Cardiogenetics最新文献_第4页

Clinical and Molecular Characteristics of Patients with PLN R14del Cardiomyopathy: State-of-the-Art Review PLN R14del型心肌病患者的临床和分子特征:最新进展综述

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Cardiogenetics Pub Date : 2022-03-02 DOI: 10.3390/cardiogenetics12010012

E. Monda, E. Blasi, A. De Pasquale, A. Di Vilio, Federica Amodio, M. Caiazza, Gaetano Diana, M. Lioncino, A. Perna, F. Verrillo, M. Martucci, Orlando Munciguerra, A. Vergara, G. Limongelli

{"title":"Clinical and Molecular Characteristics of Patients with PLN R14del Cardiomyopathy: State-of-the-Art Review","authors":"E. Monda, E. Blasi, A. De Pasquale, A. Di Vilio, Federica Amodio, M. Caiazza, Gaetano Diana, M. Lioncino, A. Perna, F. Verrillo, M. Martucci, Orlando Munciguerra, A. Vergara, G. Limongelli","doi":"10.3390/cardiogenetics12010012","DOIUrl":"https://doi.org/10.3390/cardiogenetics12010012","url":null,"abstract":"The deletion of the arginine 14 codon (R14del) in the phospholamban (PLN) gene is a rare cause of arrhythmogenic cardiomyopathy (ACM) and is associated with prevalent ventricular arrhythmias, heart failure, and sudden cardiac death. The pathophysiological mechanism which culminates in the ACM phenotype is multifactorial and mainly based on the alteration of the endoplasmic reticulum proteostasis, mitochondrial dysfunction and compromised Ca2+ cytosolic homeostasis. The symptoms of this condition are usually non-specific and consist of arrhythmia-related or heart failure-related manifestation; however, some peculiar diagnostic clues were detected, such as the T-wave inversion in the lateral leads, low QRS complexes voltages, mid-wall or epicardial fibrosis of the inferolateral wall of the left ventricle, and their presence should raise the suspicion of this condition. The risk stratification for sudden cardiac death is mandatory and several predictors were identified in recent years. However, the management of affected patients is often challenging due to the absence of specific prediction tools and therapies. This review aims to provide the current state of the art of PLN R14del cardiomyopathy, focusing on its pathophysiology, clinical manifestation, risk stratification for sudden cardiac death, and management.","PeriodicalId":41330,"journal":{"name":"Cardiogenetics","volume":" ","pages":""},"PeriodicalIF":0.6,"publicationDate":"2022-03-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48812930","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Cardiovascular Characteristics of Patients with Genetic Variation in Desmoplakin (DSP). Desmoplakin (DSP)遗传变异患者的心血管特征。

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Cardiogenetics Pub Date : 2022-03-01 Epub Date: 2022-01-06 DOI: 10.3390/cardiogenetics12010003

Nosheen Reza, Alejandro de Feria, Jessica L Chowns, Lily Hoffman-Andrews, Laura Vann, Jessica Kim, Amy Marzolf, Anjali Tiku Owens

{"title":"Cardiovascular Characteristics of Patients with Genetic Variation in Desmoplakin (DSP).","authors":"Nosheen Reza, Alejandro de Feria, Jessica L Chowns, Lily Hoffman-Andrews, Laura Vann, Jessica Kim, Amy Marzolf, Anjali Tiku Owens","doi":"10.3390/cardiogenetics12010003","DOIUrl":"https://doi.org/10.3390/cardiogenetics12010003","url":null,"abstract":"Background: Variants in the desmoplakin (DSP) gene have been recognized in association with the pathogenesis of arrhythmogenic right ventricular cardiomyopathy (ARVC) for nearly 20 years. More recently, genetic variation in DSP has also been associated with left-dominant arrhythmogenic cardiomyopathy. Data regarding the cardiac phenotypes associated with genetic variation in DSP have been largely accumulated from phenotype-first studies of ARVC.Methods: We aimed to evaluate the clinical manifestations of cardiac disease associated with variants in DSP through a genotype-first approach employed in the University of Pennsylvania Center for Inherited Cardiovascular Disease registry. We performed a retrospective study of 19 individuals with \"pathogenic\" or \"likely pathogenic\" variants in DSP identified by clinical genetic testing. Demographics and clinical characteristics were collected.Results: Among individuals with disease-causing variants in DSP, nearly 40% had left ventricular enlargement at initial assessment. Malignant arrhythmias were prevalent in this cohort (42%) with a high proportion of individuals undergoing primary and secondary prevention implantable cardioverter defibrillator implantation (68%) and ablation of ventricular arrhythmias (16%). Probands also experienced end-stage heart failure requiring heart transplantation (11%).Conclusions: Our data suggest DSP cardiomyopathy may manifest with a high burden of heart failure and arrhythmic events, highlighting its importance in the pathogenesis of dilated and arrhythmogenic cardiomyopathies. Targeted strategies for diagnosis and risk stratification for DSP cardiomyopathy should be investigated.","PeriodicalId":41330,"journal":{"name":"Cardiogenetics","volume":"12 1","pages":"24-36"},"PeriodicalIF":0.6,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8785953/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39963936","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}

引用次数: 4

Publisher’s Note: We Changed Page Numbers to Article Numbers for Articles Published in Cardiogenetics Volume 1–Volume 10, Issue 1 出版商注意：我们将《心脏遗传学》第1卷-第10卷第1期文章的页码更改为文章编号

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Cardiogenetics Pub Date : 2022-02-25 DOI: 10.3390/cardiogenetics12010011

引用次数: 0

Diagnosis of Fabry Disease in a Patient with a Surgically Repaired Congenital Heart Defect: When Clinical History and Genetics Make the Difference 法布里病的诊断患者手术修复先天性心脏缺陷:当临床病史和遗传学的差异

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Cardiogenetics Pub Date : 2022-02-25 DOI: 10.3390/cardiogenetics12010010

M. Rubino, E. Monda, M. Caiazza, G. Palmiero, M. Lioncino, A. Cirillo, A. Fusco, F. Verrillo, A. Perna, Gaetano Diana, Federica Amodio, A. Cesaro, G. Duro, B. Sarubbi, M. Russo, P. Calabrò, G. Limongelli

{"title":"Diagnosis of Fabry Disease in a Patient with a Surgically Repaired Congenital Heart Defect: When Clinical History and Genetics Make the Difference","authors":"M. Rubino, E. Monda, M. Caiazza, G. Palmiero, M. Lioncino, A. Cirillo, A. Fusco, F. Verrillo, A. Perna, Gaetano Diana, Federica Amodio, A. Cesaro, G. Duro, B. Sarubbi, M. Russo, P. Calabrò, G. Limongelli","doi":"10.3390/cardiogenetics12010010","DOIUrl":"https://doi.org/10.3390/cardiogenetics12010010","url":null,"abstract":"Fabry disease (FD) is a multiorgan disease, which can potentially affect any organ or tissue, with the heart, kidneys, and central nervous system representing the major disease targets. FD can be suspected based on the presence of specific red flags, and the subsequent evaluation of the α-Gal A activity and GLA sequencing, are required to confirm the diagnosis, to evaluate the presence of amenable GLA mutation, and to perform a cascade program screening in family members. An early diagnosis is required to start an etiological treatment and to prevent irreversible organ damage. Here, we describe a case of a 37-years-old patient, with a surgically repaired congenital heart defect in his childhood, who had a late diagnosis of FD based on the clinical history and targeted genetic evaluation. This case highlights the importance to perform a correct phenotyping and definite diagnosis of FD, to start an early and appropriate treatment in the index patient, and a cascade clinical and genetic screening to identify other family members at risk, which may benefit from specific treatment and/or a close follow-up.","PeriodicalId":41330,"journal":{"name":"Cardiogenetics","volume":" ","pages":""},"PeriodicalIF":0.6,"publicationDate":"2022-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47829803","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

Genetic Diagnostics Contribute to the Risk Stratification for Major Arrhythmic Events in Pediatric Patients with Long QT Syndrome Type 1–3 遗传诊断有助于长QT综合征1-3型儿童患者主要心律失常事件的风险分层

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Cardiogenetics Pub Date : 2022-02-21 DOI: 10.3390/cardiogenetics12010009

T. Burkard, D. Westphal, F. Markel, R. Gebauer, G. Hessling, C. Wolf

{"title":"Genetic Diagnostics Contribute to the Risk Stratification for Major Arrhythmic Events in Pediatric Patients with Long QT Syndrome Type 1–3","authors":"T. Burkard, D. Westphal, F. Markel, R. Gebauer, G. Hessling, C. Wolf","doi":"10.3390/cardiogenetics12010009","DOIUrl":"https://doi.org/10.3390/cardiogenetics12010009","url":null,"abstract":"Long QT syndrome (LQTS) is an inherited arrhythmic disorder associated with sudden cardiac death (SCD). This study aimed to identify the clinical and molecular genetic risk factors that contribute to major arrhythmic events (MAEs) in patients with genetically confirmed childhood onset LQTS 1–3. This study was a retrospective double-center study. An MAE was defined as the occurrence of SCD, aborted SCD, appropriate implantable cardioverter defibrillator discharge, or sustained ventricular tachycardia. During a median follow-up of 4.6 years (range 0.1–24.3 years), MAEs occurred in 18 (17.8%) of 101 patients diagnosed with LQTS at a median of 7.7 years (range 0.0–18.0 years) despite the use of beta-blockers in 91.6% of patients at the last follow-up. A multivariate analysis identified a genetic diagnosis of LQTS2 and LQTS3 and variants within the KCNH2 S5-loop-S6 pore region as independent risk factors for MAEs, independent of the QTc value or a history of syncope detected from a univariate analysis. MAEs occur frequently in childhood onset LQTS despite beta-blocker treatment. A detailed molecular genetic diagnosis can contribute to the arrhythmia risk stratification and optimize the use of preventive measures in this vulnerable patient population.","PeriodicalId":41330,"journal":{"name":"Cardiogenetics","volume":" ","pages":""},"PeriodicalIF":0.6,"publicationDate":"2022-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45951547","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Acknowledgment to Reviewers of Cardiogenetics in 2021 2021年心脏遗传学综述

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Cardiogenetics Pub Date : 2022-02-17 DOI: 10.3390/cardiogenetics12010008

引用次数: 0

Pharmacogenomics of Pediatric Cardiac Arrest: Cisplatin Treatment Worsened by a Ryanodine Receptor 2 Gene Mutation 儿童心脏骤停的药物基因组学:顺铂治疗因Ryanodine受体2基因突变而恶化

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Cardiogenetics Pub Date : 2022-02-07 DOI: 10.3390/cardiogenetics12010007

A. Maggio, S. Mastroianno, G. Di Stolfo, S. Castellana, P. Palumbo, M. Leone, A. Spirito, D. Potenza, S. Ladogana, M. Castori, M. Carella, M. Villella, M. Salvatori

{"title":"Pharmacogenomics of Pediatric Cardiac Arrest: Cisplatin Treatment Worsened by a Ryanodine Receptor 2 Gene Mutation","authors":"A. Maggio, S. Mastroianno, G. Di Stolfo, S. Castellana, P. Palumbo, M. Leone, A. Spirito, D. Potenza, S. Ladogana, M. Castori, M. Carella, M. Villella, M. Salvatori","doi":"10.3390/cardiogenetics12010007","DOIUrl":"https://doi.org/10.3390/cardiogenetics12010007","url":null,"abstract":"In thelast few decades, the roles of cardio-oncology and cardiovascular geneticsgained more and more attention in research and daily clinical practice, shaping a new clinical approach and management of patients affected by cancer and cardiovascular disease. Genetic characterization of patients undergoing cancer treatment can support a better cardiovascular risk stratification beyond the typical risk factors, suchas contractile function and QT interval duration, uncovering a possible patient’s concealed predisposition to heart failure, life threatening arrhythmias and sudden death. Specifically, an integrated cardiogenetic approach in daily oncological clinical practice can ensure the best patient-centered healthcare model, suggesting, also the adequate cardiac monitoring timing and alternative cancer treatments, reducing drug-related complications. We report the case of a 14-month-old girl affected by neuroblastoma, treated by cisplatin, complicated by cardiac arrest. We described the genetic characterization of a Ryanodine receptor 2 (RYR2) gene mutation and subsequent pharmacogenomic approach to better shape the cancer treatment.","PeriodicalId":41330,"journal":{"name":"Cardiogenetics","volume":" ","pages":""},"PeriodicalIF":0.6,"publicationDate":"2022-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45449382","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

Genetics of Heritable Thoracic Aortic Disease 遗传性胸主动脉疾病的遗传学

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Cardiogenetics Pub Date : 2022-02-04 DOI: 10.3390/cardiogenetics12010006

E. Papatheodorou, D. Degiannis, A. Anastasakis

引用次数: 4

The Roles of Platelet-Activating Factor and Magnesium in Pathophysiology of Hypertension, Atherogenesis, Cardiovascular Disease, Stroke and Aging 血小板活化因子和镁在高血压、动脉粥样硬化、心血管疾病、中风和衰老病理生理中的作用

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Cardiogenetics Pub Date : 2022-02-02 DOI: 10.3390/cardiogenetics12010005

N. Shah, Roshni Sethi, Sachin Shah, Komail Jafri, Jonah Duran, Yong Chang, Chirag V. Soni, Hanna Wollocko

{"title":"The Roles of Platelet-Activating Factor and Magnesium in Pathophysiology of Hypertension, Atherogenesis, Cardiovascular Disease, Stroke and Aging","authors":"N. Shah, Roshni Sethi, Sachin Shah, Komail Jafri, Jonah Duran, Yong Chang, Chirag V. Soni, Hanna Wollocko","doi":"10.3390/cardiogenetics12010005","DOIUrl":"https://doi.org/10.3390/cardiogenetics12010005","url":null,"abstract":"Hypertension and atherosclerosis are debilitating diseases that affect millions each year. Long-term consequences include but are not limited to stroke, myocardial infarction, and kidney failure. Platelet-activating factor (PAF) is a proinflammatory mediator synthesized from a subclass of phosphatidylcholines that increases platelet activation, leukocyte adhesion, infiltration of macrophages, and intracellular lipid accumulation, thereby contributing to atherosclerosis. Magnesium, a key micronutrient and free radical scavenger, is a water-soluble mineral that regulates peripheral vasodilation and calcium, phosphate, and hydroxyapatite homeostasis. Magnesium’s antihypertensive ability stems from its role as a natural calcium antagonist and promoter of vasodilatory mediators, such as nitric oxide. Platelet-activating factor and magnesium share an inverse relationship, and elevated magnesium levels have been shown to have protective effects against plaque formation as well as antihypertensive and antiarrhythmic effects, all of which allow for healthier aging. The purpose of this literature review is to investigate the role of platelet-activating factor and magnesium in the pathophysiology of hypertension, atherosclerosis, cardiovascular disease, stroke, and aging. Since the pathophysiology of the platelet-activating factor biomolecule is underexplored, further research studies are warranted in order to navigate the putative signaling pathways involved in the cardioprotective effects of dietary magnesium as a natural anti-PAF agent.","PeriodicalId":41330,"journal":{"name":"Cardiogenetics","volume":" ","pages":""},"PeriodicalIF":0.6,"publicationDate":"2022-02-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47795376","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 4

An Overview of Therapy Guidelines for Cardiac Arrest and the Potential Benefits of Hemoglobin-Based Oxygen Carriers 心脏骤停治疗指南综述及血红蛋白氧载体的潜在益处

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Cardiogenetics Pub Date : 2022-01-20 DOI: 10.3390/cardiogenetics12010004

Brian M Wollocko, Bardia Papian-Gorji, W. Yen, Urooj Zahid, N. Shah, K. Steier, Hanna Wollocko

{"title":"An Overview of Therapy Guidelines for Cardiac Arrest and the Potential Benefits of Hemoglobin-Based Oxygen Carriers","authors":"Brian M Wollocko, Bardia Papian-Gorji, W. Yen, Urooj Zahid, N. Shah, K. Steier, Hanna Wollocko","doi":"10.3390/cardiogenetics12010004","DOIUrl":"https://doi.org/10.3390/cardiogenetics12010004","url":null,"abstract":"Currently, there is an unmet therapeutic need for the medical management of cardiac arrest, as is evident from the high mortality rate associated with this condition. These dire outcomes can be attributed to the severe nature and poor prognosis of this disorder. However, the current treatment modalities, while helping to augment survival, are limited and do not offer adequate improvements to outcomes. Treatment modalities are particularly lacking when considering the underlying pathophysiology of the metabolic phase of cardiac arrest. In this study, we explore the three phases of cardiac arrest and assess the factors related to positive clinical outcomes and survival for these events. Furthermore, we evaluate the present guidelines for resuscitation and recovery, the issues related to ischemia and tissue reperfusion, and the benefit of oxygen-delivery therapeutic methods including blood transfusion therapy and synthetic hemoglobins (HBOCs). The current therapy protocols are limited specifically by the lack of an efficient method of oxygen delivery to address the metabolic phase of cardiac arrest. In this article, we investigate the next generation of HBOCs and review their properties that make them attractive for their potential application in the treatment of cardiac arrest. These products may be a viable solution to address complications associated with ischemia, reperfusion injury, and organ damage.","PeriodicalId":41330,"journal":{"name":"Cardiogenetics","volume":" ","pages":""},"PeriodicalIF":0.6,"publicationDate":"2022-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47445261","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0