The association between brain natriuretic peptide and tissue Doppler parameters in children with hypertrophic cardiomyopathy (original) (raw)
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The association between brain natriuretic peptide and tissue Doppler parameters
In this study, we investigated the association between brain natriuretic peptide (BNP) levels and tissue Doppler imaging measurements and also screening for deadly mutations in patients with hypertrophic cardiomyopathy (HCM). We enrolled 20 patients diagnosed with HCM (age:10.7±5 years (1-17), 85% male, weight:42.25±23.10 kg, height:141.80±32.45 cm) and 20 age, gender and body weight-matched control subjects. We performed electrocardiography, transthoracic echocardiography, and tissue Doppler echocardiography in each group, as well as genetic tests (for Arg403Gln, Arg453Cys, Arg719Trp and Arg719Gln mutations in MYH7 Exons 13, 14, 19) and BNP in the patients. The patients were divided into two groups according to the presence (Group 1) or absence (Group 2) of left ventricular (LV) outflow tract obstruction. QTc dispersion and the LV ejection fraction and left atrial (LA) volume index were increased in Group 1. The LA volume index and the mitral and septal E/Ea ratio and septum Z-score were increased while the mitral lateral annulus and septal annulus Ea wave velocities and the mitral and tricuspid E/A ratio were decreased in patients with high levels of BNP compared to those with normal BNP levels. There were no mutations that are associated with increased risk of sudden death found in patients included in this study. In the light of our data, we conclude that such parameters BNP levels above the 98 pg/mL, septal thickness Z-score >6, and higher mitral and septal E/Ea ratios can be used for management of patients with HCM according to life-threatening conditions.
Genetic Determinants Of Clinical Phenotype In Hypertrophic Cardiomyopathy 
Research Square (Research Square), 2020
Background: Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disease that affects approximately one in 500 people. HCM is a recognized genetic disorder most often caused by mutations involving myosin-binding protein C (MYBPC3) and β-myosin heavy chain (MYH7) which are responsible for approximately three-quarters of the identi ed mutations. Methods: As a part of the international multidisciplinary SILICOFCM project (www.silicofcm.eu) the present study evaluated the association between underlying genetic mutations and clinical phenotype in patients with HCM. Only patients with con rmed single pathogenic mutations in either MYBPC3 or MYH7 genes were included in the study and divided into two groups accordingly. The MYBPC3 group was comprised of 48 patients (76%), while the MYH7 group included 15 patients (24%). Each patient underwent clinical examination and echocardiography. Results: The most prevalent symptom in patients with MYBPC3 was dyspnea (44%), whereas in patients with MYH7 it was palpitations (33%). The MYBPC3 group had a signi cantly higher number of patients with a positive family history of HCM (46% vs. 7%; p=0.014). There was a numerically higher prevalence of atrial brillation in the MYH7 group (60% vs. 35%, p=0.085). Laboratory analyses revealed normal levels of creatinine (85.5±18.3 vs. 81.3±16.4 µmol/l; p=0.487) and blood urea nitrogen (10.2±15.6 vs. 6.9±3.9 mmol/l; p=0.472) which were similar in both groups. The systolic anterior motion presence was signi cantly more frequent in patients caring MYH7 mutation (33% vs. 10%; p=0.025), as well as mitral lea et abnormalities (40% vs. 19%; p=0.039). Calci cations of mitral annulus were registered only in MYH7 patients (20% vs. 0%; p=0.001). The difference in diastolic function, i.e. E/e' ratio between the two groups was also noted (MYBPC3 8.8±3.3, MYH7 13.9±6.9, p=0.079). Conclusions: Major ndings of the present study corroborate the notion that MYH7 gene mutation patients are presented with more pronounced disease severity than those with MYBPC3.
Clinical Cardiology, 2006
Background: N-terminal pro-brain natriuretic peptide (NT-proBNP) is increased in patients with hypertrophic cardiomyopathy (HCM); however, the determinants of NT-proBNP level have not been clarified in HCM.Hypothesis: This study was performed to determine the relationship between NT-proBNP levels and various echocardiographic variables of patients with HCM and normal left ventricular ejection fraction (LVEF).Methods: We assessed plasma NT-proBNP levels and echocardiographic variables of 36 patients (19 men, 58 ± 14 years) with HCM and an LVEF of ≥ 55%. Echocardiographic variables measured were LV wall thickness, end-diastolic LV internal dimension (LVIDd) and volume (LVEDV), LV mass, and LV mass index (LV mass/body surface area, LVMI). Left ventricular outflow tract pressure gradient, transmitral E and A velocities, deceleration time (DT) of the transmitral E wave, and septal annular E' velocity were measured by Doppler technique. The relationship between echocardiographic variables and plasma NT-proBNP level was analyzed.Results: The plasma NT-proBNP level was 775.2 ± 994.2 pg/ml (range 33.1-729.0 pg/ml). It showed positive correlations with LV end-diastolic septal thickness (r = 0.39, p = 0.010) and LVMI (r = 0.27, p = 0.050), while it revealed negative correlations with LVIDd (r = −0.44, p = 0.004), LVEDV (r= −0.44, p = 0.004) and DT(r= −0.31, p = 0.034). The NT-proBNP level was higher in the patients with than in those without LV diastolic dysfunction (p = 0.03 3) and was independently related to LVIDd (p = 0.001), LVMI (p = 0.006) and DT (p = 0.031) by multivariate analysis.Conclusion: In patients with HCM and normal LVEF, the amount of LV hypertrophy and LV diastolic dysfunction may exert a significant role in determining plasma NT-proBNP level.
Genetic Determinants of Clinical Phenotype in Hypertrophic Cardiomyopathy
Research Square (Research Square), 2020
Background: Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disease that affects approximately one in 500 people. HCM is a recognized genetic disorder most often caused by mutations involving myosin-binding protein C (MYBPC3) and β-myosin heavy chain (MYH7) which are responsible for approximately three-quarters of the identi ed mutations. Methods: As a part of the international multidisciplinary SILICOFCM project (www.silicofcm.eu) the present study evaluated the association between underlying genetic mutations and clinical phenotype in patients with HCM. Only patients with con rmed single pathogenic mutations in either MYBPC3 or MYH7 genes were included in the study and divided into two groups accordingly. The MYBPC3 group was comprised of 48 patients (76%), while the MYH7 group included 15 patients (24%). Each patient underwent clinical examination and echocardiography. Results: The most prevalent symptom in patients with MYBPC3 was dyspnea (44%), whereas in patients with MYH7 it was palpitations (33%). The MYBPC3 group had a signi cantly higher number of patients with a positive family history of HCM (46% vs. 7%; p=0.014). There was a numerically higher prevalence of atrial brillation in the MYH7 group (60% vs. 35%, p=0.085). Laboratory analyses revealed normal levels of creatinine (85.5±18.3 vs. 81.3±16.4 µmol/l; p=0.487) and blood urea nitrogen (10.2±15.6 vs. 6.9±3.9 mmol/l; p=0.472) which were similar in both groups. The systolic anterior motion presence was signi cantly more frequent in patients carrying MYH7 mutation (33% vs. 10%; p=0.025), as well as mitral lea et abnormalities (40% vs. 19%; p=0.039). Calci cations of mitral annulus were registered only in MYH7 patients (20% vs. 0%; p=0.001). The difference in diastolic function, i.e. E/e' ratio between the two groups was also noted (MYBPC3 8.8±3.3, MYH7 13.9±6.9, p=0.079). Conclusions: Major ndings of the present study corroborate the notion that MYH7 gene mutation patients are presented with more pronounced disease severity than those with MYBPC3.
Anadolu Kardiyoloji Dergisi/The Anatolian Journal of Cardiology, 2014
Objective: We aimed to evaluate left atrium (LA) phasic functions and relation with N-terminal pro-B-type natriuretic peptide (NT-proBNP) levels and symptomatic states of the patients with hypertrophic cardiomyopathy (HCM). Methods: Left atrial volume was calculated at end-systole (Vmax), end-diastole and pre-atrial contraction by echocardiography in 75 patients with HCM and 75 control subjects. Left atrial ejection fraction (LAEF), expansion index (LAEI), active emptying volume index (LAAEVI) and fraction (LAAEFr), passive emptying volume index (LAPEVI) and fraction (LAPEFr) were calculated. NT-proBNP levels were measured. Results: Left atrial active emptying volume (LAAEV) positively correlated with Vmax (r=0.343, p=0.003) up to a point, but then reached a plateau with larger LA volumes in HCM group. The LAAEFr was the only variable which was similiar between asymptomatic patients and controls, but was significantly decreased in symptomatic patients (p<0.05). NT-proBNP was correlated with LAEF (r=-0.32, p=0.005), LAEI (r=-0387, p=0.001), and LAAEFr (r=-0.25, p=0.035) but not related with LAPEFr (p=0.4). In receiver operating characteristic curve analysis an NT-proBNP cut-off value of 1415 pg/mL identified reduced LAEF with 87% specificity and 59% sensitivity [AUC=0.77 (95% CI: 0.65-0.89), p=0.004], a cut-off value of 820 pg/mL predicted impaired LAEI with 81% specificity ve 67% sensitivity [AUC=0.78 (95% CI: 0.66-0.9), p<0.001]; while a cut-off value of 1320 pg/mL predicted impaired LAAEFr with 76% specificity and 67% sensitivity [AUC=0.79 (95% CI: 0.68-0.91), p=0.02]. Conclusion: In HCM, LA phasic functions alter according to the Frank-Starling mechanism indicating occurrence of a secondary atrial myopathy. Impairment of LA booster pump function seems to be associated with appearance of symptoms and NT-proBNP levels predict the deterioration of LA reservoir and pump functions in HCM population. (Anadolu Kardiyol Derg 2014; 14(0): 000-000)
Plasma Pro-B-Type Natriuretic Peptide Testing as a Screening Method for Hypertrophic Cardiomyopathy
2012
Background: Clinical multistage risk assessment associated with electrocardiogram (ECG) and NT-proBNP may be a feasible strategy to screen hypertrophic cardiomyopathy (HCM). We investigated the effectiveness of a screening based on ECG and NT-proBNP in first-degree relatives of patients with HCM. Methods and Results: A total of 106 first-degree relatives were included. All individuals were evaluated by echocardiography, ECG, NT-proBNP, and molecular screening (available for 65 individuals). From the 106 individuals, 36 (34%) had diagnosis confirmed by echocardiography. Using echocardiography as the gold standard, ECG criteria had a sensitivity of 0.71, 0.42, and 0.52 for the Romhilt-Estes, Sokolow-Lyon, and Cornell criteria, respectively. Mean values of NT-ProBNP were higher in affected as compared with nonaffected relatives (26.1 vs. 1290.5, P ! .001). The AUC of NT-proBNP was 0.98. Using a cutoff value of 70 pg/mL, we observed a sensitivity of 0.92 and specificity of 0.96. Using molecular genetics as the gold standard, ECG criteria had a sensitivity of 0.67, 0.37, and 0.42 for the Romhilt-Estes, Sokolow-Lyon, and Cornell criteria, respectively. Using a cutoff value of 70 pg/mL, we observed a sensitivity of 0.83 and specificity of 0.98. Conclusion: Values of NT-proBNP above 70 pg/mL can be used to effectively select high-risk firstdegree relatives for HCM screening. (J Cardiac Fail 2012;18:564e568)
Circulation, 1998
Background-Arrhythmogenic right ventricular dysplasia (ARVD) is characterized by local or diffuse wall motion abnormalities in the right ventricle (RV), associated with recurrent ventricular tachycardia (VT) of RV origin. Brain natriuretic peptide (BNP) was first isolated from a porcine brain extract. In humans, BNP is expressed predominantly in the ventricles of failing hearts, and its expression has been observed primarily in myocytes in the interstitial fibrous area in dilated cardiomyopathy. We hypothesized that BNP is increasingly secreted from the residual myocytes within the atrophic tissue in patients with ARVD. Methods and Results-Plasma BNP levels were measured in 17 patients with ARVD, 12 patients with idiopathic RV outflow tract tachycardia (RVOT), and 120 control subjects. We performed cardiac catheterization, RV endomyocardial biopsy, electron-beam CT, and biventricular endomyocardial mapping in the ARVD patients. There was a significant increase in plasma BNP levels in the ARVD patients compared with the RVOT patients and control subjects (61.4Ϯ59.6 pg/mL versus 8.3Ϯ5.5 pg/mL and 9.3Ϯ5.8 pg/mL; PϽ0.0001, respectively). The plasma BNP levels had no correlation with any of the hemodynamic data, but they had a significant correlation with the RV ejection fraction (rϭϪ0.588, Pϭ0.025) and with the fractionated-area scores (rϭ0.705, Pϭ0.005). Light microscopic immunohistochemistry showed strong BNP immunoreactivity in residual myocytes with fibrofatty replacement. Conclusions-These results suggest that plasma BNP levels were not increased in RVOT patients but were increased in ARVD patients, and that the increased BNP levels indicate the severity of both the RV dysfunction and the arrhythmogenic substrate. (Circulation. 1998;98:2433-2440.)
Ventricular Arrhythmias and Left Ventricular Hypertrophy in Hypertrophic Cardiomyopathy
Arquivos Brasileiros de Cardiologia, 2013
Background: In hypertrophic cardiomyopathy (HCM), the degree of left ventricular hypertrophy (LVH) could influence the development of ventricular arrhythmias. Objective: In HCM, analyze the association between the occurrence of ventricular arrhythmias on Holter electrocardiogram (Holter ECG) and the degree of LVH determined by maximum wall thickness (MWT) and mass index (MI) on echocardiography. Methods: Fifty-four consecutive patients with HCM underwent 24-hour Holter ECG and echocardiography for assessment of degree of LVH through MWT and MI. Two levels were established for the occurrence of ventricular arrhythmias: I-isolated or paired extrasystoles and II-non-sustained ventricular tachycardia (NSVT). Results: In 13 patients (24%) with NSVT (level II), there was a higher frequency of left ventricular (LV) MWT ≥ 21 mm (n = 10, 77%, 25 ± 4 mm) and LVMI≥144g/m² (n = 10, 77%, 200 ± 30 g/m²), in comparison with those presenting with only extrasystoles (level I) (n = 41, 76%), in which these measures were identified in, respectively, 37 % (n = 15, 23 ± 1 mm), p = 0.023, and 39% (n = 16, 192 ± 53 g / m²) of the cases p = 0.026. The cutoff values mentioned were determined by the ROC curve with a 95% confidence interval. NSVT was more common in patients with LVMWT ≥ 21 mm and LVMI ≥ 144 g/m² (8 of 13, 62%) than in those with one (4 of 13, 31%) or none (1 of 13; 8%) echocardiographic variables above cutoff values (p = 0.04). Conclusion: In HCM, the occurrence of ventricular arrhythmias on Holter-ECG was associated with the degree of LVH assessed by echocardiography through MWT and MI (Arq Bras Cardiol. 2013; 100(5):452-459).