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Transthoracic echocardiography (TTE) is routinely required during pre-participation screening in the presence of symptoms, family history of sudden cardiac death or cardiomyopathies <40-year-old, murmurs, abnormal ECG findings or in the follow-up of athletes with a history of cardiovascular disease (CVD). TTE is a cost-effective first-line imaging modality to evaluate the cardiac remodeling due to long-term, intense training, previously known as the athlete's heart, and to rule out the presence of conditions at risk of sudden cardiac death, including cardiomyopathies, coronary artery anomalies, congenital, aortic and heart valve diseases. Moreover, TTE is useful for distinguishing physiological cardiac adaptations during intense exercise from pathological behavior due to an underlying CVD. In this expert opinion statement endorsed by the Italian Society of Sports Cardiology, we discussed common clinical scenarios where a TTE is required and conditions falling in the grey zone between the athlete's heart and underlying cardiomyopathies or other CVD. In addition, we propose a minimum dataset that should be included in the report for the most common indications of TTE in sports cardiology clinical practice.
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Cardiología , Ecocardiografía , Sociedades Médicas , Medicina Deportiva , Humanos , Ecocardiografía/métodos , Ecocardiografía/normas , Medicina Deportiva/métodos , Medicina Deportiva/normas , Italia , Sociedades Médicas/normas , Cardiología/normas , Cardiología/métodos , Muerte Súbita Cardíaca/prevención & control , Atletas , Testimonio de Experto/métodos , Testimonio de Experto/normas , Deportes/fisiología , Enfermedades Cardiovasculares/diagnóstico por imagenRESUMEN
AIM: To evaluate the association between raphe in bicuspid aortic valve (BAV) patients and valve dysfunction, aortopathy and aortic valve surgery in the REBECCA registry [REgistro della valvola aortica Bicuspide della Società Italiana di ECocardiografia e CArdiovascular Imaging (SIECVI)]. METHODS: Prevalence of aortic valve dysfunction and aortopathy was investigated in BAV patients with and without raphe. Aortic valve dysfunction (regurgitation or stenosis) was categorized as mild, moderate and severe. Aortopathy was defined as annulus ≥14 mm/m2; root ≥20 mm/m2; sinotubular junction ≥16 mm/m2; ascending aorta ≥17 mm/m2, and classified in Type A, isolated ascending aorta dilatation; Type B, aortic root and ascending aorta dilatation; and Type C, isolated aortic root dilatation. RESULTS: Overall, 695 patients with BAV were enrolled; 520 (74.8%) with raphe and 175 (25.2%) without raphe. BAV patients with raphe presented more frequently with moderate or severe aortic stenosis than BAV patients without raphe (183 [35.2%] vs 34 [19.4%], p < 0.001). A higher prevalence of aortopathy, particularly Type B, was observed in patients with vs without raphe. At multivariable analysis, raphe was a predictor of aortic valve surgery at three-year follow-up (odds ratio 2.19, 95% confidence interval 1.08-4.44, p < 0.001). CONCLUSIONS: Patients with BAV and raphe have a higher prevalence of significant aortic stenosis, aortopathy, especially Type B, and a higher risk of undergoing aortic valve surgery at three-year follow-up.
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Válvula Aórtica , Enfermedad de la Válvula Aórtica Bicúspide , Enfermedades de las Válvulas Cardíacas , Sistema de Registros , Humanos , Masculino , Femenino , Enfermedad de la Válvula Aórtica Bicúspide/cirugía , Enfermedad de la Válvula Aórtica Bicúspide/diagnóstico por imagen , Enfermedad de la Válvula Aórtica Bicúspide/complicaciones , Persona de Mediana Edad , Válvula Aórtica/anomalías , Válvula Aórtica/cirugía , Válvula Aórtica/diagnóstico por imagen , Anciano , Enfermedades de las Válvulas Cardíacas/cirugía , Enfermedades de las Válvulas Cardíacas/diagnóstico por imagen , Enfermedades de las Válvulas Cardíacas/complicaciones , Enfermedades de la Aorta/cirugía , Enfermedades de la Aorta/diagnóstico por imagen , Enfermedades de la Aorta/epidemiología , Adulto , Estenosis de la Válvula Aórtica/cirugía , Estenosis de la Válvula Aórtica/diagnóstico por imagen , Estudios de Seguimiento , Italia/epidemiologíaRESUMEN
The long-established utility of multiwindow interrogation in echocardiography (suprasternal notch, right and left sternal border, apex, and subxiphoid) is sometimes not systematically implemented in routine practice. This case series emphasizes the pivotal importance of such practice for the systematic assessment of aortic valve stenosis and in the evaluation of left ventricular outflow tract and the aorta.
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AIMS: We sought to investigate the association of left atrial strain with the outcome in a large cohort of patients with at least moderate aortic stenosis (AS). METHODS AND RESULTS: We analysed 467 patients (mean age 80.6 ± 8.2 years; 51% men) with at least moderate AS and sinus rhythm. The primary study endpoint was the composite of all-cause mortality and hospitalizations for heart failure. After a median follow-up of 19.2 (inter-quartile range 12.5-24.4) months, 96 events occurred. Using the receiver operator characteristic curve analysis, the cut-off value of peak atrial longitudinal strain (PALS) more strongly associated with outcome was <16% {area under the curve (AUC) 0.70 [95% confidence interval (CI): 0.63-0.78], P < 0.001}. The Kaplan-Meier curves demonstrated a higher rate of events for patients with PALS < 16% (log-rank P < 0.001). On multivariable analysis, PALS [adjusted HR (aHR) 0.95 (95% CI 0.91-0.99), P = 0.017] and age were the only variables independently associated with the combined endpoint. PALS provided incremental prognostic value over left ventricular (LV) global longitudinal strain, LV ejection fraction, and right ventricular function. Subgroup analysis revealed that impaired PALS was also independently associated with outcome in the subgroups of paucisymptomatic patients [aHR 0.98 (95% CI 0.97-0.98), P = 0.048], moderate AS [aHR 0.92, (95% CI 0.86-0.98), P = 0.016], and low-flow AS [aHR 0.90 (95% CI 0.83-0.98), P = 0.020]. CONCLUSION: In our patients with at least moderate AS, PALS was independently associated with outcome. In asymptomatic patients, PALS could be a potential marker of sub-clinical damage, leading to better risk stratification and, potentially, earlier treatment.
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Estenosis de la Válvula Aórtica , Índice de Severidad de la Enfermedad , Humanos , Masculino , Estenosis de la Válvula Aórtica/diagnóstico por imagen , Estenosis de la Válvula Aórtica/fisiopatología , Estenosis de la Válvula Aórtica/mortalidad , Femenino , Medición de Riesgo , Anciano , Anciano de 80 o más Años , Pronóstico , Estudios de Cohortes , Ecocardiografía/métodos , Atrios Cardíacos/diagnóstico por imagen , Atrios Cardíacos/fisiopatología , Estudios Retrospectivos , Función del Atrio Izquierdo/fisiología , Estimación de Kaplan-Meier , Curva ROC , Causas de MuerteRESUMEN
The potential of precision population health lies in its capacity to utilize robust patient data for customized prevention and care targeted at specific groups. Machine learning has the potential to automatically identify clinically relevant subgroups of individuals, considering heterogeneous data sources. This study aimed to assess whether unsupervised machine learning (UML) techniques could interpret different clinical data to uncover clinically significant subgroups of patients suspected of coronary artery disease and identify different ranges of aorta dimensions in the different identified subgroups. We employed a random forest-based cluster analysis, utilizing 14 variables from 1170 (717 men/453 women) participants. The unsupervised clustering approach successfully identified four distinct subgroups of individuals with specific clinical characteristics, and this allows us to interpret and assess different ranges of aorta dimensions for each cluster. By employing flexible UML algorithms, we can effectively process heterogeneous patient data and gain deeper insights into clinical interpretation and risk assessment.
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BACKGROUND: Aortic dilation (AoD) is commonly reported in patients with bicuspid aortic valve (BAV) and has been related to flow abnormalities and genetic predisposition. AoD-related complications are reported to be extremely rare in children. Conversely, an overestimate of AoD related to body size may lead to excess diagnoses and negatively impact quality of life and an active lifestyle. In the present study, we compared the diagnosis performance of the newly introduced Q-score (based on a machine-learning algorithm) versus the traditional Z-score in a large consecutive pediatric cohort with BAV. MATERIALS AND METHODS: Prevalence and progression of AoD were evaluated in 281 pediatric patients ages > 5 and < 18 years at first observation, 249 of whom had isolated BAV and 32 had BAV associated with aortic coarctation (CoA-BAV). An additional group of 24 pediatric patients with isolated CoA was considered. Measurements were made at the level of the aortic annulus, Valsalva sinuses, sinotubular aorta, and proximal ascending aorta. Both Z-scores using traditional nomograms and the new Q-score were calculated at baseline and at followup (mean 4.5 years). RESULTS: A dilation of the proximal ascending aorta was suggested by traditional nomograms (Z-score > 2) in 31.2% of patients with isolated BAV and 18.5% with CoA-BAV at baseline and in 40.7% and 33.3%, respectively, at followup. No significant dilation was found in patients with isolated CoA. Using the new Q-score calculator, ascending aorta dilation was detected in 15.4% of patients with BAV and 18.5% with CoA-BAV at baseline and in 15.8% and 3.7%, respectively, at followup. AoD was significantly related to the presence and degree of aortic stenosis (AS) but not to aortic regurgitation (AR). No AoD-related complications occurred during the followup. CONCLUSIONS: Our data confirm the presence of ascending aorta dilation in a consistent subgroup of pediatric patients with isolated BAV, with progression during followup, while AoD was less common when CoA was associated with BAV. A positive correlation was found with the prevalence and degree of AS, but not with AR. Finally, the nomograms used may significantly influence the prevalence of AoD, especially in children, with a possible overestimation by traditional nomograms. This concept requires prospective validation in long-term followup.
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We present a case report of an older patient with aortic stenosis who was managed before and after transcatheter aortic valve implantation by a team of cardiologists but without the support of a geriatrician. We first describe the patient's post-interventional complications from a geriatric perspective and afterwards, discuss the unique approach that the geriatrician would have provided. This case report was written by a group of geriatricians working in an acute hospital, along with a clinical cardiologist who is an expert in aortic stenosis. We discuss the implications for modifying conventional practice in tandem with existing literature.
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Heritable thoracic aortic diseases (HTAD) are rare pathologies associated with thoracic aortic aneurysms and dissection, which can be syndromic or non-syndromic. They may result from genetic defects. Associated genes identified to date are classified into those encoding components of the (a) extracellular matrix (b) TGFß pathway and (c) smooth muscle contractile mechanism. Timely diagnosis allows for prompt aortic surveillance and prophylactic surgery, hence improving life expectancy and reducing maternal complications as well as providing reassurance to family members when a diagnosis is ruled out. This document is an expert opinion reflecting strategies put forward by medical experts and patient representatives involved in the HTAD Rare Disease Working Group of VASCERN. It aims to provide a patient pathway that improves patient care by diminishing time to diagnosis, facilitating the establishment of a correct diagnosis using molecular genetics when possible, excluding the diagnosis in unaffected persons through appropriate family screening and avoiding overuse of resources. It is being recommended that patients are referred to an expert centre for further evaluation if they meet at least one of the following criteria: (1) thoracic aortic dissection (<70 years if hypertensive; all ages if non-hypertensive), (2) thoracic aortic aneurysm (all adults with Z score >3.5 or 2.5-3.5 if non-hypertensive or hypertensive and <60 years; all children with Z score >3), (3) family history of HTAD with/without a pathogenic variant in a gene linked to HTAD, (4) ectopia lentis without other obvious explanation and (5) a systemic score of >5 in adults and >3 in children. Aortic imaging primarily relies on transthoracic echocardiography with magnetic resonance imaging or computed tomography as needed. Genetic testing should be considered in those with a high suspicion of underlying genetic aortopathy. Though panels vary among centers, for patients with thoracic aortic aneurysm or dissection or systemic features these should include genes with a definitive or strong association to HTAD. Genetic cascade screening and serial aortic imaging should be considered for family screening and follow-up. In conclusion, the implementation of these strategies should help standardise the diagnostic work-up and follow-up of patients with suspected HTAD and the screening of their relatives.
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Aneurisma de la Aorta Torácica , Disección Aórtica , Adulto , Niño , Humanos , Pruebas Genéticas , Aneurisma de la Aorta Torácica/genética , Atención al PacienteRESUMEN
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.
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The main challenge in diagnosing and managing thoracic aortic aneurysm and dissection (TAA/D) is represented by the early detection of a disease that is both deadly and "elusive", as it generally grows asymptomatically prior to rupture, leading to death in the majority of cases. Gender differences exist in aortic dissection in terms of incidence and treatment options. Efforts have been made to identify biomarkers that may help in early diagnosis and in detecting those patients at a higher risk of developing life-threatening complications. As soon as the hereditability of the TAA/D was demonstrated, several genetic factors were found to be associated with both the syndromic and non-syndromic forms of the disease, and they currently play a role in patient diagnosis/prognosis and management-guidance purposes. Likewise, circulating biomarker could represent a valuable resource in assisting the diagnosis, and several studies have attempted to identify specific molecules that may help with risk stratification outside the emergency department. Even if promising, those data lack specificity/sensitivity, and, in most cases, they need more testing before entering the "clinical arena". This review summarizes the state of the art of the laboratory in TAA/D diagnostics, with particular reference to the current and future role of molecular-genetic testing.
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Cardiac involvement has been described during the course of SARS-CoV-2 disease (COVID-19), with different manifestations. Several series have reported only increased cardiac troponin without ventricular dysfunction, others the acute development of left or right ventricular dysfunction, and others myocarditis. Ventricular dysfunction can be of varying degrees and may recover completely in some cases. Generally, conventional echocardiography is used as a first approach to evaluate cardiac dysfunction in patients with COVID-19, but, in some cases, this approach may be silent and more advanced cardiac imaging techniques, such as myocardial strain imaging or cardiac magnetic resonance, are necessary to document alterations in cardiac structure or function. In this review we sought to discuss the information provided by different cardiac imaging techniques in patients with COVID-19, both in the acute phase of the disease and after discharge from hospital, and their diagnostic and prognostic role. We also aimed at verifying whether a specific form of cardiac disease due to the SARS-CoV-2 can be identified.
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We present the case of a 77-years-old man with aortic valve stenosis (AS) and reduced left ventricular ejection fraction, in whom right parasternal view provided the best hemodynamic evaluation of AS severity during dobutamine stress echocardiography.
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Estenosis de la Válvula Aórtica , Ecocardiografía de Estrés , Anciano , Válvula Aórtica/diagnóstico por imagen , Estenosis de la Válvula Aórtica/diagnóstico por imagen , Dobutamina , Humanos , Masculino , Índice de Severidad de la Enfermedad , Volumen Sistólico , Función Ventricular IzquierdaRESUMEN
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.
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Síndrome de Loeys-Dietz , Síndrome de Marfan , Humanos , Síndrome de Marfan/complicaciones , MiocardioRESUMEN
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.
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Deleción Cromosómica , Síndrome de Loeys-Dietz/diagnóstico , Síndrome de Marfan/diagnóstico , Factor de Crecimiento Transformador beta2/genética , Diagnóstico Diferencial , Femenino , Humanos , Síndrome de Loeys-Dietz/genética , Masculino , Síndrome de Marfan/genética , LinajeRESUMEN
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 <.20 cm2 in 158 (89%). NYHA III-IV patients showed higher prevalence of MR (78% vs 21%, P < 0.0001) and larger EROA (.13±.08 cm2 vs .09±.07 cm2 , P < 0.0001). An association between EROA and symptoms was present in the total cohort and in subgroups with preserved LVEF, AVA ≥ 1 and <1 cm2 , EE' 8-14 and ≥14 (P < 0.05 for all). EROA was associated with severe symptoms after adjustment for LVEF, E/E', and AVA in the overall population (OR 1.10 [1.06-1.15]; P < 0.0001) and in the 516 patients with preserved LVEF (OR 1.13 [1.08-1.19]; P < 0.0001). CONCLUSION: In patients with AS, greater EROA values are associated with HF symptoms, even though MR degree is far from the threshold of MR severity. Therefore, even a mild MR represents a supportive marker of HF symptoms presence.
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Estenosis de la Válvula Aórtica , Insuficiencia de la Válvula Mitral , Estenosis de la Válvula Aórtica/complicaciones , Estenosis de la Válvula Aórtica/diagnóstico por imagen , Humanos , Válvula Mitral , Insuficiencia de la Válvula Mitral/complicaciones , Insuficiencia de la Válvula Mitral/diagnóstico por imagen , Índice de Severidad de la Enfermedad , Volumen Sistólico , Función Ventricular IzquierdaRESUMEN
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.