bluuebunny/crossref_metadata_2025_split huggingface dataset:
C80 GENETIC AND NON–GENETIC DETERMINANTS OF CLINICAL VARIABILITY IN A FAMILIAL CASE OF HYPERTROPHIC CARDIOMYOPATHY WITH HETEROZYGOUS PATHOGENIC MYPBC3 MUTATION
Authors: Moscardelli S , Santangelo G , Rusconi D , Bursi F , Micaglio E , Guazzi M 
Published: May 2023

Abstract
Mutations in the MYBPC3 gene, which encodes myosin C–binding protein C (cMyBP–C) are among the main causes of hypertrophic cardiomyopathy (HCM). Truncating mutations are recognized as causative in many HCM patients and recently, even missense mutations (e.g E258K mutation) appear to be clinically related to the disease. E258K is one of the most common MYBPC3 mutations, with a prevalence of 15% in Italians. We report a family case, with father and son affected by HCM in which where this mutation was identified thanks to the NGS. HCM in the father was diagnosed at the age of 70 after several episodes of atrial fibrillation and after a myocardial infarction. The son, a sportsman, had a very early and severe presentation of HCM in the absence of manifest clinical signs. The same E258K mutation was also found in the proband son, in the absence of clinical signs of HCM. Given the diversity of the carrier phenotypes, the molecular analysis of the proband was extended beyond rare variants and we found a common substitution in the DES gene, (encoding desmin) which, acting as an unfavourable modifier, could partly explain the different clinical presentation of HCM. Probably also the intense physical activity carried out by the proband contributed to the phenotype severity. The father, asymptomatic for a much longer period and with a lower hypertrophy grade compared to the proband, may have benefited from a less intense physical activity and from the absence of the DES polymorphism. To date, the role of physical exercise is widely debated: on the one hand, a regular intense physical training could worsen hypertrophy, fibrosis and trigger arrhythmias, on the other hand however, a sedentary lifestyle predisposes to obesity and other cardiovascular risk factors which induce diseases with a worse prognosis than HCM itself. Nowadays 70% of patients with HCM are overweight, and more than 50% are below the minimum recommended exercise threshold. In addition, there is growing evidence that competitive sports are safe and could have beneficial effects in asymptomatic low–risk HCM patients. This case study suggests that the decision–making process must include both genotypic and phenotypic characterization of patients, as well as the evaluation of the causative mutation pathogenicity and of co–existing genetic modifiers.
C82 CARDIOMYOPATHIES AND GENETICS: ACTIVATION OF A SHARED PATH. INSIGHTS FROM CUNEO HOSPITAL
Authors: Coppini L , Coletta G , Rossini R 
Published: May 2023

Abstract

Introduction
In the last few years, genetic investigation has become an active part of the diagnostic and therapeutic pathway of cardiological patients with cardiomyopathies. Genetic investigation assumes a key role in the clinical–decision–making process of the proband acquiring a potential role in changing clinical action. Patients referred for genetic screening are affected by hypertrophic, arrhythmogenic and dilated cardiomyopathy. In the dilated form it is now a well–established notion that some mutations are associated with increased arrhythmic risk, regardless of the ejection fraction. This link was implemented by the 2022 ESC guidelines on ventricular arrhythmias, these patients can in fact benefit from a more aggressive therapeutic approach for the purpose of preventing sudden death.

Methods and results
In 2022 a diagnostic process was activated in collaboration with the genetics laboratory. Twenty–two patients underwent genetic examination and genetic testing. Of these, 61% were patients with hypertrophic cardiomyopathy, 22% with dilated cardiomyopathy, 11% with arrhythmogenic cardiomyopathy and 6% with Fabry disease. Two HCM patients have mutations in the MYBPC3 gene. A patient with Fabry has an exonic mutation in the GLA gene associated with the late onset phenotype. Two patients have a negative NGS panel and one patient has a mutation of uncertain significance (VUS) in TTN. In the remaining genetic analysis is ongoing.

Conclusions
We believe, as clinical cardiologist who deal with the field of cardiomyopathies, in the importance to acquire an integrated vision where genetic diagnosis is added alongside the traditional tools of cardiological expertise, as a risk stratification tool and as an additional element of the decision–making process.
C87 IMPACT OF THE COVID 19 PANDEMIC ON ADHERENCE TO PATIENT CARE PATHWAYS AFTER ACUTE CORONARY SYNDROME WITH ST ELEVATION (STEMI) IN FRIULI–VENEZIA–GIULIA (FVG). REGIONAL DIAGNOSTIC THERAPEUTIC PLANS INDICATORS
Authors: Leiballi E , Di Chiara A , Werren M , Riccio A , Valente M , Pavan D 
Published: May 2023

Abstract

Background
In recent years, the treatment of STEMI has made significant progress which has led to an increase in survival and age of patients who have become chronic heart disease. Management is a major problem especially in the post–acute and chronic phases, previously considered stable. Post–hospital morbidity and mortality are increased particularly in patients with high residual risk.

Methods
The purpose of this work is to evaluate adherence to patient care pathways after STEMI in FVG from 2018 to 2021. This evaluation must take into account the restrictive measures adopted since March 2020 to contain the COVID 19 pandemic. The data was collected by the Regional Health Agency (ARCS) thanks to the launch of the Heart Network and the regional Diagnostic Therapeutic Plans (PDTA). The indicators of care pathways were: cholesterol–lowering prescription at 30 days; antiplatelet prescription after 30 days; beta–blocker prescription after 30 days; cardiological visit 2 months after discharge; persistence of statin therapy 1 year after discharge; LDL dosage 1 year after discharge; target LDL 1 year after discharge; nursing counseling 1 year after discharge.

Results
Patients with STEMI in FVG in 2018 were 830, in 2019 were 834, in 2020 were 772 and in 2021 were 782. The populations do not differ significantly in terms of age and gender (with a predominance of males). Observing the data on the management of patients in the post–acute phase there are no significant differences between the populations. However, if we analyze the data indicative of the management of patients in the chronic phase, the results differ in the populations. The persistence of statin therapy at 1 year is 82.8% in 2018 and it is 80.4% in 2019 while it is 69.7% in 2020 and 62.2% in 2021. Nursing counseling at 1 year is 60.8% in 2018, 62.5% in2019 while it is 37% in 2020 and 51.9% in 2021.

Conclusions
The COVID 19 pandemic has impacted the post–STEMI patient care process in FVG not so much in the post–acute phase but in the chronic phase. According to international guidelines, Cardiology Rehabilitation (CR) is strongly recommended in STEMI. No treatment in heart disease has stronger scientific evidence or a significantly greater impact on survival. Despite this, the CR facilities in FVG have not been strengthened in recent years, on the contrary they have suffered more significantly from the COVID–related restrictions and the depletion of resources.
C89 CARDIOLOGICAL HYPERTENSIVE EMERGENCIES: REAL WORD DATA COMPARED TO GUIDELINES INDICATIONS
Authors: Maloberti A , Andrian E , Leidi F , Massimiliano M , Galasso M , Colombo V , Giannattasio C 
Published: May 2023

Abstract

Background
The 2018 ESH guidelines have revised the therapeutic goals of cardiological Hypertensive Emergencies (HE) with an indication for a more intensive (target &lt; 140/90 mmHg) and rapid (immediate) Blood Pressure (BP) reduction. Cardiac acute organ damage during HE includes acute myocardial infarction, pulmonary edema, unstable angina pectoris and aortic dissection. However, how much these indications have been applied in clinical practice to date it’s unknown.

Aims
The first purpose of our study is to analyze the prevalence and clinical characteristics of cardiological HE in our institution. The second purpose is to compare the year before the release of the 2018 guidelines (2017) with the subsequent years (2019) trying to verify adherence to guidelines.

Methods
This is a single–center retrospective study conducted at the Niguarda Hospital. All patients aged ≥ 18 years with Systolic BP≥ 180 mmHg and/or a Diastolic BP ≥ 120 mmHg with Cardiological Emergency were enrolled. From the Emergency Department (ED) data clinical, anamnestic, blood pressure, symptoms, drug treatment and target achievement were registered.

Results
Patients with BP &gt; 180/120 mmHg in 2017 were 706 out of a total of 73795 accesses (0.96%) and 601 over 67273 (0.89%) in 2019. 246 (34.84%) in 2017 were HE of which 144 (58.53%) were cardiological: aortic dissection 1 (0.69%), acute coronary syndrome 52 (36.11%), acute pulmonary edema 35 (24.30%), cardiac decompensation 91 (63.19%). During 2019 similar figures were founded with 286 (47.58%) HE of which 286 (47.58%) were cardiological: aortic dissection 2 (1.43%), acute coronary syndrome 43 (30.93%), acute pulmonary edema 20 (14.39%), cardiac decompensation 76 (54.68%). The reduction in BP obtained in ED was significantly greater in 2017 than in 2019 (44.7±31.4 vs 35.4±24.5 mmHg, p = 0.011) with a lower target reaching in 2019 (28.9 vs 51.4%, p&lt;0.001). Pulmonary edema is the cardiological HE on which a greater pressure reduction is obtained and therefore in which the target set by the guidelines is more frequently reached.

Conclusions
The recommendation for a more intense and rapid BP reduction in cardiological HE seems to be not accepted from ED clinicians that persist to reduce BP accordingly to previous guidelines.
P3 EXERTIONAL SYNCOPE AND VENTRICULAR ARRHYTHMIA IN A PATIENT WITH CARDIAC AMYLOIDOSIS
Authors: Fede G , Guccione N , Abate G , Belluardo P , Scollo V , Sulsenti G , Ficili S 
Published: May 2023

Abstract
Systemic amyloidosis is a multisystem disorder caused by the misfolding, aggregation, and deposition of certain proteins in various organs and tissues. Cardiac involvement is common and worsens the prognosis. Atrial fibrillation is the most frequent arrhythmia in cardiac amiloidosis (CA), but many cases of ventricular arrhythmias (VA) and sudden cardiac death (SCD) have been described. We present a case of a 64–year–old man admitted following exertional syncope occurred after climbing a flight of stairs. His medical history included left gonarthrosis and surgery for right carpal tunnel syndrome one year before. Physical examination did not revealed signs of heart failure. A 12–lead electrocardiogram (ECG) showed a pseudoinfarction pattern with QS waves in V2 and V3 leads and low voltage in all limb leads. Routine blood tests revealed NT–pro–BNP 3436 pg/ml(n.v.0–125) and high–sensitive troponin T 67 pg/ml(n.v.&lt; 58). A trans–thoracic echocardiogram showed left ventricle (LV) concentric thickening wall with granular and sparkling pat[1]tern, mild reduced ejection fraction, reduced global longitudinal strain with apical sparing, grade 3 diastolic disfunction, biatrial enlargement, mild mitral regurgitation, right ventricle free wall thickening (8 mm), mild reduced TAPSE, and mild pericardial effusion. Cardiac magnetic resonance (CMR) confirmed ventricular wall thickening with evidence at T1 mapping of interstitial infiltration more evident in the septum and inferior–lateral wall with apical savings. A total body 99mTc–HDP scintigraphy showed cardiac uptake with intensity similar to bone signal (Perugini Score 2) suggesting ATTR cardiac amyloidosis. Both kappa and lambda concentrations were normal. The genetic testing did not reveled mutations in the TTR gene. We concluded for a diagnosis of ATTR wild–type CA. The Holter ECG monitoring registered numerous ventricular ectopic beats and an episode of non–sustained ventricular tachycardia. A coronary angiography ruled out coronary artery disease. In consideration of the clinical–instrumental picture an ICD was implanted.

Conclusions
CA is still underdiagnosed. VA and SCD may further complicate the prognosis. Early diagnosis and adequate stratification of the arrhythmic risk are essential to ensure patients the best therapeutic strategies.
P6 A HEART OF STONE: A CASE OF APOLIPOPROTEIN A–I CARDIAC AMYLOIDOSIS TREATED WITH HEART TRANSPLANT
Authors: Abete R , Iacovoni A , Vittori C , Sebastiani R , Terzi A , Grazioli L , Lorini F , Arbustini E , Senni M 
Published: May 2023

Abstract
A 56–year–old woman was referred to our Unit for advanced heart failure refractory to pharmacological therapy with poor functional status (NYHA class IV, INTERMACS profile 4–5). She had a history of restrictive and hypokinetic cardiomyopathy secondary to autosomal dominant hereditary Apolipoprotein A–I (APOA1) amylodosis caused by Leu75Pro mutation, detected both in her sister and brother. An ICD was placed for cardiac arrest due to ventricular fibrillation. She was hospitalized in our unit to evaluate non–conventional heart failure therapies. ECG showed a sinus rhythm with low QRS voltages and pseudo–infarct pattern with QS waves in V1 towards V3. Laboratory testing revealed a BNP of 625 ng/L, creatinine of 1.47 mg/dL with an estimated GFR of 40 ml/min/1.73m2. Transthoracic echocardiography showed a non–dilated left ventricle (LVEDD 50 mm, LVEDV 70 ml/m2) with concentric hypertrophy (IVS/PW 15/15 mm) and granular sparkling myocardium, global hypokinesia with severely reduced left ventricular ejection fraction (LVEF 28%) and restrictive filling. The right ventricle was dilated with reduced function (TAPSE 12 mm). Moderate mitral and tricuspid regurgitation were also reported, with estimated systolic pulmonary pressure of 40 mmHg. Right heart catheterization showed a RAP of 14 mmHg, mPAP of 31 mmHg, PCWP of 25 mmHg, PVR of 2.2 wood units and a CI of 1.49 l/min/m2; after reversibility testing with intravenous nitrate, mPAP fell to 25 mmHg, PCWP was 18 mmHg, PVR 1.86 WU and CI improved to 1.94 l/min/m2. She was dependent on inotropes (dobutamine 4 mcg/Kg/min). In multidisciplinary team, LVAD placement as a bridge was excluded for severe right ventricular dysfunction and she was listed for heart transplant in 2A emergency status. Notably, screening colonoscopy showed polypoid amyloid deposition in the bowel. Macroscopic examination of explanted heart showed thickening of both ventricles, valves and papillary muscles; histopathologic examination revealed intramural amyloid accumulation. Immunohistochemistry confirmed that amyloid deposits were specifically stained with an anti–APOA1 antibody. Postoperative course was characterized by necessity of hemodialysis, which was stopped in day 26. No amyloidosis recurrence was detected at endomyocardial biopsies up to 6 months. In selected patients with cardiac amyloidosis, heart transplantation can be an effective therapeutic option with outcomes similar to those transplanted for other causes of heart failure.
P8 INTERMUSCULAR TWO–INCISION TECHNIQUE FOR IMPLANTATION OF THE SUBCUTANEOUS IMPLANTABLE CARDIOVERTER DEFIBRILLATOR: 3–YEAR FOLLOW–UP
Authors: Migliore F , Pittorru R , Giacomin E , De Lazzari M , Bertaglia E , Sottini S , Iliceto S 
Published: May 2023

Abstract

Purpose
The aim of the present study was to evaluate the outcome of patients underwent subcutaneous implantable cardioverter defibrillator (S–ICD) implantation with the intermuscular (IM) two-incision technique during 3–year followup.

Methods
The study population consisted of 105 consecutive patients (79 male; median 50 [13-77] years) underwent S–ICD implantation with the IM two-incision technique. The composite primary end point of the study consisted of device–related complications and inappropriate shocks (IAS). Secondary end points included the individual components of the primary end point, death from any cause, appropriate therapy, major adverse cardiac events, hospitalization for heart failure, heart transplantation.

Results
According to the PRAETORIAN score, the risk of conversion failure was classified as low in 99 patients (94.3%), intermediate in 6 (5.7%).Ventricular fibrillation was successfully converted at ≤65 J in 97.4% of patients. During a median follow–up of 39 (16–53) months, 10 patients (9.5%) experienced device–related complications and 9 (8.5%) patients reported inappropriate shocks (IAS). Leadassociated complications were the most common (5 patients, 4.7%), including 2 cases of lead failure (1.9%). Pocket complications were reported in 2 patients (1.9%). Extra–cardiac oversensing (3.8%) represented the leading cause of IAS. No T–wave oversensing episodes were recorded. Twelve patients (11.4%) experienced appropriate shocks. Eight patients (7.6%) died during follow–up. IAS or device–related complications did not impact on mortality.

Conclusions
The overall device–related complications and IAS rates over 3 years of follow–up were 9.5% and 8.5%, respectively. According to our findings, the IM two–incision technique allows for optimal positioning of the device achieving a low PRAETORIAN score with a high conversion rate. IM two–incision technique allows low incidence of pocket complications, shifting the type of complications towards lead–related complications, which represent the most common complications. The IM two–incision technique would not seem to impact the occurrence of IAS. Management of complications are safe without impact on the outcome.
P10 REAL–WORLD SINGLE CENTER EXPERIENCE WITH THE WEARABLE CARDIOVERTER DEFIBRILLATOR: SEX DIFFERENCES IN RISK STRATIFICATION FOR SUDDEN CARDIAC DEATH
Authors: Bolognesi M , Rossi L , Biagi A , Bricoli S , Sticozzi C , Comastri G , Aschieri D 
Published: May 2023

Abstract

Background
Previous studies established a role for the wearable cardioverter defibrillator (WCD) in patients with transient risk os sudden cardiac death (SCD). The WEARIT–II Registry highlighted an higher burden of ventricular and atrial arrhythmic events in women than in men, in spite of a similar ICD implantation rates.

Objectives
We aimed to describe the sex differences in WCD use and compliance. Moreover we reviewed the rate of cardiac events detected with WCD and the rate of ICD implantation in women in a real–world single center experience.

Methods and results
Between August 2017 and June 2022, 60 consecutive patients receiving a WCD at Piacenza Hospitals were retrospectively included in this analysis: mean age 66.9±11.9 years, 56.6% with ischaemic cardiomyopathy, 38.3% with dilated cardiomyopathy, 5% after implantable cardioverter–defibrillator explant. 8 patients were women (13.3%). Women and men presented similar clinical characteristics. Median WCD usage period and median daily wear time were not different between women and men (49.6±25.3 vs 51.8±32.8 days, 23.6±0.3 vs 23.1±1.7 hours, respectively). No ventricular fibrillation was detected in the monitoring period. Non–sustained ventricular tachycardia and atrial arrhythmias were similar between women and men. However, ICD implantation rate at the end of WCD use was significantly lower in women than and men (25% vs 61.5%; p&lt; 0.01).

Conclusions
In this real word analysis WCD was underused in women despite a nice compliance. A similar burden of ventricular and atrial arrhythmic events were detected, with a lower ICD implantation rate at the end of WCD use in women than in men.
P11 RISK STRATIFICATION IN ATHLETES: AN "IRREDUCIBLE" MASTER ATHLETE
Authors: Pescatore V , Brugin E , Compagno S , Zanella C , Giada F 
Published: May 2023

Abstract
We describe the clinical case of a 48–year–old master athlete, runner (marathon runner), always asymptomatic at rest and during effort, with a family history of ischemic heart disease and no other known cardiovascular risk factors. On the occasion of the pre–partecipation screening visit, he presented an altered baseline electrocardiogram with low peripheral voltages and T wave inversion in V1–V5 leads and inferior leads. The echocardiogram documented morphofunctional alterations in the right ventricle and raises the suspicion of arrhythmogenic cardiomyopathy, later confirmed by cardiac magnetic resonance with Gadolinium. During effort, even repetitive premature ventricular beats LBBB with superior axis morphology appeared. Also, torsade de pointes episode with presyncopal sensation. He was hospitalized with a diagnosis of threatening arrhythmias in right ventricular arrhythmogenic heart disease. Coronary angiography was negative. We recommend beta–blocker therapy, genetic analysis, screening of family members. A subcutaneus defibrillator has been placed. The patient, against the advice of the Physicians, continued to train even at high intensity until he has a syncopal episode with correct intervention of the device on ventricular fibrillation. Since the patient has requested specific indications to continue training independently, an exercise test in beta–blocker therapy is repeated and the training thresholds are calculated. The case of this master athlete highlights the issue of the difficulty of screening the master athlete with frequent omission of symptoms (the patient already had syncopal/presyncopal episodes at home which he had omitted), poor adherence to therapeutic indications, possible negative effects of high intensity physical training on the evolution of arrhythmogenic cardiomyopathy.
P14 CT SCAN DERIVED PARAMETERS PREDICT LEFT VENTRICLE OBSTRUCTION AFTER TAVI
Authors: Vella C , Ferri L , Ancona M , Bellini B , Russo F , Romano V , Ghizzoni G , Gentile D , Paci G , Esposito A , Montorfano M 
Published: May 2023

Abstract

Introduction
Mid Ventricular (MVO) and Left Ventricular Outflow Tract Obstruction (LVOTO) after Trans–catheter Aortic Valve Implantation (TAVI) have been previously described and are associated with adverse outcome. Pre–procedural identification of patient at risk of MVO and LVOTO after TAVI may help pre–operative risk stratification and patient selection and facilitate intra–operative management, finally improving clinical outcomes. This study aims to identify CT–scan and Echocardiographic predictors of Left Ventricular Obstruction (LVO), defined as the composite of MVO and LVOTO.

Methods
We retrospectively reviewed pre–operative CT scans and Trans–Thoracic Echocardiography of 349 patients treated with TAVI at our Centre between January 2019 and December 2021. Correlations between post–operative development of MVO and LVOTO and pre–operative Echocardiographic and CT scan measurements were tested.

Results
LVO occurred in 16.3% of patients after TAVI. At univariate analysis clinical factors associated to LVO were female gender (OR=2.2, p=0.006) and body surface area (OR=0.19, p=0.006); pre–procedural echocardiographic parameters identified were end–diastolic–diameter (OR=0.89, p&lt;0.001) and left ventricular ejections fraction (OR=1.09, p&lt;0.001), whereas pre–procedural CT scan measurements associated to LVO were intraventricular septum to leaflet coaptation length (SLCL; OR=0.87, p&lt;0.001) and left ventricular systolic area (OR=0.9, p&lt;0.001). After multivariate analysis, only left ventricular ejection fraction (OR=1.1, p&lt;0.001) and the CT scan derived parameters SLCL (OR=0.9, p&lt;0.001) and left ventricular area (OR=0.9; p&lt;0.001) were able to predict LVO after TAVI.

Conclusions
Left ventricle obstruction (LVOTO + MVO) after TAVI can be predicted by CT scan derived parameters. Pre–procedural identification of patients at risk may help intraprocedural and postprocedural management, thus improving clinical outcomes.