JRSM Cardiovascular Disease最新文献

{"title":"Biplane 3D overlay guidance for congenital heart disease to assist cardiac catheterization interventions-A pilot study.","authors":"Ravi V Vegulla, Gerald Greil, Surendranath V Reddy, Luis Zabala, Vivian Dimas, Yousef Arar, Antonia Pontiki, Kawal Rhode, Tarique Hussain","doi":"10.1177/20480040241274521","DOIUrl":"10.1177/20480040241274521","url":null,"abstract":"<p><p>Cardiac catheterization for congenital heart disease (CHD) performed under fluoroscopic guidance still lacks definition and requires exposure to ionizing radiation and contrast agents, with most patients needing multiple procedures through their lifetime, leading to cumulative radiation risks. While fusion overlay techniques have been employed in the past to aid, these have been limited to a single plane, while interventions are traditionally performed under biplane fluoroscopy. We describe our initial experience performing cardiac catheterizations guided by an enhanced biplane GuideCCI system^© (Siemens Healthcare, Germany) augmented by 3D magnetic resonance imaging and computed tomography modeling. Twenty-one children and young adults with CHD undergoing catheterization procedures between October 2019 and May 2021 were chosen based on their degree of complexity of cardiac anatomy. 3D stereolithography models were generated, overlayed, and displayed in real time, alongside angiographs in both planes on the screen during these procedures. We report successful implementation of this novel technology for performance of 26 interventions including stent placements, balloon dilations, vessel occlusion and percutaneous valve and transvenous pacemaker implantation all in patients with various complex cardiac anatomies. A statistically significant reduction in radiation and contrast use was noted for coarctation of the aorta stent angioplasty and transcatheter pulmonary valve replacement when compared with national benchmarks and local institutional metrics (with and without single plane overlay). No complications were encountered with the use of this technology. Use of a tracheal registration technique provided very good correlation in most cases. Operators preferred using biplane augmented catheterization over traditional fluoroscopy in patients with complex cardiac anatomy undergoing interventions.</p>","PeriodicalId":30457,"journal":{"name":"JRSM Cardiovascular Disease","volume":"13 ","pages":"20480040241274521"},"PeriodicalIF":1.4,"publicationDate":"2024-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11418336/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142308680","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Impact of the completeness of revascularization and high bleeding risk status in acute coronary syndrome patients with multi-vessel disease: A retrospective analysis.","authors":"Tanawat Attachaipanich, Phasakorn Putchagarn, Tasalak Thonghong, Krit Leemasawat, Panupong Pota, Aekapat Phoksiri, Srun Kuanprasert, Pannipa Suwannasom","doi":"10.1177/20480040241283152","DOIUrl":"https://doi.org/10.1177/20480040241283152","url":null,"abstract":"<p><strong>Objectives: </strong>To investigate the long-term mortality of acute coronary syndrome (ACS) patients with multivessel disease according to the level of completeness of revascularization (CR) and high-bleeding risk (HBR) status.</p><p><strong>Design setting and participants: </strong>This retrospective study collected the data of ACS patients with multivessel disease who underwent percutaneous coronary intervention between May 2018 and February 2019. Complete to reasonable revascularization (CR) was defined by the residual Synergy Between Percutaneous Coronary Intervention with Taxus and Cardiac Surgery score (RSS) of 0 to ≤8. The HBR was defined by the PRECISE-DAPT score ≥25.</p><p><strong>Main outcome measures: </strong>The all-cause death at 36 months according to the CR and HBR status.</p><p><strong>Results: </strong>A total of 209 patients with 743 lesions were included in the analysis. The median follow-up was 3.6 years. Patients with CR had lower event rates than ICR (4.5 vs. 11.5 per 100 patient-year, HR 0.39, 95% CI 0.22-0.70), p = 0.002). Similar observations were noted when compared between non-HBR and HBR (3.9 vs. 11.1 per 100 patient-year, HR 0.35, 95% CI 0.18-0.64, p < 0.001). Kaplan-Meier analysis revealed that all-cause death was highest among those in the ICR/HBR (40.5%) followed by ICR/non-HBR (28.6%), CR/non-HBR (28.3%) and the lowest among the CR/HBR group (7.1%), log-rank p = <0.001. No significant interaction was observed between the two factors regarding all-cause death (p = 0.10 for interaction).</p><p><strong>Conclusions: </strong>In ACS patients with MVD, the achievement of CR was associated with reducing mortality rates and consistency irrespective of the HBR status. (Trial Registration: TCTR20211222003).</p>","PeriodicalId":30457,"journal":{"name":"JRSM Cardiovascular Disease","volume":"13 ","pages":"20480040241283152"},"PeriodicalIF":1.4,"publicationDate":"2024-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11437547/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142355477","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Metabolic syndrome and its associated factors among adults with cardiac diseases: A cross-sectional comparative group study.","authors":"Alemayehu Abera, Mekdes Shifeta, Sisay Tesfaye, Bedasa Addisu, Agete Tadewos Hirigo","doi":"10.1177/20480040241271789","DOIUrl":"10.1177/20480040241271789","url":null,"abstract":"<p><strong>Objective: </strong>There is limited information about the extent of metabolic syndrome (MetS) among subjects with cardiac diseases in Ethiopia. Therefore, this study aimed to determine the prevalence and associated factors of MetS among adults with cardiac diseases.</p><p><strong>Methods: </strong>A cross-sectional study was conducted at Hawassa University Comprehensive Specialized Hospital in southern-Ethiopia between May 2021 and August 2021. Data pertaining to the study were collected from 319 participants (153 cardiac and 166 non-cardiac groups) using the WHO stepwise approach. The International Diabetes Federation (IDF) and the revised National Cholesterol Education Program: Adult Treatment Panel III (ATP) were used to define MetS.</p><p><strong>Results: </strong>The prevalence of MetS was 44.2% and 50.2% in IDF and ATP III, respectively. Among the cardiac group, 54.9% had MetS in IDF criteria, compared to 34.3% in the non-cardiac group (<i>p</i> < .001); whereas, it was 60.1% in the cardiac group and 41% in non-cardiac group (<i>p</i> < .001) by ATP III. Age >60 years, waist-height ratio ≥5, high waist-hip ratio, body mass index 25-29.9 and ≥30 kg/m² were significantly associated with higher odds of MetS in both IDF and ATP III. Also, smoking history and monthly income were associated with MetS by ATP III, while being female was associated with higher odds of MetS by IDF.</p><p><strong>Conclusion: </strong>More than half of the subjects with cardiac diseases developed MetS as compared to non-cardiac controls. Periodic screening and focusing on the identified modifiable high-risk factors such as body weight, smoking, and central adiposity is important to effectively mitigate the risk of further comorbidity and complications in this high-risk population.</p>","PeriodicalId":30457,"journal":{"name":"JRSM Cardiovascular Disease","volume":"13 ","pages":"20480040241271789"},"PeriodicalIF":1.4,"publicationDate":"2024-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11329911/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142000815","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Causal roles of immune cells in cardiovascular diseases: A Mendelian randomization (MR) study.","authors":"Virak Vicheth, Chongbin Zhong, Junjie Guan, Xuwei Zhang, Deshu Chen, Pingzhen Yang","doi":"10.1177/20480040241271777","DOIUrl":"10.1177/20480040241271777","url":null,"abstract":"<p><strong>Background: </strong>Despite being a major global cause of mortality, the exact underlying mechanisms of cardiovascular diseases (CVDs) remain uncertain. This study aimed to elucidate the possible pathological connection between circulating activated immune cell types and the advancement of CVD.</p><p><strong>Methods: </strong>A two-sample Mendelian randomization analysis was performed on publicly available genetic databases to examine the potential causal relationships among 731 immune phenotypes and CVD risks. The study focused on four distinct immune signatures: relative cell counts (RC), absolute cell counts (AC), morphological parameters (MP), and median fluorescence intensities (MFI). A sensitivity analysis was performed to assess the findings' consistency, robustness, and potential pleiotropic effects.</p><p><strong>Results: </strong>Significant associations between CVD and various immunophenotypes were observed in this study. Specifically, two phenotypes exhibited protective effects against CVD. The odds ratio (OR) for activated and secretory CD4⁺ regulatory T-cells (Tregs) was 0.757 [95% confidence interval (CI): 0.628-0.913; p = 0.004], whereas that for B-cell activating factor receptor on IgD^-CD38⁺ memory B-cells was 0.654 (95% CI: 0.468-0.915; p = 0.013). Conversely, three major immunophenotypes were linked to heightened risks of CVD: CD80 on myeloid dendritic cells (OR: 1.181; 95% CI: 1.015-1.376; p = 0.032), the proportion of CD28⁺ CD45RA⁺ CD8⁺ T-cells in total T-cell population (OR: 1.064; 95% CI: 1.002-1.128; p = 0.041), and the proportion of CD28^-CD45RA⁺ CD8⁺ T-cells in total T-cell population (OR: 1.005; 95% CI: 1.000-1.011; p = 0.045).</p><p><strong>Conclusion: </strong>This study underscores significant correlations between specific immune phenotypes and the risks associated with CVD onset, thus providing valuable perspectives for forthcoming clinical inquiries.</p>","PeriodicalId":30457,"journal":{"name":"JRSM Cardiovascular Disease","volume":"13 ","pages":"20480040241271777"},"PeriodicalIF":1.4,"publicationDate":"2024-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11320407/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141976814","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Associations of variability in body mass index with cardiovascular outcomes in the general population: A systematic review.","authors":"Mohammad Ali Esfandiari, Kimia Kazemzadeh, Akram Ansari, Goharsharieh Alishiri, Shaghayegh Afshari, Sepand Daliri, Mohammadreza Saleh, Sahar Balanian, Rozhina Tamannaeifar, Alireza Niazi, Fatemeh Vosoughian, Amir Abdi, Mahnaz Bakhshi Mohebbi, Reza Shah Hosseini, Elaheh Foroughi, Niloofar Deravi, Melika Arab Bafrani, Hassan Asadigandomani","doi":"10.1177/20480040241234149","DOIUrl":"10.1177/20480040241234149","url":null,"abstract":"<p><p>In today's world, high variability of body mass index (BMI) is known as a significant global health problem that can lead to many negative impacts on the cardiovascular system, including atrial fibrillation (AF) and coronary heart disease. The current systematic review aims to elucidate the effect of variability in BMI on the risk of cardiovascular outcomes. Four databases, including PubMed, Scopus, MEDLINE, and CENTRAL, were searched. All related articles up to 10 June 2022, were obtained. Titles, abstracts, and full texts were reviewed. After screening abstracts and full texts, four articles were included in our study. In these four cohort studies, 7,038,873 participants from the USA and South Korea were involved. These articles generally considered the BMI and outcomes including cardiovascular disease, AF, and coronary heart disease. All these articles reported an association between the variability of BMI and increased risk of cardiovascular outcomes. Due to the negative impact of the high variability of BMI on the risk of cardiovascular outcomes, health policymakers and practitioners should pay more attention to the significant role of BMI in health problems and physicians might better check the variability of BMI visits to visit.</p>","PeriodicalId":30457,"journal":{"name":"JRSM Cardiovascular Disease","volume":"13 ","pages":"20480040241234149"},"PeriodicalIF":1.6,"publicationDate":"2024-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11077937/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140891748","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Acute left anterior descending artery occlusion after IVUS leading to urgent percutaneous coronary intervention complicated with coronary perforation: Case report.","authors":"Kevin Velarde-Acosta, Josh Yefry Moscoso Ramirez, Paol Rojas, Roberto Baltodano-Arellano","doi":"10.1177/20480040241248924","DOIUrl":"10.1177/20480040241248924","url":null,"abstract":"<p><strong>Background: </strong>Intravascular ultrasonography (IVUS) has become an important complementary tool in interventional cardiology, both for preprocedural planning and for optimizing the performance of percutaneous coronary intervention (PCI). However, this tool is not free of potential complications, because of that it is essential to be aware of them and their management. Over time, new uses of IVUS have emerged, and it is currently a potential tool for predicting the risk of coronary perforation.</p><p><strong>Case report: </strong>We present the clinical case of a 51-year-old male patient who was admitted in the context of post-infarction angina. During coronary angiography, the patient presented with two acute complications, one of them associated with IVUS and the other associated with severe coronary calcification that predisposed to coronary perforation. Both complications were successfully treated.</p><p><strong>Conclusion: </strong>IVUS, although a very useful imaging tool before and during PCI, is not without risk. The overall rate of complications with certain or possible relation to IVUS is 3.9%. Vascular spasm is the most frequent complication and acute vascular occlusion, with the need for emergency coronary artery by-pass grafting, the least frequent. On the other hand, IVUS can predict the risk of developing other complications, such as coronary perforation, by means of the C-CAT sign. Knowledge of the possible complications during PCI and the rapid procedure of the hemodynamic team allows adequate management of these potentially fatal complications.</p>","PeriodicalId":30457,"journal":{"name":"JRSM Cardiovascular Disease","volume":"13 ","pages":"20480040241248924"},"PeriodicalIF":1.6,"publicationDate":"2024-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11082483/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140912858","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pattern and determinants of health-related quality of life of adolescents with congenital heart disease in Cameroon: A single-center cross-sectional study.","authors":"Félicité Kamdem, Jerrold Meyanga Ngoah, Chris Nadège Nganou Gnindjio, Jerson Mekoulou Ndongo, Hamadou Ba, Sidick Mouliom, Lade Viché, Henri Ngoté, Caroline Kenmegne, Hermann Tsague Kengni, Marie Solange Ndom Ebongue, Siddikatou Djibrilla, Elysée Claude Bika Léle","doi":"10.1177/20480040241247396","DOIUrl":"https://doi.org/10.1177/20480040241247396","url":null,"abstract":"<p><strong>Background: </strong>Health-related quality of life (HRQoL) assessment is necessary for the management of patients with congenital heart diseases (CHD). No study has yet been reported on Cameroonian adolescents. The aim of this study was to evaluate the profile of and look for determinants of HRQoL in adolescents with CHD in Cameroon.</p><p><strong>Methods: </strong>This was a cross-sectional study with prospective recruitment carried out on 71 adolescents diagnosed with CHD aged 12 to 18 years and recruited at the Douala General Hospital. Sociodemographic and clinical data were collected using a structured questionnaire. HRQoL was assessed using the pediatric quality of life inventory (PedsQL4.0) for child and parent reports. Multivariate linear regression was used to assess the determinants of HRQoL. Differences were considered significant for <i>p</i> < 0.05.</p><p><strong>Results: </strong>Mean age of participants was 15 ± 2 years with 54.9% women. Mean physical and psychosocial functioning scores were 50.7 ± 13.9 and 60.5 ± 9.6 for parent report and 49.5 ± 13.4 and 59.1 ± 9.1 for child report respectively; with no significant difference according to gender. Distribution of functioning scores according to anatomical complexity showed no significant difference while it was lower in patients with a greater physiological severity and to those with no surgical intervention compared to the others. After multivariate adjustments, physiological stage 3 or 4 was negatively associated while cardiac intervention was positively associated with HRQoL.</p><p><strong>Conclusion: </strong>CHD adolescents exhibit a low level of quality of life. Cardiac intervention positively affects HRQoL and should be targeted in the reduction of HRQoL burden from CHD in Cameroon.</p>","PeriodicalId":30457,"journal":{"name":"JRSM Cardiovascular Disease","volume":"13 ","pages":"20480040241247396"},"PeriodicalIF":1.6,"publicationDate":"2024-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11025313/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140865914","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The impact of baseline dietary fatty acid intake on the association between lipoprotein(a) and mortality in two US cohorts.","authors":"Nimai Patel, Chaitanya Chennareddy, Eric J Brandt","doi":"10.1177/20480040241247394","DOIUrl":"https://doi.org/10.1177/20480040241247394","url":null,"abstract":"<p><strong>Background: </strong>Lipoprotein(a) (Lp(a)) is an established casual risk factor for atherosclerotic cardiovascular disease. It remains unknown whether dietary fat modifies the association of Lp(a) with cardiovascular death.</p><p><strong>Aim: </strong>To understand if dietary fat modifies the association between Lp(a) and cardiovascular death.</p><p><strong>Methods: </strong>We utilized the Atherosclerotic Risk in Communities (ARIC) study and National Health and Nutrition Examination Survey (NHANES) III cohorts and used multivariate cox proportional hazard modeling to test the association between Lp(a), dietary fats, and cardiovascular death.</p><p><strong>Results: </strong>The sample (<i>n</i> = 22,805) had average age 51.3 years and was mostly female (55.4%). Lp(a) ≥ 30 mg/dL was associated with CV death in both ARIC (1.36, <i>p</i> = 0.001) and NHANES (1.31, <i>p</i> = 0.03). In multivariate analysis, no categorical or individual fatty acids modified the association between Lp(a) and CV death.</p><p><strong>Conclusion: </strong>There was no evidence that baseline dietary fat intake modified the association between Lp(a) and CV death.</p>","PeriodicalId":30457,"journal":{"name":"JRSM Cardiovascular Disease","volume":"13 ","pages":"20480040241247394"},"PeriodicalIF":1.6,"publicationDate":"2024-04-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11008349/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140869469","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Advanced waveform analysis of the photoplethysmogram signal using complementary signal processing techniques for the extraction of biomarkers of cardiovascular function.","authors":"Aristide Jun Wen Mathieu, Miquel Serna Pascual, Peter H Charlton, Maria Volovaya, Jenny Venton, Philip J Aston, Manasi Nandi, Jordi Alastruey","doi":"10.1177/20480040231225384","DOIUrl":"10.1177/20480040231225384","url":null,"abstract":"<p><strong>Introduction: </strong>Photoplethysmogram signals from wearable devices typically measure heart rate and blood oxygen saturation, but contain a wealth of additional information about the cardiovascular system. In this study, we compared two signal-processing techniques: fiducial point analysis and Symmetric Projection Attractor Reconstruction, on their ability to extract new cardiovascular information from a photoplethysmogram signal. The aim was to identify fiducial point analysis and Symmetric Projection Attractor Reconstruction indices that could classify photoplethysmogram signals, according to age, sex and physical activity.</p><p><strong>Methods: </strong>Three datasets were used: an <i>in-silico</i> dataset of simulated photoplethysmogram waves for healthy male participants (25-75 years old); an <i>in-vivo</i> dataset containing 10-min photoplethysmogram recordings from 57 healthy subjects at rest (18-39 or > 70 years old; 53% female); and an <i>in-vivo</i> dataset containing photoplethysmogram recordings collected for 4 weeks from a single subject, in daily life. The best-performing indices from the <i>in-silico</i> study (5/48 fiducial point analysis and 6/49 Symmetric Projection Attractor Reconstruction) were applied to the <i>in-vivo</i> datasets.</p><p><strong>Results: </strong>Key fiducial point analysis and Symmetric Projection Attractor Reconstruction indices, which showed the greatest differences between groups, were found to be consistent across datasets. These indices were related to systolic augmentation, diastolic peak positioning and prominence, and waveform variability. Both fiducial point analysis and Symmetric Projection Attractor Reconstruction techniques provided indices that supported the classification of age and physical activity, but not sex.</p><p><strong>Conclusions: </strong>Both fiducial point analysis and Symmetric Projection Attractor Reconstruction techniques demonstrated utility in identifying cardiovascular differences between individuals and within an individual over time. Future research should investigate the potential utility of these techniques for extracting information on fitness and disease, to support healthcare-decision making.</p>","PeriodicalId":30457,"journal":{"name":"JRSM Cardiovascular Disease","volume":"13 ","pages":"20480040231225384"},"PeriodicalIF":1.6,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10838030/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139681616","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Electrocardiographic and genetic characteristics in first degree relatives of hypertrophic cardiomyopathy probands: A descriptive cross-sectional study from Vietnam.","authors":"Phong Dinh Phan, Viet Tuan Tran, Minh Nhat Pham, Anh Trung Mai, Dat Tuan An, Hung Manh Pham","doi":"10.1177/20480040231220100","DOIUrl":"10.1177/20480040231220100","url":null,"abstract":"<p><strong>Objectives: </strong>In order to study the phenotype-genotype relationship and to better understand the early consequences of the mutation, we would report the spectrum of electrocardiographic and genetic features in the relatives of hypertrophic cardiomyopathy (HCM) patients.</p><p><strong>Methods: </strong>Participants underwent a comprehensive clinical assessment, electrocardiography, standardized and echocardiography and genetic testing. In probands, next-generation sequencing was performed using the gene panel associated with HCM, while in relatives, Sanger sequencing was used to screen for mutations identified in their individual probands.</p><p><strong>Results: </strong>A total of 84 participants were included in this study. The interventricular septal and posterior wall thickness was highest in the G+/LVH+ group, followed by the G+/LVH- group, and was lowest in G-/LVH- group. Compared to the normal control group, the pathologic Q wave was statistically more prevalent in the G+/LVH- group. The prevalence of repolarization abnormalities and major abnormalities was highest in the G+/LVH+ group, followed by the G+/LVH- group, and lowest in G-/LVH- group.</p><p><strong>Conclusion: </strong>Our results suggested that sarcomere mutations have early consequences on myocardial biology. These findings suggest the possibility of implementing a mutation carrier detection model within families affected by HCM, where ECG could play a central role when combined with other relevant clinical factors. Longitudinal studies on a cohort of G+/LVH- patients are required.</p>","PeriodicalId":30457,"journal":{"name":"JRSM Cardiovascular Disease","volume":"13 ","pages":"20480040231220100"},"PeriodicalIF":1.6,"publicationDate":"2024-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10768582/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139378432","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}