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The inherited connective tissue disorders (Marfan syndrome, Loeys-Dietz syndrome [LDS], and Ehlers-Danlos syndrome [EDS]) involve connective tissue of various organ systems. These pathologies share many common features, nonetheless compared to Marfan syndrome, LDS' cardiovascular manifestations tend to be more severe. In contrast, no association is reported between LDS and the presence of ectopia lentis. The EDS are currently classified into thirteen subtypes. There is substantial symptoms overlap between the EDS subtypes, and they are associated with an increased incidence of cardiovascular abnormalities, such as mitral valve prolapse and aortic dissection.

Introduction Echocardiographic evaluation of severe aortic stenosis (SAS) is is important to guide the therapeutic approach but often challenging. Recent studies have demonstrated that the ratio of acceleration time/ejection time (AT/ET) is a simple and reproducible echocardiographic parameter that integrates aortic stenosis severity evaluation and adds information on patient's prognosis. Aim The aim of the study is to investigate the role of the ratio of acceleration time (AT) and ejection time (ET) and its major determinants in severe aortic stenosis . Methods Consecutive echocardiograms of patients with severe AS referred to our center were analyzed offline using Tomtec Arena (Tomtec, Untershlei heim, Germany). AT was measured from the start of the CW Doppler aortic wave, to the peak of the aortic jet. ET was calculated from the same starting point, to the end of the CW Doppler aortic wave. Results A total of 135 patients with severe aortic stenosis formed the study cohort: patients with AT/ET below the median value of 0.35 (vs. higher) presented lower LVEDV (60 vs. 71 ml/mq; p 0.014), left ventricle mass index (116 vs 130 g/m2; p 0.035) and higher LVEF (58 vs 50%; p 0.001), GLS (- 14 vs - 12%; p 0.025), FAC (46 vs 41%; p 0.01), SBP (141 vs 131 mmHg; p 0.003). At multivariable analysis the major AT/ET determinants were systolic arterial pressure and bi-ventricular performance parameters. The following nested regression were created: the first inclusive of systolic arterial pressure (PAS), fractional area change (FAC), left ventricular mass indexed (LVMI), global longitudinal strain (GLS) (R2=0.48 p Conclusion Our study demonstrated that AT/ET ratio relates quite well with LV performance in the context of SAS. An high ACT/ET ratio tends to be associated with a poor bi-ventricular performance and LV negative remodeling. It is possible that this simple parameter in the next future could help in staging the disease among SAS patients.

PURPOSE Mechanisms leading to heart failure (HF) symptoms in aortic valve stenosis (AS) are contentious. We examined the impact of secondary mitral regurgitation (MR) on the symptomatic status in patients with AS. METHODS Outpatients performing echocardiography with any degree of AS, without organic mitral valve disease, mitral valve intervention, or aortic insufficiency were enrolled. MR was quantitatively defined through mitral effective regurgitant orifice area (EROA) using the proximal isovelocity surface area method. Patients were divided into two groups (New York Heart Association [NYHA] class I-II vs. NYHA class III-IV). RESULTS Five hundred and eighty-four patients were enrolled (484 NYHA I-II, 100 NYHA III-IV). More symptomatic patients had smaller aortic valve area (AVA), lower left ventricular ejection fraction (LVEF) and stroke volume, higher E/E', and LV global afterload. MR was present in 178 (30%) patients and EROA was

Background Timely diagnosis of patients with Heritable Thoracic Aortic Diseases (HTAD) is essential to avoid (often fatal) aortic dissection. Experts of the HTAD rare disease working group of the European Reference Network of Rare Vascular diseases (vascern) aimed to propose a pathway to: (1) improve patient care by diminishing time to diagnosis; (2) facilitate the establishment of a correct diagnosis, using molecular genetics when possible, which may lead to a more personalized treatment; (3) exclude the diagnosis in unaffected persons (family screening); (4) avoid overuse of financial and personnel resources. Material and methods This pathway is a consensus at expert level. It was generated based on available guidelines when possible. Discussion items were listed and, where necessary, items were included in a questionnaire sent out for voting and discussion over monthly teleconference calls. Results and conclusions Pathway Elements include Thoracic aortic aneurysm – and dissection, Bicuspid Aortic Valve, Medium-sized artery aneurysms/dissection, Extravascular features and Family History. Recommendations for the evaluation of patients and family members are provided. This pathway is advised to implement standardisation of diagnostic workup and follow-up of patients with suspected HTAD and the screening of their relatives and it focuses on patients with heritable aortic diseases whether syndromic or not. It is subject to adjustment with better recognition of new entities, and with the technical progress and increased availability of genetic testing.

The coronavirus-19 disease (COVID-19) related pandemic have deeply impacted human health, economy, psychology and sociality. Possible serious cardiac involvement in the infection has been described, raising doubts about complete healing after the disease in many clinical settings. Moreover, there is the suspicion that the vaccines, especially those based on mRNA technology, can induce myopericarditis. Myocarditis or pericarditis related scars can represent the substrate for lifethreatening arrhythmias, triggered by physical activity. A crucial point is how to evaluate an athlete after a Covid-19 infection ensuring a safe return to play without increasing the number of unnecessary disqualifications from sports competitions. The lack of conclusive scientific data significantly increases the difficulty to propose recommendations and guidelines on this topic. At the same time, the psychological and physical negative consequences of unnecessary sports restriction must be taken into account. The present document aims to provide an updated brief review of the current knowledge about the COVID-19 cardiac involvement and how to recognize it and to offer a roadmap for the management of the athletes after a Covid-19 infections, including subsequent impact on exercise recommendations. Our document exclusively refers to cardiovascular implications of the disease, but pulmonary consequences are also considered.

The term “stable ischemic heart disease” includes a variety of clinical and pathophysiological situations resulting in different presentation modalities, often with complex referral patterns, and with multiple potential therapeutical options. Multifactorial pathogenesis and multiform expressivity are poorly captured by the traditional vision of ischemic heart disease (IHD) as the clogged pipes disease. The availability of different technologies for studying patients with symptoms suggestive of IHD, has shed a new light on the pathophysiology of the disease, but has also allowed appropriate follow-up of patients allocated to different therapeutical options. Though coronary revascularization has been one primary treatment option for obstructive coronary artery disease (CAD), the evidence for its efficacy in patients without acute presentation is far from optimal. A number of studies and meta-analyses strongly support the need for a personalized and optimized medical approach (including functional assessment and therapy) before the tailored option of revascularization in selected patients, in order to optimize its effects on symptoms and outcome. Most recent data have expanded the need for a more personalised approach to this complex situation, which should be patient-centered and not focused on technologies. In this review, we discuss the major pathophysiological factors and the most recent clinical data and guidelines suggestions, needed for a critical re-appraisal of the clinical decision-making to perform revascularization in patients with stable IHD. Moreover we aimed at suggesting the potential role for future studies to fill the existing knowledge gaps but also to counteract a reductive, hydraulic view of chronic IHD, which seems to be still alive and kicking, both in clinical and research communities, despite multiple evidences and recommendations.

Size threshold for aortic surgery in bicuspid aortic valve (BAV) is debated. Connective tissue disorders (CTDs) are claimed as a clinical turning point, suggesting early surgery in BAV patients with CTD. Thus, we aimed at developing a score to detect high risk of carrying CTDs in consecutive BAVs from primary care. Ninety-eight BAVs without ectopia lentis or personal/family history of aortic dissection were studied at the Marfan syndrome Tuscany Referral Center. Findings were compared with those detected in 84 Marfan patients matched for sex and age. We selected traits with high statistical difference between MFS and BAV easily obtainable by cardiologists and primary-care internists: mitral valve prolapse, myopia ≥ 3DO, pectus carenatum, pes planus, wrist and thumb signs, and difference between aortic size at root and ascending aorta ≥ 4 mm. Clustering of ≥ 3 of these manifestations were more frequent in Marfan patients than in BAVs (71.4% vs 6.1%, p p

Background: The epidemiology of aortic stenosis (AS) in older patients admitted to non-cardiologic acute hospital wards and the effect of AS on mid-term survival are incompletely reported. In a cohort of very old patients admitted to an acute geriatric unit (AGU), we aimed to assess: (1) the prevalence of newly and previously diagnosed AS; and (2) the association between AS severity and patients’ 6-month mortality. Methods: The patients consecutively admitted in two AGU rooms from February 2016 to February 2018 were assessed with echocardiography and AS severity was defined according to standard criteria. We assessed frailty using a 34-item Frailty Index (34-FI), which was operationalized using health variable information, and the Clinical Frailty Scale (CFS). Vital status at 6months was extracted from Regional Register of Birth and Death. Results: Two hundred and three patients (mean age 84.5 ± 6.0 SD, female gender 56.1%) were included. Of these, 57 (28.1%) had AS, mild in 9 (4.5%), moderate in 32 (16.1%) and severe in 16 (8.1%). A new diagnosis of AS was obtained in 42 (73.7%) patients, of whom 33 (78.6%) had moderate or severe AS. At 6months, 61 (28.9%) patients died. In multiple regression models, after adjusting for covariates, frailty, as assessed with both FI and CFS, was independent predictor of 6-month mortality whereas AS was not. Conclusions: Among older patients admitted to non-cardiologic acute hospital wards, AS was common and frequently underdiagnosed. The severity of AS was not associated with increased 6-month mortality, whereas frailty was the most important predictor.

Marfan syndrome (MFS) and Loeys–Dietz syndrome type 4 (LDS4) are two hereditary connective tissue disorders. MFS displays ectopia lentis as a distinguishing, characterising feature, and thoracic aortic ectasia, aneurysm, dissection, and systemic features as manifestations overlapping with LDS4. LDS4 is characterised by the presence of hypertelorism, cleft palate and/or bifid uvula, with possible ectasia or aneurysms in other arteries. The variable age of onset of clinical manifestations makes clinical diagnosis more difficult. In this study, we report the case of a patient with Marfan syndrome diagnosed at our centre at the age of 33 on the basis of typical clinical manifestations of this syndrome. At the age of 38, the appearance of ectasia of the left common iliac artery and tortuosity of the iliac arteries suggested the presence of LDS4. Next Generation Sequencing (NGS) analysis, followed by Array-CGH, allowed the detection of a novel chromosomal deletion including the entire TGFB2 gene, confirming not only the clinical suspicion of LDS4, but also the clinical phenotype associated with the haploinsufficiency mechanism, which is, in turn, associated with the deletion of the entire gene. The same mutation was detected in the two young sons. This emblematic case confirms that we must be very careful in the differential diagnosis of these two pathologies, especially before the age of 40, and that, in young subjects suspected to be affected by MFS in particular, we must verify the diagnosis, extending genetic analysis, when necessary, to the search for chromosomal alterations. Recently, ectopia lentis has been reported in a patient with LDS4, confirming the tight overlap between the two syndromes. An accurate revision of the clinical parameters both characterising and overlapping the two pathologies is highly desirable.

Cardiovascular (CV) engagement in coronavirus disease 2019 (COVID‐19) is a huge determinant of prognosis during the acute phase of the disease. However, little is known about the potential chronic implications of the late phase of COVID‐19 and about the appropriate approach to these patients. Heart failure, type 1 and type 2 myocardial infarction, arrhythmias, myocarditis, pulmonary fibrosis, and thrombosis have been shown to be related to severe acute respiratory syndrome coronavirus 2 infection, and a ‘long COVID‐19’ illness has been recognized with fatigue, chest pain, and dyspnoea among the most frequent symptoms reported after discharge from hospital. This paper focuses on some open questions that cardiologists are going to face during the next months in a general cardiology outpatient clinic, in particular how to evaluate a ‘post‐COVID’ patient during follow‐up of CV complications of the acute phase and how to manage new CV symptoms that could be the consequence, at least in part, of heart/vessels and/or lung involvement of the previous virus infection. Present symptoms and signs, history of previous CV disease (both preceding COVID‐19 and occurring during viral infection), and specific laboratory and imaging measurements during the acute phase may be of interest in focusing on how to approach the clinical evaluation of a post‐COVID patient and how to integrate in our standard of care the new information on COVID‐19, possibly in a multidisciplinary view. Dealing with the increased COVID‐associated CV risk burden and becoming acquainted with potential new e‐cardiology approaches aimed at integrating the cardiology practice are relevant new challenges brought by severe acute respiratory syndrome coronavirus 2 infection and its sequelae.

Background: To develop a tool for assessing normalcy of the thoracic aorta (TA) by echocardiography, based on either a linear regression model (Z-score), or a machine learning technique, namely one-class support vector machine (OC-SVM) (Q-score). Methods: TA diameters were measured in 1112 prospectively enrolled healthy subjects, aging 5 to 89 years. Considering sex, age and body surface area we developed two calculators based on the traditional Z-score and the novel Q-score. The calculators were compared in 198 adults with TA > 40 mm, and in 466 patients affected by either Marfan syndrome or bicuspid aortic valve (BAV). Results: Q-score attained a better Area Under the Curve (0.989; 95% CI 0.984–0.993, sensitivity = 97.5%, specificity = 95.4%) than Z-score (0.955; 95% CI 0.942–0.967, sensitivity = 81.3%, specificity = 93.3%; p < 0.0001) in patients with TA > 40 mm. The prevalence of TA dilatation in Marfan and BAV patients was higher as Z-score > 2 than as Q-score < 4% (73.4% vs. 50.09%, p < 0.00001). Conclusions: Q-score is a novel tool for assessing TA normalcy based on a model requiring less assumptions about the distribution of the relevant variables. Notably, diameters do not need to depend linearly on anthropometric measurements. Additionally, Q-score can capture the joint distribution of these variables with all four diameters simultaneously, thus accounting for the overall aortic shape. This approach results in a lower rate of predicted TA abnormalcy in patients at risk of TA aneurysm. Further prognostic studies will be necessary for assessing the relative effectiveness of Q-score versus Z-score.

Patients with bicuspid aortic valve (BAV) have an increased risk of aortic dilation and aortic dissection or rupture. The impact of physical training on the natural course of aortopathy in BAV patients remains unclear. The aim of this study was to evaluate the impact of regular physical activity on aortic diameters in a consecutive cohort of paediatric patients with BAV. Consecutive paediatric BAV patients were evaluated and categorized into two groups: physically active and sedentary subjects. Only the subjects with a complete 2-year follow-up were included in the study. To evaluate the potential impact of physical activity on aortic size, aortic diameters were measured at the sinus of Valsalva and mid-ascending aorta using echocardiography. We defined aortic diameter progression the increase of aortic diameter ≥ 10% from baseline. Among 90 BAV patients (11.5 ± 3.4 years of age, 77% males), 53 (59%) were physically active subjects. Compared to sedentary, physically active subjects were not significantly more likely to have > 10% increase in sinus of Valsalva (13% vs. 8%, p-value = 0.45) or mid-ascending aorta diameter (9% vs. 13%, p-value = 0.55) at 2 years follow-up, both in subjects with sinus of Valsalva diameter progression (3.7 ± 1.0 mm vs. 3.5 ± 0.8 mm, p-value = 0.67) and in those with ascending aorta diameter progression (3.0 ± 0.8 mm vs. 3.2 ± 1.3 mm, p-value = 0.83). In our paediatric cohort of BAV patients, the prevalence and the degree of aortic diameter progression was not significantly different between physically active and sedentary subjects, suggesting that aortic dilation is unrelated to regular physical activity over a 2-year period.

Background: Left atrial assessment is complex, particularly in heart failure with reduced ejection fraction due to interactions with functional mitral regurgitation (FMR). Pilot data suggest that left atrial volumetric/mechanical coupling index (LACI) may be useful, but large outcome data are lacking. Methods: We enrolled a comprehensively characterized cohort of patients in sinus rhythm with heart failure with reduced ejection fraction diagnosis at Mayo Clinic from 2007 to 2011. Routinely measured left atrial volume index and tissue-doppler-imaging a’ allowed LACI calculation as (left atrial volume index)/(tissue-doppler-imaging a’). Survival was the outcome measured. Results: The cohort’s 4196 patients (69 [58–77] years, ejection fraction 40 [31–45]%) had mild FMR in 1505 and moderate-severe FMR in 1068. LACI was overall 5.06 (3.50–8.10) and increased with each FMR grade (3.86 [2.94–5.29] without FMR, 5.38 [3.80–8.02] with mild, 5.45 [1.49–8.07] with moderate/severe FMR; P P P P P =0.004 without FMR, 1.42 [1.16–1.77], P =0.0008 with mild FMR, and 1.38 [1.01–1.66], P =0.04 with moderate/severe FMR) without interaction ( P =0.3). LACI independent impact on outcome was incremental to that of left atrial volume index, tissue-doppler-imaging a’, or any other characteristic including the Meta-Analysis Global Group in Chronic-score (least significant P =0.02). Conclusions: In this large cohort, left atrial volumetric/mechanical coupling measured by LACI in routine practice integrates the influence of several morphological/hemodynamic determinants but displays progressive deterioration with increasing FMR severity in heart failure with reduced ejection fraction. About outcome, higher LACI is strongly, independently, and incrementally associated with excess mortality, irrespective of FMR grade and in all subsets. Hence, LACI is a novel and critical measure in heart failure with reduced ejection fraction, quantifiable in routine practice, which should be integrated in prognostication and decision-making.

Introduction: The introduction of Cardiac Computed Tomography (CCT) has changed the paradigm in the field of diagnostic cardiovascular medicine. CCT is the primary tool in the assessment of suspected Coronary Artery Disease (CAD) and should be followed by functional assessment when needed to stratify disease and to plan potential interventional or surgical therapy. Areas Covered: We provided the current state of the knowledge on the main aspects of technique of examination, image interpretation and clinical indications. We have focused our attention on the basic routine applications and activities. Expert Opinion: The primary role of CCT in suspected CAD will progressively become the standard approach. In general, any situation in which anatomy of the heart and thoracic vessels/structures is mandatory must be approached using CT first, whenever possible. The quantity and quality of information that can be provided by CCT is big and the operators should learn how to deal with this information. On the other hand, CCT is only apparently a straightforward and simple examination. It is actually the most complex diagnostic procedure that can be performed on CT and requires highly skilled operators and state-of-art-technology. Abbreviations: CABG = Coronary Artery Bypass GraftCAD = Coronary Artery DiseaseCAG = Conventional Coronary AngiographyCCT = Cardiac Computed TomographyCT = Computed TomographySSCT = Single-Source Computed TomographyDSCT = Dual-Source Computed TomographyOMT = Optimal Medical TherapyPCI = Percutaneous Coronary InterventionNSTEMI = Non-ST Elevation Myocardial InfarctionSTEMI = ST Elevation Myocardial InfarctionSPECT = Single–Photon Emission Computed TomographyPET = Positron Emission TomographyRCT = Randomized Clinical Trialmm = millimeterkV = kiloVoltmAs = milliAmpere/secondFOV = Field of View.

Objective: Bicuspid aortic valve is a common risk factor for thoracic aortic aneurysm and dissection. Guidelines for elective ascending aortic intervention (AAI) in bicuspid aortic valve are derived from limited evidence, and the extent of practice variation due to patient and provider characteristics is unknown. Using data from 2 large cardiovascular registries, we investigated factors that influence decisions for AAI. Methods: All bicuspid aortic valve cases with known aortic diameters and surgical status were included. We used multivariable logistic regression to profile predictors of isolated aortic valve replacement (AVR) or AVR+AAI, stratified by patient characteristics, surgical indications, and institution. Results: We studied 2861 subjects at 18 institutions from 1996 to 2015. The median aortic diameter of patients who underwent AVR+AAI varied widely across institutions (39-52 mm). Aortic diameters were

Right-parasternal-view (RPV) often provides the best hemodynamic assessment of the aortic-valve-stenosis by echocardiography. However, no detailed study on patients with aortic prosthesis is available. Thus, RPV usefulness is left as an anecdotical notion in this context. We aimed to define feasibility and clinical-impact of RPV before and soon-after percutaneous implantation (TAVI) or surgical (SAVR) aortic-valve-replacement (AVR) for AS. Patients with severe-AS electively referred for AVR between September-2019 and February-2020 were prospectively evaluated. Echocardiographic examinations inclusive of apical and RPV to measure aortic-peak-velocity , gradients and area (AVA) were performed the day before AVR and at hospital discharge and compared by matched-pair-analysis. Forty-seven patients (mean age 79 ± 8 years, 63% female, ejection-fraction 61 ± 6%) referred for SAVR (24 [51%]) or TAVI (23 [49%]) were enrolled. RPV was feasible in 45 patients (96%) before-AVR but in only 32 after-AVR (68%), particularly after SAVR (50%) than TAVI (87% p = 0.005). RPV remained the best acoustic window after TAVI in 75% of cases. Hemodynamic assessment of TAVI, but not SAVR, invariably benefit from RPV versus apical evaluation (aortic-peak-velocity: 2.57 ± 0.39 vs 2.23 ± 0.47 m/sec, p = 0.002; mean gradient: 15 ± 5 vs 12 ± 5 mm Hg, p = 0.01). Five (11%) patients presented severe patient-prosthesis-mismatch, 4 of which were detectable only by RPV. This pilot-experience demonstrates that RPV feasibility is slightly reduced after AVR. RPV can improve the hemodynamic assessment of the prosthetic valve versus apical view, including the detection of patient-prosthesis-mismatch. Furthermore, when RPV is the best acoustic windows in patients with severe AS, it generally remains so after-TAVI.

The need for multiple transducer positions, especially from right parasternal windows, is consistently mentioned in the recommendations for the accurate measurement of peak velocities across a stenotic aortic valve, but yet poorly adopted.We performed a subanalysis of the largest prospective series on the right parasternal acoustic windows in patients with aortic stenosis (330 consecutive) to calculate the degree of misalignment and estimate the potential outcome implication of this often-forgotten approach.The right parasternal view was highly feasible with an average estimated misalignment from the apical view of 14 ± 16 degree; in 10 cases, an estimated misalignment >40 degree. Right parasternal assessment (vs. apical alone) provided a significant reclassification from moderate to severe or even very-severe aortic valve stenosis. Considering a wellestablished survival benefit provided by either percutaneous or surgical valve replacement in patients with severe aortic stenosis the reclassification would result in approximately 1 life-year saved for every 30-35 patients in whom parasternal view were effectively utilized.

Aortic valve stenosis (AS) is a progressive condition characterized by gradual calcification of the aortic cusps. Progression rate evaluated using echocardiography has been associated with survival. However, data from routine practice covering the whole spectrum of AS severity and the rate of symptom onset are sparse. The aim of this study was to assess outcomes under medical management related to disease progression in asymptomatic patients with a wide range of AS severity.Two hundred twenty-nine consecutive asymptomatic patients (mean age, 77 ± 10 years; 55% men) with AS, preserved left ventricular ejection fraction, and two or more echocardiographic examinations performed from 2004 to 2014 were retrospectively included. The median time between the two echocardiographic examinations was 24 months (interquartile range, 15-46 months). Patients were identified as rapid progressors if the annualized difference in peak aortic velocity between two echocardiographic examinations was ≥0.3 m/sec/y; others were labeled as slow progressors. The primary end point was mortality during medical follow-up (censoring on aortic valve interventions). The secondary end point was overall mortality.Rapid progressors accounted for 67 of the 229 patients (29%), and this feature was not associated with baseline characteristics. During a median of 5.8 years (interquartile range, 3.4-8.3 years) of follow-up from the first echocardiographic examination, 102 patients (45%) died, 86 (84%) during medical follow-up. Rapid progression rate predicted excess mortality (vs slow progression rate) after adjustment for age, sex, symptoms, baseline left ventricular ejection fraction, and baseline aortic valve area (hazard ratio, 2.50; 95% CI, 1.48-4.21; P = .0006) and after adjusting for peak aortic velocity and left ventricular ejection fraction obtained at the last echocardiographic examination (hazard ratio, 2.07; 95% CI, 1.25-3.46; P = .005). Among patients with baseline peak aortic velocity4 m/sec (nonsevere AS), rapid progression rate was associated with higher 5-year mortality compared with slow progression (57% vs 22% [P .0001] under medical management and 44% vs 18% [P = .005] overall). Outcomes were comparable between nonsevere AS rapid progressors and baseline severe AS. Progression rate showed incremental prognostic value on receiver operating characteristic curve analysis versus AS severity. Of note, among slow progressors, 11 patients (5%) presented with high rates of symptom development and poor outcomes related to ventricular dysfunction or other advanced AS features.Progression rate is an individual, almost unpredictable feature among patients with AS. Rapid progression is an incremental marker of excess mortality in asymptomatic patients with AS, independent of clinical and hemodynamic characteristics. Rapid progression rate may identify patients with nonsevere AS at higher risk for events.

Background: Tissue Doppler imaging (TDI) indices of left ventricular (LV) diastolic function provide incremental prognostic information on mortality and morbidity in the general population and in several clinical scenarios. Their independent, additional role in outpatients with normal LV ejection fraction (LVEF) and without heart failure (HF) is undefined. Methods: We reviewed clinical and echocardiographic records of 2628 consecutive outpatients 52.8% male, median age 71 years) with LVEF > 50% without concurrent or prior HF, from the Cardiovascular Center of Trieste. We analyzed septal early mitral annular velocity (e’) and its combination with mitral peak early filling velocity (E/e’) in relation to the composite end-point of death and cardiovascular hospitalizations. Results: During follow-up of 26 months (interquartile range: 12–41), 392 (15%) patients experienced the endpoint (88 deaths). Increasing E/e’ showed an overall association with the clinical end-point (log rank p < 0.02), but with no prognostic difference between the middle and upper tertile. Decreasing e’ also showed an association with the end-point, with a more balanced stepwise risk increase for increasing tertiles (log rank p < 0.01 for all contrasts). At multivariable analysis, E/e’ (either in tertiles or dichotomized according to the threshold of 15) was no longer associated with clinical outcome, whereas e’ independently predicted the combined endpoint [hazard ratio 0.73 (0.53-0.94), p = 0.04]. The prognostic value of e’ was incremental to that of other clinical and echocardiographic variables (p = 0.04). Conclusions: In outpatients with normal LVEF and without HF, e’ and E/e’ are both associated with clinical end-points, though only e’ is an independent and incremental predictor of outcome. These findings suggest a potential role for e’ as a prognosticator, and spread a cautionary word about the utilization of septal E/e’ alone as a surrogate for a comprehensive assessment of diastolic function in this context.

The clinical relevance of functional-mitral-regurgitation (FMR) in patients with aortic valve stenosis (AS) has been poorly studied using a quantitative approach. In addition, FMR prognostic value has mostly been analyzed after aortic valve replacement. Between 2010 and 2014 the echocardiograms of consecutive AS patients were retrospectively reviewed. Inclusion criteria were calcified aortic valve with transaortic-velocity >2.5 m/s and calculated mitral effective regurgitant orifice area (ERO) in the presence of mitral regurgitation. Organic mitral valve disease was an exclusion-criteria. Primary endpoint was heart failure or death under medical management. Secondary endpoint was heart failure or death. Eligible patients were 189, age 79 ± 8 years, 61% NYHA I/II, indexed aortic valve area (AVA) 0.55 ± 0.17 cm2/m2. Mitral ERO was 7.6 ± 4.2 mm2 (>10 mm2 in 30% of patients). Longitudinal function (by S’-TDI) was associated with mitral ERO independently of ejection fraction and ventricular volumes (p = 0.01). Mitral ERO greater than 10 mm2 (threshold identified by spline survival-modeling) was associated with severe symptoms (Odds ratio [OR] 3.1 [1.6 to 6.0]; p = 0.0006) and higher pulmonary-arterial-pressure (OR 3.0 [1.4 to 5.9]; p = 0.002). Follow-up was completed for 175 patients. After 4.7 [1.4 to 7.2] years, 87 (50%) patients underwent AVR, 66 (38%) had heart-failure, 64 (37%) died. No procedure on FMR was required. Mitral ERO was independently associated with primary and secondary endpoints both as continuous variable (Hazard ratio [HR] 1.15 [1.00 to 1.30]; p = 0.04 and HR 1.23 [1.05 to 1.43]; p = 0.01 per 5 mm2 ERO increase) or as ERO> versus ≤10 mm2. Adjustment for S’-TDI or subgroup-analysis did not affect results. The analysis by AVA revealed the incremental prognostic role of mitral ERO over AS severity. In conclusion, AS patients with concomitant FMR >10 mm2 holds a higher risk during medical follow-up. FMR quantitation, even for volumetrically modest regurgitation, provides incremental prognostic information over AS severity.

Surgical myectomy (SM) and alcohol septal ablation (ASA) are two invasive therapies for symptomatic patients with hypertrophic obstructive cardiomyopathy (HOCM), despite medical therapy. This meta-analysis aims to compare the efficacy of the two procedures. We searched all electronic databases until February 2020 for clinical trials and cohorts comparing clinical outcomes of ASA and SM treatment of patients with HOCM. The primary endpoint was all-cause mortality, cardiovascular (CV) mortality, sudden cardiac death (SCD), re-intervention, and complications. Secondary endpoints included relief of clinical symptoms and drop of left ventricular outflow tract (LVOT) gradient. Twenty studies (4547 patients; 2 CTs and 18 cohorts) comparing ASA vs. SM with a mean follow-up of 47 ± 28.7 months were included. Long term (8.72 vs. 7.84%, p = 0.42) and short term (1.12 vs. 1.27%, p = 0.93) all-cause mortality, CV mortality (2.48 vs. 3.66%, p = 0.26), SCD (1.78 vs. 0.76%, p = 0.20) and stroke (0.36 vs. 1.01%, p = 0.64) were not different between procedures. ASA was associated with lower peri-procedural complications (5.57 vs. 10.5%, p = 0.04) but higher rate of re-interventions (10.1 vs. 0.27%; p < 0.001) and pacemaker dependency (12.4 vs. 4.31%, p = 0.0004) compared to SM. ASA resulted in less reduction in LVOT gradient (−47.8 vs. −58.4 mmHg, p = 0.01) and less improvement of clinical symptoms compared to SM (New York Heart Association (NYHA) class III/IV, 82.4 vs. 94.5%, p < 0.001, angina 53.2 vs. 84.2%, p = 0.02). Thus, ASA and SM treatment of HOCM carry a similar risk of mortality. Peri-procedural complications are less in alcohol ablation but re-intervention and pacemaker implantations are more common. These results might impact the procedure choice in individual patients, for the best clinical outcome.

Background:Marfan syndrome is an autosomal dominant disorder of the connective tissue, whose cardinal features affect eyes, musculoskeletal, and cardiovascular system. Despite prevalence and natural history of cardiovascular manifestation are well known in adults, little is known about children and young adult patients. The aim of this study was to describe a well-characterised cohort of consecutive children and young patients with marfan syndrome, looking at the impact of family history and presence of bicuspid aortic valve on disease severity.Methods:A total of 30 consecutive children and young patients with Marfan syndrome were evaluated. All patients underwent a comprehensive clinical–instrumental–genetic evaluation. Particular attention was posed to identify differences in prevalence of cardiovascular abnormalities between patients with and without family history of Marfan syndrome or bicuspid aortic valve.Results:Of these 30 patients, family history of Marfan syndrome and bicuspid aortic valve were present in 76 and 13%, respectively. Compared to patients with family history of Marfan syndrome, those without showed higher prevalence of aortic sinus dilation (87 versus 32%, p-value = 0.009), greater aortic sinus diameters (4.2 ± 2.1 versus 1.9 ± 1.1 z score, p-value = 0.002), and higher rate of aortic surgery during follow-up (37 versus 0%, p-value = 0.002). Compared to patients with tricuspid aortic valve, those with bicuspid aortic valve were younger (3.2 ± 4.3 versus 10.7 ± 6.8 years old, p-value = 0.043), showed greater aortic sinus diameters (4.2 ± 0.9 versus 2.2 ± 1.6 z score, p-value = 0.033), and underwent more frequently aortic root replacement (50 versus 4%, p-value = 0.004).Conclusions:In our cohort of patients with Marfan syndrome, the absence of family history and the presence of bicuspid aortic valve were associated to severe aortic phenotype and worse prognosis.

Background: Current guidelines on diastolic function (DF) by the American Society of Echocardiography and the European Association of Cardiovascular Imaging (ASE/EACVI) have been disputed and two alternative algorithms have been proposed by Johansen et al. and Oh et al. We sought (a) to assess the concordance of ASE/EACVI guidelines on DF using these proposed alternative approaches and (b) to evaluate the prevalence of indeterminate diastolic dysfunction (DD) by each method, exploring means for reducing their number. Methods: We retrospectively analyzed the echocardiographic reports of 1158 outpatients including subjects at risk of heart failure without (n = 644) or with (n = 241) structural heart disease, and 273 healthy individuals. Concordance was calculated using the k coefficient and overall proportion of DD reclassification rate. The effectiveness of pulmonary vein flow (PVF), Valsalva maneuver, and left atrial volume index/late diastolic a’-ratio (LAVi/a’) over indeterminate grading was assessed. Results: The DD reclassification rate was 30.1% (k = 0.35) for ASE/EACVI and OH, 36.5% (k = 0.27) for ASE/EACVI and JOHANSEN and 31.1% (k = 0.37) for OH and JOHANSEN (p < 0.0001 for all comparisons). DF could not be graded only by ASE/EACVI and OH in 9% and 11% patients, respectively. The majority of patients could be reclassified using PVF or Valsalva maneuver or LAVi/a’, with the latter being the single most effective parameter. Conclusion: Inconsistencies between updated guidelines and independent approaches to assess and grade DF impede their interchangeable clinical use. The inconclusive diagnoses can be reconciled by conventional echocardiography in most patients, and LAVi/a’ emerges as a simple and effective approach to this aim.

Hemodynamic valvular impairment is a frequent determinant of the natural history of bicuspid aortic valve (BAV). The role of elevated Lp(a) levels and LPA Kringle IV type 2 (KIV-2) size polymorphism in influencing aortic valve calcification and stenosis development in patients with tricuspid aortic valve was recognized. In this study, we investigate the association between Lp(a) and LPA KIV-2 repeat number, and the presence of calcification and stenosis in BAV patients. Sixty-nine patients [79.7% males; median age 45(30-53) yrs], consecutively referred to Center for Cardiovascular Diagnosis or Referral Center for Marfan syndrome or related disorders, AOU Careggi, from June to November 2014, were investigated. For each patient, clinical (ECG and echocardiography) and laboratory [Lp(a) (Immunoturbidimetric assay) and LPA KIV-2 repeat number (real-time PCR)] evaluation were performed. Patients were compared with 69 control subjects. No significant association between Lp(a) circulating levels and LPA KIV-2 repeat number and BAV was evidenced. Among BAV patients, significantly higher Lp(a) levels according to calcification degree were found [no calcifications:78(42-159) mg/L, mild/moderate: 134(69-189) mg/L; severe: 560(286-1511) mg/L, p = 0.008]. Conversely, lower LPA KIV-2 repeat numbers in subjects with more severe calcification degree were observed. Furthermore, higher Lp(a) levels in patients with aortic stenosis [214(67-501) mg/L vs 104(56-169) mg/L, p = 0.043] were also found. In conclusion, present data suggest the potential role for Lp(a) as a possible risk marker useful to stratify, among BAV patients, those with a higher chance to develop valvular calcifications and aortic stenosis.

Both conventional coronary angiography and cardiac computed tomography have greatly improved our diagnostic and prognostic evaluation of patients with either suspected or confirmed coronary artery disease. Although several other tools can provide information about coronary anatomy or function, invasive coronary angiography and, more recently, coronary computed tomography angiography (CCTA) are the most commonly used imaging modalities. Coronary atherosclerosis is the most common disease of the coronary arteries and its presence identifies patients at increased risk of events. As a matter of fact, coronary atherosclerosis represents the major determinant for the occurrence of events and the development of ischemic heart disease. Coronary atherosclerosis can translate into plaques that may eventually progress to critical stenosis causing myocardial ischemia. More commonly, atherosclerotic lesions are non-obstructive. Their presence, number and extent negatively affect prognosis independently of other mechanisms. In order to improve prognosis, optimal medical therapy should be initiated to halt disease progression and/or to stabilize atherosclerotic plaques. It is therefore of paramount importance to describe the presence of atherosclerotic lesions well beyond those lesions potentially or undoubtedly capable of inducing myocardial ischemia. These latter lesions may in fact benefit from an interventional or surgical treatment. However, most events are caused by non-obstructive lesions that may often be missed.In common practice, the description of coronary anatomy is not structured in a universal model and each Center applies its own (albeit arbitrary) rules. This consensus document is a collaborative work of some of the major Italian Scientific Societies to offer scientific support to those healthcare professionals who, at different levels, report on coronary anatomy or receive the description of coronary anatomy of patients. After a brief description of the available techniques used to explore the coronary anatomy, the best available evidence in support of a detailed description of coronary atherosclerosis is summarized. In order to promote a useful translation of the information into practice, several recommendations for the correct reporting of coronary anatomy and the suggested treatment for the different clinical scenarios are provided. The aim of this consensus document is to refine the description of coronary anatomy as offered by both invasive coronary angiography and CCTA to improve risk stratification of patients undergoing coronary imaging in clinical practice and to select the most appropriate treatment for improving cardiovascular outcomes.

A key factor in cardiovascular prevention is the detection and appropriate management of preclinical heart failure (HF), but information on the subject is scarce. We designed VASTISSIMO as a prospective, observational study to investigate Outpatient Clinic Cardiologists’ skills in detecting and managing preclinical HF in Italy. Quality scores were used to assess the appropriateness of clinical management according to guideline recommendations. The feasibility of making a diagnosis of preclinical HF in a cardiology outpatient clinical setting, cardiologists’ awareness of preclinical HF and consistency between physician’s perceived risk of HF and the patient’s classification into the preclinical HF Stages A [(SAHF) or B (SBHF)] have been investigated. Consistency was defined acceptable if the concordance between perceived risk and actual risk was >70%. Out of 3322 patients included in the study data necessary for identifying SBHF were collected in 2106 (63.4%). Many SBHF patients had their risk underestimated: 16.2% of those with previous acute myocardial infarction (AMI), 23.1% with left ventricular hypertrophy (LVH) at ECG/echocardiography, 30% with systolic/diastolic dysfunction, and 14.3% with valve disease. Cardiologists’ awareness of preclinical HF in the outpatient setting should be improved. This is a critical area of cardiovascular prevention that requires attention to improve good clinical practice and adherence to guidelines.

Early detection of heart failure, when still preclinical, is fundamental. Therefore, it is important to assess whether preclinical heart failure management by cardiologists is adequate. The VASTISSIMO study ('EValuation of the AppropriateneSs of The preclInical phase (Stage A and Stage B) of heart failure Management in Outpatient clinics in Italy') is a prospective nationwide study aimed to evaluate the appropriateness of diagnosis and management of preclinical heart failure (stages A and B) by cardiologists working in outpatient clinics in Italy. Secondary goals are to verify if an online educational course for cardiologists can improve management of preclinical heart failure, and evaluate how well cardiologists are aware of patients' adherence to medications. The study involves 80 outpatient cardiology clinics distributed throughout Italy, affiliated either to the Hospital Cardiologists Association or to the Regional Association of Outpatient Cardiologists, and is designed with two phases of consecutive outpatient enrolment each lasting 1 month. In phase 1, physicians' awareness of the risk of heart failure and their decision-making process are recorded. Subsequently, half of the cardiologists are randomized to undergo an online educational course aimed to improve preclinical heart failure management through implementation of guideline recommendations. At the end of the course, all cardiologists are evaluated (phase 2) to see whether changes in clinical management have occurred in those who underwent the educational program versus those who did not. Patients' adherence to prescribed medications will be assessed through the Morisky Self-report Questionnaire. This study should provide valuable information about cardiologists' awareness of preclinical heart failure and the appropriateness of clinical practice in outpatient cardiology clinics in Italy.

To analyze the relationship between aortic measures and biometric parameters in a large cohort of consecutive patients undergoing computed tomography coronary angiography. 1170 patients (717 men/453 women) performing computed tomography coronary angiography for coronary evaluation were retrospectively evaluated. Aortic diameters and areas were measured at reproducible anatomic landmarks, perpendicular to the axis of vessel, at the level of the aortic root (AoR), the sinotubular junction (STJ), and the tubular ascending aorta (TAo). Biometric parameters and cardiovascular risk factors were recorded. The average values of AoR, STJ, and TAo were 35.63 ± 5.00 mm, 30.56 ± 4.82 mm, 35.07 ± 5.84 mm. Hypertension was significantly associated with aortic dimensions. Aortic measures were significantly different between men and women (37.56 ± 4.77 mm vs 32.58 ± 3.68 mm for AoR, 31.88 ± 4.84 mm vs 28.47 ± 3.98 mm for STJ and 35.93 ± 5.86 mm vs 33.70 ± 5.54 mm for TAo) (P

International audience; Importance - The natural history and the management of patients with asymptomatic aortic stenosis (AS) have not been fully examined in the current era. Objective - To determine the clinical outcomes of patients with asymptomatic AS using data from the Heart Valve Clinic International Database. Design, setting, and participants - This registry was assembled by merging data from prospectively gathered institutional databases from 10 heart valve clinics in Europe, Canada, and the United States. Asymptomatic patients with an aortic valve area of 1.5 cm2 or less and preserved left ventricular ejection fraction (LVEF) greater than 50% at entry were considered for the present analysis. Data were collected from January 2001 to December 2014, and data were analyzed from January 2017 to July 2018. Main outcomes and measures - Natural history, need for aortic valve replacement (AVR), and survival of asymptomatic patients with moderate or severe AS at entry followed up in a heart valve clinic. Indications for AVR were based on current guideline recommendations. Results - Of the 1375 patients included in this analysis, 834 (60.7%) were male, and the mean (SD) age was 71 (13) years. A total of 861 patients (62.6%) had severe AS (aortic valve area less than 1.0 cm2). The mean (SD) overall survival during medical management (mean [SD] follow up, 27 [24] months) was 93% (1%), 86% (2%), and 75% (4%) at 2, 4, and 8 years, respectively. A total of 104 patients (7.6%) died under observation, including 57 patients (54.8%) from cardiovascular causes. The crude rate of sudden death was 0.65% over the duration of the study. A total of 542 patients (39.4%) underwent AVR, including 388 patients (71.6%) with severe AS at study entry and 154 (28.4%) with moderate AS at entry who progressed to severe AS. Those with severe AS at entry who underwent AVR did so at a mean (SD) of 14.4 (16.6) months and a median of 8.7 months. The mean (SD) 2-year and 4-year AVR-free survival rates for asymptomatic patients with severe AS at baseline were 54% (2%) and 32% (3%), respectively. In those undergoing AVR, the 30-day postprocedural mortality was 0.9%. In patients with severe AS at entry, peak aortic jet velocity (greater than 5 m/s) and LVEF (less than 60%) were associated with all-cause and cardiovascular mortality without AVR; these factors were also associated with postprocedural mortality in those patients with severe AS at baseline who underwent AVR (surgical AVR in 310 patients; transcatheter AVR in 78 patients). Conclusions and relevance - In patients with asymptomatic AS followed up in heart valve centers, the risk of sudden death is low, and rates of overall survival are similar to those reported from previous series. Patients with severe AS at baseline and peak aortic jet velocity of 5.0 m/s or greater or LVEF less than 60% have increased risks of all-cause and cardiovascular mortality even after AVR. The potential benefit of early intervention should be considered in these high-risk patients.