A total of 90 unrelated Chinese subjects with definite (n=69), borderline (n=15), or possible (n=6) diagnosis of ARVC and 300 age-, sex-, and ethnicity-matched healthy control subjects were recruited for gene analysis at our center. ARVC was diagnosed in all patients according to the revised diagnostic Task Force Criteria. 17 None of the control subjects had a history of cardiovascular or other systemic diseases.This study was performed in accordance with the principles of the Declaration of Helsinki and approved by the Ethics Committees of our hospital. The informed consent for the electrophysiological (EP) study and genetic testing was provided by all participants. EP study was not performed on the control subjects. Clinical EvaluationClinical evaluation including 12-lead ECG and transthoracic echocardiography was performed in all cases. Cardiovascular magnetic resonance and 24-hour Holter monitoring were performed. The EP characteristics of ARVC were assessed by EP study, and the results were correlated with genetic testing of 9 genes that have previously been reported to be related to ARVC, including plakophilin-2 (PKP2), desmocollin-2 (DSC2), desmoglein-2 (DSG2), desmoplakin (DSP), plakoglobin (JUP), transforming growth factor-β3 (TGFβ3), transmembrane protein 43 (TMEM43), desmin (DES), and Lamin A/C (LMNA).All clinical data were reviewed independently by 3 cardiologists with resolution of differences by consensus.Background-Although mutations of several genes are associated with arrhythmogenic right ventricular cardiomyopathy (ARVC), the exact correlation between genotype and ventricular arrhythmia features remains unclear. This study was aimed to examine the possible association of the 9 known genes of ARVC with clinical and electrophysiological characteristics. Methods and Results-Ninety subjects diagnosed with ARVC who underwent electrophysiological study were recruited for screening the 9 known ARVC-causing genes. A total of 53 mutations were identified in 57 (63%) subjects. Mutation carriers had more frequent clinical ventricular tachycardia (VT; 89% versus 55%; P<0.001) and negative T waves in V 1 to V 3 (61% versus 33%; P=0.016). Subjects with plakophilin-2 (PKP2) mutations also had more frequent VT than those without mutations in PKP2. Comparison between subjects with multiple and single mutations showed that syncope occurred more often in the former group (58% versus 24%; P=0.018). VT was significantly more often induced in mutation carriers compared with noncarriers (75% versus 39%; P=0.001), as well as in PKP2 mutation carriers compared with subjects without PKP2 mutations (80% versus 48%; P=0.002). Induced VT with a rate ≥200 bpm was more often documented in mutation carriers (88% versus 54%; P=0.013), as well as in PKP2 mutation carriers (91% versus 67%; P=0.041). Conclusions-Pathogenic
BackgroundAn inverse relationship between body mass index (BMI) and circulating levels of N-terminal proB-type natriuretic peptide (NT-proBNP) has been demonstrated in subjects with and without heart failure. Obesity also has been linked with increased incidence of atrial fibrillation (AF), but its influence on NT-proBNP concentrations in AF patients remains unclear. This study aimed to investigate the effect of BMI on NT-proBNP levels in AF patients without heart failure.MethodsA total of 239 consecutive patients with AF undergoing catheter ablation were evaluated. Levels of NT-proBNP and clinical characteristics were compared in overweight or obese (BMI≥25 kg/m2) and normal weight (BMI<25 kg/m2) patients.ResultsOf 239 patients, 129 (54%) were overweight or obese. Overweight or obese patients were younger, more likely to have a history of nonparoxysmal AF, hypertension, and diabetes mellitus. Levels of NT-proBNP were significantly lower in overweight or obese than in normal weight subjects (P<0.05). The relationship of obesity and decreased NT-proBNP levels persisted in subgroup of hypertension, both gender and both age levels (≥65 yrs and <65 yrs).Multivariate linear regression identified BMI as an independent negative correlate of LogNT-proBNP level.ConclusionsAn inverse relationship between BMI and plasma NT-proBNP concentrations have been demonstrated in AF patients without heart failure. Overweight or obese patients with AF appear to have lower NT-proBNP levels than normal weight patients.
Atrial involvement was common in ARVC. Tricuspid regurgitation and decreased LVEF increased the risk for atrial dilation. Genotype was not associated with atrial involvement.
ObjectiveThis study was designed to assess the sex effect on clinical presentation and outcomes in patients with hypertrophic cardiomyopathy (HCM). Sex has been proved to play an important role in the clinical expression and prognosis of various cardiovascular diseases. Methods A total of 621 unrelated patients with HCM, without heart failure (460 males) were enrolled from 1999 to 2011. Results At baseline, female patients were older (49.6 ± 17.2 years vs. 46.7 ± 14.4 years, p = 0.033) at diagnosis, had greater frequency of left ventricular outflow tract obstruction (72/161, 44.7% vs. 149/460, 32.4%, p = 0.005) than male patients. During follow-up of 4 (2–7) years, survival analysis showed that the incidences of all-cause mortality, cardiovascular death and progression to chronic heart failure were greater in women than in men (p = 0.031, 0.040 and 0.014, respectively). After adjustment for multiple factors that may confound survival and cardiac function, female sex remained an independent risk factor for all-cause mortality, cardiovascular death, and chronic heart failure [hazard ratio (HR) 2.19, 95% confidence interval (CI) 1.21–3.95, p = 0.010; HR 2.19, 95%CI 1.17–4.09, p = 0.014; HR 1.73, 95%CI 1.12–2.69, p = 0.014, respectively] in HCM patients. Subgroup analysis revealed that female sex as a risk factor was only identified in patients younger than 50 years old (p = 0.011, 0.011 and 0.020, respectively), but not in more than 50 years old. Conclusions Our results suggest that female sex is an independent predictor of poor survival and heart failure in HCM patients. Further studies were required to determine whether female hormones modify the clinical expression and prognosis of HCM.
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