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Aims: The aim of this study is to evaluate the effect of beta-blockers and angiotensin receptor blockers in reducing the aortic growth rate in children with bicuspid aortic valve (BAV)-related aortopathy and ascending phenotype., Methods: Consecutive paediatric patients (≤16 years) with BAV and ascending aorta (AsAo) dilation (z-score > 3) were enrolled in this observational retrospective cohort study. Patients receiving prophylactic treatment with either atenolol (0.5 to 1.0 mg/kg/daily) or losartan (0.7 to 1.4 mg/kg/daily) were compared with those who did not receive medical prophylaxis (control group). The primary outcome of interest was the annual rate of change in maximal AsAo diameter z-score in the treatment and control groups., Results: From a cohort of 1005 patients, 120 (mean age 11.3 ± 4.5 years, 82% males) fulfilled the inclusion criteria and were included in the study. Patients in the treatment and control group had similar age, sex, family history of BAV, BAV morphology, and baseline AsAo diameter. During a median follow-up of 7.1 years (interquartile range 3.8-10.2), no differences were observed in the annual growth rate of aortic diameter z-score between patients on treatment and controls. The prevalence of aortic diameter progression was similar in the treatment and control groups, and treatment with atenolol or losartan was not associated with a lower rate of aortic disease progression., Conclusions: The findings revealed no significant difference in the annual aortic growth rate between treated and untreated patients. Larger cohort studies or, ideally, randomized clinical controlled trials are needed to validate these findings., (Copyright © 2024. Published by Elsevier B.V.)

Background: A minority of patients with hypertrophic cardiomyopathy (HCM) presents advanced heart failure (HF) during their clinical course, in the context of left ventricular (LV) remodeling with reduced LV ejection fraction (LVEF), or of severe diastolic dysfunction without impaired LVEF. Aim of this study was to describe a multicentric end stage (ES) HCM population and analyze clinical course and outcome among its different phenotypes., Methods: Data of all HCM patients from 7 Italian referral centres were retrospectively evaluated. ES was diagnosed in presence of: LVEF <50% (ES-rEF) or NYHA functional class ≥II with severe diastolic dysfunction (ES-pEF). Outcomes were: HCM-related and all-cause mortality; combined arrhythmic events; advanced HF treatments., Results: Study population included 331 ES patients; 87% presented ES-rEF and 13% ES-pEF. At ES recognition, patients with ES-pEF were more commonly females, had more frequently NYHA III/IV, atrial fibrillation and greater maximal LV wall thickness. Over a median follow-up of 5.6 years, 83 (25%) patients died, 46 (15%) experienced arrhythmic events and (26%) 85 received advanced HF treatments. Incidence of HCM-related and all-cause mortality, and of combined arrhythmic events did not differ in ES-pEF and ES-rEF patients, but ES-pEF patients were less likely to receive advanced HF treatments. Older age at ES recognition was an independent predictor of increased HCM-related mortality (p = 0.01) and reduced access to advanced HF treatments (p < 0.0001)., Conclusions: Two different HCM-ES phenotypes can be recognized, with ES-pEF showing distinctive features at ES recognition and receiving less frequently advanced HF treatments. Older age at ES recognition has a major impact on outcomes., Competing Interests: Declaration of competing interest All Authors report no conflicts of interest related to the present work. All authors take responsibility for all aspects of the reliability and freedom from bias of the data presented and their discussed interpretation., (Copyright © 2024 Elsevier B.V. All rights reserved.)

Background and Aim: Atrial fibrillation (AF) is the most common sustained arrhythmia in hypertrophic cardiomyopathy (HCM) with significant effects on outcome. We aim to compare the left atrial (LA) diameter measurement with HCM-AF Score in predicting atrial fibrillation (AF) development in HCM., Methods: From the regional cohort of the Campania Region, Italy, 519 HCM patients (38% women, age45 ± 17 years) without history of AF, were enrolled in the study. The primary clinical endpoint was the development of AF, defined as at least 1 episode documented by ECG., Results: During the follow-up (mean 8 ± 6, IQ range 2.5-11.2 years), 99 patients (19%) developed AF. Patients who developed AF were more symptomatic, had higher prevalence of ICD implantation, had larger LA diameter, greater left ventricular (LV) maximal wall thickness and LV outflow tract obstruction (p < 0.01). Both LA diameter and HCM-AF score were higher in patients who developed AF versus those who did not (LA diameter 49 ± 7 versus 43 ± 6 mm; HCM-AF score 22 ± 4 versus 19 ± 4; p < 0.0001); however, ROC curve analysis demonstrated that LA diameter had a significant greater area under the curve than HCM-AF Score (p < 0.0001). At 5 years follow-up, a LA diameter > 46 mm, showed a similar accuracy in predicting AF development of HCM-AF score ≥ 22, which identifies patients at high risk to develop AF., Conclusion: Our analysis shows that LA diameter, a worldwide and simple echocardiographic measure, is capable alone to predict AF development in HCM patients., (Copyright © 2023 Elsevier Ireland Ltd. All rights reserved.)

Background: The R356W GLA variant is an ultra-rare cause of Fabry disease (FD). The clinical manifestations of adult patients carrying this variant have never been reported. This study aims to describe the clinical phenotype of the R356W GLA variant., Methods: The cohort consisted of consecutive patients diagnosed with FD and carrying the R356W GLA variant. An observational, longitudinal, retrospective cohort study design was used. Clinical, laboratory, and imaging data have been collected from the baseline evaluation to the last clinical review., Results: Six families, including 36 patients with FD and the R356W GLA variant (age 41.1 ± 15.9 years, 67% females), were evaluated. Eleven patients (31%) showed left ventricular hypertrophy (LVH), and 6 (17%) had chronic kidney disease (CKD). Patients with LVH were older (53.4 ± 8.5 vs. 35.7 ± 15.5, p-value 0.001), showed a higher prevalence of CKD (45% vs. 4%, p-value 0.002), and worse structural and functional cardiac parameters at echocardiographic evaluation. During a median follow-up of 42 (IQR 21-98) months, one patient experienced advanced atrioventricular block requiring pacemaker implantation and one end-stage renal disease requiring dialysis. No patients experienced major adverse events., Conclusion: This study suggests that the R356W GLA variant could be a late-onset FD-causing variant with incomplete penetrance and predominantly cardiac manifestations., Competing Interests: Declaration of Competing Interest The authors report no relationships that could be construed as a conflict of interest., (Copyright © 2023. Published by Elsevier B.V.)

Background: This study aims to evaluate the prevalence and the clinical significance of the right ventricular pulmonary arterial (RV-PA) uncoupling in patients with cardiac amyloidosis (CA)., Methods: The study population consisted in 92 consecutive patients with CA (age 71.1 ± 12.2 years, 71% males; 47% with immunoglobulin light chain (AL), 53% with transthyretin [ATTR]). A pre-specified tricuspid anulus plane systolic excursion on pulmonary arterial systolic pressure (TAPSE/PASP) value <0.31 mm/mmHg was used to define RV-PA uncoupling and to dichotomize the study population., Results: Thirty-two patients (35%) showed RV-PA uncoupling at baseline evaluation (15/44 [34%] AL and 17/48 [35%] ATTR). Patients with RV-PA uncoupling, in both AL and ATTR, showed worse NYHA functional class, lower systemic blood pressure, and more pronounced left ventricular and RV systolic dysfunction than those with RV-PA coupling. During a median follow-up of 8 months (IQR 4-13), 26 patients (28%) experienced cardiovascular death. Patients with RV-PA uncoupling showed lower survival at 12 months follow-up than those with RV-PA coupling (42.7% [95%CI 21.7-63.7%] vs. 87.3% [95%CI 78.3-96.3%], p-value<0.001). Multivariate analysis identified high-sensitivity troponin I values (HR 1.01 [95%CI 1.00-1.02] per 1 pg/mL increase; p-value 0.013) and TAPSE/PASP (HR 1.07 [95%CI 1.03-1.11] per 0.01 mm/mmHg decrease; p-value 0.002) as independent predictors of cardiovascular death., Conclusions: RV-PA uncoupling is common among patient with CA, and it is a marker of advanced disease and worse outcome. This study suggest that TAPSE/PASP ratio has the potential to improve risk stratification and guide management strategies in patients with CA of different etiology and advanced disease., (Copyright © 2023 Elsevier B.V. All rights reserved.)

Background: Little is known about prevalence and predictors of myocardial infarction with non-obstructive coronary arteries (MINOCA) in Fabry disease (FD) and hypertrophic cardiomyopathy (HCM). We assessed and compared the prevalence and predictors of MINOCA in a large cohort of HCM and FD patients., Methods: In this multicenter, retrospective study we enrolled 2870 adult patients with HCM and 267 with FD. The only exclusion criterion was documented obstructive coronary artery disease. MINOCA was defined according to guidelines. For each patient we collected clinical, ECG and echocardiographic data recorded at initial evaluation., Results: Overall, 36 patients had MINOCA during a follow-up period of 4.5 ± 11.2 years. MINOCA occurred in 16 patients with HCM (0.5%) and 20 patients with FD (7.5%; p &lt; 0.001). The difference between the 2 groups was highly significant, also after adjustment for the main clinical, ECG and echocardiographic variables (OR 6.12; 95%CI 2.80-13.3; p &lt; 0.001). In the FD population MINOCA occurred in 17 out of 96 patients with left ventricle hypertrophy (LVH, 17.7%) and in 3 out of 171 patients without LVH (1.7%; OR 12.0; 95%CI 3.43-42.3; p &lt; 0.001). At multivariable analysis, voltage criteria for LVH at ECG (OR 7.3; 95%CI 1.93-27.7; p = 0.003) and maximal LV wall thickness at echocardiography (OR 1.15; 95%CI 1.05-1.27; p = 0.002) maintained an independent association with MINOCA. No major significant differences were found in clinical, ECG and echocardiographic findings between HCM patients with or without MINOCA., Conclusions: MINOCA was rare in HCM patients, and 6-fold more frequent in FD patients. MINOCA may be considered a red flag for FD and aid in the differential diagnosis from HCM., (Copyright © 2022 Elsevier B.V. All rights reserved.)

Aims: To evaluate the role of bisoprolol to control symptoms and left ventricular outflow tract obstruction (LVOTO) in a consecutive cohort of adults with hypertrophic cardiomyopathy (HCM)., Methods and Results: In this retrospective study, patients with HCM with an LVOT gradient ≥50 mmHg after Valsalva manoeuvre and New York Heart Association (NYHA) class II-III symptoms were assigned to receive bisoprolol (starting at 1.25 mg daily). The initial dose was increased every two weeks to achieve the target in LVOT gradient <30 mmHg or the maximum tolerated dose. The primary endpoint was the achievement of a LVOT gradient <30 mmHg and ≥ 1 NYHA class improvement. The secondary endpoints were proportion of patients with LVOT gradient <30 mmHg or < 50 mmHg, proportion of patients with ≥1 NYHA class improvement, and change from baseline in LVOT gradient. Between December 2001 and December 2020, 92 patients were enrolled into the study. Sixteen (17%) patients on bisoprolol met the primary endpoint. Bisoprolol reduced the LVOT gradient to less than 30 mmHg in 33 (36%) patients, to less than 50 mmHg in 57 (62%), and improved NYHA class in 30 (33%). The mean reduction of LVOT gradient on bisoprolol was 28 (±14) mmHg and the percentage reduction was 42 (±21) %. In 35 (38%) patients, bisoprolol did not reduce the gradient to less than 50 mmHg requiring disopyramide and/or myectomy to achieve this goal., Conclusion: Treatment with bisoprolol was well-tolerated and effective in relieving obstruction and improving symptoms in a significant proportion of patients with symptomatic obstructive HCM., (Copyright © 2022 Elsevier B.V. All rights reserved.)

Background: This study sought to describe the characteristics and the natural course of left ventricular hypertrophy (LVH) in a well-characterized consecutive cohort of infants of diabetic mothers (IDMs)., Methods: Sixty consecutive IDMs with LVH have been retrospectively identified and enrolled in the study. All IDMs were evaluated at baseline and every 6 months until LV wall thickness regression, defined as the decrease of wall thickness measurement into the normal reference range for cardiac parameters (z-score > -2 and < 2). A comprehensive assessment was performed in those patients with diagnostic markers suggestive of a different cause and/or without significant reduction of the LVH during follow-up., Results: At 1-year follow-up, all IDMs showed a significant reduction of maximal wall thickness MWT (6.00 mm [IQR 5.00-712] vs. 5.50 mm [IQR 5.00-6.00], p-value <0.001; MWT-z-score: 4.86 [IQR 3.93-7.61] vs. 1.72 [IQR 1.08-2.85], p-value <0.001) compared to baseline, and all patients showed LV wall thickness regression or residual mild or moderate LVH (57%, 28%, and 12%, respectively), except 2 patients with persistent severe LVH, that after a comprehensive clinical-genetic assessment were diagnosed as Noonan syndrome with multiple lentigines. At multivariate analysis, MWT was negatively associated with LV wall thickness regression at 1-year follow-up (MWT-mm: OR 0.48[0.29-0.79], p-value = 0.004; MWT-z-score: OR 0.71[0.56-0.90], p-value = 0.004)., Conclusions: LVH in IDMs represents a benign condition with complete regression during the first years of life. In those patients without LV wall thickness regression, combined with clinical markers suggesting a specific disease, a complete work-up is required for a definite diagnosis., (Copyright © 2021 Elsevier B.V. All rights reserved.)

Introduction: This study aimed to validate the increased wall thickness (IWT) score, a multiparametric echocardiographic score to facilitate diagnosis of cardiac amyloidosis (CA), in an independent population of patients with increased LV wall thickness suspicious for CA., Methods: Between January 2019 and December 2020, 152 consecutive patients with increased LV wall thickness suspicious for CA were included. For all patient, the multiparametric echocardiographic score (IWT score) was calculated. To validate the diagnostic accuracy of an IWT score ≥ 8 to predict the diagnosis of CA, sensibility (Se), specificity (Sp), positive predictive value (PPV), negative predictive value (NPV), and predictive accuracy (PA) were calculated., Results: Among the 152 patients included in the study, 50 (33%) were diagnosed as CA, 25 (16%) had severe aortic stenosis, 25 (16%) had hypertensive remodeling, and 52 (34%) had hypertrophic cardiomyopathy. Among the 50 and 102 patients with and without CA, 19 (38%) and 1 (1%) showed an IWT score ≥ 8, respectively. Overall, the diagnostic accuracy of an IWT score ≥ 8 for the diagnosis of CA in our population was the following: Se 38% (95%CI 25-53%); Sp 99% (95%CI 95-100%); PPV 95% (95%CI 72-99%); NPV 77% (95%CI 73-80%); PA 79% (95%CI 72-85%)., Conclusions: This study reports the first external validation of the IWT score for the diagnosis of CA in patients with increased LV wall thickness. A score ≥ 8 showed a high Sp, PPV and PA, suggesting that the IWT score can be used to identify CA patients in those with increased LV wall thickness., (Copyright © 2021 Elsevier B.V. All rights reserved.)

Introduction: We sought to determine prevalence and predictive accuracy of clinical markers (red flags, RF), known to be associated with specific systemic disease in a consecutive cohort of patients with hypertrophic cardiomyopathy (HCM)., Methods: We studied 129 consecutive patients (23.7 ± 20.9 years, range 0-74 years; male/female 68%/32%). Pre-specified RF were categorized into five domains: family history; signs/symptoms; electrocardiography; imaging; and laboratory. Sensitivity (Se), specificity (Sp), negative predictive value (NPV), positive predictive value (PPV), and predictive accuracy of RF were analyzed in the genotyped population., Results: In the overall cohort of 129 patients, 169 RF were identified in 62 patients (48%). Prevalence of RF was higher in infants (78%) and in adults >55 years old (58%). Following targeted genetic and clinical evaluation, 94 patients (74%) had a definite diagnosis (sarcomeric HCM or specific causes of HCM). We observed 14 RF in 13 patients (21%) with sarcomeric gene disease, 129 RF in 34 patients (97%) with other specific causes of HCM, and 26 RF in 15 patients (45%) with idiopathic HCM (p < 0.0001). Non-sarcomeric causes of HCM were the most prevalent in ages <1yo and > 55yo. Se, Sp, PPV, NPV and PA of RF were 97%, 70%, 55%, 98% and 77%, respectively. Single and clinical combination of RF (clusters) had an high specificity, NPV and predictive accuracy for the specific etiologies (syndromes/metabolic/infiltrative disorders associated with HCM)., Conclusions: An extensive diagnostic work up, focused on analysis of specific diagnostic RF in patients with unexplained LVH facilitates a clinical diagnosis in 74% of patients with HCM., (Copyright © 2019 Elsevier B.V. All rights reserved.)

Background: Acute myocardial infarction (AMI) patients are at increased risk of death and recurrent ischemic events. We aimed to elaborate a risk score, based on the PEGASUS-TIMI 54 criteria, to predict mortality and non-fatal AMI in AMI patients., Methods: We retrospectively analyzed two prospectively collected AMI cohorts. We calculated a cut-off for the developed score and investigated its 1-year prognostic power in the derivation cohort (n = 1257). We externally validated our score in 913 AMI patients with a longer follow-up., Results: In the derivation cohort, the area under the curve of the score for the primary endpoint (1-year death and non-fatal AMI) was 0.70 (95% CI 0.65-0.76; P < 0.0001) and a cut-off of 6 was identified. The primary endpoint incidence in patients with a score above and below the cut-off was 12% and 3% (P < 0.001) in the derivation cohort and 16% and 6% in the validation cohort (P < 0.001). At multivariate analysis, the HR for the primary endpoint associated with a score ≥ 6 was 4.45 (P < 0.0001) in the derivation cohort and 2.86 (P < 0.0001) in the validation cohort. One-year major bleeding rate was low (<0.2% overall) and similar between risk groups. The prognostic performance of the score cut-off persisted beyond the first year after AMI in the validation cohort, maintaining a similar risk for death and non-fatal AMI (HR 3) at every following year., Conclusions: Our score, based on the PEGASUS-TIMI 54 criteria, may identify AMI patients at high risk of recurrent ischemic events, who might benefit from thorough preventive strategies., (Copyright © 2018 Elsevier B.V. All rights reserved.)

Objectives: We evaluated the rate of use, clinical predictors, and in-hospital outcome of renal replacement therapy (RRT) in acute myocardial infarction (AMI) patients., Methods: All consecutive AMI patients admitted to the Coronary Care Unit between January 1st, 2005 and December 31st, 2015 were identified through a search of our prospectively collected clinical database. Patients were grouped according to whether they required RRT or not., Results: Two-thousand-eight-hundred-thirty-nine AMI patients were included. Eighty-three (3%) AMI patients underwent RRT. Variables confirmed at cross validation analysis to be associated with RRT were: admission creatinine >1.5mg/dl (OR 16.9, 95% CI 10.4-27.3), cardiogenic shock (OR 23.0, 95% CI 14.4-36.8), atrial fibrillation (OR 8.6, 95% CI 5.5-13.4), mechanical ventilation (OR 22.6, 95% CI 14.2-36.0), diabetes mellitus (OR 4.8, 95% CI 3.1-7.4), and left ventricular ejection fraction <40% (OR 9.1, 95% CI 5.6-14.7). The AUC for RRT with the combination of these predictors was 0.96 (95% CI 0.94-0.97; P<0.001). In-hospital mortality was significantly higher in RRT patients (41% vs. 2.1%, P<0.001). Oligoanuria as indication for RRT (OR 5.1, 95% CI 1.7-15.4), atrial fibrillation (OR 4.3, 95% CI 1.6-11.5), mechanical ventilation (OR 20.8, 95% CI 6.1-70.4), and cardiogenic shock (OR 12.9, 95% CI 4.4-38.3) independently predicted mortality in RRT-treated patients. The AUC for in-hospital mortality prediction with the combination of these variables was 0.92 (95% CI 0.87-0.98; P<0.001)., Conclusions: Patients with AMI undergoing RRT had strikingly high in-hospital mortality. Use of RRT and its associated mortality were accurately predicted by easily obtainable clinical variables., (Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.)

Objectives: Pericardial effusion is characterized by progressive accumulation of fluid within the pericardial space, resulting in increased intra-pericardial pressure and compression of the heart. As B-type natriuretic peptide (BNP) is secreted by the ventricles in response to increased myocardial stretch, we hypothesized that pericardial effusion, as well as its resolution, might influence BNP plasma levels., Methods: We prospectively measured, in 146 consecutive patients with pericardial effusion, BNP plasma levels at baseline, soon after, and 24h after pericardiocentesis. A scoring system based on 7 clinical and echocardiographic parameters was developed, and patients were classified according to the number of variables as having low (0-2), intermediate (3-4), or high (5-7) severity score., Results: Out of the 146 patients, 42 (29%) had normal values (<100pg/ml), whereas 104 (71%) had high BNP values at baseline. In the whole population, baseline BNP levels significantly decreased as the severity score increased (r=-0.21; P=0.01). 24h after pericardiocentesis, a significant increase in BNP was observed in patients with intermediate (P=0.004) score and with high (P<0.001) severity score; no increase occurred in low score patients (P=0.56). The higher was the severity score, the steeper was the increase in BNP through the three time-points considered (P=0.04)., Conclusions: The results of the present study show that BNP plasma levels are suppressed in the presence of severe pericardial effusion, and that they rise after pericardiocentesis. Future studies should investigate the role of BNP in assisting clinicians in the decision-making process of pericardial fluid drainage., (Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.)

The effect of systolic and diastolic overload of the left ventricle on the T wave was studied in 86 patients with pure aortic stenosis and in 82 patients with pure aortic insufficiency documented by hemodynamic investigation. All patients had hemodynamically significant, chronic isolated aortic valve disease with electrocardiographic evidence of left ventricular hypertrophy (Sokolow index greater than or equal to 45 mm). All had undergone selective coronary angiography. Flattened or negative T waves were present in 44 patients with aortic stenosis (51%) and in 66 (80%) with aortic incompetence. Inversion of the T wave in left ventricular leads was unrelated to the presence of ventricular conduction disturbances or to coronary artery disease or to low cardiac index. It was significantly related to older age (P = 0.0001) and, in patients with aortic incompetence, to the end-diastolic volume (P = 0.04). Digitalis intake was a nonsignificant (P = 0.10) independent variable. These findings suggest that patients with aortic stenosis cannot be distinguished from patients with aortic incompetence by the electrocardiogram and that the theory of Cabrera and Monroy is not valid in this set of patients.

Up to the end of 1982, reoperation for dehiscence of an aortic prosthesis was necessary in 5% of patients operated on for primary aortic valve replacement in the previous decade at the University of Padova Cardiac Surgery Center. This complication occurred early (median time to diagnosis 4 months) and was associated with an elevated 30-day operative mortality (27%, 70% CL 19-37%). This is probably (P = 0.09) related to preoperative heart failure. The follow-up of the traced surviving patients (92%) indicates a continuing poor prognosis with a 6-year survival rate of only 13.5% (70% CL 5.0-30%). All the events were cardiac related and directly or indirectly connected with the persistence or recurrence of dehiscence that was observed in 72% of the cases. In the face of these results, a retrospective study has been performed to identify, on the basis of the available data, the subsets of patients more prone to develop this complication. Our results suggest that a significant increased risk (P less than 0.001) can be identified in patients presenting with bacterial endocarditis (12.2% rate), in patients with concomitant aneurysm of the ascending aorta (10.9%) and in patients with degenerative regurgitation or severe calcifications of their native valve, with rates of 7.0 and 6.0 respectively. In these situations particular care is required to avoid undue stress on the annular tissue. We also suggest the use of buttressed interrupted sutures.