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Transcatheter aortic valve replacement (TAVR) is a widely used intervention for patients with severe aortic stenosis. Identifying high-risk patients is crucial due to potential postprocedural complications. Currently, this involves manual clinical assessment and time-consuming radiological assessment of preprocedural computed tomography (CT) images by an expert radiologist. In this study, we introduce a probabilistic model that predicts post-TAVR mortality automatically using unprocessed, preprocedural CT and 25 baseline patient characteristics. The model utilizes CT volumes by automatically localizing and extracting a region of interest around the aortic root and ascending aorta. It then extracts task-specific features with a 3D deep neural network and integrates them with patient characteristics to perform outcome prediction. As missing measurements or even missing CT images are common in TAVR planning, the proposed model is designed with a probabilistic structure to allow for marginalization over such missing information. Our model demonstrates an AUROC of 0.725 for predicting all-cause mortality during postprocedure follow-up on a cohort of 1449 TAVR patients. This performance is on par with what can be achieved with lengthy radiological assessments performed by experts. Thus, these findings underscore the potential of the proposed model in automatically analyzing CT volumes and integrating them with patient characteristics for predicting mortality after TAVR.
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Estenose da Valva Aórtica , Tomografia Computadorizada por Raios X , Substituição da Valva Aórtica Transcateter , Humanos , Substituição da Valva Aórtica Transcateter/mortalidade , Substituição da Valva Aórtica Transcateter/métodos , Tomografia Computadorizada por Raios X/métodos , Feminino , Masculino , Idoso de 80 Anos ou mais , Estenose da Valva Aórtica/cirurgia , Estenose da Valva Aórtica/mortalidade , Estenose da Valva Aórtica/diagnóstico por imagem , IdosoRESUMO
AIMS: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is characterized by progressive myocardial dysfunction and associated with an increased risk of major cardiovascular (CV) events. To determine right heart strain (ventricular and atrial global longitudinal strain (RVGLS and RAGLS) in patients with definite ARVC and its association with adverse events during follow-up. METHODS AND RESULTS: RVGLS and RAGLS were analysed in focused right heart apical views from 70 patients using TomTec ImageArena and association with a composite endpoint was determined (sustained ventricular arrhythmia and cardiovascular death). Over a median follow-up duration of 4.9 years, 26 (37%) patients met the endpoint. RVGLS was significantly impaired in the event group (-11.5 [-13.3 to -10.2] %) vs. the no-event group (-15.8 [-17.1 to -14.5] %, P < 0.001), and so was RAGLS (22.8 [21.4-27.4] % vs. 31.5 [25.1-39.6] %, respectively, P < 0.001). In Cox regression, RVGLS (HR 1.36, P < 0.001) and RAGLS (HR 0.92, P = 0.002) were associated with a higher risk of adverse events. In multivariable Cox regression models, RVGLS and RAGLS remained independent of and were incremental to age, gender, and conventional RV parameters, and model fitness was improved when RVGLS and RAGLS were applied together rather than alone. CONCLUSION: RVGLS and RAGLS are more impaired in patients with adverse events and associated with adverse events independent of age, gender, and conventional RV parameters. When RVGLS and RAGLS are applied together, prediction models are improved suggesting that right heart strain may form part of the echocardiographic routine protocol in patients with ARVC.
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Displasia Arritmogênica Ventricular Direita , Humanos , Displasia Arritmogênica Ventricular Direita/diagnóstico por imagem , Displasia Arritmogênica Ventricular Direita/fisiopatologia , Masculino , Feminino , Pessoa de Meia-Idade , Adulto , Medição de Risco , Prognóstico , Estudos de Coortes , Disfunção Ventricular Direita/diagnóstico por imagem , Disfunção Ventricular Direita/fisiopatologia , Seguimentos , Imagem Cinética por Ressonância Magnética/métodos , Estudos Retrospectivos , Modelos de Riscos ProporcionaisRESUMO
Cardiac imaging plays a pivotal role in the diagnosis and management of cardiovascular diseases. In the burgeoning landscape of digital technology and social media platforms, it becomes essential for cardiac imagers to know how to effectively increase the visibility and the impact of their activity. With the availability of social sites like X (formerly Twitter), Instagram, and Facebook, cardiac imagers can now reach a wider audience and engage with peers, sharing their findings, insights, and discussions. The integration of persistent identifiers, such as digital object identifiers (DOIs), facilitates traceability and citation of cardiac imaging publications across various digital platforms, further enhancing their discoverability. To maximize visibility, practical advice is provided, including the use of visually engaging infographics and videos, as well as the strategic implementation of relevant hashtags and keywords. These techniques can significantly improve the discoverability of cardiac imaging research through search engine optimization and social media algorithms. Tracking impact and engagement is crucial in the digital age, and this review discusses various metrics and tools to gauge the reach and influence of cardiac imaging publications. This includes traditional citation-based metrics and altmetrics. Moreover, this review underscores the importance of creating and updating professional profiles on social platforms and participating in relevant scientific communities online. The adoption of digital technology, social platforms, and a strategic approach to publication sharing can empower cardiac imaging professionals to enhance the visibility and impact of their research, ultimately advancing the field and improving patient care.
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Mídias Sociais , Humanos , Técnicas de Imagem Cardíaca , Disseminação de Informação/métodos , Doenças Cardiovasculares/diagnóstico por imagemRESUMO
INTRODUCTION: Echocardiography is used for assessment of patients after transcatheter aortic valve implantation (TAVI). Global work index (GWI) integrates LV deformation throughout the cardiac cycle and LV afterload and may be advantageous for long-term follow-up. METHODS: We analysed 144 patients with severe aortic stenosis who underwent TAVI and echocardiography within two weeks afterwards. GE EchoPAC v2.6 was applied for determining LV ejection fraction, global longitudinal strain (GLS), stroke work (SW), cardiac power output (CPO), and GWI. The endpoint was cardiovascular mortality. RESULTS: During median follow-up of 625 [IQR: 511-770] days, 20 (14%) patients died. Clinical baseline characteristics were comparable between non-survivors and survivors. GWI (p = 0.003) and LVEF (p = 0.039) were lower in non-survivors, while GLS, SW, and CPO were not different. In Kaplan-Meier analysis patients with GWI ≤1234 mmHg% exhibited a lower survival probability (P = 0.006). In univariable Cox regression, a significant mortality association was identified for GWI (P = 0.004), weaker for LVEF (P = 0.014), but not for the other parameters. In multivariable Cox regression, GWI independently improved an LV systolic function model including LVEF and GLS. Similarly, GWI but not LVEF independently improved outcome association of different clinical models. CONCLUSIONS: GWI was lower in non-survivors than survivors, differentiated non-survivors from survivors, was associated with mortality independent of clinical or LV parameters, and improved the fitness of clinical or LV prediction models. In contrast, GLS, SW, and CPO did not show any of these properties. GWI provides added value for follow-up after TAVI possibly by integrating LV deformation throughout the cardiac cycle.
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Estenose da Valva Aórtica , Substituição da Valva Aórtica Transcateter , Disfunção Ventricular Esquerda , Humanos , Resultado do Tratamento , Volume Sistólico , Estenose da Valva Aórtica/diagnóstico por imagem , Estenose da Valva Aórtica/cirurgia , Estudos Retrospectivos , Função Ventricular Esquerda , Valva Aórtica/cirurgiaRESUMO
Introduction: This study aims at exploring biventricular remodelling and its implications for outcome in a representative patient cohort with severe aortic stenosis (AS) undergoing transcatheter aortic valve implantation (TAVI). Methods and results: Pre-interventional echocardiographic examinations of 100 patients with severe AS undergoing TAVI were assessed by speckle tracking echocardiography of both ventricles. Association with mortality was determined for right ventricular global longitudinal strain (RVGLS), RV free wall strain (RVFWS) and left ventricular global longitudinal strain (LVGLS). During a median follow-up of 1,367 [959-2,123] days, 33 patients (33%) died. RVGLS was lower in non-survivors [-13.9% (-16.4 to -12.9)] than survivors [-17.1% (-20.2 to -15.2); P = 0.001]. In contrast, LVGLS as well as the conventional parameters LV ejection fraction (LVEF) and RV fractional area change (RVFAC) did not differ (P = ns). Kaplan-Meier analyses indicated a reduced survival probability when RVGLS was below the -14.6% cutpoint (P < 0.001). Lower RVGLS was associated with higher mortality [HR 1.13 (95% CI 1.04-1.23); P = 0.003] independent of LVGLS, LVEF, RVFAC, and EuroSCORE II. Addition of RVGLS clearly improved the fitness of bivariable and multivariable models including LVGLS, LVEF, RVFAC, and EuroSCORE II with potential incremental value for mortality prediction. In contrast, LVGLS, LVEF, and RVFAC were not associated with mortality. Discussion: In patients with severe AS undergoing TAVI, RVGLS but not LVGLS was reduced in non-survivors compared to survivors, differentiated non-survivors from survivors, was independently associated with mortality, and exhibited potential incremental value for outcome prediction. RVGLS appears to be more suitable than LVGLS for risk stratification in AS and timely valve replacement.
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AIMS: Hypertrophic cardiomyopathy (HCM) is characterized by phenotypic heterogeneity that is partly explained by the diversity of genetic variants contributing to disease. Accurate interpretation of these variants constitutes a major challenge for diagnosis and implementing precision medicine, especially in understudied populations. The aim is to define the genetic architecture of HCM in North African cohorts with high consanguinity using ancestry-matched cases and controls. METHODS AND RESULTS: Prospective Egyptian patients (n = 514) and controls (n = 400) underwent clinical phenotyping and genetic testing. Rare variants in 13 validated HCM genes were classified according to standard clinical guidelines and compared with a prospective HCM cohort of majority European ancestry (n = 684). A higher prevalence of homozygous variants was observed in Egyptian patients (4.1% vs. 0.1%, P = 2 × 10-7), with variants in the minor HCM genes MYL2, MYL3, and CSRP3 more likely to present in homozygosity than the major genes, suggesting these variants are less penetrant in heterozygosity. Biallelic variants in the recessive HCM gene TRIM63 were detected in 2.1% of patients (five-fold greater than European patients), highlighting the importance of recessive inheritance in consanguineous populations. Finally, rare variants in Egyptian HCM patients were less likely to be classified as (likely) pathogenic compared with Europeans (40.8% vs. 61.6%, P = 1.6 × 10-5) due to the underrepresentation of Middle Eastern populations in current reference resources. This proportion increased to 53.3% after incorporating methods that leverage new ancestry-matched controls presented here. CONCLUSION: Studying consanguineous populations reveals novel insights with relevance to genetic testing and our understanding of the genetic architecture of HCM.
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Cardiomiopatia Hipertrófica , Etnicidade , Humanos , Consanguinidade , Estudos Prospectivos , Testes Genéticos , Cardiomiopatia Hipertrófica/diagnóstico , MutaçãoRESUMO
Coarctation of the aorta (CoA) accounts for approximately 5-8% of all congenital heart defects. Depending on the severity of the CoA and the presence of associated cardiac lesions, the clinical presentation and age vary. Developments in diagnosis and management have improved outcomes in this patient population. Even after timely repair, it is important to regularly screen for hypertension. Patients with CoA require lifelong follow-up with a congenital heart disease specialist as these patients may develop recoarctation and complications at the repair site and remain at enhanced cardiovascular risk throughout their lifetime.
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AIMS: Association of two-(2D) and three-dimensional (3D) left atrial strain (LAS) and low-voltage area (LVA) with recurrence of atrial fibrillation (AF) after pulmonary vein isolation (PVI) was assessed. METHODS AND RESULTS: 3D LAS, 2D LAS, and LVA were obtained in 93 consecutive patients undergoing PVI and recurrence of AF was analyzed prospectively. AF recurred in 12 patients (13%). The 3D left atrial reservoir strain (LARS) and pump strain (LAPS) were lower in patients with recurrent AF than without (p = 0.008 and p = 0.009, respectively). In univariable Cox regression, 3D LARS or LAPS were associated with recurrent AF (LARS: HR = 0.89 (0.81-0.99), p = 0.025; LAPS: HR = 1.40 (1.02-1.92), p = 0.040), while other values were not. Association of 3D LARS or LAPS with recurrent AF was independent of age, body mass index, arterial hypertension, left ventricular ejection fraction, and end-diastolic volume index and left atrial volume index in multivariable models. Kaplan-Meier curves revealed that patients with 3D LAPS < -5.9% did not exhibit recurrent AF, while those >-5.9% had a significant risk of recurrent AF. CONCLUSIONS: 3D LARS and LAPS were associated with recurrent AF after PVI. Association of 3D LAS was independent of relevant clinical and echocardiographic parameters and improved their predictive value. Hence, they may be applied for outcome prediction in patients undergoing PVI.
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Cardiocutaneous syndrome (CCS) is often caused by genetic variants in desmoplakin (DSP) in the presence of thick calluses on the hands and soles of the feet (palmoplantar keratoderma) in combination with arrhythmogenic cardiomyopathy. In this case report, we describe a 58-year-old man presenting with a history of cardiomyopathy with recurrent sustained ventricular tachycardia and palmoplantar keratosis. The cardiological evaluation showed biventricular cardiomyopathy, and repeated genetic testing identified a novel DSP variant. Repeated genetic testingis clinically meaningful in patients with a high probability of a specific inherited cardiac disease, such as CCS, particularly if molecular screening has been performed in the pre-NGS era with an incomplete NGS panel or outdated technology as presented in this case report.
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AIMS: This study aimed at investigating whether tissue Doppler imaging (TDI) is associated with adverse events in arrhythmogenic right ventricular cardiomyopathy (ARVC). METHODS AND RESULTS: Transthoracic echocardiography was performed in 72 patients with definite (n = 63) or borderline (n = 9) ARVC diagnosed according to the 2010 Task Force Criteria and included in the prospective Zurich ARVC registry. Myocardial peak systolic tissue velocity (S') was measured by TDI at lateral tricuspid (tricuspid S'), medial mitral (septal S'), and lateral mitral annulus (lateral S'). Association of echocardiographic parameters with outcome was assessed by univariable Cox regression. During a median follow-up of 4.9 ± 2.6 years, 6 (8.3%) patients died of cardiovascular cause or received heart transplantation and 21 (29.2%) patients developed sustained ventricular arrhythmia. Tricuspid, septal, and lateral S' were lower in patients who died (p = 0.001; p < 0.001; p = 0.008; respectively), while tricuspid and septal S' were lower in those with ventricular arrhythmia (p = 0.001; p = 0.008; respectively). There was a significant association of tricuspid, septal, and lateral S' with mortality (HR = 1.61, p = 0.011; HR = 2.15, p = 0.007; HR = 1.67, p = 0.017; respectively), while tricuspid and septal S' were associated with ventricular arrhythmia (HR = 1.20, p = 0.022; HR = 1.37, p = 0.004; respectively). Kaplan-Meier analyses demonstrated a higher freedom from mortality with tricuspid S' >8 cm/s (p = 0.001) and from ventricular arrhythmia with S' >10.5 cm/s (p = 0.021). CONCLUSIONS: This study demonstrates that TDI provides information on the ARVC phenotype, is associated with adverse events in ARVC patients, and differentiates between patients with and without adverse events.
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Displasia Arritmogênica Ventricular Direita , Displasia Arritmogênica Ventricular Direita/diagnóstico por imagem , Ecocardiografia , Ecocardiografia Doppler/métodos , Humanos , Estudos Prospectivos , SístoleRESUMO
AIMS: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is characterized by progressive fibro-fatty infiltration of the myocardium and associated with adverse cardiovascular (CV) events. This study aims to examine right atrial (RA) deformation in ARVC and understand its association with CV outcomes. METHODS AND RESULTS: RA strain was determined in 50 patients with definite ARVC, compared with a matched control group of 50 healthy individuals, and analysed for outcome association over a median follow-up duration of 5 years. A subgroup of 30 ARVC patients with normal RA volume (ARVC-N group) was compared with 30 matched controls (Control-N), and the outcome was analysed separately. RA reservoir, conduit, and pump strain were significantly impaired in ARVC vs. control. Similar observations were made in the N-ARVC subgroup. Reservoir strain was associated with an increased risk of atrial arrhythmia (AA) [hazard ratio (HR) 0.88, P < 0.01] and CV events (HR 0.92, P < 0.01). Conduit strain also predicted AA (HR 1.02, P < 0.01), while pump strain predicted CV events (HR 1.09, P = 0.02). Reservoir strain improved the fitness of bivariable models for the association of RV end-diastolic area index, RV fractional area change, and RV global longitudinal strain with CV events. CONCLUSION: ARVC patients display impaired RA strain even when RA volume is normal. Reservoir and pump strain are associated with an increased risk of CV events. Reservoir strain improved model fitness for the association of RVGLS and other echocardiographic parameters with CV events.
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Displasia Arritmogênica Ventricular Direita , Apêndice Atrial , Ecocardiografia , Átrios do Coração/diagnóstico por imagem , Humanos , MiocárdioRESUMO
OBJECTIVE: Left ventricular (LV) twist is a major component of ventricular mechanics reflecting the helical orientation of cardiac fibres and compensating for afterload mismatch. However, it is not known whether it determines outcome after transcatheter aortic valve implantation (TAVI). This study sought to investigate TAVI-induced short-term changes of LV twist and to define its role in outcome prediction. METHODS: A total of 146 patients (median age 81.78 years, 50.7% male) undergoing TAVI for severe aortic stenosis were included. LV rotation and twist were determined by speckle tracking echocardiography within 3 months before and 2 weeks after TAVI. All-cause mortality at 2 years was defined as primary end point. RESULTS: Patients who survived exhibited a higher apical peak systolic rotation (APSR) (p<0.001), twist (p=0.003) and torsion (p=0.019) pre-TAVI compared with those who died (n=22). Within 2 weeks after TAVI, APSR, twist and torsion decreased in patients who survived (all p<0.001), while no change occurred in those who died. Cox regression analysis showed an association of pre-TAVI APSR (HR 0.92, p=0.010), twist (HR 0.93, p=0.018) and torsion (HR 0.68, p=0.040) with all-cause mortality and an even stronger association of the respective changes after TAVI (∆APSR: HR 1.15, p<0.001; ∆twist: HR 1.14, p<0.001; ∆torsion: HR 2.53, p<0.001). All the parameters determined outcome independently of global longitudinal strain (GLS) and LV ejection fraction (LVEF). CONCLUSION: APSR, twist and torsion pre-TAVI as well as their change within 2 weeks after TAVI predict 2-year all-cause mortality after TAVI, adding incremental prognostic value to LVEF and GLS.
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Estenose da Valva Aórtica , Substituição da Valva Aórtica Transcateter , Disfunção Ventricular Esquerda , Idoso de 80 Anos ou mais , Estenose da Valva Aórtica/complicações , Estenose da Valva Aórtica/diagnóstico por imagem , Estenose da Valva Aórtica/cirurgia , Feminino , Ventrículos do Coração/diagnóstico por imagem , Humanos , Masculino , Volume Sistólico , Substituição da Valva Aórtica Transcateter/efeitos adversos , Resultado do Tratamento , Disfunção Ventricular Esquerda/diagnóstico por imagem , Disfunção Ventricular Esquerda/etiologia , Função Ventricular EsquerdaAssuntos
Cardiomiopatia Hipertrófica/diagnóstico , Cardiomiopatia Hipertrófica/etiologia , Estudos de Associação Genética , Predisposição Genética para Doença , Variação Genética , Alelos , Miosinas Cardíacas/genética , Miosinas Cardíacas/metabolismo , Consanguinidade , Mutação da Fase de Leitura , Genótipo , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Imuno-Histoquímica , Cadeias Pesadas de Miosina/genética , Cadeias Pesadas de Miosina/metabolismo , Linhagem , TranscriptomaRESUMO
AIMS: This study aims at understanding left ventricular (LV) mechanics of non-compaction (LVNC) phenotype using echocardiographic strain analysis and at assessing the association of functional parameters with cardiovascular (CV) outcomes. METHODS AND RESULTS: Longitudinal (GLS) and circumferential strain (GCS) as well as rotation of the LV were analyzed in 55 LVNC patients and 55 matched controls. Cardiovascular outcomes were documented for a median follow-up duration of 6 years. GLS and GCS were impaired in LVNC. Similary, regional longitudinal and circumferential strain as well as twist were reduced. CV events occurred in 28 LVNC patients. Apical peak circumferential strain (APCS), peak systolic rotation of apical segments (APSR), and twist were strongly associated with events. This was independent of and incremental to LVEF and non-compacted to compacted myocardial thickness ratio (NC:C ratio). The association of twist with events was also independent of and slightly superior to GLS. CONCLUSIONS: GLS, GCS, regional strain, and twist were impaired in LVNC. APCS, APSR, and twist exhibited strong association with CV events independent of and incremental to LVEF and NC:C ratio, and in case of twist even GLS. Thus, STE-derived parameters may complement the echocardiographic assessment of LVNC patients in clinical routine.
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Disfunção Ventricular Esquerda , Função Ventricular Esquerda , Ecocardiografia , Ventrículos do Coração/diagnóstico por imagem , Humanos , Fenótipo , Sístole , Disfunção Ventricular Esquerda/diagnóstico por imagem , Disfunção Ventricular Esquerda/epidemiologiaRESUMO
BACKGROUND: The aim of this aortic stenosis registry was to investigate the changes of routine echocardiographic indices and strain in patients with moderate-to-severe aortic stenosis over a 6-month follow-up period. METHODS: Our aortic stenosis registry is observational, prospective, multicenter registry of nine countries, with 197 patients with aortic valve area less than 1.5 cm2. The enrolment took place from January to August 2017. We excluded patients with uncontrolled atrial arrhythmias, pulmonary hypertension or cardiomyopathies, as well as those with hemodynamically significant valvular disease other than aortic stenosis. We included patients who did not require intervention and who had a complete follow-up study. RESULTS: In patients with preserved ejection fraction, left ventricular mass has significantly increased between baseline and follow-up studies (218 ± 34 grams vs 253 ± 29 grams, p = 0.02). However, when indexed to body surface area, there was no significant difference. Left ventricular global longitudinal strain significantly decreased (-19.7 ± -4.8 vs (-16.4 vs -3.8, p = 0.01). Left atrial volume was significantly higher at follow-up (p = 0.035). Right ventricular basal diameter and mid-cavity diameter were greater at the follow-up (p = 0.04 and p = 0.035, respectively). Patients with low-flow low-gradient aortic stenosis had significantly lower global longitudinal strain (-12.3% ± -3.9% vs -19.7% ± -4.8%, p = 0.01). CONCLUSION: Left atrial dilatation is one of the first changes to take place in low-flow low-gradient aortic stenosis patients even when left ventricular dimensions and function remains intact. Global longitudinal strain is an important determinant of left ventricular systolic and diastolic dysfunction and right ventricular function is an important parameter of aortic stenosis assessment. Accordingly, our registry has further shed the light on these indices role as multisite follow-up of aortic stenosis.
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Estenose da Valva Aórtica , Função Ventricular Esquerda , Estenose da Valva Aórtica/diagnóstico por imagem , Ecocardiografia , Seguimentos , Humanos , Estudos Prospectivos , Sistema de Registros , Índice de Gravidade de Doença , Volume SistólicoRESUMO
Coronary artery disease and severe aortic stenosis (AS) often coexist. This study sought to investigate the impact of normal coronary arteries as negative risk marker in patients undergoing transcatheter aortic valve implantation (TAVI). Consecutive patients with severe AS undergoing TAVI were dichotomized according to the presence or absence of normal coronary arteries, defined as absence of coronary lesions with diameter stenosis ≥30% in vessels ≥1.5 mm in diameter on coronary angiogram in patients without prior coronary revascularization. The primary end point was 1-year mortality. Out of 987 patients with severe AS undergoing TAVI, 258 (26%) patients had normal coronary arteries. These patients were younger, more likely women, and had lower EuroSCORE II and STS risk scores. Although mortality at 30 days was similar in the normal coronary artery and the coronary atherosclerosis groups (3.1% vs 5.6%, pâ¯=â¯0.11), it was lower in those with normal coronary arteries at 1 year (8.9% vs 17%, pâ¯=â¯0.003). In multivariable analysis, the presence of normal coronary arteries on coronary angiogram independently predicted 1-year mortality (adjusted HR 0.57, 95% CI 0.37 to 0.90, pâ¯=â¯0.02). In conclusion, this study defined normal coronary arteries as negative risk marker in patients with severe AS undergoing TAVI.
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Estenose da Valva Aórtica/cirurgia , Doença da Artéria Coronariana/diagnóstico por imagem , Substituição da Valva Aórtica Transcateter , Idoso , Idoso de 80 Anos ou mais , Estenose da Valva Aórtica/complicações , Estudos de Casos e Controles , Angiografia Coronária , Doença da Artéria Coronariana/complicações , Vasos Coronários/diagnóstico por imagem , Feminino , Humanos , Masculino , Mortalidade , Tomografia Computadorizada Multidetectores , Infarto do Miocárdio/epidemiologia , Complicações Pós-Operatórias/epidemiologia , Medição de Risco , Índice de Gravidade de Doença , Acidente Vascular Cerebral/epidemiologia , Resultado do TratamentoRESUMO
The integration of comprehensive genomic and phenotypic data from diverse ethnic populations offers unprecedented opportunities toward advancements in precision medicine and novel diagnostic technologies. Current reference genomic databases are not representative of the global human population, making variant interpretation challenging, especially in underrepresented populations, such as the North African population. To address this, the Egyptian Collaborative Cardiac Genomics (ECCO-GEN) Project launched a study comprising 1000 individuals free of cardiovascular disease (CVD). Here, we present the first 391 Egyptian healthy volunteers recruited to establish a pilot phenotyped control cohort. All individuals underwent detailed clinical investigation, including cardiac magnetic resonance imaging (MRI), and were sequenced using a targeted panel of 174 genes with reported roles in inherited cardiac conditions. We identified 1262 variants in 27 cardiomyopathy genes of which 15.1% were not captured in current global and regional genetic reference databases (here: gnomAD and Great Middle Eastern Variome). The ECCO-GEN project aims at defining the genetic landscape of an understudied population and providing individual-level genetic and phenotypic data to support future studies in CVD and population genetics.
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BACKGROUND: The risk of adverse events in patients with left ventricular non-compaction cardiomyopathy (LVNC) is substantial. Information on prognostic factors, however, is limited. This study was designed to assess the prognostic value of right ventricular (RV) size and function in LVNC patients. METHODS: Cox regression analyses were used to determine the association of indexed RV end-diastolic area (RV-EDAI), indexed end-diastolic diameter (RV-EDDI), fractional area change (FAC), and tricuspid annular systolic excursion (TAPSE) with the occurrence of death or heart transplantation (composite endpoint). RESULTS: Out of 127 patients (53.2⯱â¯17.8 years; 61% males, median follow-up time was 7.7 years), 17 patients reached the endpoint. In a univariate analysis, RV-EDAI was the strongest predictor of outcome [HR 1.48 (1.24-1.77) per cm2/m2; pâ¯<â¯0.0001]. FAC was predictive as well [HR 1.44 (1.16-1.83) per 5% decrease; pâ¯=â¯0.0009], while TAPSE was not (p=ns). RV-EDAI remained an independent predictor in a bivariable analysis with indexed left ventricular ED volume [HR 1.41 (1.18-1.70) per cm2/m2; pâ¯=â¯0.0002], while analysis of FAC and left ventricular ejection fraction demonstrated that FAC was not independent [HR 1.20 (0.98-1.52); per 5% decrease; pâ¯=â¯0.0721]. RV-EDAI 11.5â¯cm2/m2 was the best cut-off value for separating patients in terms of outcome. Patients with RV-EDAI >11.5â¯cm2/m2 had a survival rate of 18.5% over 12 years as compared to 93.8% in patients with RV-EDAI <11.5â¯cm2/m2 (pâ¯<â¯0.0001). CONCLUSION: Increased end-diastolic RV size and decreased systolic RV function are predictors of adverse outcome in patients with LVNC. Patients with RV-EDAI >11.5â¯cm2/m2 exhibit a significantly lower survival than those <11.5â¯cm2/m2.