breathing, Heart Failure, Hypertrophic Cardiomyopathy.