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BACKGROUND: There is limited data on the 2-year outcomes of transapical transcatheter edge-to-edge repair (TA-TEER) using the ValveClamp in patients with severe primary mitral regurgitation (MR) and its impact on myocardial deformation. METHODS: From July 2018 to March 2021, 53 patients with symptomatic severe primary MR underwent TA-TEER were enrolled. The endpoint was the composite of all-cause mortality, recurrent 3 + or 4 + MR, or need for mitral surgery. RESULTS: Among the 53 patients who had successfully ValveClamp implantation, 8(15.1%) reached the composite endpoint. Significant improvement in left ventricular (LV) end-diastolic volume, pulmonary artery systolic pressure, NYHA functional class, and MR severity were observed (P < 0.05 for all). Univariate Cox's regression analysis revealed that LV end-diastolic volume index, LV end-systolic volume index, left atrial volume index, and pulmonary artery systolic pressure were associated with adverse events (P < 0.05 for all). On multivariate Cox regression analysis, left atrial volume index was independently associated with the endpoint (hazard ratio, 1.049; 95% CI, 1.009-1.091; P < 0.001) after adjustment for above echocardiographic parameters. LV global longitudinal strain and apical longitudinal strain in global and regional segments decreased at 30 days, but showed a recovery at 2 years with no significant difference compared to the baseline. CONCLUSION: TA-TEER using the ValveClamp presented favorable safety and efficacy at 2-year. Myocardial deformation impairment was observed at 30 days post-procedure, but did not persist at 2 years.
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Insuficiência da Valva Mitral , Valva Mitral , Humanos , Insuficiência da Valva Mitral/cirurgia , Insuficiência da Valva Mitral/fisiopatologia , Insuficiência da Valva Mitral/diagnóstico por imagem , Masculino , Feminino , Idoso , Valva Mitral/cirurgia , Valva Mitral/diagnóstico por imagem , Valva Mitral/fisiopatologia , Pessoa de Meia-Idade , Implante de Prótese de Valva Cardíaca/métodos , Resultado do Tratamento , Ecocardiografia , Estudos Retrospectivos , Cateterismo Cardíaco/métodosRESUMO
The prohibitive risk of isolated tricuspid valve (TV) surgery encouraged rapid development of a transcatheter solution for tricuspid regurgitation (TR). The favorable results of these devices informed recent guidelines to recommend considering transcatheter treatment of symptomatic secondary severe TR in inoperable patients. Transcatheter TV repair systems usually reduce TR through leaflet approximation and direct annuloplasty. Orthotopic transcatheter TV replacement (TTVR) devices generally rely on radial force and tricuspid leaflet engagement for implantation and stability. The LuX-Valve is a novel radial force-independent orthotopic TTVR device that is operated through the trans-atrial approach. Its radial force-independency is achieved through an interventricular septal anchor tab (septal insertion) and two leaflet graspers (leaflet engagement). Such a unique design makes the intraprocedural imaging different from that of other currently available TTVR systems. The latest generation of this device, the LuX-Valve Plus, comes with a newly designed delivery system through the transjugular approach, which makes the intraprocedural monitoring and adjustment of the device even more complex for successful implantation. However, its unique imaging needs for intra-procedural guidance and post-operative evaluation have not been described before. Therefore, we aimed to elaborate the key steps of transesophageal echocardiography (TEE) to guide this novel procedure. Herein, the primary 2-dimensional (2D) and 3-dimensional (3D) echocardiographic work planes are proposed and the critical steps are emphasized for better communication between imagers and interventionists. The suitability of 2D and 3D echocardiography to guide this procedure is also discussed to increase the flexibility of choice during the implantation.
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Background: The 2-dimensional proximal isovelocity surface area (2D PISA) method underestimates tricuspid regurgitation (TR) severity. Previously proposed correction algorithms should be further scrutinized. Methods: Two correction algorithms were tested. One approach involves dividing the 2D PISA effective regurgitant orifice area by a constant of 0.7 (EROA0.7). Another approach involves multiplying the unadjusted EROA by Vorifice/(Vorifice - Valiasing), where Vorifice denotes the TR jet velocity, and Valiasing represents the color aliasing velocity (EROAVo-Va). In vitro validation was performed on a commercially available multifunctional valve tester with different size orifices and peak pressure gradients. A true EROA was derived through the regurgitant volume (RVol) calculated from the tester. For clinical validation, RVol was calculated as the difference between the overall stroke volume and the forward stroke volume of the right ventricle. Volumetric EROA was derived by dividing the RVol by the TR velocity-time integral (VTI). The vena contracta area (VCA) was obtained through direct planimetry with 3D echocardiography. The mean of volumetric EROA and VCA served as the reference in clinical validation. Results: Excellent correlation between the calculated EROAs and the true EROA was observed in vitro (r=0.98, r=0.97, and r=0.98 for uncorrected EROA, EROAVo-Va, and EROA0.7, respectively; all P values <0.0001). EROAVo-Va underestimated the true EROA and averaged 33% (P=0.3163), while EROA0.7 overestimated the true EROA and averaged 8% (P=0.0032). Clinically, these methods consistently exhibited a notable underestimation that varied with the reference EROA. This systematic underestimation was mitigated by both algorithms when either the VCA (biases of 19.6, 15.1, and 11.8 mm2 for uncorrected EROA, EROAVo-Va, and EROA0.7, respectively) or the volumetric EROA (biases of 10.1, 5.6, and 2.3 mm2 for uncorrected EROA, EROAVo-Va, and EROA0.7, respectively) served as the reference. Their ability to distinguish severe TR was similar, with area under the curve values of 0.905, 0.903, and 0.893 for uncorrected EROA, EROAVo-Va, and EROA0.7, respectively. No statistically significant differences were observed for diagnostic accuracy (all P values >0.05). Conclusions: Using a correction factor of 0.7 in quantifying TR provides similar accuracy when compared to other techniques. This represents a valuable clinical tool for quickly correcting the underestimation of the 2D PISA method in TR. This simple method may increase the frequency of applying the correction and earlier recognition of patients with severe TR.
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Background: Cardiac infiltration is the major predictor of poor prognosis in patients with systemic amyloidosis, thus it becomes of great importance to evaluate cardiac involvement. Purpose: We aimed to evaluate left ventricular myocardial deformation alteration in patients with cardiac amyloidosis (CA) using layer-specific tissue tracking MR. Material and Methods: Thirty-nine patients with CA were enrolled. Thirty-nine normal controls were also recruited. Layer-specific tissue tracking analysis was done based on cine MR images. Results: Compared with the control group, a significant reduction in LV whole layer strain values (GLS, GCS, and GRS) and layer-specific strain values was found in patients with CA (all P < 0.01). In addition, GRS and GLS, as well as subendocardial and subepicardial GLS, GRS, and GCS, were all diminished in patients with CA and reduced LVEF, when compared to those with preserved or mid-range LVEF (all P < 0.05). GCS showed the largest AUC (0.9952, P = 0.0001) with a sensitivity of 93.1% and specificity of 90% to predict reduced LVEF (<40%). Moreover, GCS was the only independent predictor of LV systolic dysfunction (Odds Ratio: 3.30, 95% CI:1.341-8.12, and P = 0.009). Conclusion: Layer-specific tissue tracking MR could be a useful method to assess left ventricular myocardial deformation in patients with CA.
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Background: Current guidelines recommend integrating several echocardiographic indices to evaluate the severity of tricuspid regurgitation (TR). Discordance of indices, including qualitative and quantitative methods, commonly exists in practice. The discordance among these parameters has not yet been fully elucidated. Methods: A total of 127 patients with recognizable TR jets without pulmonary regurgitation or intracardiac shunt were prospectively enrolled. We evaluated 8 parameters by 2-dimensional (2D) echocardiography: proximal iso-velocity surface area (PISA)-derived regurgitant volume (RVol), PISA-derived effective regurgitant orifice area (EROA), PISA radius, vena contracta width (VCW), color Doppler jet area, tricuspid valve annular diameter, inferior vena cava (IVC) diameter, and peak E wave. According to current guidelines, each echocardiographic parameter was determined to represent either severe or non-severe TR. A concordance score was calculated as the number of concordant parameters divided by 8, with a higher score reflecting better concordance. Data were further categorized into 3 subgroups: complete concordance (0 discordant parameters), high concordance (1-2 discordant parameters), and low concordance (3-4 discordant parameters). Results: The mean concordance score was 81%±17% for the entire cohort. There were 48 (38%) patients with complete concordance, including 6 patients with severe TR. In contrast, the low concordance group (n=43, 34%) mostly comprised severe TR patients (36 patients). When considering only EROA, RVol, and VCW, concordance improved, with 98 patients (77%) in complete agreement. Conclusions: Concordance seems limited when using echocardiographic parameters to assess TR severity. Applying only EROA, RVol, and VCW results in better concordance, as recommended by the current guidelines.
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BACKGROUND: The purpose of the study was to determine the association between vena contracta area (VCA) and secondary leaflet tethering among mitral valve prolapse (MVP) patients, and thus to further identify and characterize an MVP with pathological leaflet tethering (MVPt+) phenotype. METHODS: We prospectively evaluated 94 consecutive MVP patients with significant mitral regurgitation (MR) and 21 healthy controls. MVPt+ group was defined as tenting volume index (TVi) > .7 mL/m2 . The three-dimensional (3D) geometry of mitral valve apparatus and VCA was measured with dedicated quantification software. RESULTS: Of the 94 patients with MVP and significant MR, 31 patients showed a TVi > .7 mL/m2 and entered the MVP with leaflet tethering (MVPt+) group. In stepwise multivariate analysis, only prolapse volume index and TVi were independently associated with 3D VCA. 3D VCA, annular area index, and plasma levels of NT-proBNP were independently correlated with the severity of leaflet tethering. ROC curve revealed that a 3D VCA ≥ .55 cm2 is the optimal cutoff point to predict MVPt+ phenotype. CONCLUSIONS: Secondary leaflet tethering is a significant mechanism behind severe degenerative MR, resulting in an MVPt+ phenotype featuring more advanced morphological and hemodynamical characteristics.
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Ecocardiografia Tridimensional , Insuficiência da Valva Mitral , Prolapso da Valva Mitral , Humanos , Insuficiência da Valva Mitral/complicações , Insuficiência da Valva Mitral/diagnóstico por imagem , Ecocardiografia Transesofagiana/métodos , Ecocardiografia Tridimensional/métodos , Prolapso da Valva Mitral/complicações , Valva Mitral/diagnóstico por imagemRESUMO
PURPOSE: The ValveClamp system is a novel edge-to-edge mitral valve repair system designed for the ease of operation. We report the outcomes of our initial experience of treating functional mitral regurgitation (MR) with the ValveClamp system. METHODS: The subjects of this study were patients with symptomatic functional MR despite standard medical therapy, who were treated with transapical ValveClamp implantation. The patients were divided into an atrial functional mitral regurgitation (AFMR) group and a ventricular functional mitral regurgitation (VFMR) group. Clinical and echocardiographic outcomes were evaluated at baseline and then at the 3-month follow up. RESULTS: Twelve patients, with a median age of 71 years (range 65-78 years), were assigned to the AFMR group (n = 5) or the VFMR group (n = 7). The device implantation rate was 100%, and 10 (83.3%) patients required implantation of only one clamp. The catheter time was less than 10 min in half of the patients, the fastest time being 5 min. There were no procedure-related complications. At the 3-month follow up, all patients were free from all-cause mortality, surgery, and rehospitalization. MR improved to ≤ 2 + in all 12 patients with MR grade 3 + or 4 + at baseline, (100%) and to ≤ 1 + in 9 of these patients (75%), with a low-pressure gradient. The left atrial diameter and the left ventricular end diastolic diameter decreased significantly in both the AFMR and VFMR groups. The left ventricular eject fraction at the 3-month follow up showed a rising trend in both the AFMR and VFMR groups, whereas PASP decreased remarkably. All 12 patients with baseline NYHA functional class III/IV (100%) showed improvement of at least 1 class, and 2 of these patients (16.7%) showed improvement of at least 2 classes. CONCLUSIONS: The ValveClamp system is simple and effective for transapical transcatheter edge to edge repair in patients with functional MR.
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Fibrilação Atrial , Implante de Prótese de Valva Cardíaca , Insuficiência da Valva Mitral , Humanos , Idoso , Insuficiência da Valva Mitral/diagnóstico por imagem , Insuficiência da Valva Mitral/cirurgia , Insuficiência da Valva Mitral/etiologia , Valva Mitral/diagnóstico por imagem , Valva Mitral/cirurgia , Fibrilação Atrial/cirurgia , Resultado do Tratamento , Catéteres/efeitos adversosRESUMO
Gradually, more attention has been paid to tricuspid regurgitation. Formerly the "forgotten valvular heart disease," it has been recognized as having high incidence and adverse prognosis if untreated. However, isolated tricuspid valve surgery carries substantial risk and is thus not recommended. The K-Clip transcatheter tricuspid annuloplasty system has recently emerged as a minimally invasive therapeutic option that may help address these unmet clinical needs. The K-Clip technology simulates the Kay's procedure, which reduces the dimensions of the tricuspid annulus by folding and clamping the tricuspid annulus issue with a rigid clamping device. The feasibility of the K-Clip technology was investigated in this study, and annulus area reduction and declining tricuspid regurgitation grades were noted following the procedure. The findings of this study suggest that the K-Clip system may potentially be applicable as a novel transcatheter tricuspid annuloplasty device for the treatment of severe tricuspid in humans.
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The ValveClamp system is a novel edge-to-edge mitral valve repair system that is designed for ease of operation. We aimed to report the 1-year outcomes of the early feasibility study of this system.Patients with severe degenerative mitral regurgitation (MR) at higher surgical risk and who received transapical ValveClamp implantation were followed for 1 year for clinical and echocardiographic outcomes.Twelve patients (mean age, 76.5 ± 6.3 years; mean Society of Thoracic Surgery score, 6.9 ± 1.9%) were enrolled at three sites in China. At 1 year, no patient died, received reoperation, or had long-term complications. Of the 12 patients with MR of 3+ or 4+ at baseline, 11 patients (91.67%) remained with MR ≤ 2+ at 1 year, and no patient had mitral stenosis. Significant reductions in maximum MR area (from 15.1 ± 6.51 cm2 to 4.45 ± 1.85 cm2, P < 0.001), effective orifice area (from 4.34 ± 0.34 cm2 to 2.38 ± 0.45 cm2, P < 0.001), and vena contracta width (from 8.03 ± 1.11 to 3.38 ± 2.11 mm, P < 0.001) were observed. The left cardiac dimensions were decreased, especially the mitral valve annulus diameter (from 34.79 ± 4.27 mm to 31.42 ± 2.81 mm, P < 0.05). Of the 12 patients with baseline New York Heart Association functional class III/IV, all patients experienced an improvement of at least one class (P < 0.05).Our study provides evidence that transapical ValveClamp implantation in high-risk patients with severe degenerative MR is safe and feasible, with good efficacy in the mid-long term.
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Implante de Prótese de Valva Cardíaca/instrumentação , Insuficiência da Valva Mitral/cirurgia , Idoso , Idoso de 80 Anos ou mais , Cateterismo Cardíaco , Ecocardiografia , Estudos de Viabilidade , Feminino , Próteses Valvulares Cardíacas , Humanos , Masculino , Pessoa de Meia-Idade , Insuficiência da Valva Mitral/diagnóstico por imagem , Insuficiência da Valva Mitral/fisiopatologia , Estudos Prospectivos , Fatores de Tempo , Resultado do TratamentoAssuntos
Implante de Prótese de Valva Cardíaca , Insuficiência da Valva Mitral , Cateterismo Cardíaco , Ecocardiografia , Humanos , Valva Mitral/diagnóstico por imagem , Valva Mitral/cirurgia , Insuficiência da Valva Mitral/diagnóstico por imagem , Insuficiência da Valva Mitral/cirurgia , Resultado do TratamentoRESUMO
Background: Grade 2+ residual mitral regurgitation (MR 2+) is associated with the recurrence of MR and a lower survival rate in interventional mitral valve (MV) edge-to-edge (EE) repair. We sought to determine the MV anatomic factors affecting residual MR 2+ during interventional EE repair with the ValveClamp system in patients with degenerative MR (DMR). Methods: In this multicenter study, 62 patients with significant (grade 3+ to 4+) DMR underwent ValveClamp implantation across eight centers from July 2018 to December 2019. Patient clinical, anatomical, and procedural characteristics were prospectively collected and retrospectively analyzed. Results: A single clamp was implanted in 59 patients, and two clamps were implanted in three patients. Residual MR 2+ was found in 14 patients (22.6%) immediately after the ValveClamp procedure. Patients with residual MR 2+ showed significantly larger preoperative tenting sizes and annular dimensions than the residual MR ≤1+ group. Multivariate analysis identified tenting volume as the major determinant of residual MR 2+ after ValveClamp procedures (odds ratio, 1.410 per 0.1-mL/m2 increase; 95% confidence interval, 1.167-1.705; P < 0.001). Receiver operating characteristic curves identified a tenting volume index ≥0.82 mL/m2 as the optimal cutoff point to predict residual MR 2+ (area under curve, 0.84). Patients with a tenting volume index ≥0.82 mL/m2 were more likely to develop recurrent 3+ MR or undergo MV surgery during short-term follow-up (P < 0.001). Conclusions: Preoperative assessment of the tenting volume index will help to predict intraoperative residual MR 2+ in patients with DMR receiving EE-based interventional repair. Improvements in the interventional strategy are warranted for sustained MR reduction in patients with DMR with unfavorable anatomy.
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MitraClip edge-to-edge (E2E) repair system is the only transcatheter device recommended in the current guidelines for treating mitral regurgitation (MR). The percutaneous femoral venous transseptal access of MitraClip requires a complex steerable delivery system and may thus be technically complex to optimally position and deploy the clip onto the mitral valve. A transapical approach for E2E repair has been devised to treat MR for the ease of operation (ValveClamp system, Hanyu Medical Technology, Shanghai). The first-in-human study of ValveClamp has demonstrated its early feasibility and effectiveness for the treatment of patients with degenerative MR. Transesophageal echocardiography (TEE) is the only imaging modality required for intraoperative guidance of ValveClamp implantation. Successful implantation depends on accurate localization and orientation of the clamp and efficient intraoperative communication between the echocardiographer and the intervention team. Thus, the focus of this review is on elaborating how two-dimensional (2D) and three-dimensional (3D) TEE are used in clinical practice to guide ValveClamp implantation and it may facilitate the understanding of simplicity and safety of this novel procedure. We also describe the implementation of several novel advancements in 3D TEE imaging, which improve the confidence of image interpretation for intraoperative guidance and expedite implantation times.
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Ecocardiografia Transesofagiana/métodos , Insuficiência da Valva Mitral/cirurgia , Cirurgia Assistida por Computador/métodos , Ecocardiografia Tridimensional/métodos , Implante de Prótese de Valva Cardíaca/instrumentação , Implante de Prótese de Valva Cardíaca/métodos , Humanos , Valva Mitral/cirurgia , Insuficiência da Valva Mitral/diagnósticoRESUMO
BACKGROUND: Previous studies found different cutoffs of vena contracta area (VCA) to define severe tricuspid regurgitation (TR). The aim of this study was to investigate the factors associated with such variability by comparing technical variables and vendors. METHODS: Sixty-nine patients with scheduled tricuspid surgery were included in this prospective study. For each patient, TR data sets were obtained on three-dimensional color Doppler transthoracic echocardiography on at least two of three systems: GE Vivid E95 (n = 39), Siemens SC2000 Prime (n = 64), and Philips EPIQ 7C (n = 60). VCA was measured using default settings or with color baseline shifted on all three platforms and with minimal color gain (10%-20%) on the GE platform. RESULTS: Color gain reduction and baseline shift caused significant change sin VCA measurement (-46% and 10%, respectively). Intervendor comparison exhibited wide limits of agreement (narrowest range, -74% to 167%), with either default or optimized settings. Different technical settings, platforms, and reference methods all produced different VCA cutoffs for severe TR. CONCLUSIONS: VCA measurement in TR is sensitive to technical factors and demonstrates intervendor variability. Technical variables in VCA measurement should be reported in detail to allow comparison among research studies. The same vendor and settings should be used for longitudinal analysis of TR VCA in the same patient in multivendor echocardiography laboratories.
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Ecocardiografia Tridimensional , Insuficiência da Valva Tricúspide , Ecocardiografia Doppler em Cores , Humanos , Laboratórios , Estudos Prospectivos , Índice de Gravidade de Doença , Insuficiência da Valva Tricúspide/diagnóstico por imagemRESUMO
BACKGROUND: To evaluate the detailed dynamic change of left ventricular diastolic function (LVDF) by echocardiography in aortic stenosis (AS) patients receiving transcatheter aortic valve implantation (TAVI) and compare LVDF classification according to 2009 ASE/EAE and 2016 ASE/EACVI recommendations. METHODS: Thirty-five AS patients receiving TAVI underwent echocardiography the day before operation (PRE), on the third day (3D), in the first-month (1 M) and the six-month (6 M) after TAVI. LVDF was analyzed using 2D and doppler imaging to get parameters including E/A, E/e', isovolumic relaxation time (IVRT), deceleration time, LA area, LA volume index (LAVI) and systolic tricuspid regurgitation velocity (TR). LVDF classification was evaluated four times for each patient according to 2009 and 2016 recommendations respectively and the results were compared. RESULTS: The decrease of IVRT and TR occurred immediately post surgery up to 1-month. Improvement of E/e' occurred late from 3-day to 1-month. LA area and LAVI decreased continuously shortly after operation till 6-month. Forty-four percent (62/140) by 2009 recommendations were reclassified with different grades when using 2016 guidelines. Comparing PRE and 6 M, with 2009 guidelines, 19 patients improved 1 grade, 8 patients improved 2 grades; with 2016 guidelines, 9 patients improved 1 grade, 13 patients improved 2 grades, 1 patient improved 3 grades. CONCLUSIONS: The conventional 2D echocardiography could effectively reflect variation process of LVDF in AS patients after TAVI. For LVDD classification, obvious differences resulted by the 2009 and updated recommendations were found, and more patients can be regarded as benefiting from TAVI by 2016.
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Estenose da Valva Aórtica/cirurgia , Valva Aórtica/cirurgia , Ecocardiografia/normas , Guias como Assunto , Substituição da Valva Aórtica Transcateter/métodos , Função Ventricular Esquerda/fisiologia , Idoso , Idoso de 80 Anos ou mais , Valva Aórtica/diagnóstico por imagem , Estenose da Valva Aórtica/diagnóstico , Estenose da Valva Aórtica/fisiopatologia , Diástole , Feminino , Humanos , Masculino , Estudos RetrospectivosRESUMO
BACKGROUND: Danon disease is an X-linked dominant hereditary condition caused by mutations in the gene encoding lysosomal-associated membrane protein 2 (LAMP2), leading to failure of lysosome binding to autophagosomes, accumulation of glycogen in the heart, and abnormal cardiac function. METHODS: We describe identification of a mutation in LAMP2, c.741+1G>T, in a family with Danon disease by whole exome sequencing. RESULTS: Pathology examination of patient skeletal muscle biopsy showed myogenic damage and autophagic vacuoles with sarcolemmal features (AVSF). Numerous autophagic vacuoles accumulated in muscle cells were detected by electron microscopy, indicating abnormal autophagy function. CONCLUSION: The mutation did not result in loss of mRNA exons; rather, a 6-nucleotide (two-codon) insertion, where the latter was a stop codon, leading to early termination of LAMP2 protein translation. The resulting truncated protein lacks an important transmembrane domain, which will impair lysosome/autophagosome fusion, damage autophagy function, and result in the clinical manifestations of Danon disease.
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Doença de Depósito de Glicogênio Tipo IIb/genética , Proteína 2 de Membrana Associada ao Lisossomo/genética , Mutação , Adolescente , Autofagia , Feminino , Doença de Depósito de Glicogênio Tipo IIb/patologia , Humanos , Proteína 2 de Membrana Associada ao Lisossomo/química , Proteína 2 de Membrana Associada ao Lisossomo/metabolismo , Masculino , Músculo Esquelético/metabolismo , Músculo Esquelético/ultraestrutura , Linhagem , Splicing de RNARESUMO
OBJECTIVE: The aim of the present study was to determine whether pathogenic mutations were present in families with mitochondrial cardiomyopathy that presented during adolescence. METHODS: The proband was a 21-year-old man who presented clinically with palpitations, chest tightness, pulmonary hypertension, and limited exercise tolerance. Cardiac magnetic resonance imaging studies showed biventricular cardiac hypertrophy. We determine whether pathogenic mutations were present by whole-exome sequencing (WES) in families. RESULTS: Screening of the family using tandem mass spectrometry showed elevated lactic acid levels, glutaric aciduria, a mildly increased glutarylcarnitine-to-octanoylcarnitine ratio, and normal blood α-glucosidase, which was consistent with a respiratory chain complex 1 metabolic disorder. We identified a novel mutation of MT-ND5, c.1315A>G (p.Thr439Ala). Skeletal muscle biopsy histology showed predominantly ragged red fibers and few ragged blue fibers, which was consistent with mitochondrial myopathy. CONCLUSION: In the present study, we identified a novel mutation of MT-ND5, c.1315A>G (p.Thr439Ala), in a family pedigree using WES.
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Cardiomiopatias/genética , Complexo I de Transporte de Elétrons/genética , Proteínas Mitocondriais/genética , Adulto , Povo Asiático/genética , Cardiomegalia/complicações , Cardiomiopatias/complicações , Cardiomiopatias/diagnóstico , Cardiomiopatias/diagnóstico por imagem , Diagnóstico Diferencial , Ecocardiografia , Eletrocardiografia , Tolerância ao Exercício , Feminino , Humanos , Hipertensão Pulmonar/complicações , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Mutação , Linhagem , Sequenciamento do Exoma , Adulto JovemRESUMO
BACKGROUND AND AIM OF THE STUDY: The functions of the left ventricle and left atrium are closely associated with the outcomes of surgically treated patients with severe mitral regurgitation (MR). However, both parameters were overestimated in the presence of MR. The present study integrated the left atrium and left ventricle as the left heart (LH) to eliminate the influence of MR within the integrated structure. The study aim was to explore whether the emptying fraction of the LH is a load-independent parameter for patients with MR. METHODS: A total of 52 patients with isolated organic MR was enrolled as a patient group, and 48 age- and gender-matched healthy subjects as a control group. The left atrial emptying fraction (LAEF) and left ventricular ejection fraction (LVEF) were evaluated using apical four-chamber views. The global volume of the LH was calculated as the sum of left atrial (LA) and left ventricular (LV) volumes. The LH emptying fraction (LHEF) was assessed according to the volume-time curve of the LH. All patients underwent echocardiography one day before and within one week after surgery. RESULTS: The LA, LV and LH volumes were each increased in the patient group (p <0.05). The LVEF of the patient group was comparable to that of controls before surgery (p >0.05), and fell by 10% after surgery (p <0.05). The LAEF of the patient group fell before surgery and also suffered a 10% fall after surgery. Both, baseline and postoperative LHEF were decreased in the patient group (both p <0.05) and remained unchanged after the correction of MR (p >0.05). CONCLUSIONS: By integrating the left atrium and left ventricle as a whole, the LHEF avoided the influence of MR and proved to be a load-independent parameter for global left heart function in patients with MR.
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Função do Átrio Esquerdo , Insuficiência da Valva Mitral/fisiopatologia , Valva Mitral/fisiopatologia , Volume Sistólico , Função Ventricular Esquerda , Adulto , Idoso , Estudos de Casos e Controles , Ecocardiografia Doppler , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Valva Mitral/diagnóstico por imagem , Valva Mitral/cirurgia , Insuficiência da Valva Mitral/diagnóstico por imagem , Insuficiência da Valva Mitral/cirurgia , Valor Preditivo dos Testes , Estudos Prospectivos , Fatores de Tempo , Resultado do TratamentoRESUMO
The aim of this study was to investigate subclinical LV changes in patients with maintenance hemodialysis (MHD) using three-dimensional speckle-tracking echocardiography (3DSTE) and to explore its prognostic value. A total of 88 individuals were consecutively enrolled, including 66 subjects with MHD and 22 age- and sex-matched controls. Conventional and Real-time three-dimensional echocardiography was performed and analyzed. Left ventricular volume, strain and time parameters were calculated and compared. The MHD cohort was then followed to record cardiovascular events (CVE). Univariate and multivariate logistic regression analysis was used to identify independent predictors of CVE. Compared with the controls, MHD patients had significantly lower global longitudinal and radial strain (GLS and GRS), and LVEF (GLS: -17.0 ± 2.3 vs -18.8 ± 2.3 %; GRS: 37.0 ± 3.5 vs 39.4 ± 3.4 %; LVEF: 57.3 ± 4.2 vs 59.5 ± 3.5 %, p < 0.05 for all), as well as enlarged LV volume (EDV: 51.3 ± 14.2 vs 40.4 ± 7.3 ml/m(2); ESV: 22.0 ± 6.9 vs 16.3 ± 3.2 ml/m(2); SV: 29.2 ± 8.0 vs 24.0 ± 4.7 ml/m(2), p < 0.01 for all) and LV mass index (LVMi) (107.7 ± 28.6 vs 83.7 ± 20.6 g/m(2)). Time to minimum end-systolic volume and to peak longitudinal strain (T-msv and T-ls) were delayed in the MHD group (T-msv: 38.1 ± 5.2 vs 41.4 ± 6.4 %; T-ls: 38.1 ± 4.6 vs 42.1 ± 6.8 %, p < 0.05). Systolic dyssynchrony index (SDI) of the MHD group was significant larger than that of the controls (6.4 ± 1.5 vs 4.9 ± 1.8 %, p < 0.01). CVE occurred in 23 patients within a follow-up of 2 years. GLS and LVMi remained significant predictors of CVE [OR = 3.94, 95 % CI (1.33-11.66) for GLS and OR = 1.04, 95 % CI (1.01-1.07) for LVMi, p = 0.013 and 0.009, respectively]. Subclinical LV deformation and dysfunction exist in MHD patients with preserved LVEF. GLS and LVMi are two important predictors of CVE in MHD patients. Strain assessment in MHD patients may contribute to better vascular risk stratification.
Assuntos
Ecocardiografia Tridimensional , Nefropatias/terapia , Contração Miocárdica , Diálise Renal , Disfunção Ventricular Esquerda/diagnóstico por imagem , Função Ventricular Esquerda , Adulto , Idoso , Doenças Assintomáticas , Estudos de Casos e Controles , Feminino , Humanos , Nefropatias/complicações , Nefropatias/diagnóstico , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Análise Multivariada , Variações Dependentes do Observador , Razão de Chances , Valor Preditivo dos Testes , Estudos Prospectivos , Diálise Renal/efeitos adversos , Reprodutibilidade dos Testes , Medição de Risco , Fatores de Risco , Estresse Mecânico , Volume Sistólico , Fatores de Tempo , Resultado do Tratamento , Disfunção Ventricular Esquerda/etiologia , Disfunção Ventricular Esquerda/fisiopatologiaRESUMO
AIMS: To investigate whether alterations of myocardial strain and high-sensitive cardiac troponin T (cTnT) could predict future cardiac dysfunction in patients after epirubicin exposure. METHODS: Seventy-five patients with non-Hodgkin lymphoma treated with epirubicin were studied. Blood collection and echocardiography were performed at baseline, 1 day after the third cycle, and 1 day after completion of chemotherapy. Patients were studied using echocardiography during follow-up. Global longitudinal (GLS), circumferential (GCS), and radial strain (GRS) were calculated using speckle tracking echocardiography. Left ventricular ejection fraction was analysed by real-time 3D echocardiography. Cardiotoxicity was defined as a reduction of the LVEF of ≥5% to <55% with symptoms of heart failure or an asymptomatic reduction of the LVEF of ≥10% to <55%. RESULTS: Fourteen patients (18.67%) developed cardiotoxicity after treatment. GLS (-18.48 ± 1.72% vs. -15.96 ± 1.6%), GCS (-20.93 ± 2.86% vs. -19.20 ± 3.21%), and GRS (39.23 ± 6.44% vs. 34.98 ± 6.2%) were markedly reduced and cTnT was elevated from 0.0010 ± 0.0020 to 0.0073 ± 0.0038 ng/mL (P all < 0.01) at the completion of chemotherapy compared with baseline values. A >15.9% decrease in GLS [sensitivity, 86%; specificity, 75%; area under the curve (AUC) = 0.815; P = 0.001] and a >0.004 ng/mL elevation in cTnT (sensitivity, 79%; specificity, 64%; AUC = 0.757; P = 0.005) from baseline to the third cycle of chemotherapy predicted later cardiotoxicity. The decrease in GLS remained the only independent predictor of cardiotoxicity (P = 0.000). CONCLUSIONS: GLS combined with cTnT may provide a reliable and non-invasive method to predict cardiac dysfunction in patients receiving anthracycline-based chemotherapy.