Polymorphism of CYP3A4 isoenzyme gene in patients with chronic rheumatic heart disease

2021 ◽  
Vol 29 (2) ◽  
pp. 239-244
Author(s):  
Vadim S. Petrov ◽  
Alexander A. Nikiforov ◽  
Elena A. Smirnova
Keyword(s):  
Heart Disease ◽  
Endothelial Function ◽  
Rheumatic Heart Disease ◽  
Respiratory Function ◽  
Vital Capacity ◽  
Interventricular Septum ◽  
Left Ventricular ◽  
Left Ventricular Cavity ◽  
The Right ◽  
Rheumatic Heart

AIM: This study aimed to identify the associations of CYP3A4 isoenzyme gene polymorphism with the parameters of echocardiography (EchoCG), spirometry, and endothelial function of patients with chronic rheumatic heart disease (CRHD). MATERIALS AND METHODS: A total of 128 patients with CRHD (15.6% men and 84.4% women) were examined. A392A, A392G, and G392G polymorphic markers were genotyped through polymerase chain reaction (PCR) with an SNP-EXPRESS electrophoretic scheme (NPF Litekh, Russia) to detect results after DNA was isolated from leukocytes in venous blood. EchoCG was implemented on an Affinity 50 apparatus (Philips, the Netherlands), endothelial function was assessed with an AngioScan01 apparatus (AngioScan-Electronics, Russia), and respiratory function was examined using a SpiroLab II spirometer (MIR Medical, Italy). RESULTS: The distance in a 6 min walk test did not show any significant differences among the groups: A392A 327.47 6.71 m, A392G 303.63 26.19 m, G392G 338.87 20.12 m (p=0.505). The area of the mitral opening was as follows: A392A 1.74 (1.67; 1.81) cm2, A392G 1.68 (1.45; 1.92) cm2, and G392G 1.65 (1.67; 1.81) cm2 (p = 0.214). As for the EchoCG parameters, the group of G392G homozygotes had the lowest linear dimensions of the left ventricle (the end diastolic dimension 4.83 (4.72; 4.95) cm, the end systolic dimension 2.97 (2.79; 3.14) cm, the right ventricle (2.45 [2.32; 2.58] cm), of the right atrium (4.09 [3.56; 4.62] cm), and the criteria of left ventricular hypertrophy (thickness of the interventricular septum 0.88 [0.81; 0.95] cm, and the posterior wall 0.88 (0.81; 0.95 cm). No statistically significant differences were found in the occlusion index amplitude among the groups, that is, single nucleotide replacements of CYP3A4 had no influence on the system of low-resistance arteries. Conversely, the values of the phase shift between channels (reflecting the condition of large arteries) significantly differed. The G392G polymorphism showed the worst parameters, and minimal changes were observed in the A392A group. Contour analysis demonstrated the highest augmentation index values in the G392G group, reflecting the maximal stiffness of vessels. The CYP3A4 polymorphism had no effect on the parameters of respiratory function in the studied cohort of patients. Spirometry revealed that the obstructive and restrictive parameters were not significant although homozygotes demonstrated the highest forced vital capacity of the lungs (76.5% [71.1% and 82.0%]) and forced expiratory volume for 1 s (84.6% [79.0% and 90.3%]). The maximal parameter of the vital capacity of the lungs in homozygotes for A392A (85.6% [82.3% and 88.8%]). CONCLUSION: Patients with CRHD homozygous for G392G had the minimum parameters of hypertrophy and dimensions of the left ventricular cavity. They also had the lowest values for the cavities of the right heart. CYP3A4 polymorphism had no effect on the parameters of respiratory function in the studied patients with CRHD.

P3134Variations in anterior mitral valve leaflet restriction that may lead to the erroneous diagnosis of rheumatic heart disease

2019 ◽  
Vol 40 (Supplement_1) ◽  
Author(s):  
L D Hunter ◽  
M J Monaghan ◽  
G Lloyd ◽  
H W Snyman ◽  
A J K Pecoraro ◽  
...  
Keyword(s):  
Heart Disease ◽  
Mitral Valve ◽  
South African ◽  
Rheumatic Heart Disease ◽  
Screening Program ◽  
Interventricular Septum ◽  
Left Ventricular ◽  
Valve Leaflet ◽  
Mitral Valve Leaflet ◽  
Rheumatic Heart

Abstract Introduction Anterior mitral valve leaflet (AMVL) restriction is a prominent morphological feature of rheumatic heart disease (RHD). The World Heart Federation (WHF) criteria for echocardiographic diagnosis of RHD rely on the use of colloquial terms such as “dog-leg” to define AMVL restriction rather than a strict, reproducible definition. We recognise AMVL restriction when the tip of the leaflet is seen to point away from the interventricular septum and towards the posterior left ventricular (LV) wall at peak diastole in the parasternal long axis (PSLAX) view. This definition however risks inclusion of a finding commonly identified in our high-risk screening program (Echo in Africa- EIA) which demonstrates gradual AMVL bowing (so-called “slow-bow”) from the proximal to mid-leaflet but with free motion ('fluttering') of the tip during diastole. This is in contrast to RHD-related restriction which typically involves the distal AMVL tip only. We propose that the former is a normal variant of the AMVL and is unrelated to the RHD process, provided no concomitant morphological features of RHD are identified. Purpose Determine the prevalence of “slow-bow” AMVL restriction between two cohorts of schoolchildren with a documented high-and low-RHD prevalence. Methods Retrospective analysis of EIA data obtained from children (aged 13–18) attending two separate South African schools. The high-RHD prevalence school (HR) demonstrated a 0.8% rate of WHF “definite RHD”. The low-RHD prevalence school (LR) demonstrated no cases of WHF “definite RHD”. Cases of AMVL restriction were identified and classified according to the definitions provided above. Results A total of 941 screening studies (HR cohort n=577 /LR cohort n=364) were evaluated. 74 cases of AMVL restriction (12.82%, 95%, CI 10.34–15.80) were identified in the HR cohort of which 8 cases demonstrated AMVL-tip restriction (1.39%, 95%, CI 0.70–2.71) and 65 cases demonstrated “slow bow” (11.27%, 95%, CI 8.94–14.11). There were no cases of AMVL-tip restriction observed in the LR-cohort and 35 cases of “slow-bow”(9.62%, 95%, CI 7–13.08). A. “Slow bow”; B. “Distal tip restriction”. Conclusion Our results support the hypothesis that “slow-bow” AMVL restriction is a common variant of the AMVL amongst South African school children and unrelated to the RHD process. Further research is required to investigate the exact mechanism underlying this form of AMVL restriction. Acknowledgement/Funding Edwards Lifescience EHM grant

The polymorphism at the microRNA-155 binding site in AGTR1 gene is not significantly associated with rheumatic heart disease in Saudi Arabia population

MicroRNA ◽  
2020 ◽  
Vol 09 ◽  
Author(s):  
S. Justin Carlus ◽  
Fiona Hannah Carlus ◽  
Mazen Khalid Al-Harbi ◽  
Abdulhadi H Al-Mazroea ◽  
Khalid M Al- Harbi ◽  
...  
Keyword(s):  
Saudi Arabia ◽  
Heart Disease ◽  
Rheumatic Heart Disease ◽  
Clinical Features ◽  
Left Ventricular ◽  
Genotype Distribution ◽  
Allelic Discrimination ◽  
Children And Young Adults ◽  
And Control ◽  
Rheumatic Heart

Background: Rheumatic heart disease (RHD) remains a major cause of cardiovascular diseases and the most devastating effects are on children and young adults. RHD is caused due to the interaction between microbial, environmental, immunologic, and genetic factors. The renin-angiotensin aldosterone system (RAAS) has been strongly implicated as the susceptibility pathway in the pathogenesis of cardiovascular disease. Objective: The present study investigated the modulating effect of Angiotensin II type 1 receptor (AGTR1) 1166A>C polymorphism on the RHD and its clinical features in Saudi Arabia. Methods: AGTR1 1166A>C polymorphism was genotyped in 96 echocardiographically confirmed RHD patients and 142 ethnically matched controls by TaqMan allelic discrimination method. Results: Genotype distribution of the AGTR1 1166A>C polymorphism was not significantly different between RHD and control groups. Further, AGTR1 1166A>C genotypes are not associated with the clinical features of RHD. These data support that there was no evidence for an association between AGTR1 1166A>C polymorphism and RHD in Saudi Arabia. Conclusion: To our knowledge, this is the first study that has investigated the possible association between AGTR1 1166A>C polymorphism and susceptibility to RHD and its clinical features. Even though AGTR1 gene is 1166A>C (rs5186) was reported to be associated with hypertension, left ventricular hypertrophy and coronary heart disease. Present study did not find any association between AGTR1 1166A>C polymorphism and RHD in Saudi Arabia. Further studies are needed to confirm our findings.

scholarly journals Sensitivity and Specificity of Electrocardiographic Criteria for Left Ventricular Hypertrophy in Children with Rheumatic Heart Disease

2019 ◽  
Vol 31 (9-10) ◽  
pp. 233-44 ◽  
Author(s):  
Sudigdo Sastroasmoro ◽  
Bambang Madiyono ◽  
Ismet N. Oesman
Keyword(s):  
Heart Disease ◽  
Left Ventricular Hypertrophy ◽  
Confidence Interval ◽  
Rheumatic Heart Disease ◽  
Ventricular Hypertrophy ◽  
Pediatric Patients ◽  
High Specificity ◽  
Left Ventricular ◽  
Diagnostic Modality ◽  
Rheumatic Heart

Electrocardiographic criteria for left ventricular hypertrophy (L VH) were examined in 84 unselected pediatric patients with rheumatic heart disease. There were 47 male and 3 7 female patients, ranging in age from 6 to 19 years. Electrocardiographic L VH was detected m 41 patients (48.8%), i.e. in 55.3% (26/47) of boys and in 36.6% (15/41) of girls. Echocardiographically determined L VH was present in 42 cases (50%) if left ventricular mass (L VM) was indexed for height, or 47 cases (56%) if L VM was indexed for body surface area (BSA). The overall sensitivity of height-indexed electrocardiographic diagnosis of LVH was 71.4% (95% confidence interval= 57.7% to 85.1%), while its sensitivity was 73.8% (95% confidence interval= 60.0% to 87.0%). For BSA indexed echocardiographic LVH, the sensitivity was 68.1% (95% confidence interval = 54.8 to 81.4%) and the specificity was 75.7% (95% confidence interval = 61.9% to 89.5%). When sex-adjustment was examined, there was no increase of sensitivity of electrocardiographic LVH. Sensitivity of the electrocardiogram for LVH increased when age-adjustment was examined with 13 years of age as a cut-off point, both for height indexed and BSA-indexed echocardiographic LVH. Reasons/or the difference between these findings and the findings in adult patients (remarkably low sensitivity and very high specificity of ECG L VH) were discussed. Electrocardiogram was a moderate diagnostic modality in the detection of L VH in our pediatric patients with rheumatic heart disease. Sex did not influence the sensitivity of ECG L VH, but older age group tended to increase its sensitivity.

Echocardiographic screening of pregnant women by non-physicians with remote interpretation in primary care

2020 ◽  
Author(s):  
Bruno R Nascimento ◽  
Craig Sable ◽  
Maria Carmo P Nunes ◽  
Kaciane K B Oliveira ◽  
Juliane Franco ◽  
...  
Keyword(s):  
Primary Care ◽  
Heart Disease ◽  
Mitral Valve ◽  
Mitral Regurgitation ◽  
Pregnant Women ◽  
Rheumatic Heart Disease ◽  
Morphological Changes ◽  
Severe Disease ◽  
Left Ventricular ◽  
Rheumatic Heart

Abstract Background Impact of heart disease (HD) on pregnancy is significant. Objective We aimed to evaluate the feasibility of integrating screening echocardiography (echo) into the Brazilian prenatal primary care to assess HD prevalence. Methods Over 13 months, 20 healthcare workers acquired simplified echo protocols, utilizing hand-held machines (GE-VSCAN), in 22 primary care centres. Consecutive pregnant women unaware of HD underwent focused echo, remotely interpreted in USA and Brazil. Major HD was defined as structural valve abnormalities, more than mild valve dysfunction, ventricular systolic dysfunction/hypertrophy, or other major abnormalities. Screen-positive women were referred for standard echo. Results At total, 1 112 women underwent screening. Mean age was 27 ± 8 years, mean gestational age 22 ± 9 weeks. Major HD was found in 100 (9.0%) patients. More than mild mitral regurgitation was observed in 47 (4.2%), tricuspid regurgitation in 11 (1.0%), mild left ventricular dysfunction in 4 (0.4%), left ventricular hypertrophy in 2 (0.2%) and suspected rheumatic heart disease in 36 (3.2%): all, with mitral valve and two with aortic valve (AV) involvement. Other AV disease was observed in 11 (10%). In 56 screen-positive women undergoing standard echo, major HD was confirmed in 45 (80.4%): RHD findings in 12 patients (all with mitral valve and two with AV disease), mitral regurgitation in 40 (14 with morphological changes, 10 suggestive of rheumatic heart disease), other AV disease in two (mild/moderate regurgitation). Conclusions Integration of echo screening into primary prenatal care is feasible in Brazil. However, the low prevalence of severe disease urges further investigations about the effectiveness of the strategy.

Ventricular activation process and genesis of QRS complex in the goat

1961 ◽  
Vol 200 (2) ◽  
pp. 223-228 ◽  
Author(s):  
Robert L. Hamlin ◽  
Allen M. Scher
Keyword(s):  
Interventricular Septum ◽  
Left Ventricular ◽  
Left Ventricular Cavity ◽  
Activation Process ◽  
Qrs Complex ◽  
Complex Activity ◽  
Single Burst ◽  
Ventricular Activation ◽  
The Right ◽  
Apical Area

The pathways of ventricular excitation in the interventricular septum and the free walls of the ventricles were determined in the goat. During the first 5 msec. of the QRS complex, activity occurs in a cup-shaped zone formed around the apex of the left ventricular cavity, consisting of the left endocardial portions of the septum and the endocardium of the free wall. Within the next 10 msec. of the QRS, the apical third of the septum is excited, simultaneously, from both the left and the right ventricular endocardial surfaces. Also, all of the ventricles, except the bases and a small epicardial apical area of the left ventricle, are excited with almost a single burst of depolarization. During the next 3–5 msec. the ventricular bases and the small apical epicardial area are excited along with the middle third of the interventricular septum. The final 15 msec. of the QRS and approximately 3 msec. of the following isoelectric period are inscribed during activation of the basilar third of the septum.

scholarly journals "Portrait" of patients with pulmonary hypertension, associated with mitral valve diseases before cardiac surgery

2021 ◽  
Vol 10 (2) ◽  
pp. 83-88
Author(s):  
Yu. E. Teplova ◽  
I. N. Lyapina ◽  
V. A. Shaleva ◽  
O. K. Kuzmina ◽  
A. V. Evtushenko ◽  
...  
Keyword(s):  
Atrial Fibrillation ◽  
Pulmonary Hypertension ◽  
Heart Disease ◽  
Mitral Valve ◽  
Left Ventricle ◽  
Right Ventricle ◽  
Rheumatic Heart Disease ◽  
Systolic Function ◽  
The Right ◽  
Rheumatic Heart

Aim. To study “the portrait” of patients with acquired mitral valve (MV) heart disease of various origins and pulmonary hypertension hospitalized for surgical correction of the defect.Methods. The study included 97 patients with acquired diseases of mitral valve and pulmonary hypertension. The assessment of demographic, clinical and anamnestic data, indicators of transthoracic echocardiography, quality of life before the correction of MV defect was carried out.Results. The studied cohort is mostly represented by female patients (n = 70; 72.2%). The most common cause of mitral valve disease was rheumatic heart disease (n = 40; 41.2%). Overweight, hypertension (n = 76; 78.4%) and atrial fibrillation (n = 62; 63.9%) were the most common comorbidities. The mean pressure level in the pulmonary artery according to echocardiography was 35.5 (29.0; 40.0) mm Hg, with no significant difference among the patients, regardless the mitral defect etiology. Less pronounced remodeling of the left ventricle was noted in patients with rheumatic heart disease, which is caused by a lesion of the MV by the type of stenosis in contrast to patients with connective tissue dysplasia syndrome or against the background of detachment of MV chords with MV damage in the form of its insufficiency. There were no significant differences in the systolic function of the right ventricle depending on the etiology of MV defect.Conclusion. The “portrait” of a patient with pulmonary hypertension associated with an acquired mitral valve defect before its correction is the predominance of female, overweight, with II or III functional class of chronic heart failure, more frequent rheumatic genesis of MV defect, the presence of concomitant pathology in the form of hypertension and persistent atrial fibrillation, and increased size of the left atrium and left ventricle, reduced systolic function of the right ventricle according to the data of Echocardiography. 

scholarly journals Cardiac MRI in rheumatic heart disease patients with significant Left ventricular dysfunction

2014 ◽  
Vol 66 ◽  
pp. S141-S142
Author(s):  
Arun Gopalakrishnan ◽  
S. Panneer Selvam ◽  
T.R. Kapilamoorthy ◽  
V.K. Ajit Kumar
Keyword(s):  
Heart Disease ◽  
Rheumatic Heart Disease ◽  
Left Ventricular Dysfunction ◽  
Cardiac Mri ◽  
Ventricular Dysfunction ◽  
Left Ventricular ◽  
Rheumatic Heart

scholarly journals A case report: a rare case of severe aortic incompetence

2020 ◽  
Vol 4 (3) ◽  
pp. 1-5
Author(s):  
Mandeep Singh Sondh ◽  
Rohit Tandon ◽  
Rajiv Gupta ◽  
Gurpreet Singh Wander
Keyword(s):  
Aortic Valve ◽  
Rare Case ◽  
Multimodality Imaging ◽  
Cardiac Computed Tomography ◽  
Interventricular Septum ◽  
Left Ventricular ◽  
Left Ventricular Cavity ◽  
Valve Prosthesis ◽  
Aortic Incompetence ◽  
The Right

Abstract Background Aneurysms of the sinus of Valsalva (SOV) are thin-walled outpouchings most commonly involving the right or non-coronary sinuses. Because they are asymptomatic, they are rarely discovered before they rupture and form an aorto-cardiac fistula. We present a rare case of unruptured aneurysm of the right coronary SOV burrowing into the interventricular septum with severe aortic incompetence and left ventricular dysfunction. To our knowledge, burrowing of the SOV aneurysm (SVA) into the interventricular septum and its large sac-like appearance has never been described using three dimensional (3D) echocardiography before. Case summary A 37-year-old man presented to the cardiology outpatient department with complaints of dyspnoea and palpitations (New York Heart Association Class II–III) for the last 6 months. He was evaluated with transthoracic echocardiography which showed a large mobile sac-like structure with irregular borders bulging and prolapsing into the left ventricular cavity with each cardiac cycle along with severe aortic incompetence. On transoesophageal echocardiogram, the right coronary cusp showed malcoaptation with deformed aortic sinus causing severe aortic incompetence. Cardiac computed tomography showed sparing of right coronary artery at the origin. A diagnosis of SVA was made. The patient underwent aortic valve replacement along with partial resection of the aneurysm. The patient had an uneventful postoperative course. Follow-up echocardiography after 4 weeks showed well-seated aortic valve prosthesis with residual SVA. The ejection fraction decreased from 46–48% to 36–38%. Discussion Comprehensive multimodality imaging can be used for management strategy of SVA.

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