RESUMO
BACKGROUND AND AIMS: Atrioventricular block (AVB) is a degenerative disease and more commonly encountered in elderly patients, but unusual and often of unknown etiology in young patients. This study aimed to investigate the potential contributions of genetic variations to AVB of unknown reasons in young patients. METHODS: We enrolled 41 patients aged <55 years with high-degree AVB of unknown etiology whose clinical and genetic data were collected. RESULTS: Genetic variants were identified in 20 (20/41, 48.8%) patients, 11 (11/20, 55%) of whom had LMNA variants including 3 pathogenic (c.961C > T, c.936+1G > T and c.646C > T), 4 likely pathogenic (c.1489-1G > C, c.265C > A, c.1609-2A > G and c.1129C > T) and 3 of uncertain significance (c.1158-3C > G, c.776A > G and c.674G > T). Compared to those without LMNA variants, patients with LMNA variants demonstrated a later age at onset of AVB (41.45 ± 9.89 years vs 32.93 ± 12.07 years, P = .043), had more prevalent family history of cardiac events (81.8% vs 16.7%, P < .000), suffered more frequently atrial (81.8% vs 10.0%, P < .000) and ventricular (72.7% vs 10.0%, P < .000) arrhythmias, and were more significantly associated with enlargement of left atrium (39.91 ± 7.83 mm vs 34.30 ± 7.54 mm, P = .043) and left ventricle (53.27 ± 8.53 mm vs 47.77 ± 6.66 mm, P = .036). CONCLUSIONS: Our findings provide insights into the genetic etiology of AVB in young patients. LMNA variants are predominant in genotype positive patients and relevant to distinctive phenotypic properties.
Assuntos
Bloqueio Atrioventricular , Idoso , Humanos , Bloqueio Atrioventricular/etiologia , Bloqueio Atrioventricular/genética , Prevalência , Arritmias Cardíacas , Lamina Tipo A/genéticaRESUMO
Chlorophenols are widespread environmental organic pollutants with harmful effects on human beings. Although relationships between chlorophenols and various dysfunctions/diseases have been reported, the contribution of chlorophenols exposure to mortalities is underdetermined. In this cohort study, we included 4 types of urinary chlorophenols, aiming to estimate associations of chlorophenols exposure with all-cause and cause-specific mortalities. Urinary chlorophenols were examined at baseline of National Health and Nutrition Examination Survey (NHANES) 2003-2010, and adjusted for the urinary creatinine level. Associations between chlorophenols and mortalities were estimated using COX regression analyses, results were shown as hazard ratio (HR) and 95% confidence interval (95% CI). By dividing participants into four subgroups based on quartiles of urinary levels of chlorophenols, associations between mortalities and categorical variables of chlorophenols were estimated. Furthermore, the quantile g-computation analysis was used to estimate the joint effects of 4 chlorophenols on mortalities. Among 5817 adults (2863 men), 1034 were deceased during the follow-up. After adjusted for confounders, 2,4,5-trichlorophenol (2,4,5-TCP) was found to be positively associated with both all-cause (HR = 1.46; 95% CI: 1.16, 1.84) and cardiovascular disease (CVD) mortalities (HR = 1.60; 95% CI: 1.00, 2.55). Compared to the subgroup of the lowest level of chlorophenols, participants in subgroups of higher 2,4,5-TCP levels showed higher risk of all-cause mortality (P-value for trend = 0.003). For CVD mortality, HRs in subgroups of higher levels of 2,4-dichlorophenol (2,4-DCP) and 2,4,6-trichlorophenol (2,4,6-TCP) were statistically significant (P-values for trend were 0.017 for 2,4-DCP and 0.049 for 2,4,6-TCP). The HRs (95% CI) of joint effects of 4 chlorophenols were 1.11 (1.01, 1.21) and 1.32 (1.10, 1.57) for all-cause and CVD-specific mortalities, and 2,4,5-TCP showed the highest weight in joint effects. All of these findings implied that among 4 urinary chlorophenols we included, 2,4,5-TCP might be a sensitive one in associations with mortalities among general populations.
Assuntos
Doenças Cardiovasculares , Clorofenóis , Poluentes Ambientais , Adulto , Masculino , Humanos , Estados Unidos , Inquéritos Nutricionais , Estudos de Coortes , Doenças Cardiovasculares/urinaRESUMO
AIMS: The aim of this study was to investigate the electrophysiological characteristics and long-term outcome of patients undergoing substrate-based ablation of left posterior fascicular ventricular tachycardia (LPF-VT) guided by targeting of fragmented antegrade Purkinje potentials (FAPs) during sinus rhythm. METHODS AND RESULTS: This study retrospectively analysed 50 consecutive patients referred for ablation. Substrate mapping during sinus rhythm was performed to identify the FAP that was targeted by ablation. FAPs were recorded in 48 of 50 (96%) patients during sinus rhythm. The distribution of FAPs was located at the proximal segment of posterior septal left ventricle (LV) in two (4.2%) patients, middle segment in 33 (68.8%) patients, and distal segment in 13 (27.1%) patients. In 32 of 48 (66.7%) patients, the FAP displayed a continuous multicomponent fragmented electrogram, while a fragmented, split, and uncoupled electrogram was recorded in 16 (33.3%) patients. Entrainment attempts at FAP region were performed successfully in seven patients, demonstrating concealed fusion and the critical isthmus of LPF-VT. Catheter ablation targeting at the FAPs successfully terminated the LPF-VT in all 48 patients in whom they were seen. Left posterior fascicular (LPF) block occurred in four (8%) patients after ablation. During a median follow-up period of 61.2 ± 16.8 months, 47 of 50 (94%) patients remained free from recurrent LPF-VT. CONCLUSION: Ablation of LPF-VT targeting FAP during sinus rhythm results in excellent long-term clinical outcome. FAPs were commonly located at the middle segment of posterior septal LV. Region with FAPs during sinus rhythm was predictive of critical site for re-entry.
Assuntos
Ablação por Cateter , Taquicardia Ventricular , Humanos , Estudos Retrospectivos , Resultado do Tratamento , Taquicardia Ventricular/diagnóstico , Taquicardia Ventricular/cirurgia , Taquicardia Ventricular/etiologia , Ventrículos do Coração , Ablação por Cateter/efeitos adversos , Ablação por Cateter/métodos , EletrocardiografiaRESUMO
BACKGROUND: Published studies have shown positive associations of branched chain and aromatic amino acids with type 2 diabetes mellitus (T2DM), and the findings remain consistent. However, the associations of other essential and semi-essential amino acids, i.e., methionine (Met), threonine (Thr), lysine (Lys), arginine (Arg) and histidine (His), with T2DM remain unknown. Obesity is an important independent risk factor for T2DM, and excessive amino acids can convert into glucose and lipids, which might underlie the associations of amino acids with obesity. Therefore, we aimed to estimate the associations between dietary intakes of these 5 amino acids and T2DM risk, as well as the mediation effects of obesity on these associations, in a Chinese population. METHODS: A total of 10,920 participants (57,293 person-years) were included, and dietary intakes of 5 amino acids were investigated using 24-h dietary recalls. Anthropometric obesity indices were measured at both baseline and the follow-up endpoints. Associations of amino acids with T2DM were estimated using COX regression models, hazard ratios (HRs) and 95% confidence intervals (95% CIs) were shown. The mediation effects of obesity indices were analyzed, and the proportion of the mediation effect was estimated. RESULTS: Higher intakes of the 5 amino acids were associated with increasing T2DM risk, while significant HRs were only shown in men after adjustments. No interaction by gender was found. Regression analyses using quintiles of amino acids intakes showed that T2DM risk was positively associated with amino acids intakes only when comparing participants with the highest intake levels of amino acids to those with the lowest intake levels. Adjusted correlation coefficients between amino acid intakes and obesity indices measured at follow-up endpoints were significantly positive. Mediation analyses showed that mediation effects of obesity indices existed on associations between amino acids intakes and T2DM risk, and the mediation effect of waist circumference remained strongest for each amino acid. CONCLUSIONS: We found positive associations of dietary intakes of Met, Thr, Lys, Arg and His with increasing T2DM risk in general Chinese residents, on which the mediation effect of obesity existed. These findings could be helpful for developing more constructive guidance in the primary prevention of T2DM based on dietary interventions.
Assuntos
Diabetes Mellitus Tipo 2 , Dieta , Obesidade , Humanos , Masculino , Aminoácidos/efeitos adversos , Aminoácidos/metabolismo , Arginina , Diabetes Mellitus Tipo 2/epidemiologia , Diabetes Mellitus Tipo 2/etiologia , População do Leste Asiático , Histidina , Lisina , Metionina , Obesidade/epidemiologia , Obesidade/complicações , Racemetionina , Fatores de Risco , TreoninaRESUMO
To clarify the role of TRAF3IP2 in high glucose (HG)-stimulated cardiomyocyte inflammation and apoptosis and its action mechanism. SiRNA plasmid of TRAF3IP2 was constructed and transfected into HG-stimulated cardiomyocytes to silence TRAF3IP2. The expression of TRAF3IP2 was determined by quantitative polymerase chain reaction (qPCR) and western blot. Cell viability and cytotoxicity were first observed using cell counting kit-8 and lactate dehydrogenase assays. The inflammatory injury of the cardiomyocytes was then examined by real time-qPCR (RT-qPCR) and western blot. The oxidative stress of the cardiomyocytes was evaluated using reactive oxygen species assay kit, RT-qPCR, western blot and enzyme activity assay kit. Next, cell apoptosis was detected employing TUNEL and western blot. Finally, RT-qPCR and western blot were performed to investigate the effects of inhibitors of dipeptidyl peptidase-4, including saxagliptin, empagliflozin and linagliptin, on TRAF3IP2. TRAF3IP2 expression was found to be increased in HG-stimulated cardiomyocytes. TRAF3IP2 interference inhibited HG-induced cell viability loss, cytotoxicity, inflammatory response, oxidative stress and apoptosis of the cardiomyocytes. Moreover, saxagliptin, empagliflozin and linagliptin inhibited the expression of TRAF3IP2. TRAF3IP2 interference alleviates HG-induced inflammation and apoptosis of cardiomyocytes. The result suggests that TRAF3IP2 may be a promising therapeutic target in treating diabetic cardiomyopathy.
Assuntos
Cardiomiopatias Diabéticas , Miócitos Cardíacos , Proteínas Adaptadoras de Transdução de Sinal/metabolismo , Proteínas Adaptadoras de Transdução de Sinal/farmacologia , Apoptose , Cardiomiopatias Diabéticas/tratamento farmacológico , Cardiomiopatias Diabéticas/genética , Glucose/metabolismo , Glucose/farmacologia , Humanos , Inflamação/tratamento farmacológico , Inflamação/metabolismo , Estresse OxidativoRESUMO
OBJECTIVE: Acute myocardial infarction (AMI) remains a leading cause of morbidity and mortality worldwide. About half of sudden deaths from AMI are mainly because of malignant ventricular arrhythmias (VA) after AMI. The sodium channel gene SCN5A and potassium channel genes KCNQ1 and KCNH2 have been widely reported to be genetic risk factors for arrhythmia including Brugada syndrome and long QT syndrome (LQTS). A few studies reported the association of SCN5A variant with ventricular tachycardia (VT)/ventricular fibrillation (VF) complicating AMI. However, little is known about the role of KCNQ1 and KCNH2 in AMI with VA (AMI_VA). This study focuses on investigating the potential variants on SCN5A, KCNQ1, and KCNH2 contributing to AMI with VA in a Chinese population. MATERIALS AND METHODS: In total, 139 patients with AMI_VA, and 337 patients with AMI only, were included. Thirty exonic sites were selected to be screened. Sanger sequencing was used to detect variants. A subsequent association study was also performed between AMI_VA and AMI. RESULTS: Twelve variants [5 on KCNH2(NM_000238.3), 3 on KCNQ1(NM_000218.2), and 4 on SCN5A(NM_198056.2)] were identified in AMI_VA patients. Only 5 (KCNH2: c.2690A>C; KCNQ1: c.1927G>A, c.1343delC; SCN5A: c.1673A>G, c.3578G>A) of them are missense variants. Two (KCNQ1: c.1343delC and SCN5A: c.3578G>A) of the missense variants were predicted to be clinically pathogenic. All these variants were further genotyped in an AMI without VA group. The association study identified a statistically significant difference in genotype frequency of KCNH2: c.1539C>T and KCNH2: c.1467C>T between the AMI and AMI_VA groups. Moreover, 2 rare variants (KCNQ1: c.1944C>T and SCN5A: c.3621C>T) showed an elevated allelic frequency (more than 1.5-fold) in the AMI_VA group when compared to the AMI group. CONCLUSION: Twelve variants (predicting from benign/VUS to pathogenic) were identified on KCNH2, KCNQ1, and SCN5A in patients with AMI_VA. Genotype frequency comparison between AMI_VA and AMI identified 2 significant common variants on KCNH2. Meanwhile, the allelic frequency of 2 rare variants on KCNQ1 and SCN5A, respectively, were identified to be enriched in AMI_VA, although there was no statistical significance. The present study suggests that the ion-channel genes KCNH2, KCNQ1, and SCN5A may contribute to the pathogenesis of VA during AMI.
Assuntos
Canal de Potássio ERG1/genética , Canal de Potássio KCNQ1/genética , Infarto do Miocárdio/patologia , Canal de Sódio Disparado por Voltagem NAV1.5/genética , Fibrilação Ventricular , Doença Aguda , Idoso , Feminino , Frequência do Gene , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Infarto do Miocárdio/genéticaRESUMO
AIMS: Cerebrovascular complications are relatively uncommon, but severe adverse events are associated with catheter ablation of atrial fibrillation (AF). This study aimed to investigate the incidence, risk factors, and hospital outcomes of cerebrovascular events complicating AF ablation. METHODS AND RESULTS: Cerebrovascular complications occurring during the procedure or hospitalization after AF ablation were assessed. Cerebrovascular events occurred in 9 of 1946 consecutive procedures (0.46%). Seven patients (0.36% per procedure) were diagnosed with ischaemic stroke and two patients (0.1% per procedure) with intracranial haemorrhage (ICH). Six events (6/9, 66.7%) occurred during the ablation and the remainders within 24 h after the ablation. Multivariable analysis revealed that previous ischaemic stroke [odds ratio (OR) 10.549; 95% confidence interval (CI) 2.551-43.625, P = 0.001] and mechanical valve replacement (OR 3.261; 95% CI 1.337-7.953, P = 0.009) were independent predictors. In a separate model, CHA2DS2-VASc score ≥3 (OR 7.992; 95% CI 2.046-31.215, P = 0.003) and mechanical valve replacement (OR 4.104; 95% CI 1.644-10.245, P = 0.002) were significantly associated with cerebrovascular complications. All patients survived to discharge except the two cases with ICH. CONCLUSION: Cerebrovascular complications related to catheter ablation of AF are relatively infrequent and typically occur early either during the procedure or within the first 24 h after AF ablation. Previous ischaemic stroke, mechanical valve replacement, and CHA2DS2-VASc score ≥3 are independent predictors of such complications. The majority of these events are ischaemic stroke with a benign clinical outcome, while ICH may correlate with poor prognosis.
Assuntos
Fibrilação Atrial/cirurgia , Ablação por Cateter/efeitos adversos , Transtornos Cerebrovasculares/epidemiologia , Idoso , Fibrilação Atrial/diagnóstico , Fibrilação Atrial/epidemiologia , Fibrilação Atrial/fisiopatologia , Biópsia , Isquemia Encefálica/epidemiologia , Angiografia Cerebral/métodos , Transtornos Cerebrovasculares/diagnóstico por imagem , Transtornos Cerebrovasculares/terapia , China/epidemiologia , Feminino , Implante de Prótese de Valva Cardíaca/efeitos adversos , Humanos , Incidência , Hemorragias Intracranianas/epidemiologia , Modelos Logísticos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Análise Multivariada , Razão de Chances , Fatores de Risco , Acidente Vascular Cerebral/epidemiologia , Fatores de Tempo , Tomografia Computadorizada por Raios X , Resultado do TratamentoRESUMO
AIMS: The aim of the study was to describe the complex electrophysiological features of accessory pathways (APs) in adult Ebstein's anomaly (EA). METHODS AND RESULTS: We performed a retrospective study of 17 consecutive adult EA cases with APs who underwent electrophysiological study and radiofrequency catheter ablation (RFCA) from November 2011 to May 2013. There were a total of 24 atrioventricular reentrant tachycardias (AVRTs) due to 23 APs, including 20 (87.0%) non-decremental conducting, 2 (8.7%) decremental conducting, and 1 (4.3%) nodofascicular bundle. Six (6/17 = 35.3%) patients had two APs while others had only one. Twenty-one APs (91.3%) in 15 patients were manifested and 2 APs (8.7%) in 2 patients were concealed. Six APs (26.1%) were broad, while 17 APs (73.9%) were narrow in width. Two patients suffered from duodromic tachycardias mediated by two APs. Accessory pathways were mainly located on the posterior, posteroseptal, and posterolateral tricuspid annulus (TA). Right ventriculography confirmed that all APs were located on the anatomic TA. All the patients remained free from tachycardias during 11.9 ± 6.8 months of follow-up after RFCA. For the 15 patients with manifest APs, 10 patients' electrocardiograms (ECGs) after RFCA demonstrated morphologies of right bundle branch block, while 5 patients' ECGs were normal. CONCLUSIONS: Accessory pathways in EA are predominantly right-sided, manifest and localize to the lower half of the anatomic TA. A number of APs in EA have broad widths. The incidence of multiple APs is high in these patients and RFCA is effective.
Assuntos
Feixe Acessório Atrioventricular/fisiopatologia , Anomalia de Ebstein/complicações , Taquicardia por Reentrada no Nó Atrioventricular/etiologia , Feixe Acessório Atrioventricular/cirurgia , Adolescente , Adulto , Ablação por Cateter , China , Anomalia de Ebstein/diagnóstico , Anomalia de Ebstein/fisiopatologia , Eletrocardiografia , Técnicas Eletrofisiológicas Cardíacas , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Taquicardia por Reentrada no Nó Atrioventricular/diagnóstico , Taquicardia por Reentrada no Nó Atrioventricular/fisiopatologia , Taquicardia por Reentrada no Nó Atrioventricular/cirurgia , Fatores de Tempo , Resultado do Tratamento , Adulto JovemRESUMO
Currently, associations between dietary intakes of individual monounsaturated fatty acids (MUFAs) and hypertension were not well disclosed, and the interaction effects of MUFAs on their associations with hypertension were unknown. Obesity was correlated with both MUFAs and hypertension, while if anthropometric obesity indices performed mediating roles in associations between MUFAs and hypertension remained underdetermined. In our study, 8509 Chinese adults investigated from 2004 to 2011 were included. Dietary information collection and physical examinations were performed at baseline and each timepoint of follow-up. As we found, inverse associations of MUFA17, MUFA18 and MUFA20 with hypertension were statistically significant after adjustments, hazard ratios (HRs) were 0.87, 0.90 and 0.91, respectively. MUFA15 was positively associated with hypertension, with an HR of 1.07 (95% confidence interval: 1.01, 1.12). By performing principal component analysis (PCA) to estimate the joint effects of MUFAs on hypertension, the PCA score of MUFAs was only inversely associated with blood pressure. No joint effect was observed in g-computation analyses. Both linear and nonlinear interactions of MUFAs on their associations with hypertension were estimated using restricted cubic spline analysis. The association between MUFA15 and hypertension was interacted by MUFA17, and the association between MUFA20 and hypertension was interacted by MUFA18. The mediation effects of body mass index and waist circumference were found on associations of hypertension with MUFA15, MUFA17 and MUFA20. Our findings suggested that associations with hypertension were different among individual MUFAs, and mutual interactions existed, implying that the utility of individual MUFAs might be recommended for estimating relationships between MUFAs and diseases. Moreover, fat accumulation might potentially underlie associations between MUFAs and hypertension.
Assuntos
Ácidos Graxos Monoinsaturados , Hipertensão , Humanos , Hipertensão/epidemiologia , Masculino , Feminino , Pessoa de Meia-Idade , Adulto , China/epidemiologia , Pressão Sanguínea , Obesidade/epidemiologia , Índice de Massa Corporal , Idoso , População do Leste AsiáticoRESUMO
The dietary intake of branched-chain amino acids (BCAAs) has been reported to be associated with both elevated blood pressure (BP) and hypertension risk, while published findings were inconsistent, and the causality has never been well disclosed. We performed this prospective study aiming to find out the relationship between dietary BCAAs intake and hypertension risk in the Chinese population. A total of 8491 participants (40,285 person-years) were selected. The levels of dietary BCAAs intake were estimated using the 24-h Food Frequency Questionnaire. Associations of both BP values and hypertension risk with per standard deviation increase of BCAAs were estimated using linear and COX regression analysis, respectively. The hazard ratios and 95% confidence interval were given. Restricted cubic spline analysis (RCS) was used to estimate the nonlinearity. Both systolic and diastolic BP values at the end points of follow-up were positively associated with dietary BCAAs intake. Positive associations between BCAAs intake and hypertension risk were shown in both men and women. By performing a RCS analysis, the nonlinear relationship between BCAAs intake and hypertension was shown. As the intake levels of Ile, Leu, and Val, respectively, exceeded 2.49 g/day, 4.91 g/day, and 2.88 g/day in men (2.16 g/day, 3.84 g/day, and 2.56 g/day in women), the hypertension risk increased. Our findings could provide some concrete evidence in the primary prevention of hypertension based on dietary interventions.
Assuntos
Aminoácidos de Cadeia Ramificada , Hipertensão , China/epidemiologia , Feminino , Humanos , Hipertensão/epidemiologia , Hipertensão/etiologia , Masculino , Estudos Prospectivos , Fatores de RiscoRESUMO
Background: The feasibility and safety of left bundle branch pacing (LBBP) in patients with conduction diseases following prosthetic valves (PVs) have not been well described. Methods: Permanent LBBP was attempted in patients with PVs. Procedural success and intracardiac electrical measurements were recorded at implant. Pacing threshold, complications, and echocardiographic data were assessed at implant and follow-up visit. Results: Twenty-two consecutive patients with atrioventricular (AV) conduction disturbances (10 with AV nodal block and 12 with infranodal block) underwent LBBP. The PVs included aortic valve replacement (AVR) in six patients, mitral valve repair or replacement (MVR) with tricuspid valve ring (TVR) in four patients, AVR with TVR in one patient, AVR with MVR plus TVR in three patients, transcatheter aortic valve replacement (TAVR) in five patients, and MVR alone in three patients. LBBP succeeded in 20 of 22 (90.9%) patients. LBB potential was observed in 15 of 22 (68.2%) patients, including 10 of 15 (66.7%) patients with AVR/TAVR and five of seven (71.4%) patients without AVR/TAVR. AVR and TVR served as good anatomic landmarks for facilitating the LBBP. The final sites of LBBP were 17.9 ± 1.4 mm inferior to the AVR and 23.0 ± 3.2 mm distal and septal to the TVR. The paced QRS duration was 124.5 ± 13.8 ms, while the baseline QRS duration was 120.0 ± 32.5 ms (P = 0.346). Pacing threshold and R-wave amplitude at implant were 0.60 ± 0.16 V at 0.5 ms and 11.9 ± 5.5 mV and remained stable at the mean follow-up of 16.1 ± 10.8 months. No significant exacerbation of tricuspid valve regurgitation was observed compared to baseline. Conclusion: Permanent LBBP could be feasibly and safely obtained in the majority of patients with PVs. The location of the PV might serve as a landmark for guiding the final site of the LBBP. Stable pacing parameters were observed during the follow-up.
RESUMO
AIMS: Fabry disease (FD) is an X-linked genetic disease caused by mutations in the GLA gene that leads to deficient activity of lysosomal enzymes, accumulation of globotriaosylceramide in multi-organ systems, and variant clinical manifestations. We aimed to detail the clinical and genetic spectrum of FD in Chinese families. METHODS AND RESULTS: Five male probands with unexplained left ventricular hypertrophy and their family members were investigated. Genetic screening was available in 11 subjects of the 5 families, 10 of whom proved to be carriers of either GLA gene mutation, including 3 previous reported missense mutations (c.128G > A, c.811G > A, c.950T > C), 1 novel missense mutation (c.37G > C), and 1 novel deletion mutation (c.1241delT). A total of 17 patients were definitely or possibly diagnosed of FD, given their clinical manifestations and hereditary nature of FD. Echocardiography demonstrated normal cardiac structure and function in six female patients. Electrocardiographic pre-excitation occurred in 80% (4/5) of men and 16.7% (1/6) of women. Six patients (6/14, 42.9%) had chronic kidney disease with decreased renal function and all were male (6/7, 85.7%). Six patients presented with acroparesthesia, hypohidrosis, or both. Three female patients and two male patients experienced sudden death, and one male patient with the mutation (c.128G > A) died of progressive heart failure, between 41 and 66 years of age. CONCLUSIONS: We reported five unrelated families of FD with different GLA mutations. Clinical manifestations were highly heterogeneous between male and female patients even within the same family. Female patients showed relatively low risks of structural heart disease and renal insufficiency. However, the long-term outcomes might be adverse in both sexes. Our study underlines the importance of molecular screening of the GLA gene for early identification and clinical decision making in patients with FD.
Assuntos
Doença de Fabry , China/epidemiologia , Doença de Fabry/diagnóstico , Doença de Fabry/genética , Feminino , Testes Genéticos , Humanos , Masculino , Mutação , alfa-Galactosidase/genéticaRESUMO
PURPOSE: To clarify the electrophysiological mechanism of supra-ventricular tachycardias (SVT) with concealed nodo-ventricular (NV) fibers. METHODS: We studied the intra-cardiac electrograms during electrophysiological study (EPS) of three cases of SVT which concerned concealed NV fibers. Electrophysiological maneuvers including right ventricular apex entrainments, RS2 stimuli, adenosine triphosphate injection and so on were done for differential diagnosis before ablation. RESULTS: Among these patients, one had atrio-ventricular nodal reentrant tachycardia (AVNRT) with a bystander NV fiber; the other 2 had NV fiber mediated orthodromic reentrant tachycardias (NVRT). VA dissociation was observed during SVT in all 3 cases with an antegrade His bundle conduction sequence. Ventricular stimulation at His refractory period reset the H-H intervals and the V-V intervals sequentially, suggesting the existence of a retrogradely conductive accessory pathway. Adenosine injection could terminate these tachycardias. The cycle length of an NVRT prolonged during the status of functional right bundle branch block, suggesting that the fiber located on the right side. Multiple QRS fusion morphologies during ventricular entrainments or ventricular stimulation at His refractory period at a fixed position could be observed in these cases. CONCLUSIONS: Concealed NV fibers can either mediate orthodromic reentrant tachycardia or be a bystander of AVNRT. V-A dissociation usually occur during such SVTs. Dissociation of H and V due to entrainment of right ventricular apex is a newly discovered maneuver to differentiate AVNRT from NVRT.
Assuntos
Taquicardia por Reentrada no Nó Atrioventricular , Taquicardia Supraventricular , Taquicardia Ventricular , Nó Atrioventricular , Eletrocardiografia , Humanos , Taquicardia Supraventricular/diagnóstico , Taquicardia Ventricular/diagnósticoRESUMO
BACKGROUND: Ablation of para-Hisian ventricular arrhythmias (PH-VAs) is challenging because of the close relationship of the origin site and His bundle. Using pacing techniques to differentiate the near-field from far-field His activations, thereby avoiding atrioventricular block, has been reported in patients with para-Hisian accessory pathways. OBJECTIVES: We applied the same pacing technique and 3-dimensional mapping to guide radiofrequency (RF) ablation in patients with right-sided PH-VAs and investigated the clinical outcome of such cases. METHODS: Fourteen patients with right-sided PH-VAs were included in this study. The earliest activation sites were confirmed in the right ventricle on the 3-dimensional map. Pacing with different outputs was performed at the largest His potential site (P1) and the earliest activation site (P2). If the minimum His bundle-right bundle branch-captured output at P2 was higher than that at P1, RF ablation was performed at the site. RESULTS: All the patients in this study had monomorphic premature ventricular contractions (PVCs) with a mean QRS duration of 118.3 ± 8.1 ms. A His-right bundle branch potential with an amplitude of 0.05 ± 0.02 mV was recorded at P2, with a mean distance of 5.97 ± 1.84 mm away from P1. PVCs were successfully eliminated in 13 of 14 patients (92.9%). One patient exhibited persistent right bundle branch block after ablation, and 1 recurrence of ablated PVCs occurred during a median follow-up period of 15 months. CONCLUSION: Using a simple pacing technique to evaluate the safety of RF energy application led to a high success rate of RF catheter ablation of right-sided PH-VAs without atrioventricular block.
Assuntos
Feixe Acessório Atrioventricular/cirurgia , Ablação por Cateter , Complexos Ventriculares Prematuros , Fascículo Atrioventricular/cirurgia , Ventrículos do Coração , HumanosRESUMO
The study described here aimed to evaluate left ventricular (LV) systolic mechanical synchronization during permanent selective His bundle pacing (SHBP) using 3-D speckle-tracking echocardiography post-operatively and 6 mo after pacemaker implantation in 62 patients randomly assigned to SHBP (nâ¯=â¯32) or right ventricular apical pacing (RVAP, nâ¯=â¯30). A standard apex four-chamber view was exposed and was transformed into full-volume mode under 3-D echocardiography. Three-dimensional speckle-tracking echocardiography was analyzed offline. The primary endpoint was LV mechanical synchronization post-operatively and during the 6-mo follow-up. Significant LV dyssynchrony was detected while evaluating the maximum time difference and standard deviation of 16-segment systolic time to peak 3-D strain at 1 wk and 6 mo. The pacing thresholds were significantly higher in the SHBP than in the RVAP group throughout follow-up. The R-wave amplitude was significantly lower in the SHBP group than with RVAP. The pacing parameters during SHBP were as stable as during conventional RVAP during the mid-term follow-up. In conclusion, 3-D speckle-tracking echocardiography is feasible and provides a more convenient method for evaluating LV synchrony.
Assuntos
Fascículo Atrioventricular/diagnóstico por imagem , Fascículo Atrioventricular/fisiologia , Estimulação Cardíaca Artificial/métodos , Ecocardiografia Tridimensional/métodos , Ventrículos do Coração/diagnóstico por imagem , Função Ventricular/fisiologia , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Estudos ProspectivosRESUMO
BACKGROUND: Electrocardiographic (ECG) characteristics of true right ventricular outflow tract (RVOT) septal pacing have not been clearly demonstrated. HYPOTHESIS: We hypothesized that ECG parameters would help operators differentiate true RVOT septum from non-septal septum. METHODS: We analyzed 151 patients who underwent pacemaker implantation with a ventricular lead in the RVOT. Transthoracic echocardiographic (TTE) determination of pacing sites was applied in all patients after implantation. A 12-lead ECG was recorded during forced ventricular pacing. RESULTS: According to TTE orientation, pacing at the RVOT septum was achieved in 94 patients (62.3%). Compared with nonseptal pacing, septal pacing had significantly shorter QRS duration (139.2 ± 18.5 ms vs 155.5 ± 14.7 ms; P < 0.001). More frequent negative or isoelectric QRS vector in lead I (76% vs 32%; P < 0.001), lead II/III R-wave amplitude ratio < 1 (52% vs 25%; P = 0.001), and aVR/aVL QS-wave amplitude ratio < 1 (59% vs 32%; P = 0.001) were observed in septal pacing. Transitional zone (TZ) score (3.8 ± 0.96 vs 4.2 ± 0.90; P = 0.004) and TZ index (0.3 ± 0.5 vs 0.6 ± 0.7; P = 0.008) were significantly lower in septal pacing than in nonseptal pacing, respectively. In multivariate analysis, paced QRS duration and negative or isoelectric QRS vector in lead I independently predicted RVOT septal pacing (P < 0.001). At ROC curve analysis, paced QRS duration ≤145 ms identified RVOT septal pacing with 85.1% sensitivity and 78.9% specificity. CONCLUSIONS: This study reveals the heterogeneity of lead placement within the RVOT. Narrower paced QRS duration and negative or isoelectric QRS vector in lead I independently predict RVOT septal pacing.
Assuntos
Fibrilação Atrial/terapia , Estimulação Cardíaca Artificial/métodos , Ecocardiografia/métodos , Eletrocardiografia , Função Ventricular Direita/fisiologia , Septo Interventricular/diagnóstico por imagem , Fibrilação Atrial/diagnóstico , Fibrilação Atrial/fisiopatologia , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Estudos Retrospectivos , Resultado do TratamentoRESUMO
OBJECTIVES: This study aimed to evaluate the electrophysiological mechanisms of post-surgical atrial tachycardias (ATs) during mapping with an automated high-resolution mapping system (Rhythmia, Boston Scientific, Marlborough, Massachusetts). BACKGROUND: Mapping and ablation of post-operative ATs following previous open-heart surgery is often challenging because the potential mechanisms remain incompletely understood. METHODS: Fifty-one consecutive patients underwent mapping and ablation of post-surgical ATs. RESULTS: A total of 64 ATs were identified, and the mechanism was macro re-entry in 58 of 63 (92.1%) ATs, focal in 4 ATs, localized micro re-entry in 1 AT, and undetermined in 1 AT. Of 11 patients who underwent surgical repair of congenital heart disease, 6 (54.5%) had peri-tricuspid re-entrant AT, 5 had either right atrial (RA) free-wall incisional ATs or figure-8 re-entrant ATs, with an isthmus between the tricuspid annulus and the RA free-wall incision or between the incisions, and none had left atrial (LA) or focal ATs. In 32 patients with valve replacement and 8 who underwent valvuloplasty, peri-tricuspid ATs were observed in 14 (43.4%) and 6 (75%) patients, RA free wall or septal incisions-related ATs were seen in 7 and 2 patients, and LA macro re-entrant ATs were observed in 12 patients and 1 patient, respectively. A macro pseudo re-entry pattern was identified in 8 of 51 patients (15.7%). All these activations could be easily excluded by manually moving the window of interest, except in 2 cases with a figure-8 re-entrant configuration. CONCLUSIONS: RA macro re-entrant ATs predominate, irrespective of the types of initial surgical procedures, but LA ATs occur more frequently in patients with valve replacement. Pseudo re-entry atrial activation is common and easily recognized by adjusting the mapping window.
Assuntos
Técnicas Eletrofisiológicas Cardíacas/métodos , Complicações Pós-Operatórias , Taquicardia , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias/diagnóstico , Complicações Pós-Operatórias/fisiopatologia , Estudos Prospectivos , Taquicardia/diagnóstico , Taquicardia/fisiopatologiaRESUMO
Precise prevalence of atrial fibrillation (AF) and the associated risk factors in southern China are rarely reported. This large population-based follow-up study, the Guangzhou Heart Study, was conducted from 2015 to 2017 to fill up this gap. Permanent residents aged 35 years and above in Guangzhou city were enrolled and demographic factors of participants were collected by a structured questionnaire. Examinations of physical, electrocardiographic and biochemical indicators were performed following a standard operation procedure designed prior to the field investigation. Descriptive statistics were used to evaluate basic characteristics of the study participants, and multivariate logistic regression model was performed to assess the AF prevalence-related factors. The detailed study design, the baseline characteristics and the prevalence of AF were reported here. In total, 12,013 residents were enrolled, and the percentage of participants from rural and urban areas was 53.92% and 46.08%, respectively. In total, 90.57% participants aged 40-79 years old and the proportion of women was more than men (64.98% vs. 35.02%). Overall, the prevalence of AF among the participants was 1.46%. Increasing age, male sex and widowed marital status were associated with higher AF prevalence (P-value < 0.05). The prevalence of AF increased with age and climbed to approximately 5% in residents aged 80 years and over. Residents with abnormal higher blood level of total cholesterol tended to have a lower AF prevalence but a higher prevalence of AF was observed in female participants with lower level of high density lipoprotein cholesterol land higher level uric acid (all P-value < 0.05). Personal illness such as hypertension, diabetes mellitus, dyslipidemia, myocardial infarction, heart failure, stroke and transient ischemic were significantly linked to the attack of AF (all P-value < 0.05). This study will be rich resource for investigating environmental exposure and individual genetic diathesis of AF and other common cardiovascular diseases in Chinese population.
Assuntos
Fibrilação Atrial/epidemiologia , Modelos Biológicos , População Rural , População Urbana , Adulto , Fatores Etários , Idoso , Fibrilação Atrial/fisiopatologia , China/epidemiologia , Feminino , Humanos , Pessoa de Meia-Idade , Prevalência , Fatores SexuaisRESUMO
AIMS: To summarize our experience of radiofrequency catheter ablation (RFCA) for recurrent drug-refractory ventricular tachycardias (VTs) due to arrhythmogenic right ventricular cardiomyopathy (ARVC) in our center over the past 11 years and its related factors. METHODS AND RESULTS: We reviewed 48 adults (mean age 39.9 ± 12.9 years, range: 14 to 65) who met the present ARVC diagnostic criteria and accepted RFCA for VTs from December 2004 to April 2016. The patients received a total of 70 procedures using two ablation approaches, the endocardial approach in 52 RFCAs, and the combined epicardial and endocardial approach (the combined approach) in 18 RFCAs. Kaplan-Meier survival analysis showed that the combined approach achieved better acute procedural success (p = 0.003) and better long-term outcomes (p = 0.028) than the endocardial approach. Patients who obtained acute procedural success with non-inducibility had better long-term outcomes (p < 0.001). COX regression of multivariate analysis showed that procedural success was the only factor that benefited long-term outcome, irrespective of the endocardial or the combined approach (p = 0.001). The rate of sudden cardiac death (SCD) in patients without procedural success was significantly higher than that in patients with procedural success (p = 0.005). All patients without implantable cardioverter defibrillator (ICD) implantation who had successful final RFCA survived. CONCLUSIONS: The combined approach resulted in better procedural success and long-term VT-free survival compared with the endocardial approach in ARVC patients with recurrent VTs. Acute procedural success with non-inducibility was strongly related to better long-term VT-free survival and reduced SCD, irrespective of whether this was achieved by the endocardial approach or the combined approach.