Canadian Journal of Cardiology最新文献

筛选
英文 中文
First evidence of a HeartMate 3 driveline infection by Rhizopus arrhizus: a case report. HeartMate 3 传动轴感染 Rhizopus arrhizus 的首个证据:病例报告。
IF 5.8 2区 医学
Canadian Journal of Cardiology Pub Date : 2024-10-18 DOI: 10.1016/j.cjca.2024.10.013
Joaquín Vila-García, Irene Marco Clement, Isabel Dolores Poveda Pinedo, Belén Loeches Yagüe, Adrián Cid Menéndez, José Raúl Moreno Gómez
{"title":"First evidence of a HeartMate 3 driveline infection by Rhizopus arrhizus: a case report.","authors":"Joaquín Vila-García, Irene Marco Clement, Isabel Dolores Poveda Pinedo, Belén Loeches Yagüe, Adrián Cid Menéndez, José Raúl Moreno Gómez","doi":"10.1016/j.cjca.2024.10.013","DOIUrl":"https://doi.org/10.1016/j.cjca.2024.10.013","url":null,"abstract":"","PeriodicalId":9555,"journal":{"name":"Canadian Journal of Cardiology","volume":null,"pages":null},"PeriodicalIF":5.8,"publicationDate":"2024-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142458649","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
NDRG1 regulates iron metabolism and inhibits pathological cardiac hypertrophy. NDRG1 可调节铁代谢,抑制病理性心肌肥大。
IF 5.8 2区 医学
Canadian Journal of Cardiology Pub Date : 2024-10-18 DOI: 10.1016/j.cjca.2024.10.011
Jiali Yuan, Chengye Yin, Hong Peng, Guojian Fang, Binfeng Mo, Xiji Qin, Yuhan Chen, Zhengshuai Wang, Yichi Yu, Yuepeng Wang, Qunshan Wang
{"title":"NDRG1 regulates iron metabolism and inhibits pathological cardiac hypertrophy.","authors":"Jiali Yuan, Chengye Yin, Hong Peng, Guojian Fang, Binfeng Mo, Xiji Qin, Yuhan Chen, Zhengshuai Wang, Yichi Yu, Yuepeng Wang, Qunshan Wang","doi":"10.1016/j.cjca.2024.10.011","DOIUrl":"https://doi.org/10.1016/j.cjca.2024.10.011","url":null,"abstract":"<p><strong>Background: </strong>Cardiac pathological hypertrophy, a pathological physiological alteration in many cardiovascular diseases, can progress to heart failure. The cellular biology underlying myocardial hypertrophy remains to be fully elucidated. While NDRG1 has been reported to participate in cellular proliferation, differentiation, and cellular stress responses, its role in cardiac diseases remains unexplored. Here, we investigated the role of NDRG1 in pathological hypertrophy.</p><p><strong>Method: </strong>Cardiomyocyte-specific-NDRG1 knockout (KO) transgenic mice and NDRG1-AAV9 were used in mice. Angiotensin II (AngII) stimulation were applied to induce hypertrophy. Histological, molecular, and RNA-sequencing analyses were performed, and ferroptosis markers and iron levels were studied. We used co-IP and application of iron chelator to further studied the mechanisms of NDRG1 in cardiac hypertrophy.</p><p><strong>Results: </strong>We found that NDRG1 expression is decreased in pathological hypertrophy induced by AngII stimulation. Conditional knockout of NDRG1 in mouse cardiomyocytes led to progressive cardiac hypertrophy and heart failure. Cardiomyocyte-specific overexpression of NDRG1 via AAV9 significantly reversed AngII-induced ventricular hypertrophy and fibrosis. Mechanistically, NDRG1-deficient cardiomyocytes exhibited iron overload and increased ferroptosis, accompanied by elevated levels of reactive oxygen species (ROS) and lipid peroxidation. Subsequently, we confirmed the involvement of NDRG1 in regulating ferroptosis and iron metabolism in myocardial cells. Finally, we identified an interaction between NDRG1 and transferrin in cells. The iron chelator Dp44mT effectively reduced myocardial iron overload and ventricular remodeling induced by NDRG1 deficiency.</p><p><strong>Conclusion: </strong>These findings highlight NDRG1's critical role in iron metabolism and ferroptosis in cardiomyocytes, suggesting that NDRG1 or iron metabolism may serve as therapeutic targets for cardiac hypertrophy.</p>","PeriodicalId":9555,"journal":{"name":"Canadian Journal of Cardiology","volume":null,"pages":null},"PeriodicalIF":5.8,"publicationDate":"2024-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142458671","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Transfusion in Anemic Patients with Acute Coronary Syndromes: A Population-Based Cohort Study. 急性冠状动脉综合征贫血患者的输血:基于人群的队列研究。
IF 5.8 2区 医学
Canadian Journal of Cardiology Pub Date : 2024-10-18 DOI: 10.1016/j.cjca.2024.10.012
Nikhil Mistry, C David Mazer, Atul Sivaswamy, Olivia Haldenby, Peter C Austin, Maneesh Sud, Gregory M T Hare, Nadine Shehata, Karim S Ladha, Duminda N Wijeysundera, Subodh Verma, Dennis T Ko
{"title":"Transfusion in Anemic Patients with Acute Coronary Syndromes: A Population-Based Cohort Study.","authors":"Nikhil Mistry, C David Mazer, Atul Sivaswamy, Olivia Haldenby, Peter C Austin, Maneesh Sud, Gregory M T Hare, Nadine Shehata, Karim S Ladha, Duminda N Wijeysundera, Subodh Verma, Dennis T Ko","doi":"10.1016/j.cjca.2024.10.012","DOIUrl":"https://doi.org/10.1016/j.cjca.2024.10.012","url":null,"abstract":"<p><strong>Background: </strong>There is controversy surrounding the effectiveness of red blood cell (RBC) transfusion for treating anemia in patients hospitalized for acute coronary syndromes (ACS), particularly as hemoglobin levels (Hb) approach and drop below the range of moderate anemia.</p><p><strong>Methods: </strong>This population-based cohort study followed all adults hospitalized for ACS who experienced an in-hospital nadir Hb between 6.0-8.9g/dL between April 1, 2012 to March 31, 2021 in Ontario, Canada. Patients were excluded if they underwent coronary artery bypass graft surgery or had history of dementia, palliative care, or long-term care. Transfused patients were compared to non-transfused patients. The primary outcome was a composite of all-cause death and hospitalization for myocardial infarction (MI) within 30-days of hospital discharge. Overlap propensity score weighting was used to account for confounding and to emphasize the comparison in patients for whom there is clinical equipoise.</p><p><strong>Results: </strong>This study included 7,922 patients, of whom 3,498 were transfused and 4,424 were not transfused. In the propensity weighted cohort, the mean nadir Hb for each group was 7.75g/dL. The 30-day cumulative incidence rate for the primary outcome after application of propensity score weights was 28.6% in the transfusion group and 33.3% in the no-transfusion group (hazard ratio [HR]: 0.83, 95% confidence interval [CI] 0.75-0.91), which persisted at 1-year after hospital discharge and across sensitivity analyses.</p><p><strong>Conclusions: </strong>In patients hospitalized for ACS who experience nadir Hb levels between 6.0-8.9g/dL, RBC transfusion was associated with a reduction in the composite event of all-cause death and hospitalization for MI within 30-days after hospital discharge.</p>","PeriodicalId":9555,"journal":{"name":"Canadian Journal of Cardiology","volume":null,"pages":null},"PeriodicalIF":5.8,"publicationDate":"2024-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142458676","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Prevalence of cardiac amyloidosis among elderly patients with recent-onset atrial fibrillation. The PREVAL-ATTR study. 近期发生心房颤动的老年患者中心脏淀粉样变性的患病率。PREVAL-ATTR 研究。
IF 5.8 2区 医学
Canadian Journal of Cardiology Pub Date : 2024-10-16 DOI: 10.1016/j.cjca.2024.10.010
Paloma Remior-Pérez, Miriam Gómez-Molina, Daniel García-Rodríguez, María Gallego-Delgado, Laroussi Mohamed-Salem, Javier de Haro-Del Moral, Fernando Hernández-Terciado, Daniel de Castro, Rocio Eiros-Bachiller, Fernando Dominguez, Esther Gonzalez-Lopez, Eduardo Villacorta, Domingo A Pascual-Figal, Pablo Garcia-Pavia
{"title":"Prevalence of cardiac amyloidosis among elderly patients with recent-onset atrial fibrillation. The PREVAL-ATTR study.","authors":"Paloma Remior-Pérez, Miriam Gómez-Molina, Daniel García-Rodríguez, María Gallego-Delgado, Laroussi Mohamed-Salem, Javier de Haro-Del Moral, Fernando Hernández-Terciado, Daniel de Castro, Rocio Eiros-Bachiller, Fernando Dominguez, Esther Gonzalez-Lopez, Eduardo Villacorta, Domingo A Pascual-Figal, Pablo Garcia-Pavia","doi":"10.1016/j.cjca.2024.10.010","DOIUrl":"https://doi.org/10.1016/j.cjca.2024.10.010","url":null,"abstract":"<p><strong>Background: </strong>Transthyretin cardiac amyloidosis (ATTR-CA) is increasingly recognized as a treatable form of heart failure. Atrial fibrillation (AF) is common in patients with ATTR-CA. Whether recent-onset AF can be used as an early marker to identify patients with ATTR-CA has not been elucidated.</p><p><strong>Methods: </strong>This was a prospective study conducted at 3 Spanish centers. ATTR-CA noninvasive screening was offered to patients ≥65 years old recently diagnosed (<1 year) with non-valvular AF and who had ≥1 echocardiographic, electrocardiographic or clinical sign suggestive of ATTR-CA.</p><p><strong>Results: </strong>A total of 121 patients were included (75% male, mean age 77±7 years). Ten patients (8.3%, 95%CI:4-14.7%), were diagnosed with cardiac amyloidosis (CA): 5 with definite wild-type ATTR-CA (ATTRwt), 4 with likely ATTRwt and one with undetermined CA. Compared to patients without CA, patients with CA were older (84±4 vs. 76±7 years;p<0.001), more frequently men (90% vs. 59%; p=0.047), presented higher median NTproBNP (3800 pg/L, IQR:1682-6101 vs. 1048 pg/mL, IQR:427-3154;p=0.017) and higher left ventricular hypertrophy (LVH) (14 mm, IQR:13-17 vs. 12 mm, IQR:12-13;p=0.003). Patients with CA also showed higher rate of permanent AF (90% vs. 49.5%;p=0.018) and a greater need for pacemaker implantation during follow-up (30% vs. 7.3%;p=0.049). No differences in mortality were observed between patients with and without CA after a median follow-up of 13 months (IQR:11-16 months).</p><p><strong>Conclusions: </strong>Routine DPD scanning in elderly patients with recent-onset AF, LVH and an additional red flag may help to identify patients with ATTR-CA. However, larger studies evaluating this strategy in more diverse clinical settings would be required.</p>","PeriodicalId":9555,"journal":{"name":"Canadian Journal of Cardiology","volume":null,"pages":null},"PeriodicalIF":5.8,"publicationDate":"2024-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142458673","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Global Cost-Effectiveness of Transcatheter vs. Surgical Aortic Valve Replacement in Severe Aortic Stenosis: A Systematic Review and Meta-Analysis. 经导管主动脉瓣置换术与外科主动脉瓣置换术治疗重度主动脉瓣狭窄的全球成本效益:系统回顾与元分析》。
IF 5.8 2区 医学
Canadian Journal of Cardiology Pub Date : 2024-10-15 DOI: 10.1016/j.cjca.2024.10.009
Xinyan Zhou, Xirui Duan, Lishi Shao, Na Tan, Shuaiyan Zuo, Haiyan Shan, Guocheng Li, Xiaolan Du, Ujen Duwal Shrestha, Tengfei Ke, Feifei Zhou, Han Ma, Yiming Xu, Zhiqiang Ouyang, Chengde Liao
{"title":"Global Cost-Effectiveness of Transcatheter vs. Surgical Aortic Valve Replacement in Severe Aortic Stenosis: A Systematic Review and Meta-Analysis.","authors":"Xinyan Zhou, Xirui Duan, Lishi Shao, Na Tan, Shuaiyan Zuo, Haiyan Shan, Guocheng Li, Xiaolan Du, Ujen Duwal Shrestha, Tengfei Ke, Feifei Zhou, Han Ma, Yiming Xu, Zhiqiang Ouyang, Chengde Liao","doi":"10.1016/j.cjca.2024.10.009","DOIUrl":"https://doi.org/10.1016/j.cjca.2024.10.009","url":null,"abstract":"<p><strong>Backgroud: </strong>Transcatheter aortic valve replacement (TAVR) is a less invasive treatment option for patients with severe aortic stenosis (AS); however, its economic benefits in patients with low to intermediate surgical risk remain controversial and vary by country. We conducted a systematic review to compare the economic benefits of TAVR versus surgical aortic valve replacement (SAVR).</p><p><strong>Methods: </strong>We searched six databases, including PubMed, Medline, Scopus, Web of Science, Embase, and Clinical Trials for randomized controlled trials on the economic benefits of TAVR with different valve types and SAVR in symptomatic AS patients with low to intermediate surgical risk, from inception to October 2023. We extracted data on quality-adjusted life years (QALYs), and incremental cost-effectiveness ratio (ICER), with ICER converted to 2023 United States dollars (USD) exchange rates.</p><p><strong>Results: </strong>Fifteen studies met the inclusion criteria, with the overall quality ranging from intermediate to high. Among these, TAVR was found to be cost-effective in 14 studies, while in one study conducted in a developing country, TAVR was not cost-effective. When adjusted to 2023 USD, the ICER values ranged from $3,669 to $340,038 per QALY gained.</p><p><strong>Conclusion: </strong>TAVR appears to be a cost-effective alternative to SAVR in patients with low to intermediate AS. In all studies, TAVR was associated with a significant increase in QALYs compared to SAVR. As it is an expensive procedure, the cost-effectiveness of TAVR depends on each country's ICER and willingness-to-pay threshold.</p>","PeriodicalId":9555,"journal":{"name":"Canadian Journal of Cardiology","volume":null,"pages":null},"PeriodicalIF":5.8,"publicationDate":"2024-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142458670","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Balancing Pathophysiology and Practicality in Our Approach to MINOCA. 平衡病理生理学与 MINOCA 的实用性 - 对致函编辑的回复。
IF 5.8 2区 医学
Canadian Journal of Cardiology Pub Date : 2024-10-12 DOI: 10.1016/j.cjca.2024.09.035
Christine Pacheco, Thais Coutinho
{"title":"Balancing Pathophysiology and Practicality in Our Approach to MINOCA.","authors":"Christine Pacheco, Thais Coutinho","doi":"10.1016/j.cjca.2024.09.035","DOIUrl":"10.1016/j.cjca.2024.09.035","url":null,"abstract":"","PeriodicalId":9555,"journal":{"name":"Canadian Journal of Cardiology","volume":null,"pages":null},"PeriodicalIF":5.8,"publicationDate":"2024-10-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142458645","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Sealing the Deal: Optimal Strategy for Transcatheter Aortic Valve Replacement Access Closure. 密封交易:经导管主动脉瓣置换术入路关闭的最佳策略。
IF 5.8 2区 医学
Canadian Journal of Cardiology Pub Date : 2024-10-12 DOI: 10.1016/j.cjca.2024.10.007
Jeremy Ben-Shoshan, Lior Lupu
{"title":"Sealing the Deal: Optimal Strategy for Transcatheter Aortic Valve Replacement Access Closure.","authors":"Jeremy Ben-Shoshan, Lior Lupu","doi":"10.1016/j.cjca.2024.10.007","DOIUrl":"10.1016/j.cjca.2024.10.007","url":null,"abstract":"","PeriodicalId":9555,"journal":{"name":"Canadian Journal of Cardiology","volume":null,"pages":null},"PeriodicalIF":5.8,"publicationDate":"2024-10-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142458674","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A Decade Later: Unveiling Long-Term Coronary Artery Healing with Optical Coherence Tomography Following Bioresorbable-Scaffold Implantation. 十年之后:利用光学相干断层扫描揭示生物可吸收支架植入术后冠状动脉的长期愈合。
IF 5.8 2区 医学
Canadian Journal of Cardiology Pub Date : 2024-10-12 DOI: 10.1016/j.cjca.2024.09.034
Borja Rivero-Santana, Santiago Jiménez-Valero, Alfonso Jurado-Román, Guillermo Galeote, Ariana Gonzálvez, María Fernández-Velasco, Raúl Moreno
{"title":"A Decade Later: Unveiling Long-Term Coronary Artery Healing with Optical Coherence Tomography Following Bioresorbable-Scaffold Implantation.","authors":"Borja Rivero-Santana, Santiago Jiménez-Valero, Alfonso Jurado-Román, Guillermo Galeote, Ariana Gonzálvez, María Fernández-Velasco, Raúl Moreno","doi":"10.1016/j.cjca.2024.09.034","DOIUrl":"10.1016/j.cjca.2024.09.034","url":null,"abstract":"","PeriodicalId":9555,"journal":{"name":"Canadian Journal of Cardiology","volume":null,"pages":null},"PeriodicalIF":5.8,"publicationDate":"2024-10-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142458644","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Challenges in the evaluation of aortic stenosis: A guide to multimodal imaging. 评估主动脉瓣狭窄的挑战:多模态成像指南。
IF 5.8 2区 医学
Canadian Journal of Cardiology Pub Date : 2024-10-11 DOI: 10.1016/j.cjca.2024.10.008
Michael-Roy Durr, Ian G Burwash, Anahita Tavoosi, Graeme Prosperi-Porta, Nicolas Santi, Rudy R Unni, Maria Agustina Lopez Laporte, Arjun N Sharma, Alwaleed Aljamaan, Ian D Paterson, Kwan Chan, Luc Beauchesne, Andrew Mulloy, Hassan Alfraidi, Lawrence Lau, Michael Froeschl, David Messika-Zeitoun
{"title":"Challenges in the evaluation of aortic stenosis: A guide to multimodal imaging.","authors":"Michael-Roy Durr, Ian G Burwash, Anahita Tavoosi, Graeme Prosperi-Porta, Nicolas Santi, Rudy R Unni, Maria Agustina Lopez Laporte, Arjun N Sharma, Alwaleed Aljamaan, Ian D Paterson, Kwan Chan, Luc Beauchesne, Andrew Mulloy, Hassan Alfraidi, Lawrence Lau, Michael Froeschl, David Messika-Zeitoun","doi":"10.1016/j.cjca.2024.10.008","DOIUrl":"https://doi.org/10.1016/j.cjca.2024.10.008","url":null,"abstract":"<p><p>Severe Aortic stenosis (AS) is characterised by a late peaking crescendo-decrescendo systolic murmur and a diminished/absent second heart sound. Echocardiographic assessment of AS severity, based on transvalvular velocities / pressure gradients and calculated aortic valve area (AVA), confirms the diagnosis and allows timely intervention. Nevertheless, diagnostic uncertainty exists in cases of discordant measurements, confounders, and symptoms-measurement discrepancies. This guide outlines an approach to the use of multimodal imaging in the diagnosis and staging of AS.</p>","PeriodicalId":9555,"journal":{"name":"Canadian Journal of Cardiology","volume":null,"pages":null},"PeriodicalIF":5.8,"publicationDate":"2024-10-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142458647","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Clinical and genetic profile of Chinese children with Danon disease: A single-center retrospective cohort study. 中国达农病患儿的临床和遗传特征:单中心回顾性队列研究。
IF 5.8 2区 医学
Canadian Journal of Cardiology Pub Date : 2024-10-11 DOI: 10.1016/j.cjca.2024.10.005
Qingni Zhang, Wenxiu Chan, Yiwei Chen, Jinjin Wu, Hao Chen, Tingting Yu, Ruen Yao, Lijun Chen, Bing Zhang, Hao Zhang, Zhen Zhang, Lijun Fu
{"title":"Clinical and genetic profile of Chinese children with Danon disease: A single-center retrospective cohort study.","authors":"Qingni Zhang, Wenxiu Chan, Yiwei Chen, Jinjin Wu, Hao Chen, Tingting Yu, Ruen Yao, Lijun Chen, Bing Zhang, Hao Zhang, Zhen Zhang, Lijun Fu","doi":"10.1016/j.cjca.2024.10.005","DOIUrl":"https://doi.org/10.1016/j.cjca.2024.10.005","url":null,"abstract":"<p><strong>Background: </strong>Danon disease (DD) is a rare X-linked dominant lysosomal storage disorder. Studies on DD pediatric patients are limited due to the small number of cases and challenges in early detection.</p><p><strong>Methods: </strong>We retrospectively analyzed clinical and genetic data of 29 pediatric patients who visited our hospital for treatment or genetic counseling of DD from July 2014 to December 2023.</p><p><strong>Results: </strong>The mean age at diagnosis was 7.2±5.9 years for males (n=21) and 9.4±5.0 years for females (n=8). Asymptomatic elevated liver aminotransferase and/or creatine kinase (CK) levels were initial manifestations detected in 10 (48%) male patients and absent in female patients. Hypertrophic cardiomyopathy (HCM) was observed in 20 (95%) male and 7 (88%) female patients, while dilated cardiomyopathy (DCM) was not detected. Ventricular preexcitation (VP) was observed initially in 10 (36%) patients and in 15 (54%) at latest evaluation. Patients with VP had higher left ventricular posterior wall thickness in diastole z-scores than those without VP (5.6±2.2 vs. 3.5±2.1, p=0.029). During a median 2.7-years follow-up, two males received heart transplants. One boy and one girl died of heart failure and sudden cardiac arrest, respectively. Twenty-three pathogenic LAMP2 variants were identified, including seven novel variants.</p><p><strong>Conclusions: </strong>A retrospective review of 29 DD cases suggests an underrecognized asymptomatic period in male DD patients, characterized by elevations in serum CK and transaminases. HCM appears to be the only cardiac manifestation in pediatric female patients, unlike a high incidence of DCM in adult female patients. The incidence of VP may increase with disease progression.</p>","PeriodicalId":9555,"journal":{"name":"Canadian Journal of Cardiology","volume":null,"pages":null},"PeriodicalIF":5.8,"publicationDate":"2024-10-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142458648","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信