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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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Cardiologia , Ecocardiografia , Sociedades Médicas , Medicina Esportiva , Humanos , Ecocardiografia/métodos , Ecocardiografia/normas , Medicina Esportiva/métodos , Medicina Esportiva/normas , Itália , Sociedades Médicas/normas , Cardiologia/normas , Cardiologia/métodos , Morte Súbita Cardíaca/prevenção & controle , Atletas , Prova Pericial/métodos , Prova Pericial/normas , Esportes/fisiologia , Doenças Cardiovasculares/diagnóstico por imagemAssuntos
Disfunção Ventricular Esquerda , Humanos , Disfunção Ventricular Esquerda/fisiopatologia , Disfunção Ventricular Esquerda/diagnóstico por imagem , Cardiomiopatias/fisiopatologia , Cardiomiopatias/complicações , Cardiomiopatias/diagnóstico por imagem , Miocárdio Ventricular não Compactado Isolado/complicações , Miocárdio Ventricular não Compactado Isolado/fisiopatologia , Miocárdio Ventricular não Compactado Isolado/diagnóstico por imagem , SístoleRESUMO
Arrhythmogenic cardiomyopathy (ACM) is an inherited myocardial disease at risk of sudden death. Genetic testing impacts greatly in ACM diagnosis, but gene-disease associations have yet to be determined for the increasing number of genes included in clinical panels. Genetic variants evaluation was undertaken for the most relevant non-desmosomal disease genes. We retrospectively studied 320 unrelated Italian ACM patients, including 243 cases with predominant right-ventricular (ARVC) and 77 cases with predominant left-ventricular (ALVC) involvement, who did not carry pathogenic/likely pathogenic (P/LP) variants in desmosome-coding genes. The aim was to assess rare genetic variants in transmembrane protein 43 (TMEM43), desmin (DES), phospholamban (PLN), filamin c (FLNC), cadherin 2 (CDH2), and tight junction protein 1 (TJP1), based on current adjudication guidelines and reappraisal on reported literature data. Thirty-five rare genetic variants, including 23 (64%) P/LP, were identified in 39 patients (16/243 ARVC; 23/77 ALVC): 22 FLNC, 9 DES, 2 TMEM43, and 2 CDH2. No P/LP variants were found in PLN and TJP1 genes. Gene-based burden analysis, including P/LP variants reported in literature, showed significant enrichment for TMEM43 (3.79-fold), DES (10.31-fold), PLN (117.8-fold) and FLNC (107-fold). A non-desmosomal rare genetic variant is found in a minority of ARVC patients but in about one third of ALVC patients; as such, clinical decision-making should be driven by genes with robust evidence. More than two thirds of non-desmosomal P/LP variants occur in FLNC.
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Displasia Arritmogênica Ventricular Direita , Humanos , Displasia Arritmogênica Ventricular Direita/genética , Feminino , Masculino , Adulto , Pessoa de Meia-Idade , Proteínas de Membrana/genética , Caderinas/genética , Desmossomos/genética , Desmossomos/metabolismo , Predisposição Genética para Doença , Variação Genética , Filaminas/genética , Estudos Retrospectivos , Itália , Proteínas de Ligação ao Cálcio/genética , Antígenos CD/genéticaAssuntos
Teste de Esforço , Complexos Ventriculares Prematuros , Humanos , Complexos Ventriculares Prematuros/diagnóstico , Complexos Ventriculares Prematuros/fisiopatologia , Teste de Esforço/métodos , Incidência , Masculino , Feminino , Adulto , Eletrocardiografia , Morte Súbita Cardíaca/prevenção & controle , Programas de Rastreamento/métodosRESUMO
OBJECTIVE: To evaluate the efficacy and safety of sliding osteotomy of the lateral epicondyle in correcting rigid valgus deformity in knee arthroplasty. METHODS: A retrospective study of patients undergoing total knee arthroplasty with lateral epicondyle sliding osteotomy between 2006 and 2018. The main outcome was the incidence of complications and adverse events. Secondary outcomes were Visual Analog Scale for Pain, varus stress test, and varus knee thrust during gait. RESULTS: 19 knees (19 participants) were included in the study. The mean follow-up was 4.2 years. There were no cases of infection or reoperation due to instability. Two participants (10.5%) had mild or moderate knee pain (VAS pain = 4.6 ± 1.9). Two arthroplasties (10.5%) had mild varus stress. No participant presented varus thrust. CONCLUSION: Sliding osteotomy of the lateral epicondyle allows fast and safe ligament balance of knee valgus deformities. Level of Evidence I, Case series.
Avaliar a eficácia e a segurança da osteotomia de deslizamento do epicôndilo lateral na correção da deformidade em valgo rígida na artroplastia de joelho. Métodos: Estudo retrospectivo de pacientes submetidos à artroplastia total do joelho com osteotomia de deslizamento do epicôndilo lateral entre 2006 e 2018. O principal desfecho foi a incidência de complicações e eventos adversos. Os desfechos secundários foram escala visual analógica para dor, teste de estresse em varo e flambagem em varo do joelho durante a marcha. Resultados: Foram incluídos no estudo 19 joelhos (19 participantes). O seguimento médio foi de 4,2 anos. Não houve nenhum caso de infecção ou reoperação devido à instabilidade. Dois participantes (10,5%) apresentaram algum tipo de dor leve ou moderada no joelho (EVA = 4,6 ± 1,9). Duas artroplastias (10,5%) apresentaram estresse em varo leve. Nenhum participante apresentou flambagem em varo. Conclusão: A osteotomia de deslizamento do epicôndilo lateral possibilitou o balanço ligamentar das deformidades em valgo do joelho de forma rápida e segura. Nível de Evidência IV, Série de Casos.
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AIMS: Low QRS Voltages (LQRSV) in limb leads and QRS fragmentation (FQRS) are possible electrocardiographic signs of myocardial fibrosis and cardiomyopathy, but they are not listed in current criteria for interpretating athlete's ECG. We investigated the prevalence and determinants of LQRSV and FQRS in a cohort of young apparently healthy athletes undergoing preparticipation screening (PPS). METHODS: We analysed a consecutive series of 2140 ECG obtained during PPS of young athletes (mean age 12.5±2.6 years, 7-18 year-old, 49% males). The peak-to-peak QRS voltage was measured in all limb leads and LQRSV were defined when maximum value was <0.5 mV. Fragmented QRS morphologies were grouped into five patterns. Lead aVR was not considered. RESULTS: Maximum peak-to-peak QRS voltage in limb leads was 1.4±0.4 mV, similar between younger and older athletes, but significantly lower in females than males (1.35±0.38mV vs 1.45±0.42mV; p<0.001). There was a weak correlation between maximal QRS voltages and body mass index (BMI), but not with type of sport or training load. Only 5 (0.2%) individuals showed LQRSV. At least one fragmented QRS complex was identified in 831 (39%) individuals but excluding the rSr' pattern in V1-V2, only 10 (0.5%) showed FQRS in ≥2 contiguous leads. They were older than those without FQRS, but did not differ in terms of gender, BMI, type of sport or training load. CONCLUSIONS: LQRSV in limb leads and FQRSV in ≥2 contiguous leads excluding V1-V2 are rare in young apparently healthy athletes and are not related to the type and intensity of sport activity. Therefore, they may require additional testing to rule out an underlying disease particularly when other abnormalities are present.
Low QRS Voltages (LQRSV) in limb leads and QRS fragmentation (FQRS) are possible electrocardiographic signs of myocardial fibrosis and cardiomyopathy. In our study, we analyzed the occurrence and characteristics of FQRS and LQRSV in young athletes undergoing preparticipation screening. We found a low prevalence of these abnormalities, with only 0.2% showing LQRSV and 0.5% displaying FQRS. These abnormalities were not associated with factors such as gender, age, type of sport, or training load.
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OBJECTIVES: Anomalous aortic origin of a coronary artery (AAOCA) is a group of rare congenital heart defects with various clinical presentations. The lifetime-risk of an individual living with AAOCA is unknown, and data from multicentre registries are urgently needed to adapt current recommendations and guide optimal patient management. The European AAOCA Registry (EURO-AAOCA) aims to assess differences with regard to AAOCA management between centres. METHODS: EURO-AAOCA is a prospective, multicentre registry including 13 European centres. Herein, we evaluated differences in clinical presentations and management, treatment decisions and surgical outcomes across centres from January 2019 to June 2023. RESULTS: A total of 262 AAOCA patients were included, with a median age of 33 years (12-53) with a bimodal distribution. One hundred thirty-nine (53.1%) were symptomatic, whereas chest pain (n = 74, 53.2%) was the most common complaint, followed by syncope (n = 21, 15.1%). Seven (5%) patients presented with a myocardial infarction, 2 (1.4%) with aborted sudden cardiac death. Right-AAOCA was most frequent (150, 57.5%), followed by left-AAOCA in 51 (19.5%), and circumflex AAOCA in 20 (7.7%). There were significant differences regarding diagnostics between age groups and across centres. Seventy-four (28.2%) patients underwent surgery with no operative deaths; minor postoperative complications occurred in 10 (3.8%) cases. CONCLUSIONS: Currently, no uniform agreement exists among European centres with regard to diagnostic protocols and clinical management for AAOCA variants. Although surgery is a safe procedure in AAOCA, future longitudinal outcome data will hopefully shed light on how to best decide towards optimal selection of patients undergoing revascularization versus conservative treatment.
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BACKGROUND: Chronic joint pain is a significant and widespread symptom in people with haemophilia (PWH). Despite medical advancements, effective pain management remains challenging. AIM: This study presents an innovative approach that integrates remote physical exercises, pain neuroscience education, and coping strategies to address chronic pain in PWH. METHODS: The remote intervention consisted of sixteen 5-min videos encompassing physical exercises for chronic pain management and pain education strategies. These videos formed an 8-week remote intervention program. Clinical and physical assessments were conducted before and after the intervention. RESULTS: A total of thirty-one PWHs, with a median age of 34 years (ranging from 16 to 59 years), completed the remote intervention. The study revealed significant improvements in pain intensity, disability, and physical performance among PWH with chronic pain. Enhanced functional capacity was evident in the Timed Up and Go and Single Leg Stance tests, accompanied by improved scores on the Functional Independence Score in Haemophilia (FISH). Although lacking a control group, our findings are consistent with other successful exercise and pain education programs. CONCLUSIONS: This innovative intervention holds promise for managing chronic pain in PWH, underscoring patient empowerment, education, and collaboration. Notably, our study stands out by uniquely combining pain education and coping strategies, bolstering evidence for effective pain management.
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Dor Crônica , Capacidades de Enfrentamento , Terapia por Exercício , Hemofilia A , Manejo da Dor , Adolescente , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem , Dor Crônica/psicologia , Dor Crônica/terapia , Terapia por Exercício/métodos , Hemofilia A/complicações , Hemofilia A/psicologia , Hemofilia A/terapia , Manejo da Dor/métodos , Educação de Pacientes como AssuntoRESUMO
BACKGROUND: Mitral valve prolapse (MVP) may be associated with ventricular arrhythmias (VA) even in the absence of significant valvular regurgitation. Curling, mitral annulus disjunction (MAD) and myocardial fibrosis (late gadolinium enhancement [LGE]) may account for arrhythmogenesis. OBJECTIVES: This study investigated the determinants of VA in patients with MVP without significant regurgitation. METHODS: This study included 108 patients with MVP (66 female; median age: 48 years) without valve regurgitation. All patients underwent 12-lead electrocardiography, 12-lead 24-hour electrocardiographic Holter monitoring, exercise stress test, and cardiac magnetic resonance. Patients were divided into 2 groups (arrhythmic and no-arrhythmic MVP), according to the presence of VA with a right bundle branch block pattern. RESULTS: The 62 patients (57%) with arrhythmic MVP showed: 1) higher MAD (median length: 6.0 vs 3.2 mm; P = 0.017); 2) higher prevalence of curling (79% vs 52%; P = 0.012); and 3) higher prevalence of left ventricular LGE (79% vs 52%; P = 0.012). Mediation analysis showed that curling had both a direct (P = 0.03) and indirect effect mediated by LGE (P = 0.04) on VA, whereas the association between MAD and VA was completely mediated by LGE. Patients with severe VA showed more pronounced morphofunctional alterations, in terms of MAD (7.0 vs 4.6 mm; P = 0.004) and presence and severity of curling (respectively, 91% vs 64%; P = 0.010; and 4 vs 3 mm; P = 0.004), compared to those without severe VA. CONCLUSIONS: In patients with MVP the occurrence of VA with right bundle branch block morphology is the expression of more severe morphologic, mechanical, and tissue alterations. Curling has both a direct and an indirect effect on VA.
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Arritmias Cardíacas , Prolapso da Valva Mitral , Humanos , Feminino , Pessoa de Meia-Idade , Prolapso da Valva Mitral/fisiopatologia , Prolapso da Valva Mitral/diagnóstico por imagem , Prolapso da Valva Mitral/complicações , Masculino , Adulto , Arritmias Cardíacas/fisiopatologia , Arritmias Cardíacas/epidemiologia , Eletrocardiografia , Imageamento por Ressonância Magnética , Eletrocardiografia Ambulatorial , Teste de Esforço , IdosoRESUMO
BACKGROUND: In recent years, it has become evident that arrhythmogenic cardiomyopathy (ACM) displays a wide spectrum of ventricular involvement. Furthermore, the influence of various clinical phenotypes on the prognosis of the disease is currently being assessed. OBJECTIVES: The purpose of this study was to evaluate the impact of phenotypic expression in ACM on patient outcomes. METHODS: We conducted an analysis of 446 patients diagnosed with ACM. These patients were categorized into 3 groups based on their phenotype: arrhythmogenic right ventricular cardiomyopathy (ARVC) (right-dominant ACM), arrhythmogenic left ventricular cardiomyopathy (ALVC) (left-dominant ACM), and biventricular arrhythmogenic cardiomyopathy (BIV). We compared clinical, instrumental, and genetic findings among these groups and also evaluated their outcomes RESULTS: Overall, 44% of patients were diagnosed with ARVC, 23% with ALVC, and 33% with BIV forms. Subjects showing with ARVC and BIV phenotype had a significantly higher incidence of life-threatening ventricular arrhythmias compared with ALVC (P < 0.001). On the other hand, heart failure, heart transplantation, and death caused by cardiac causes were more frequent in individuals with BIV forms compared to those with ALVC and ARVC (P < 0.001). Finally, patients with an ALVC phenotype had a higher incidence of hot phases compared with those with ARVC and BIV forms (P = 0.013). CONCLUSIONS: The comparison of ACM phenotypes demonstrated that patients with right ventricular involvement, such as ARVC and BIV forms, exhibit a higher incidence of life-threatening ventricular arrhythmias. Conversely, ACM forms characterized by left ventricular involvement, such as ALVC and BIV, show a higher incidence of heart failure, heart transplantation, and hot phases.
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Displasia Arritmogênica Ventricular Direita , Cardiomiopatias , Insuficiência Cardíaca , Humanos , Arritmias Cardíacas/epidemiologia , Arritmias Cardíacas/genética , Arritmias Cardíacas/diagnóstico , Cardiomiopatias/genética , Insuficiência Cardíaca/epidemiologia , FenótipoRESUMO
Background: In young competitive athletes, ventricular arrhythmias could be a reason for concern as they may represent the sign of a serious underlying cardiac condition. On the other hand, atrial or conduction system premature beats are usually benign. However, when the properties of the His-Purkinje system lead to conduction aberrancies, there is a risk of misinterpreting benign arrhythmias as potentially at risk ventricular ectopic beats. Case summary: We described the case of a healthy young athlete with asymptomatic interpolated junctional ectopic beats interpreted as polymorphic ventricular tachycardia during pre-participation screening. Discussion: Strange and rare electrocardiogram pictures may be observed during sport pre-participation screening. The small atrioventricular (AV) junction is made up of many specialized fibres with different conduction properties. Junctional arrhythmias can have a normal anterograde conduction or can be conducted with aberrancy. Rarely, they can be interpolated and cause PR prolongation or bundle branch block by increasing the refractory period of the AV node and/or the conduction system. When aberrancy occurs, they can be mistaken for 'atypical' ventricular arrhythmias. Prognosis of these events remains uncertain.
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AIMS: Right bundle branch block (RBBB) morphology non-sustained ventricular arrhythmias (VAs) have been associated with the presence of non-ischaemic left ventricular scar (NLVS) in athletes. The aim of this cross-sectional study was to identify clinical and electrocardiogram (ECG) predictors of the presence of NLVS in athletes with RBBB VAs. METHODS AND RESULTS: Sixty-four athletes [median age 39 (24-53) years, 79% males] with non-sustained RBBB VAs underwent cardiac magnetic resonance (CMR) with late gadolinium enhancement in order to exclude the presence of a concealed structural heart disease. Thirty-six athletes (56%) showed NLVS at CMR and were assigned to the NLVS positive group, whereas 28 athletes (44%) to the NLVS negative group. Family history of cardiomyopathy and seven different ECG variables were statistically more prevalent in the NLVS positive group. At univariate analysis, seven ECG variables (low QRS voltages in limb leads, negative T waves in inferior leads, negative T waves in limb leads I-aVL, negative T waves in precordial leads V4-V6, presence of left posterior fascicular block, presence of pathologic Q waves, and poor R-wave progression in right precordial leads) proved to be statistically associated with the finding of NLVS; these were grouped together in a score. A score ≥2 was proved to be the optimal cut-off point, identifying NLVS athletes in 92% of cases and showing the best accuracy (86% sensitivity and 100% specificity, respectively). However, a cut-off ≥1 correctly identified all patients with NLVS (absence of false negatives). CONCLUSION: In athletes with RBBB morphology non-sustained VAs, specific ECG abnormalities at 12-lead ECG can help in detecting subjects with NLVS at CMR.
In athletes with right bundle branch block (RBBB) morphology non-sustained ventricular arrhythmias (VAs), the presence of a non-ischaemic left ventricular scar (NLVS) may be highly suspected if one or more of the following electrocardiogram (ECG) characteristics are present at the 12-lead resting ECG: low QRS voltages in limb leads, negative T waves in inferior leads, negative T waves in limb leads IaVL, negative T waves in precordial leads V4V6, presence of left posterior fascicular block, presence of pathologic Q waves, and poor R-wave progression in right precordial leads. This score should be externally validated in a larger population of athletes with VAs. In athletes with RBBB morphology non-sustained Vas, attention should be placed on the 12-lead resting ECG to suspect the presence of an NLVS. In athletes with RBBB VAs and the presence of one or more of the identified ECG characteristics, a cardiac magnetic resonance with late gadolinium enhancement is useful to rule out an NLVS.
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Bloqueio de Ramo , Complexos Ventriculares Prematuros , Masculino , Humanos , Adulto , Feminino , Bloqueio de Ramo/diagnóstico , Bloqueio de Ramo/etiologia , Complexos Ventriculares Prematuros/diagnóstico , Complexos Ventriculares Prematuros/etiologia , Cicatriz/patologia , Meios de Contraste , Estudos Transversais , Gadolínio , EletrocardiografiaRESUMO
The integration of artificial intelligence (AI) technologies is evolving in different fields of cardiology and in particular in sports cardiology. Artificial intelligence offers significant opportunities to enhance risk assessment, diagnosis, treatment planning, and monitoring of athletes. This article explores the application of AI in various aspects of sports cardiology, including imaging techniques, genetic testing, and wearable devices. The use of machine learning and deep neural networks enables improved analysis and interpretation of complex datasets. However, ethical and legal dilemmas must be addressed, including informed consent, algorithmic fairness, data privacy, and intellectual property issues. The integration of AI technologies should complement the expertise of physicians, allowing for a balanced approach that optimizes patient care and outcomes. Ongoing research and collaborations are vital to harness the full potential of AI in sports cardiology and advance our management of cardiovascular health in athletes.
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Cardiologia , Cardiomegalia Induzida por Exercícios , Esportes , Humanos , Inteligência Artificial , Cardiologia/métodos , Redes Neurais de ComputaçãoRESUMO
OBJECTIVE: Evidence on the increased risk of sports-related sudden cardiac arrest and death (SCA/D) and the potential benefit of cardiovascular preparticipation screening (PPS) in children is limited. We assessed the burden and circumstances of SCA/D and the diagnostic yield of cardiovascular PPS in children aged 8-15 years. METHODS: Data on the incidence and causes of SCA/D from 2011 to 2020 were obtained from the Veneto region (Italy) sudden death registry, hospital records and local press. During the same period, we assessed the results of annual PPS in 25 251 young competitive athletes aged 8-15 years who underwent 58 185 evaluations (mean 2.3/athlete) in Padua, Italy. RESULTS: Over 10 years, 26 SCA/D occurred in children aged 8-15 years in the Veneto region: 6 in athletes (incidence 0.7/100 000/year, all ≥12 years) versus 20 in non-athletes (0.7/100 000/year, 17/20 ≥12 years). In total, 4/6 athletes versus 1/20 non-athletes survived. The cause of SCA/D remained unexplained in four athletes and in nine non-athletes. No athlete suffered SCA/D from structural diseases potentially identifiable by PPS. The incidence of SCA/D in athletes and non-athletes was 0.2/100 000/year in the 8-11 years group versus 1.3/100 000/year in the 12-15 years group. PPS identified 26 new diagnoses of cardiovascular diseases (CVDs) at risk of SCA/D, more often in children ≥12 years old (0.06%/evaluation) than <12 years old (0.02%/evaluation, p=0.02). Among athletes with a negative PPS, two suffered unexplained SCA/D during follow-up, one during exercise. CONCLUSIONS: In children aged 8-15 years, the incidence of SCA/D and the yield of PPS for identifying at-risk CVD were both substantially higher in those ≥12 years, suggesting that systematic PPS may be more useful beyond this age.