bluuebunny/crossref_metadata_2025_split huggingface dataset:
A CASE OF SYNCOPE
Authors: Romano G , Carmina M , Bonni E , Minà C , Bellavia D , Vaccaro P , Panzarella G , Pieri M , Polizzi V 
Published: May 2024

Abstract

A male patient aged 20 years old who presented exertional syncope was admitted to the hospital.
At presentation patient was awake and cooperative. Hemodynamic was stable with normal gas exchange and respiratory pattern. No focal neurological signs were found. Physical exam and blood tests were normal. Electrocardiogram showed normal sinus rhythm, short PR intervals with signs of ventricular preexcitation, left ventricular hypertrophy (LV), like a saddleback ST elevation in leads V1–V2 and several ST–T changes in multiple–lead, T wave inversion. No extracardiac features were found. The echocardiography showed features of hypertrophic LV, without LV out flow track obstruction and normal systolic function. There was “ground glass’ appearance of the myocardium and global longitudinal strain reduction and "apical sparing". Analysis of dry blood drops ruled out Fabry disease. Cardiac magnetic resonance showed marked asymmetric septal hypertrophy with late gadolinium enhancement septal impregnation. Waiting for the results of genetic tests, the diagnosis of hypertrophic cardiomyopathy (HCM) has been made. Electrophysiological studies were performed and a ventricular tachycardia was induced; accordingly, a subcutaneous defibrillator was implanted. A heterozygous ALPK3 mutations (del_14bp, rs1466450842) and a heterozygous SCN5A (missense variation (p.Arg 225 Trp)), inherited from the mother and father respectively, were detected in the proband. The clinical management was very complex because progressive myocardial hypertrophy is one of the main characteristics of cardiomyopathy related to the ALPK3 gene and furthermore, mutations in SCN5A are associated with severe cardiac conduction disorders and degenerative alterations of the conduction system. To the best of our knowledge, this is the first reported case simultaneously reporting both mutations.

Conclusions
Diagnosis of cardiomyopathy with hypertrophic phenotype is still a challenge. Precise diagnosis depends on multiparametric approach including molecular genetic techniques.
A LATE PRIMARY CARNITINE DEFICIENCY DIAGNOSIS IN ADULTHOOD DURING ARRHYTHMIC RISK REASSESSMENT IN HYPERTROPHIC CARDIOMYOPATHY
Authors: Ciampi C , Abete R , Vittori C , Sebastiani R , Iorio A , Mancinelli A , De Filippo P , Terzi A , Senni M , Iacovoni A 
Published: May 2024

Abstract

Background
Hypertrophic cardiomyopathy (HCM) is the most common inherited heart disease, typically caused by mutations in cardiac sarcomere protein genes. Inborn errors of metabolism are a rare cause of this condition, usually diagnosed in infancy due to severe heart failure and concurrent extracardiac manifestations.

Clinical Case
A 36–year–old female patient, diagnosed with non–obstructive HCM at the age of 9 due to heart failure, was treated with beta–blockers and ACE inhibitors. During the follow up she remained stable in NYHA class I, family screening was positive but genetic analysis has never been performed due to parents and patient’s refusal. At the latest echocardiographic evaluation (August 2023), a slight reduction in ejection fraction (from 50% to 40%) was observed, with akinesia of the IVS and the inferior wall, in the presence of known asymmetric hypertrophy. Based on this finding, a CMR was performed, which compared to the previous one conducted 3 years earlier, confirmed the reduction in ejection fraction and showed an increase in left ventricular volumes and a significant worsening of LGE areas. Additionally, a cardiopulmonary exercise test was performed, revealing a reduced VO2max of 15 l/min. To assess the risk of sudden cardiac death, an HCM Risk–SCD calculation was performed, yielding a result indicating a mild risk (3.19%). Considering the rapid disease progression, a family history of sudden cardiac death, and increased isolated ventricular extrasystoles from recent Holter monitoring, a S–ICD was implanted. Simultaneously, the patient agreed to genetic testing, revealing an exon 5 SLC22A5 gene mutation, suggesting autosomal recessive primary carnitine deficiency, a rare metabolic disorder usually causing early heart failure and several extracardiac manifestation, none of which the patient exhibited. In our case, uncovering this finding leads to two significant therapeutic implications: a major appropriateness of implanting an ICD, as the HCM Risk–SCD is not applicable in metabolic forms of HCM, and the need to initiate oral carnitine supplementation therapy to halt the progression of the disease. This evidence underscores the importance of personalised arrhythmic risk assessment in HCM patient evaluations and the necessity to exclude atypical metabolic causes of HCM, even if unlikely, given the significant therapeutic implications that may arise.
A STRANGE CASE OF CARDIOTOXICITY FROM ANTIBLASTIC TREATMENT: A HIGH PRICE TO PAY
Authors: Samperi S , Laura C , Trambaiolo P , D‘Ambrosi A , Mustilli M , Romano S , Granatelli A 
Published: May 2024

Abstract

Introduction
Cardiovascular diseases and cancer represent the two main public health problems in the west. Targeted oncological therapies extend the average life expectancy of patients, but also cause acute or chronic cardiovascular toxicity.

Case Report
A 58–year–old woman without cardiovascular risk factors comes to the Emergency Department for oppressive chest pain, associated with vomiting and tachycardia. Two days before admission, adjuvant chemotherapy treatment with 5–fluorouracil (5–FU) and oxaliplatin had been administered to the patient for a rectal cancer detected the previous year. At blood tests D–Dimer was negative, the troponin was 0.44 ng/ml [&lt;0.034 ng/ml], NTproBNP 8820 pg/ml [&lt;125 pg/ml]. The electrocardiogram showed a mild but widespread elevation in the anterior lead and the transthoracic echocardiography (TTE) revealed a reduction in ejection fraction (EF 20%) with global hypokinesia and akinesia of the apex extending to the middle segments. At the angiography the coronary arteries were free from significant stenoses. Hospitalization in cardiac intensive care unit was complicated by episodes of torsades de pointes degenerating into ventricular fibrillation (VF), treated with 3 DC–shocks; the patient was intubated and mechanically ventilated for two days. During the hospitalizzation, heart failure and antiarrhythmic therapy was started, with improvement in the patient‘s ventricular systolic function and symptoms. The patient rejected cardiac magnetic resonance imaging (cardiac MRI). On discharge, after ten days, TTE revealed an EF of 40%, filling pressures reduced, NTproBNP and troponins values normalised.

Discussion
5–FU is the second most cardiotoxic oncology drug, after anthracyclines. Patients who start therapy with fluoropyrimidines may present chest pain associated with findings suggestive of coronary occlusion, as well as biochemical evidence of myocardial injury in the absence of disease on coronary angiography. The pathogenetic mechanism is probably related both to coronary vasospasm and a direct myocardial toxicity of the drug. However severe left ventricular dysfunction remains a behavior not described in the literature with this type of antiblastics. Cardiac MRI would have been helpful in clarifying the etiology of the toxicity.
PATIENT WITH CHRONIC CORONARY SYNDROME: USE OF MULTIMODAL IMAGING FOR CORRECT DIAGNOSIS AND TREATMENT
Authors: Formigli D , Luongo A , Franco V , Moscato F , Cocozza S , Parente A , Coppola G , Di Donato M , Tozzi N , De Vizia M , Scherillo M 
Published: May 2024

Abstract

In the context of CCS, CCTA allows us to discriminate with almost certainty between patients with the absence of disease. In case of a positive test, the characteristics of the plaque allow to stratified risk of developing future events. In doubtful cases it is necessary to resort to a multimodal imaging strategy for the correct diagnosis. We present the case of a 63-year-old hypertensive and dyslipidemic man who started presenting two months ago episodes of asthenia associated with tachycardia and jugular constriction after taking the usual CCB therapy. With a pre-test probability of 26%, a CCTA scan was requested which highlighted a non-calcific fibrous plaque (Image 1) at the level of the middle circumflex inducing a moderate stenosis (Cad-Rads 3). The patient underwent coronary angiography which confirmed this lesion and also highlighted a similar one downstream of the first. (Image 2) The OCT evaluation showed: 7 mm eccentric fibrous proximal plaque with evidence of multiple intimal layers (Healed plaque) in its distal third and with evidence of a medial-intimal flap involving three quadrants in the proximal two thirds (270°), with current intact endothelium and presence of neo-angiogenesis; MLA 2.33 mm² and AS 70%. Picture compatible with healed spontaneous dissection of the vessel. (Image 3) The subsequent 12 mm concentric plaque (360° involvement of the vessel) had a predominantly lipid component with macrophages and fibrous cap of 60 µm, MLA of 2.3mm² and AS 72%. Panel compatible with high risk plaque. (Image 4) It was decided to implant a 3.5x26mm drug-eluting stent through OCT-guided PCI with final MSA of 7.62 mm², stent expansion of 81%, absence of dissections at the edges and residual distal edge plaque with MLA of 7.6 mm². (Image 5).

Conclusions
Healed plaques are more frequent in patients with CCS and represent a plaque complicated by medial-intimal ulceration subsequently healed by neo-endothelialization. On CCTA they appear as non-calcific fibrous plaques with an intermediate density expressed in Hounsfield Units but the definitive diagnosis can only be obtained using an Intravascular Imaging method (OCT in the case presented). The patient appears asymptomatic after resuming his usual antihypertensive therapy at 30-day FU.
A RARE CASE OF INTERVENTRICULAR SEPTUM DUPLICATION
Authors: Massara M 
Published: May 2024

Abstract

Case Report
A 62–year–old man, history of hypertension. In 2015, there was suspicion of non–compaction cardiomyopathy, and he underwent cardiac MRI at another facility (report not available). The patient reported palpitations and dyspnea with exertion, leading to a follow–up visit. EKG showed sinus rhythm 90/min, nonspecific intraventricular conduction delay and isolated monomorphic ventricular ectopic beats. Echo revealed a mildly dilated left ventricle (end–diastolic volume 88 ml/m), systolic function at the lower limits of normal (EF 53%), and prominent muscular structures near the posterior interventricular septum (SIV), likely related to anomalies of the papillary muscles (prominent and possibly duplicated posterior–medial papillary muscle). There was apical trabecular protrusion, which did not meet the criteria for non–compaction (NC/C ratio in systole approximately 1), with no other significant findings. The cardiac MRI, performed to assess dilated cardiomyopathy, revealed a conspicuous structural abnormality in the septo–papillary region, located medio–apically and paraseptal–endocardial in the left ventricle. This anomaly lacked evident chordae tendineae with the mitral valve leaflets and exhibited synchronous systo–diastolic motion with the left ventricular wall, suggesting septal duplication. The septal thickness was slightly reduced, particularly in the medio–apical region. Additionally, there was hypertrabeculation of the posterior and lateral walls of the left ventricle, exceeding the threshold for non–compaction (NC/C ratio in end–diastole: 2.6 – normal range: &lt;2.3). Left ventricular mass was normal (mass: 173.52 g; mass/body surface area (BSA): 86.58 g/m). Basal septum, medio–apical septum and medio–apical lateral wallshowed hypokinetic contractility. The left ventricle was dilated (end–diastolic diameter: 55.0 mm; end–systolic diameter: 45.3 mm – end–diastolic volume: 230 ml; stroke volume/BSA: 57.6 ml/m² – EF: 51%). Areas of late gadolinium enhancement (LGE) were observed in the anterior medio–basal septum and at the site of the described structural muscular anomaly, both displaying an intramural non–ischemic pattern.

Conclusions
The described findings suggest a picture of dilated cardiomyopathy and an associated structural septo–papillary anomaly of uncertain diagnostic interpretation (septum duplication with associated non–compacted myocardium? duplicated posterior–medial papillary muscle with associated non–compacted myocardium?).
SUBACUTE LEFT VENTRICULAR FREE WALL RUPTURE
Authors: Astuti G , Mingoia G , D’Amico L , Gargano M , Marotta A , D’Angelo F , Leggio G , Ciaramitaro G , De Michele G , Coppola G , Evola S , Argano V , Puccio D , Corrado E 
Published: May 2024

Abstract
Left ventricular free wall rupture is a rare and catastrophic mechanical complication after myocardial infarction. Surgical exploration and rupture repair is the definitive diagnostic and therapeutic procedure. We report the case of a 69–year–old male with no significant cardiac history, admitted to our department for an inferior–lateral ST–segment elevation myocardial infarction, manifesting as chest pain and subsequent loss of consciousness. On admission, the patient was hemodynamically stable (BP: 100/60 mmHg; HR: 127 bpm). Urgent coronary angiography indicated acute thrombotic occlusion of the circumflex artery’s OM branch, necessitating percutaneous coronary intervention on the affected vessel. Echocardiography identified akinesia in the inferior septal, inferior and inferior–lateral walls, along with pericardial effusion with hemorrhagic density (3.7 cm at the atrioventricular junction in subcostal projection), causing marked biatrial compression and significant dilation of the suprahepatic venous system. Urgent angio–CT ruled out aortic dissection or ventricular wall rupture. However, due to deteriorating hemodynamic conditions, emergency median sternotomy with pericardial toilet was performed, revealing no evident breaches in the cardiac walls and targeted echocardiography revealed a mild circumferential pericardial effusion (1.1 cm). Following amino and inotropic support, the patient’s clinical conditions stabilized. On the fifteenth day post–acute event, a new syncopal episode occurred (BP: 110/70 mmHg, HR 90 bpm). Echocardiography showed an organized clot compressing right atrium and right ventricular inflow tract during the systo–diastolic phase. Angio–CT revealed a voluminous blood collection at the left ventricular apex, supplied by iodinated contrast, suggesting a probable rupture of the postero–inferior cardiac wall. Consequently, a second emergency median sternotomy exposed profuse bleeding from a left ventricular wall pseudoaneurysm. After initiating extracorporeal circulation, the clot was evacuated and a 1 cm breach in the left ventricular inferior wall was sutured. Considering recent STEMI and the need for high doses of inotropic support, an intra–aortic balloon pump was positioned.Post–procedural echocardiography confirmed successful repair with no subvalvular mitral apparatus alterations. Unfortunately, after approximately 12 hours of intensive monitoring, the patient succumbed to refractory cardiogenic shock despite therapy.
ROLE OF ST–SEGMENT ELEVATION AT POST–ROSC ECG IN PATIENTS RESUSCITATED FROM OUT–OF–HOSPITAL CARDIAC ARREST
Authors: Pontremoli S , Bendotti S , Primi R , Currao A , Sechi G , Marconi G , Ronchi V , Contri E , Panni G , Sgotti D , Zorzi E , Cazzaniga M , Piccolo U , Bussi D , Ruggieri S , Facchin F , Soffiato E , Centineo P , Reali F , Gentile F , Baldi E , Compagnoni S , Quilico F , Vicini Scajola L , Fasolino A , Lopiano C , Savastano S 
Published: May 2024

Abstract

Background
A 12–lead electrocardiogram (ECG), performed after return of spontaneous circulation (ROSC) in out–of–hospital cardiac arrest (OHCA), is essential for the identification of ST–segment elevation). The aim of the study is to investigate whether the presence of ST elevation may be a prognostic determinant in post–OHCA patients.

Materials and Methods
A total of 878 post–ROSC ECGs were collected from patients enrolled from 01/01/2015 to 12/31/2022 from the Lombardy Region Cardiac Arrest Registry (LombardiaCARe). Univariable and multivariable Cox regression models were applied to test the association between the presence of and morphology of supraST and mortality at 30 days after the event.

Results
Among the 878 post–ROSC ECGs, 406 (46.2%) had ST elevation [49 with tombstone morphology; 26 with lambda morphology; 45 with triangular morphology; and 8 with wave morphology]. Patients with ST elevation were more frequently males (73% vs 59%, p&lt;0.001), younger [66 years old (57–75) vs 71 (61–80), p&lt;0.01], and with a more frequently non–defibrillating rhythm of presentation (25%vs59%, p&lt;0.01) and an event more frequently witnessed by 118 (30% vs 21%, p=0.008). Thirty–day survival was higher in patients with ST elevation (56% vs 41%, p&lt;0.001). Correcting for variables associated with 30–day survival (age, sex, QRS amplitude, ECG acquisition time, first rhythm of presentation), the presence of ST elevation was not significantly associated with 30–day mortality [HR: 0.67 (95% CI: 0.27–1.64); p=0.05], while the number of segments was [1.1 (95%CI 0.85–0.15), p=0.004]. No morphology was independently associated with mortality when compared with standard morphology.

Conclusions
The presence of ST elevation on ECG post ROSC possesses, in addition to a known diagnostic role, a prognostic role in predicting 30–day survival especially if present in more than one segment.
AN UNUSUAL LEFT VENTRICULAR APICAL MASS COMPLICATING ACUTE MYOCARDIAL INFARCTION
Authors: Nunziata L , Ambrosino S , Carbone L , Laezza A , Nardiello V , Prisco A , Miele R , Sena L , America R , Buonauro A , Munciguerra O , Pirozzi C , Di Mauro P , Terracciano F , Maresca G , Granata F , Falato S , Volpicelli M , Muto C , Capasso M , Caliendo L 
Published: May 2024

Abstract
An 34–year–old man presented to the emergency department of our hospital with palpitations and presyncope. He was a smoker but had no others known cardiovascular risk factors. At admission, his electrocardiogram (ECG) showed sustained monomorphic ventricular tachycardia (VT) at a rate of 187 beats per minute. The VT was successfully treated with synchronized direct current cardioversion. The ECG in sinus rhythm showed Qs from V1 to V6 with ventricular repolarization anomalies in the same site suspicious for previous anterior necrosis. A transthoracic echocardiogram revealed akinetic apex, akinesia of middle segments of the interventricular septum, anterior and lateral walls, Left Ventricular (LV) ejection fraction of 30% and a large apical mass suspicious for LV thrombus. The patient was admitted to the coronary care unit and taken to the Cath lab that showed total left anterior descending mid–segment occlusion. Due to the chronicity of the condition, the patient was recommended to optimal medical therapy. Suspecting LV thrombus, the patient began treatment with unfractionated heparin i.v. and subsequently imbricate therapy with enoxaparin s.c. and warfarin. Additionally, the patient underwent subcutaneous implantable cardioverter defibrillator (S–ICD) implantation for secondary prevention of sudden cardiac death. At echocardiographic follow–up one week after discharge, the apical mass remained unchanged despite warfarin therapy with INR at target. For this reason, the patient was recommended to perform a Cardiovascular magnetic resonance (CMR). Three months after S–ICD implantation, a CMR was performed which showed transmural areas of late gadolinium enhancement involving all apical segments and middle segments of the interventricular septum which allowed the diagnosis of a large intramyocardial dissecting hematoma (IDH) of left ventricle. IDH is a rare complication of ST–elevation myocardial infarction (STEMI), it is an unusual form of subacute cardiac rupture and could be fatal. It usually consists of a cavity or channels within the myocardium. Its prognosis varies according to its location, but generally apical IDH have more favorable outcome with a higher likelihood of spontaneous retraction. We report this case because the IDH is a diagnostic challenge and it represents an extremely rare and poorly described event in the literature.
SEVERE SYMPTOMATIC MITRAL REGURGITATION AFTER ANNULOPLASTY FAILURE: SUCCESSFUL TRANSCATHETER EDGE TO EDGE REPAIR
Authors: Coradello E , Zilio F , D‘Onghia G , Saraò E , Bonmassari R , Dallago M 
Published: May 2024

Abstract
Surgical mitral valve repair is the most common, feasible and preferred procedure to treat primary and secondary mitral regurgitation (MR). However, 30% of patients suffer from residue severe regurgitation 10 years after surgical intervention, resulting in a considerable number of Redo procedures. In elderly and high–risk patients with major comorbidities medical treatment is the only and often insufficient option for symptoms’ relief. Percutaneous Transcatheter Edge to Edge repair technique (TEER) with MitraClip system is emerging as an off–label valid alternative to successfully treat severe mitral regurgitation after surgical valvuloplasty failure. Transesophageal echocardiography (TEE) is essential in diagnosis, planning, intraprocedural device placement, and follow up. In the peculiar setting of failed annuloplasty, with small residual valve area, the main risk is the creation of a gradient across the mitral valve. We present two cases of severe mitral regurgitation after surgical annuloplasty with ring placement, carefully evaluated for TEER and successfully treated with this procedure: 1) a 79–year–old man presented with exertional dyspnea and orthopnea in the setting of previous surgical mitral Annuloplasty (2003) with a 32–mm Carpentier Ring. Transesophageal echocardiography demonstrated severe mitral regurgitation due to P2 prolapse and central V–shaped cut of the valve, mean diastolic gradient 1.8 mmHg. 2) a 83 year–old woman presented with dyspnea (NYHA functional class III) and severe mitral regurgitation after previous Annuloplasty with a 34–mm Edwards Ring and placement of Goretex artificial Chordae (2016). TEE showed prolapse of P2 and P3 leaflets, mean diastolic gradient 2.17 mmHg, valvular area 3.5 cmq. Both patients underwent transfemoral and transseptal implantation of one MitraClip device (XTw and XT, respectively) under Transesophageal echocardiography guidance with successful reduction of mitral regurgitation to mild level and symptoms relief. In the first case post procedural mean diastolic gradient was 3.7 mmHg, in the second case it was 3.16 mmHg.